OUScholars Oakwood University

https://ouscholars.oakwood.edu/student-posters/1054/thumbnail.jp

Vanterpool, Elaine

Daphnis, Sukari

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
Analysis of IL11RA IN Association with Craniosynostosis 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Sukari Daphnis 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and Daphnis, Sukari, "Analysis of IL11RA IN Association with Craniosynostosis" (2024). 
Student Posters. 50. 
https://ouscholars.oakwood.edu/student-posters/50 
This Poster is brought to you for free and open access by the Student Creative Works at OUScholars. It has been 
accepted for inclusion in Student Posters by an authorized administrator of OUScholars. 
domain. A missense mutation in IL11RA has been linked to 
craniosynostosis. This study's purpose is to identify the effects of 
the IL11RA gene and missense variants. Simple ClinVar analysis 
was used to identify variants associated with this disease. 
Computational analysis tools, such as SIFT and PolyPhen2, were 
used to predict the effects of the Arg296Trp mutation. It was 
concluded that the Arg296Trp mutation is damaging and will 
impact protein function. The objective of this research is to 
furnish the medical community with additional insights, thereby 
advancing the quest for further breakthroughs in treatments. 
INTRODUCTION
Craniosynostosis is a disorder in which fibrous joints go between 
the bones of a baby’s skull and close prematurely. For example, 
babies skull are like puzzle pieces, the puzzle pieces are made up 
of several bones. When babies are born they have borders called 
cranial sutures that are not firmly connected yet. Which leads the 
skull to expand as the babies are growing. However, when one of 
the sutures closes too soon, this can cause many issues. If it’s 
not treated, the increased intracranial pressure can lead to 
developmental problems, headaches, brain damage, or 
blindness. Researches have found many genes that are mutated 
linked to craniosynostosis.  
METHODS
• Simple-Clinvar was used in this study to find gene mutations 
IL11RA in the presence of craniosynostosis 
• Swiss modeling was used to obtain automated protein 
homology 
• Modeling of protein methods was used in this study to find 
amino acid substitution that will affect protein function 
• SIFT programming was used to select the variants that affect 
protein function.  
Polyphen 2 variants Arg296Trp, and Pro221Arg found 
in the gene IL11RA predict that the 
missense mutations are probably damaging 
and affect protein function. 
• Craniosynostosis is very important to study 
because in many cases a mutation change 
in certain genes can lead to the child 
developing craniosynostosis. This can lead 
to long-term complications. With further 
research, we can be able to identify more 
genes that may have an impact on genetics.   
SWISS Pro Modeling     Conserved Domain
Gene Expression
References
1. Mayo Foundation for Medical Education and 
Research. (2022, September 15). Craniosynostosis. 
Mayo Clinic. https://www.mayoclinic.org/diseases-
conditions/craniosynostosis/symptoms-causes/syc-
20354513 
2. Centers for Disease Control and Prevention. (2023, 
June 28). Facts about craniosynostosis. Centers for 
Disease Control and Prevention. 
https://www.cdc.gov/ncbddd/birthdefects/craniosyno
stosis.html#:~:text=What%20is%20Craniosynostosis
%3F-
,Craniosynostosis%20is%20a%20birth%20defect%20
in%20which%20the%20bones%20in,flexible%20mat
erial%20and%20called%20sutures. 
3. Craniosynostosis. Johns Hopkins Medicine. (n.d.). 
https://www.hopkinsmedicine.org/health/conditions-
and-diseases/craniosynostosis 
Acknowledgment
This project was supported by 
Oakwood’s undergraduate research 
program. Special thanks to Dr. 
Vanterpool, PhD 


English

Analysis of IL11RA IN Association with Craniosynostosis​

https://ouscholars.oakwood.edu/student-posters/1057/thumbnail.jp

Ralph, David, III

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
Osteoporosis- LPR5 Gene Interaction 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
David Ralph III 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and Ralph, David III, "Osteoporosis- LPR5 Gene Interaction" (2024). Student Posters. 53. 
https://ouscholars.oakwood.edu/student-posters/53 
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accepted for inclusion in Student Posters by an authorized administrator of OUScholars. 
Osteoporosis- LPR5 Gene Interaction
David Ralph III and Elaine Vanterpool, PhD
Oakwood University
Department of Biological Sciences
Huntsville AL, 35896
Osteoporosis is a chronic condition that affects bone health. It occurs when the body 
loses too much bone, makes too little bone, or both. Osteoporosis is common in 
Americans, affecting about 54 million people (about twice the population of 
Texas).  Osteoporosis is characterized by low bone mass and micro-architectural 
deterioration of bone tissue.  There are typically no symptoms in the early stages. When 
the bone is weakened symptoms may include stooped posture, pain associated with 
fractures, and loss of height.  The purpose of this study is to identify genes and variants 
associated with Osteoporosis. Simple ClinVar analysis identified LRP5 gene associated 
with Osteoporosis. The LRP5 gene functions to code for proteins involved in the function 
of osteoblasts, which are responsible for bone formation. Computational tools, such as 
SIFT and PolyPhen2, were used to analyze variants of these genes. Missense mutation 
identified by Simple ClinVar in the AR gene include Arg1135 Leu and Glu1367Lys. 
Analysis of the variants by SIFT and PolyPhen2 show that Arg1135 Leu type of mutation to 
be benign whereas Glu1367Lys to be pathogenic. Osteoporosis affects almost 20% of 
women aged 50 and over and 1 in 20 men aged 50 and over, the impact of this study is 
that it will provide research in the genetic upbringings of Osteoporosis and help find ways 
of preventing and treating this condition.
ABSTRACT
Osteoporosis is a bone disease characterized by weak and brittle bones. Individuals 
with osteoporosis, bone mineral density decreases, making the bones more 
susceptible to fractures. Even minor stresses or inconveniences, such as bending 
over or coughing, can cause a fractures. This condition often remains silent in the 
earlier stages, with no noticeable symptoms until a fracture occurs.
Symptoms of Osteoporosis include:
• Stooped posture 
• Pain associated with fractures 
• Location-specific pain (depending on the fracture site)
• Lower back pain (resulting from repeated spine fractures Hip fractures, which may 
occur due to slip and fall accidents and will heal slowly)
INTRODUCTION
RESULTS
In conclusion, it was found that the LPR5 gene plays an 
important role in the upbringings of osteoporosis. Based on the 
information provided from the computational data, the mutation 
on the LRP5 gene of Arg to Leu  is likely benign. These mutations 
can cause a functional change in the protein, which cause them 
to malfunction. The mutation of the LRP5 gene causes the gene 
to be damaging on the protein. 
DISCUSSION AND 
CONCLUSION
Polyphen-2 prediction of functional effects of human nssnps. PolyPhen-
2: prediction of functional effects of human nsSNPs. (2024). 
http://genetics.bwh.harvard.edu/pph2/Predict effects of nonsynonmous / 
missense variants. SIFT. (2024). https://sift.bii.a-star.edu.sg/U.S. 
National Library of Medicine. (2024). Home - protein - NCBI. National 
Center for Biotechnology Information. 
https://www.ncbi.nlm.nih.gov/protein/U.S. National Library of Medicine. 
(2024). Home - protein - NCBI. National Center for Biotechnology 
Information. https://www.ncbi.nlm.nih.gov/protein/U.S. National Library 
of Medicine. (2024). Clinvar. National Center for Biotechnology 
Information. https://www.ncbi.nlm.nih.gov/clinvar/Model Interactive 
Workspace. SWISS. (2024). https://swissmodel.expasy.org/interactive
Simple clinvar. Simple ClinVar. (2024). https://simple-
clinvar.broadinstitute.org/
REFERENCES 
Methods that were used to perform this study include Simple-ClinVar, ClinVar, SIFT, 
PolyPhen2, SWISS Modeling, and a literature search. These tools and methods were 
used to determine the function, the pathogenicity, structure, and the role of causing 
disease,
• Simple-ClinVar was used to explore genes that were associated osteoporosis and 
later helped explore mutations that contributed to the rise of osteoporosis.
• ClinVar was utilized to examine the conserved domains of the proteins. 
• SIFT and PolyPhen2 were utilized to analyze and test the pathogenicity of the 
LRP5 gene mutations. 
• SWISS Modeling was utilized to explore the LRP5 gene mutation.
• A literature search was performed to learn more about osteoporosis. 
METHODS
I would like to thank the illustrious intuition of Oakwood 
University for for providing the tools and resources required to 
complete the research. As well I would like a heartfelt to my 
professor Dr. Elaine Vanterpool for her unwavering support 
and guidance. I am profoundly grateful for the opportunity 
provided to me to partake in this research project. 
ACKNOWLEDGEMENTS  
Figure 3: Leu 1126 Arg is predicted to 
have a score of 0.994
The mutation correlates vastly with 
Osteoporosis. According to PolyPhen2 
the score was predicted to be 0.994. 
The findings then suggests that the 
shift of leukocytes to arginine amino 
acid in the 1126 position to 
chromosome 11q13 is highly probable 
to be damaging on the protein. Below 
shows the different alignments the 
base has near the position of the 
mutations. 
Figure 5: Leu 1126 Arg is predicted to be 
a tolerated mutation.
The prediction produced by SIFT software 
shows us that the missense mutation of 
Arg to Leu on position 1135 of 
chromosome 11q13 is to be tolerated 
without affecting the chromosomes. 
Figure 4 SWISS-MODEL 3-D 
model of the protein


Osteoporosis- LPR5 Gene Interaction​

https://ouscholars.oakwood.edu/student-posters/1030/thumbnail.jp

Gilbert, Leanne

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
FBN1 Gene Analysis and Role in Mitral Valve Prolapse 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Leanne Gilbert 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and Gilbert, Leanne, "FBN1 Gene Analysis and Role in Mitral Valve Prolapse" (2024). 
Student Posters. 26. 
https://ouscholars.oakwood.edu/student-posters/26 
This Poster is brought to you for free and open access by the Student Creative Works at OUScholars. It has been 
accepted for inclusion in Student Posters by an authorized administrator of OUScholars. 
FBN1 Gene Analysis and Role in Mitral Valve Prolapse
Leanne Gilbert and Elaine Vanterpool, PhD
Oakwood University
Department of Biological Sciences
Huntsville AL, 35896
Mitral Valve Prolapse, also known as Barlow syndrome, is a heart disease affecting the valve 
between the left heart chambers. The mitral valve flaps are weak due to tissue weakness and 
are unable to close properly. Upon researching the genes associated with Mitral Valve 
Prolapse using simple clinvar, FBN1 was identified. The purpose of this study is to analyze the 
impact of the FBN1 gene and its mutations on Mitral Valve Prolapse. The FBN1 gene encodes 
and provides instructions for making a member of the fibrillin family of proteins known as the 
fibrillin 1 gene. Fibrillin-1 is an extracellular matrix glycoprotein essential for structure serving 
as a structural component of calcium-binding microfibrils. These microfibrils provide force-
bearing structural support in elastic and nonelastic connective tissue throughout the body. 
The active conserved domains of the protein include EGF_CA, vWFA, Fibrillin_U_N, 
FXa_inhibition, EGF_3, cEGF, and TB domains. In this study, the missense mutations analyzed 
were Cys1242Tyr, Gly1127Ser, and Arg2726Trp. After using Polyphen-2 and SIFT Cys1242Tyr 
and Gly1127Ser mutations were deemed pathogenic impacting protein function, and the 
Arg2726Trp was deemed benign, likely not impacting protein function. Although Mitral Valve 
prolapse is not the only disease linked to the FBN1 gene, this research can help advance 
further studies into how FBN1 is linked to other diseases and what can be done to overcome 
the challenges possible mutations can cause on patients.
ABSTRACT
Mitral Valve Prolapse is a heart disease that affects the valve between the left heart chambers. The 
mitral valve flaps/leaflets are floppy and weak, unable to close tightly. Because of the tissue weakness, 
they become enlarged or stretched and bulge into the left atrium as the heart contracts with each 
heartbeat. The role of the mitral valve is to control the flow of blood from the hearts left atrium to the 
left ventricle. If prolapsed, the valve may leak blood backward through the valve to the atrium causing 
the condition mitral valve regurgitation. This disease often exists without symptoms, but some may 
develop overtime such as a racing heartbeat, dizziness, difficulty breathing, fatigue, etc. It is typically 
an inherited cardiovascular disease affecting 3% of the population and is seen twice as much in 
women than men. There is not much known about the exact cause of mitral valve prolapse, but it is a 
lifelong disorder that can run in families as an inherited cardiovascular disease. It also may be linked to 
other conditions such as scoliosis, graves’ diseases, Marfan syndrome and more.
INTRODUCTION
.
RESULTS
• The FBN1 gene encodes for fibrillin-1, which is essential for structure, 
serving as a structural component of calcium-binding microfibrils 
found in elastic and connective tissues throughout the body.
• Mutations in this gene contribute to diseases such as Mitral Vave 
prolapse of the heart. The FBN1 gene was confirmed to be expressed 
in heart tissues but expressed highly in the placenta. This could 
explain why women are more likely to be diagnosed with mitral valve 
prolapse and could possibly mean that it is a maternal disease. This 
would need further research and investigation.
• The mutations of Cys1242Tyr and Gly1127Ser were confirmed to be 
damaging, affecting protein functions. Because FBN1 is related to 
structure of connective tissues, the proteins that would be affected 
would most likely be contractile and structural proteins in the mitral 
valve tissues of the heart. The calcium-binding microfibrils found in 
the heart are weakend and prolapse because of this.
• FBN1 is also associated with Marfan syndrome and the related MASS 
phenotype, as well as ectopia lentis syndrome, Weill-Marchesani 
syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid 
syndrome.
• In conclusion, my hopes are that further studies can be done on the 
FBN1 gene, as it has thousands of possible damaging mutations, 
possibly affecting thousands of people with not just mitral valve 
prolapse but any disease related to this gene. 
DISCUSSION AND 
CONCLUSION
• Conserved domains. (n.d.). Nih.gov. Retrieved April 3, 2024, from 
https://www.ncbi.nlm.nih.gov/cdd?LinkName=gene_cdd&from_uid=2200
• FBN1 fibrillin 1 [Homo sapiens (human)] - Gene - NCBI. (n.d.). Nih.gov. Retrieved 
April 3, 2024, from https://www.ncbi.nlm.nih.gov/gene/?term=NM_000138.5
• Mitral valve prolapse. (2024, March 27). Mayo Clinic. 
https://www.mayoclinic.org/diseases-conditions/mitral-valve-
prolapse/symptoms-causes/syc-20355446
• What is mitral valve Prolapse? (n.d.). Pennmedicine.org. Retrieved April 3, 
2024, from https://www.pennmedicine.org/for-patients-and-visitors/patient-
information/conditions-treated-a-to-z/mitral-valve-prolapse
REFERENCES 
• Simple Clinvar: used to initially detect the genes involved in mitral valve prolapse and 
further analyze the phenotypes expressed and mutations associated with the FBN1 gene.
• PolyPhen-2: Used to analyze specific missense mutations among the amino acids in the 
FBN1 gene and how damaging each mutation could be.
• SIFT: Used to analyze sequence homology determining how or if it affects protein 
functions.
• Swiss Model Protein: Used to obtain an actual automated model of the FBN1 protein.
• NCBI: Used for further analysis of which tissues the FBN1 gene is expressed and the 
conserved domains
METHODS I would like to thank Dr. Elaine Vanterpool PhD for her 
support and guidance throughout this process. Also, 
special thanks to my mom and sister for spiking my 
interest in mitral valve prolapse.
ACKNOWLEDGEMENTS  
Of the top genes associated with Mitral valve 
Prolapse, FBN1 showed up with a lower frequency 
of 2. This could mean the mutations in this gene 
play a role in why there is tissue weakness in the 
mitral valve. The goal of this study is to determine 
which specific errors or mutations can occur in the 
FBN1 gene and what affects they can have on 
cellular functions. The FBN1 gene encodes for the 
fibrillin 1 gene that is essential for structural 
support in elastic and nonelastic connective tissue 
throughout the body.
PolyPhen-2 & SIFT Results FBN1 Protein Homology
Conserved Domains
Locations of Gene Expression
There were a total of 2249 possible mutations of the FBN1 gene. 
The 3 analyzed were Cys1242Tyr, Gly1127Ser, and Arg2726Trp. 
Cys1242Tyr and Gly1127Ser mutations were both deemed as 
probably damaging, affecting protein function of cells whereas the 
Arg2726Trp mutation was deemed benign most likely not to affect 
protein function.
EGF_CA Domain
TB Domain
cEGF Domain
Fxa_inhibition Domain
vWFA Domain
Calcium-binding EGF-like domain, present in many membrane-
bound and extracellular (mostly animal) proteins. 
Involved in a wide variety of important cellular functions. These 
include basal membrane formation, cell migration, cell differentiation, 
adhesion, haemostasis, signaling, chromosomal stability, malignant 
transformation and in immune defenses.
They are found in blood coagulation proteins such as fibrillin, Clr 
and Cls, thrombomodulin, and the LDL receptor.
This domain is also known as the 8 cysteine domain. This family 
includes the hybrid domains. This cysteine rich repeat is found 
in TGF binding protein and fibrillin.
This short domain on coagulation enzyme factor Xa is found to 
be the target for a potent inhibitor of coagulation, TAK-442.


FBN1 Gene Analysis and Role in Mitral Valve Prolapse​

https://ouscholars.oakwood.edu/student-posters/1027/thumbnail.jp

St. Louis, Mya

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
Analysis of the R100Q and P206S variants’ implications in bipolar 
disorder 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Mya St. Louis 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and St. Louis, Mya, "Analysis of the R100Q and P206S variants’ implications in bipolar 
disorder" (2024). Student Posters. 29. 
https://ouscholars.oakwood.edu/student-posters/29 
This Poster is brought to you for free and open access by the Student Creative Works at OUScholars. It has been 
accepted for inclusion in Student Posters by an authorized administrator of OUScholars. 
Analysis of the R100Q and P206S variants’ implications in 
bipolar disorder
Mya St. Louis and Elaine Vanterpool, PhD
Oakwood University
Department of Biological Sciences
Huntsville AL, 35896
Bipolar disorder is a psychiatric disorder that has a heritability rate of 0.7-0.8. 
There is much unknown regarding the genetic mutations associated with this 
disorder. The serotonergic system has been proven to be involved in the 
development of BD, and several genes have been studied for their involvement. 
Understanding the gene variants involved in this highly heritable disease and their 
impact on the human body is crucial to understanding how the genes implicated in 
this disorder interact to produce this phenotype. To discover and analyze these 
genes Simple Clinvar, Polyphen 2, SIFT, and SWISS modeling as well as the 
National Library of Medicine were used. The TPH2 gene, which comparatively 
was highly expressed in the brain, was identified in Simple Clinvar as being 
implicated in bipolar disorder for its critical involvement in the biosynthesis of 
serotonin. Out of the ten variants identified for this gene, two variants were 
selected for further analysis. While the R100Q variant was predicted to be benign 
and tolerated in protein function, the P206S variant was predicted to be possibly 
damaging and to have an effect on protein function. TPH is a rate-limiting enzyme 
that is implicated in other psychological disorders such as depression and suicidal 
behavior. The TPH2 isoform is commonly expressed in the raphe nuclei neuron 
that contains serotonergic neuronal components. There is very little information 
known on the effects of polymorphisms of TPH2. However, research suggests that 
mutations to this gene that decrease its activity negatively affect behavior and 
possibly survival. If more research is done on the P206S variant, it can potentially 
be discovered how it can impact bipolar disorder and modify its treatment.
ABSTRACT
Bipolar disorder is a psychiatric disorder that has a heritability rate of 0.7-0.8 
(Harrison et al., 2018). A child of a parent who has bipolar disorder is ten times 
as likely to experience it in their lifetime. Individuals with bipolar disorder 
experience episodes of elevated mood described as mania, followed by 
depression. In between these fluctuations, they can experience normal moods 
(euthymia). Most individuals have longer periods of depression than mania, 
although the duration of mood episodes varies between persons, as well as the 
number of episodes. It has been difficult to find causative genes for this disorder 
due to many genes with small effects, as well as gene-gene interactions being 
involved (Choi et al., 2010). The serotonergic system has been shown to be 
involved in the development of BD, and several genes have been studied for 
their involvement.
INTRODUCTION
RESULTS
Tryptophan hydroxylase (TPH) is a rate-limiting enzyme 
responsible for catalyzing the biopterin-dependent 
monooxygenation of tryptophan to 5-hydroxytryptophan, which 
when decarboxylated becomes serotonin (Choi et al., 
2010)(Lopez et al., 2007). The TPH2 gene located on 
chromosome 12q is the isoform of TPH that mostly is expressed 
in the raphe nuclei neuron of the brainstem, where serotonergic 
neurons are the main neuronal components. There have been 
several studies concerning the relationship between this gene 
and bipolar disorder. One study showed that in the dorsolateral 
prefrontal cortices of post-mortem bipolar disorder patients, 
there were higher levels of TPH2 (Choi et al., 2010). There is a 
significant association between mutations in TPH2 and bipolar 
disorder, and it has also been shown that there is a negative 
impact on behavior and survival in psychiatric affective 
disorders when mutations that decrease TPH2 activity occur 
(Lopez et al., 2007)(Popova & Kulikov, 2010). TPH2 has been 
studied concerning several psychological disorders, such as 
depression, suicidal behavior, and bipolar disorder. It has also 
been implicated in Attention deficit hyperactivity disorder 7. In 
this study, only the P206 mutation return results in SIFT and 
Polyphen as having the potential to be damaging and to affect 
protein function. Because bipolar disorder is highly associated 
with genetics it is important to study mutations that could be 
causative for it. If more research is done on the P206S mutation, 
it can potentially be discovered how it impacts bipolar disorder 
and this information can be used to modify its treatment.
DISCUSSION AND 
CONCLUSION
•Harrison, P. J., Geddes, J. R., & Tunbridge, E. M. (2018). The Emerging 
Neurobiology of Bipolar Disorder. Trends in neurosciences, 41(1), 18–30. 
https://doi.org/10.1016/j.tins.2017.10.006
•Lopez, V. A., Detera-Wadleigh, S., Cardona, I., National Institute of Mental 
Health Genetics Initiative Bipolar Disorder Consortium, Kassem, L., & 
McMahon, F. J. (2007). Nested association between genetic variation in 
tryptophan hydroxylase II, bipolar affective disorder, and suicide attempts. 
Biological psychiatry, 61(2), 181–186. 
https://doi.org/10.1016/j.biopsych.2006.03.028
•Choi, K. Y., Yoon, H. K., & Kim, Y. K. (2010). Association between Serotonin-
Related Polymorphisms in 5HT2A, TPH1, TPH2 Genes and Bipolar Disorder in 
Korean Population. Psychiatry investigation, 7(1), 60–67. 
https://doi.org/10.4306/pi.2010.7.1.60
Nina K Popova & Alexander V Kulikov (2010) Targeting tryptophan 
hydroxylase 2 in affective disorder, Expert Opinion on Therapeutic Targets, 
14:11, 1259-1271, DOI: 10.1517/14728222.2010.524208
REFERENCES 
Simple Clinvar was used to identify the genes implicated in bipolar disorder as 
well as phenotypes, missense mutations, and the protein mapping for the TPH2 
gene. The National Library of Medicine was used to discover more information 
about the gene and related phenotypes, to find relevant literature, to obtain the 
FASTA format of the amino acid sequence, and to identify conserved domains. 
Polyphen 2 utilized the FASTA sequence to analyze relevant variants for the 
likelihood of pathogenicity. SIFT was used to analyze the likelihood of the 
variants selected to affect protein function. Swiss Model Pro was used to obtain 
models of the gene.
METHODS
I would like to express my sincerest gratitude
to the Biological Sciences Department at 
Oakwood University and to Dr. Elaine 
Vanterpool, my professor and mentor during
this project, as well as to the Hudson Alpha 
Institute of Technology.
ACKNOWLEDGEMENTS
Protein Mapping-Simple Clinvar
Polyphen 2 SIFT
ACT domain Biopterin_H Domain
Conserved Domains SWISS Pro Modeling
Model 1
Model 2
Model 3
Gene Expression


Analysis of the R100Q and P206S variants’ implications in bipolar disorder​

https://ouscholars.oakwood.edu/student-posters/1044/thumbnail.jp

Andrews, Raynon

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
The analysis of NOTCH3 Gene Variants in CADASIL 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Raynon Andrews 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and Andrews, Raynon, "The analysis of NOTCH3 Gene Variants in CADASIL" (2024). 
Student Posters. 38. 
https://ouscholars.oakwood.edu/student-posters/38 
This Poster is brought to you for free and open access by the Student Creative Works at OUScholars. It has been 
accepted for inclusion in Student Posters by an authorized administrator of OUScholars. 
The analysis of NOTCH3 Gene Variants in 
CADASIL
Raynon Andrews and Elaine Vanterpool, PhD
Oakwood University
Department of Biological Sciences
Huntsville AL, 35896
Autosomal dominant cerebral arteriopathy with subcortical infarcts and 
leukoencephalopathy (CADASIL) is a vascular disease. Patients diagnosed 
with CADASIL have experienced migraines with an aura. Auras are the 
causes of sensory disturbances in the body. Sensitivity to light, and 
temporary to full loss of vision are some of the many symptoms. The 
extreme migraine pain usually comes after an aura has occurred. Patients 
with CADASIL also have an increased risk of an ischemic stroke with 
lacunar syndrome. The purpose of this study is to identify gene variants 
associated with CADASIL. Simple ClinVar analysis was used to identify 
genes associated with this disease phenotype. NOTCH3 was identified to be 
associated with CADASIL. NOTCH3 is a single-pass transmembrane 
receptor, that has a crucial role in proper vascular smooth muscle
cell development and maintenance. Computational analysis tools, such as 
SIFT and PolyPhen2, were used to help identify gene variants. Missense 
mutation analysis by SIFT and PolyPhen2 shows that Arg169Cys is 
predicted to be pathogenic and damaging to protein structure. Expression 
analysis shows that NOTCH3 is mostly expressed in the arteries. CADASIL 
is one of the most common causes of inherited strokes and migraines with 
aura in adults. The goal of this study is to provide research to the medical 
community and potentially treat and prevent this condition.
ABSTRACT
INTRODUCTION
RESULTS
DISCUSSION AND CONCLUSION
•Model results. Untitled Project | Models. (n.d.). https://swissmodel.expasy.org/interactive/3wGrX7/models/ 
•Polyphen-2 prediction of functional effects of human nssnps. PolyPhen-2: prediction of functional effects of human nsSNPs. (n.d.). http://genetics.bwh.harvard.edu/pph2/ 
•Polyphen-2 prediction of functional effects of human nssnps. PolyPhen-2: report for XP_054177079.1 R169C. (n.d.). 
http://genetics.bwh.harvard.edu/ggi/pph2/4f1799c78d42146c2de191d51e5dcb2408fb5a30/9632359.html 
•SIFT single protein sequence. (n.d.). https://sift.bii.a-star.edu.sg/www/SIFT_seq_submit2.html 
•Stojanov, D., Vojinovic, S., Aracki-Trenkic, A., Tasic, A., Benedeto-Stojanov, D., Ljubisavljevic, S., & Vujnovic, S. (2015a, February 9). Imaging characteristics of cerebral autosomal dominant arteriopathy with subcortical 
infarcts and leucoencephalopathy (CADASIL). Bosnian journal of basic medical sciences. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4365670/ 
•Stojanov, D., Vojinovic, S., Aracki-Trenkic, A., Tasic, A., Benedeto-Stojanov, D., Ljubisavljevic, S., & Vujnovic, S. (2015b, February 9). Imaging characteristics of cerebral autosomal dominant arteriopathy with subcortical 
infarcts and leucoencephalopathy (CADASIL). Bosnian journal of basic medical sciences. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4365670/figure/F3/ 
•Stojanov, D., Vojinovic, S., Aracki-Trenkic, A., Tasic, A., Benedeto-Stojanov, D., Ljubisavljevic, S., & Vujnovic, S. (2015c, February 9). Imaging characteristics of cerebral autosomal dominant arteriopathy with subcortical 
infarcts and leucoencephalopathy (CADASIL). Bosnian journal of basic medical sciences. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4365670/ 
•Szymanowicz, O., Korczowska-Łącka, I., Słowikowski, B., Wiszniewska, M., Piotrowska, A., Goutor, U., Jagodziński, P. P., Kozubski, W., & Dorszewska, J. (2023, October 9). Headache and notch3 gene variants in 
patients with Cadasil. Neurology international. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10594416/#B27-neurolint-15-00078 
•U.S. National Library of Medicine. (n.d.-a). CDD conserved protein domain family: Notch. National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=425447 
•U.S. National Library of Medicine. (n.d.-b). Notch 3, partial [homo sapiens] - protein - NCBI. National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/protein/AAC15789.1?report=fasta 
•U.S. National Library of Medicine. (n.d.-c). Notch3 [homo sapiens]. National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/protein/?term=NOTCH3 
•U.S. National Library of Medicine. (n.d.-d). Notch3 Notch receptor 3 [homo sapiens (human)] - gene - NCBI. National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/gene/4854#phenotypes 
•U.S. National Library of Medicine. (n.d.-e). Vcv000009218.3 - Clinvar - NCBI. National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/clinvar/variation/9218/ 
REFERENCES 
Methods that were used to preform this study include 
Simple-ClinVar, SIFT, PolyPhen2, SWISS Modeling, and 
a literature search. These tools and methods were used to 
determine the function, the pathogenicity, structure and 
the role of causing disease.
•Simple-Clin Var was used to explore genes that are 
associated with CADASIL and then used to explore 
mutations that contribute the rise of CADASIL.
•﻿ Clin Var was used to examine the conserved domains 
of the proteins.
•﻿ SIFT and PolyPhen2 were used to analyze and test the 
pathogenicity of the gene mutations.
•﻿ SWISS Modeling was utilized to explore the structure 
of the proteins the NOTCH3 genes code for.
• A literature search was performed to learn more about 
cerebral arteriopathy with subcortical infarcts and 
leukoencephalopathy (CADASIL), and the roles of the 
NOTCH3 gene
METHODS
This research was supported by the Oakwood University Biology Department, 
the HudsonAlpha, and MSEIP-iSTEM.
ACKNOWLEDGEMENTS  
Conserved Domains of NOTCH3
Figure 1.The LNR (Lin-12/Notch repeat) domain is 
found in three tandem copies in Notch related proteins. 
The structure of the domain has been determined by 
NMR and was shown to contain three disulfide bonds 
and coordinate a calcium ion. Three repeats are also 
found in the PAPP-A peptidase.
Figure 2. Calcium-binding EGF-like domain, present in a 
large number of membrane-bound and extracellular (mostly 
animal) proteins. Many of these proteins require calcium for 
their biological function and calcium-binding sites have been 
found to be located at the N-terminus of particular EGF-like 
domains; calcium-binding may be crucial for numerous 
protein-protein interactions. Six conserved core cysteines 
form three disulfide bridges as in non calcium-binding EGF 
domains, whose structures are very similar. EGF_CA can be 
found in tandem repeat arrangements.
Autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a 
vascular disease that is identified by many things. The main two diseases are recurring strokes along with strong 
migraines. About 40% of patients diagnosed with CADASIL have experienced migraines with an aura. Migraines 
with aura(MA), and Migraines without an aura(MO) are the two distinct types of migraines. These auras come 
before the migraine itself and causes sensory disturbances. Studies have showed an increase in white matter 
hyperintensities on brain MRI along with inherited strokes. There are four Notch receptors that mammals have 
(Notch1, Notch2, Notch3, Notch4). These pathways have an important role in the expression of its target genes 
through activation by its ligands, translocation, and post-translational modifications. NOTCH3 protein is very 
important to the survival and activity of the vascular smooth muscles. It controls the volume of the blood vessels 
along with the local blood pressure. The mutation of  the NOTCH3 gene causes the CADASIL disease. 
When small perforating cerebral arteries are most effected with a collection of granular and osmophili substances that are contained in vascular smooth muscle cell membrane 
(VSMC). The expansion of the extracellular matrix is not expressed to the regular tension within the arteries. VSMC slowly begin to degenerate with mural fibrosis. Stenosis 
begins in the distal segment of the medullary arteries causing the cerebral vessels begin to lose autoregulation. This process results in small infarcts within the white and deep grey 
matter along with the pons. White Matter Hyperintensities is the first imaging signs of CADASIL, and are usually found in the periventricular regions.
1. (b,d,g) Figures show axial T2-weighted images show periventricular hyperintensities.
2. (c,e,h) Figures show axial T2-weighted images show hyperintensities in the deep white 
matter.
T2-Weighted Images
In conclusion, results showed that the NOTH3 gene has a primary play in the 
development of CADASIL. The results from the Computational analysis data, Arg169Cys 
mutation is predicted to be pathogenic and damaging to protein structure. This specific 
mutation functional disruption the protein and caused it to malfunction. Arg169Cys 
mutation in NOTCH3 protein caused problems within the vascular smooth muscles which 
led to CADASIL disease.


The analysis of NOTCH3 Gene Variants in CADASIL​

https://ouscholars.oakwood.edu/student-posters/1036/thumbnail.jp

Stephens, Bryce

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
Exploring the Genetic Links: A Computational Analysis of NR3C2 
in Hypertensive Populations 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Bryce Stephens 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and Stephens, Bryce, "Exploring the Genetic Links: A Computational Analysis of NR3C2 
in Hypertensive Populations" (2024). Student Posters. 46. 
https://ouscholars.oakwood.edu/student-posters/46 
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Exploring the Genetic Links: A Computational Analysis of 
NR3C2 in Hypertensive Populations
Bryce Stephens and Elaine Vanterpool, PhD
Oakwood University
Department of Biological Sciences
Huntsville AL, 35896
Hypertension (HTN) is a common condition characterized by excessive force applied by the heart to the 
artery walls to push blood throughout the body. In many cases, the cause of why the heart outputs blood 
at a forceful rate is unknown, but when a cause is identified, it is termed secondary hypertension. Causes 
include physical inactivity, high sodium intake, advancing age, and obesity. The overarching goal of this 
study is to determine whether exposure to specific genetic mutations may be associated with the 
diagnosis of primary hypertension. Information was gathered using computational software such as 
Simple-Clinvar, SIFT, and PolyPhen-2. These applications identified the gene Nuclear Receptor 
Subfamily 3 Group C Member 2 (NR3C2) as a potential contributor to HTN. Analysis of NR3C2 reveals 
nine possible pathogenic mutations among thirty-seven cases. Select missense mutations were analyzed 
to authenticate the possible pathogenic alterations expressed in protein function. The physical structure 
was attained and analyzed using Swiss modeling to understand protein function. Mutations within the 
NR_DBD_GR_PR and NR_LBD regions impede NR3C2’s ability to conduct vital physiological 
processes. Missense mutations from Gln766Arg and Ser818Leu were predicted to alter protein function 
(p ≤ 0.02). The expression of this gene is found widely across the body but primarily in the 
gastrointestinal tract, specifically the colon. This gene is seen to have tight linkages to individuals 
suffering from type 1 autosomal dominant pseudohypoaldosteronism. Identification of mutations in this 
gene will allow researchers and clinicians to understand the adverse effects that may occur and allow for 
personalized diagnosis or treatment options.
ABSTRACT
• An individual affected with heart disease is likely to also have hypertension. Since the 1950s, heart 
disease has been the leading cause of death in the United States. One risk factor of the disease, 
hypertension, typically has no identifiable cause which leaves patients and physicians left to deal 
with such without addressing the underlying cause. If left untreated, hypertension can lead to 
increased risk of heart attack, stroke, and other life- threatening problems. 
• In an effort to promote preventative health and not corrective health, analysis of a specific gene can 
allow for better understanding about the disease and its cure or preventative options. It should be 
mentioned that there is not one gene responsible for any given disease, but collectively they play a 
role in a large system, such as NR3C2.   This gene is primarily found in the colon and thyroid.
• This study aims to understand NR3C2’s role in the progression and overall diagnosis of primary 
hypertension. The gene NR3C2 is also known as the mineralocorticoid receptor which regulated the 
amount of sodium in the body by the release and containment of aldosterone. In the body sodium 
plays a role in the regulation of potassium, fluid balance, and blood pressure. Defects in this gene are 
also associated with early onset hypertension with severe exacerbation in pregnancy.
INTRODUCTION
RESULTS
• The functions of NR3C2 is spread amongst the body via numerous cellular 
processes and will be further analyzed to identify the overall consequences of 
the mutations that occur in this gene. 
• Analysis of the conserved domains and positions of the mutations directly 
coincide with abnormal gene behavior. This can cause a dysregulation of certain 
bodily nutrients like sodium and potassium which are used to carry out many 
physiological functions. 
• A mutation in this gene would disrupt the homeostatic upkeep of the amount of 
sodium in the bloodstream, which can lead to a buildup of sodium. This buildup 
will damage any tissues that is encountered in the body.
• Mutations found on NR3C2’s gene line causes effects that manifest as autosomal 
dominant pseudo hypoaldosteronism type 1. This is supported by the high 
presence of this gene in the colon when compared to the other tissues found in 
the body. 
• The presence of NR3C2 is also highly prevalent in the thyroid gland. Due to its 
positioning and ability to regulate certain metabolic functions, a future study will 
be conducted on analyzing the consequences of mutations found on NR3C2, and 
how they impact metabolic and homeostatic functions.
DISCUSSION AND 
CONCLUSION
• Amin, M., Syed, S., Wu, R., Postolache, T. T., & Gragnoli, C. (2023). Novel linkage and 
association of the mineralocorticoid receptor gene (NR3C2) with familial type 2 diabetes and 
depression and their comorbidity. Aspects of Molecular Medicine, 1, 100003. 
https://doi.org/10.1016/j.amolm.2023.100003
• Heart disease - Symptoms and causes - Mayo Clinic. (2022, August 25). Mayo Clinic. 
https://www.mayoclinic.org/diseases-conditions/heart-disease/symptoms-causes/syc-
20353118#:~:text=Plaque%20and%20blood%20clots%20can,lower%20the%20risk%20of%20a
therosclerosis.
• Heart disease deaths - Health, United States. (n.d.). https://www.cdc.gov/nchs/hus/topics/heart-
disease-deaths.htm
• Mhatre, I., Abdelhalim, H., Degroat, W. et al. Functional mutation, splice, distribution, and 
divergence analysis of impactful genes associated with heart failure and other cardiovascular 
diseases. Sci Rep 13, 16769 (2023). https://doi.org/10.1038/s41598-023-44127-1
• NR3C2 nuclear receptor subfamily 3 group C member 2 [Homo sapiens (human)] - Gene - 
NCBI. (n.d.). https://www.ncbi.nlm.nih.gov/gene/4306
REFERENCES 
• Simple-Clinvar was utilized to identify the role and presence of the gene NR3C2 in 
Hypertensive populations. 
• Swiss modeling was utilized to observe protein function using modeling methods. 
Further analysis was conducted on the models containing mutations.
• Poly-Phen2 allowed for further predictions about the mutations and the severity of 
affects on the protein.
• SIFT programming was then used to confirm if the amino acid substitutions had any 
affect on the protein. 
METHODS ACKNOWLEDGEMENTS  
HudsonAlpha Institute for Biotechnology and 
Oakwood University supported this CODE project—
special thanks to Elaine Vanterpool, Ph.D.
Conserved Domains
NR3C2 Normal ProteinNR3C2 Mutant Protein NR3C2 Normal Protein
Protein Structurization
SIFT Predicted that a mutation found on position 776 that alters 
glycine (Q) to arginine (R) will affect protein function with a score 
of 0.02.
SIFT Predicted that a mutation found on position 818 that alters 
serine (S) to leucine (L) will affect protein function with a score of 
0.01.
Poly-Phen2 predicted that the missense mutation (Q776R) was 
most likely to be damaging to protein function and yielded a score 
of 0.991.
Poly-Phen2 predicted that the missense mutation (S818L) was 
most likely to be damaging to protein function and yielded a score 
of 1.
Prediction of Pathogenicity: Poly-Phen2 and SIFT
• One conserved domain can be are found at position 737 to 837. 
This the ligand binding domain (LBD) of nuclear receptors 
(NR).
• LBD regulates various physiological functions which pertains to 
development, reproduction, homeostasis and metabolism. 
• The members of the family include receptors of steroids, thyroid 
hormone, retinoids, cholesterol by-products, lipids and heme. 
• NRs share a common structural organization with a central well 
conserved DNA binding domain (DBD)
• One conserved domain can be are found at position 599 to 673. 
This is the DNA-binding domain (DBD) of glucocorticoid 
receptors (GR).
• DBD interacts with a specific DNA site upstream of the target 
gene and modulates the rate of transcriptional initiation. 
• Nuclear receptors form a superfamily of ligand-activated 
transcription regulators, which regulate various physiological 
functions, from development, reproduction, to homeostasis and 
metabolism.


Exploring the Genetic Links: A Computational Analysis of NR3C2 in Hypertensive Populations​

https://ouscholars.oakwood.edu/student-posters/1055/thumbnail.jp

Dorant, Ronelle

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
MECP2 and its interaction with Attention Deficit Hyperactivity 
Disorder 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Ronelle Dorant 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and Dorant, Ronelle, "MECP2 and its interaction with Attention Deficit Hyperactivity 
Disorder " (2024). Student Posters. 51. 
https://ouscholars.oakwood.edu/student-posters/51 
This Poster is brought to you for free and open access by the Student Creative Works at OUScholars. It has been 
accepted for inclusion in Student Posters by an authorized administrator of OUScholars. 
MECP2 and its interaction with Attention Deficit 
Hyperactivity Disorder
Ronelle W. Dorant and Dr. Elaine Vanterpool
Oakwood University
Department of Biological Sciences 
Huntsville AL, 35896
Attention Deficit Hyperactivity Disorder (ADHD) affects individuals in both childhood and adult life. This 
disorder causes executive dysfunction and manifests itself in individuals by making them have difficulty 
focusing attention, impulsivity, and having issues with self-control. Studying the information relating to 
attention deficit hyperactivity disorder is essential because it increases the level of understanding of those 
who are diagnosed, think they may have symptoms, or have people in their lives who experience symptoms. 
The MECP2 gene encodes for the MECP2 protein, which regulates gene activity by modifying chromatin. 
The protein is seen throughout the body but mainly in the central nervous system, which is vital for the 
function and connection of neurons. The Methyl CpG binding protein 2 (MECP2) gene mutation is most 
associated with Rett Syndrome, which is caused by a gene mutation, most seen in girls, that results in 
profound disability in children. However, there are many cases where an individual may have the MECP2 
Rett Syndrome gene but does not display the gene phenotypically, which results in the development of other 
neurodevelopmental disorders like ADHD. This study aims to identify gene variants associated with 
attention deficit hyperactivity disorder, specifically MECP2. In this study, researchers used the Simple 
ClinVar, which identified the MECP2 gene as associated with ADHD. Further analysis of MECP2 revealed 
40 pathogenic mutations, 35 likely benign, and 238 uncertain and conflicting mutations, showing numerous 
ways MECP2 impacts humans. Methods included PolyPhen2 and SIFT, were computational tools that 
helped analyze how much mutations caused by amino acid substitutions affect protein function and 
structure. SWISS modeling showed the protein’s structure. Simple ClinVar has Ala152Val predicted to be 
Pathogenic/ likely pathogenic. The mutation was analyzed in the MECP2 gene using PolyPhen2 (0.064) 
which found that the gene is predicted to be not damaging to protein structure and function.  
ABSTRACT
Symptoms of Attention Deficit Hyperactivity Disorder (ADHD) are caused by 
executive dysfunction and manifest, causing individuals to have trouble with 
focusing attention, impulsivity, and issues with self-control. Studying the 
information relating to attention deficit hyperactivity disorder is essential because 
it increases the level of understanding of those who are diagnosed, think they 
may have symptoms, or have people in their lives who experience symptoms. 
The MECP2 gene is associated with ADHD at a frequency of 2. The MECP2 
gene mutations are most often associated with Rett syndrome; studies show an 
association with other neurodevelopmental disorders, such as ADHD and Autism, 
when a non-coding mutation in the 3’UTR occurs. 
Taking time to analyze the genetic mutations associated with ADHD helps 
individuals have a better understanding of their diagnosis and helps Physicians 
treat them more effectively.
INTRODUCTION
•Using SIFT, programming, Ala152Val acid is predicted to be tolerated with a score of 0.00 meaning that it is very damaging to the protein structure.
•Polyphen 2 predicts that this mutation is predicted to be BENIGN with a score of 0.064 (sensitivity: 0.94;
•Using SIFT, programming, Ala152Val acid is predicted to be tolerated with a score of 0.00 meaning that it is very damaging 
to the protein structure.
•Polyphen- 2 predicts that this mutation is predicted to be BENIGN with a score of 0.064 (sensitivity: 0.94; 
specificity: 0.84).
•SWISS-MODEL of MECP2
RESULTS
The MECP2 protein’s role is to sustain the 
connections in the neurons where cell 
communication occurs. Mutations of the gene 
affect normal brain function. The methyl-
CpG-binding protein 2 (MECP2) gene 
mutation is a loss-of-function mutation that 
leads to Rett syndrome, an X-linked 
neurodevelopmental disorder primarily seen 
in female children. The MECP 2 gene is not 
the primary gene associated with attention 
deficit hyperactivity disorder. The association 
comes from an individual having the gene 
coding for Rett syndrome but not displaying 
the gene phenotypically, which results in the 
development of other neurodevelopmental 
disorders like ADHD. 
DISCUSSION AND 
CONCLUSION
• Niedermeyer E. Frontal lobe disinhibition, Rett syndrome and atNeul, J. L. (2012). The relationship 
of Rett syndrome and MECP2 disorders to autism. Dialogues in Clinical Neuroscience, 14(3), 253–
262. https://doi.org/10.31887/DCNS.2012.14.3/jneul
•tention deficit hyperactivity disorder. Clin Electroencephalogr. 2001 Jan;32(1):20-3. doi: 
10.1177/155005940103200106. PMID: 11202137.
•Thapar A, Stergiakouli E. An Overview on the Genetics of ADHD. Xin Li Xue Bao. 2008 
Aug;40(10):1088-1098. doi: 10.3724/SP.J.1041.2008.01088. PMID: 20396407; PMCID: 
PMC2854824.
•Ta, Daniel, et al. “A Brief History of MECP2 Duplication Syndrome: 20-Years of Clinical 
Understanding.” Orphanet Journal of Rare Diseases, vol. 17, no. 1, Mar. 2022, p. 131. BioMed 
Central, https://doi.org/10.1186/s13023-022-02278-w.
•MECP2 Gene: MedlinePlus Genetics. https://medlineplus.gov/genetics/gene/mecp2/. Accessed 4 
Apr. 2024.
•Ta, Daniel, et al. “A Brief History of MECP2 Duplication Syndrome: 20-Years of Clinical 
Understanding.” Orphanet Journal of Rare Diseases, vol. 17, no. 1, Mar. 2022, p. 131. BioMed 
Central, https://doi.org/10.1186/s13023-022-02278-w.
REFERENCES 
- PolyPhen-2 and SIFT(Sorting Intolerant from Tolerant): 
helped analyze how many mutations caused by amino 
acid substitutions affect protein function and structure.
- SWISS modeling: showed the protein’s structure three-
dimensionally
- Simple Clin Var: was used to show that pos.Ala152Val 
was predicted to be pathogenic/likely pathogenic.
METHODS
Special Thank You to the was 
supported by HBCU 
Undergraduate Program Research 
Grant, Dr. Elaine Vanterpool, PhD 
and my Genetics TA’s. 
ACKNOWLEDGEMENTS  
Conserved Domains and Protein Mapping
SIFT, PolyPhen-2, SWISS MODEL


MECP2 and its interaction with Attention Deficit Hyperactivity Disorder ​

https://ouscholars.oakwood.edu/student-posters/1019/thumbnail.jp

King, Akalya

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
The analysis of variants R43W and S133C in the GATA4 gene in 
(CHD) congenital heart disease 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Akalya King 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and King, Akalya, "The analysis of variants R43W and S133C in the GATA4 gene in 
(CHD) congenital heart disease" (2024). Student Posters. 20. 
https://ouscholars.oakwood.edu/student-posters/20 
This Poster is brought to you for free and open access by the Student Creative Works at OUScholars. It has been 
accepted for inclusion in Student Posters by an authorized administrator of OUScholars. 
The analysis of variants R43W and S133C in the 
GATA4 gene in (CHD) congenital heart disease
Akayla King, Dr.Elaine Vanterpool
Oakwood University, 
Department of Biological Sciences 
Huntsville AL, 35896
Congenital cardiac defects are the source of the symptoms of heart disease. One of 
the most prevalent diseases in neonates is congenital heart disease. This study aims to 
shed light on genetic determinants which are the underlying cause of congential heart 
disease and their symptoms, particularly to congential heart disease. Human disorders 
have been connected to missense mutation genes and cardiac abnormalities in GATA4. 
In both mice and humans, proper heart development and homeostasis depend on the 
zinc transcription factor GATA4. Simple ClinVar was used to identify GATA4 gene that 
was linked to the congential heart disease. Consequently, this gene has a significant 
detrimental impact on the development of the heart. Computational tools like SIFT and 
Polyphen-2 were used to evaluate the pathogenicity of mutations on the protein. The 
protein's structure was determined through the application of SWISS modeling. GATA4 
is a part of the GATA-N superfamily which is the conserved domain. The N-terminal is 
one of the domain hits of GATA and it’s where transcription starts. GATAN is the 
transcription activator family which is represented by this family. The missense 
mutations under study was Ser133Cys and Arg43Trp. Ser133Cys is 0.1 and Arg43Trp 
is 1.0, meaning that it may be harmful. Ser133Cys has a score of 0.09, replacement at 
pos 133 from S-C is where it’s expected to be tolerated, whereas a value 0.00 for 
Ser133Cys indicates that substitution at position 43 from R to W will have an impact 
on protein function. The expression of this gene is predominantly seen in the heart and 
PolyPhen2 predicts R43W to be damaging.
ABSTRACT
Congential means that you’re born with such condition. Congential heart 
diesease (CHD) is one of the causes of childhood diesases and mortality is 
mainly triggered by environmental and genetic factors. Congential heart 
disease in adults and children can change the way blood flows through the 
heart. There are different types of congential heart defects. It’s an 
abnormality in the heart that can develop before birth. Congential heart 
defect is one of the most common types of birth defects. The symptoms 
that may occur is abnormal heart rhythms, shortness of breath, failure to 
feed or develop normally, and swollen body tissue or organs. In addition to 
the heart, GATA4 plays important role in the reproductive system. GATA4 
is a present in many genes and regulates genes involved in embyrogensis
and myocardial differentiation. GATA-4 interacts with many members of 
the splicesome complex in human induced pluripotent stem cell-derived
progenitors. In this study it results in the embryonic stem cells to become
damaging. Congential disease is passed down through birth 1% of the 
time. In this study congential heart diease is causing abnormality in the 
genetic determinants. 
INTRODUCTION
Figure (2b)Arg43Trp variant which is damaging with of a score of 1.000. 
• GATA4 binding protein 4 gene is on chromosome 8 and encodes for various genes known has zinc transcriptional factor that has a 
critical role in cardiac hypertrophy, heart failure. 
• GATA4 binding protein 4 is present in the GATA-N region. This protein is to regulate genes involved in embryogensis and in 
myocardial differentiation. 
• The mutationArg43Trp and Ser133Cys is a missense mutation in GATA4 which is causing pathogenesis in transcription for DNA to 
properly bind to GATA4 protein. 
• Congential heart disease (CHD) is very rarely seen in 1% of live births. 
• Arg43Trp and Ser133Cys variants of the GATA4 is expressed highly in the ovaries. 
• Defects in alternative splicing are associated with many cardiac septal defects yet relatively little is known about the cell type or 
alternative splicing is achieved in the heart. 
• The activation of GATA4 occurs various cell signaling events. The discovery of interactions of GATA4 with nuclear factor for 
activated T cells (NFAT) revealed the importance of calcium signaling in the activation of GATA4. GATA4 can also be 
phosphorylated by mitogen activated protein kinases and protein kinase A. Lysine modifications also occur on the GATA4 molecule 
including acetylation and sumoylation. Both reactive oxygen-dependent and –independent antioxidant-sensitive pathways for 
GATA4 activation. The GATA4 activity is also regulated by modulating the level of GATA4 expression transcriptional as well as
translational mechanisms.
• Mutations in this gene have been associated with ventricular septal defects (VSD) which is a common form of congential heart 
diesase. 
• These findings will impact the medical community by increasing an understanding of the connection between the relationship of 
GATA4 being produced in the reproductive system which would cause the abnormality of the gene determinants among possibly
infants that expressed the GATA4 gene. 
DISCUSSION AND CONCLUSION
B;, Z. Y. F. J. (n.d.). Associations of GATA4 genetic mutations with the risk of congenital heart disease: A meta-analysis. Medicine. https://pubmed.ncbi.nlm.nih.gov/28471988/
Gonzalez-Teran B;Pittman M;Felix F;Thomas R;Richmond-Buccola D;Hüttenhain R;Choudhary K;Moroni E;Costa MW;Huang Y;Padmanabhan A;Alexanian M;Lee CY;Maven BEJ;Samse-Knapp K;Morton 
SU;McGregor M;Gifford CA;Seidman JG;Seidman CE;Gelb BD;Colombo G;Conklin BR;B. (n.d.). Transcription factor protein interactomes reveal genetic determinants in heart disease. Cell. 
https://pubmed.ncbi.nlm.nih.gov/35182466/
Mayo Foundation for Medical Education and Research. (2023, April 21). Congenital heart disease in adults. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/adult-congenital-heart-disease/symptoms-
causes/syc-20355456
CDD conserved protein domain family: Znf_gata (no date) National Center for Biotechnology Information. Available at: https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=238123 (Accessed: 01 April 2024).
GATA4 gata binding protein 4 [homo sapiens (human)] - gene - NCBI (no date) National Center for Biotechnology Information. Available at: https://www.ncbi.nlm.nih.gov/gene?cmd=retrieve&list_uids=2626 (Accessed: 
03 April 2024).
REFERENCES 
• Simple-Clinvar was used in this 
study to observe GATA4 gene in 
congential heart disease.
• Swiss Modeling was used to obtain 
the 3-D model of GATA. 
• PolyPhen-2 was used to predict the 
serio of the gene variations 
associated with GATA4.
• SIFT programming which takes the 
sequence to predict whether an 
amino acid substitution will affect 
the protein function. 
METHODS
This program was supported by Hudson and Alpha Institute for Biotechnology, Biological Science Department at Oakwood Univeristy
and a very special thanks to Elaine Vanterpool, PhD. 
ACKNOWLEDGEMENTS  
SIFT
Poly-Phen
Swiss Modeling
Conserved Domains
Figure (4): 3D structures of GATA4 
Figure (1b) Arg43Trp variant
affecting GATA4 with a score
of 0.00 
Figure (1a) Ser133Cys
variant affecting GATA4 with 
a score of 0.09. 
Figure (2a) Ser133Cys variant which is damaging
0.6. 
Figure (3a) GATA4 being apart of the GATA-N superfamily. GATA-N is one of the domain sites at intervals 1-205, ZnF_GATA at 
intervals 217-267. GATA-N is where transcription activates at N-terminal. Figure (3b) the Zinc finger DNA binding domain binds specially to 
DNA consensus sequence [AT] GATA[AG] 
RESULTS
Figure(3c): graph of 
GATA4 encoding in 
different tissues


The analysis of variants R43W and S133C in the GATA4 gene in (CHD) congenital heart disease

https://ouscholars.oakwood.edu/student-posters/1047/thumbnail.jp

McIntosh, Gabrielle

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
SIM1 and its Association with Diabetes 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Gabrielle McIntosh 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and McIntosh, Gabrielle, "SIM1 and its Association with Diabetes" (2024). Student 
Posters. 35. 
https://ouscholars.oakwood.edu/student-posters/35 
This Poster is brought to you for free and open access by the Student Creative Works at OUScholars. It has been 
accepted for inclusion in Student Posters by an authorized administrator of OUScholars. 
SIM1 and its Association with Diabetes
Gabrielle McIntosh and Elaine Vanterpool, PhD
Oakwood University
Department of Biological Sciences
Huntsville AL, 35896
The significance of this CODE research is to assess the genes related to Diabetes, 
specifically the SIM1 gene and its variants.  Diabetes is a chronic metabolic disorder 
characterized by elevated blood glucose levels. The body uses glucose from food or 
its own internal manufacture as its main energy source.  The pancreas secretes 
insulin, which helps cells absorb glucose so they can use it as fuel. Your body 
produces insufficient insulin or uses it inefficiently if you have diabetes. 
Consequently, instead of entering your cells, glucose stays in your bloodstream. 
Simple ClinVar was utilized to identify the gene related to diabetes, SIM1, and 
provided a list of the variants associated with it. Specific SIM1 variants were 
analyzed using SIFT and Polyphen. The Swiss Model was used to illustrate a 3-
Dimensional protein structure of the SIM1 gene. The missense mutations analyzed 
include Asp 707 His, Gln 704 Leu, and Lys708Arg. It was revealed that Asp 707 His 
and Gln 704 Leu were "probably damaging" and most likely pathogenic, while 
Lys708Arg was deemed as benign, likely having no impact on protein. The SIM1 
gene, akin to the Drosophila sim gene, is associated with both monogenic and 
syndromic obesity. Understanding its role sheds light on the intricate relationship 
between obesity, genetics, and the increased risk of developing type 2 diabetes. 
Comprehending the genetic makeup of diabetes, particularly the function of the 
SIM1 gene, is essential for customized care, risk evaluation, medication 
development, and the influence on public health.
ABSTRACT
Diabetes is a chronic disease that occurs when your blood glucose (blood sugar) levels are too high. 
The main source of energy in the body is glucose, which is obtained from meals. For cells to absorb 
glucose and use it as fuel, the pancreas secretes insulin. If you have diabetes, your body uses insulin 
inefficiently or creates insufficient amounts of it. Therefore, glucose stays in your bloodstream 
rather than going into your cells.  The three main types of diabetes include: Type 1, which is caused 
by an autoimmune reaction in which the immune system attacks the cells in the pancreas that 
produce insulin by mistake; Type 2, in which the body cannot maintain normal blood sugar levels 
due to insufficient insulin use; and Gestational Diabetes, which develops during pregnancy and 
typically goes away after giving birth. An estimated 2 million fatalities were attributed to diabetes 
and renal disease in 2019. Before the age of 70, 48% of all diabetes-related deaths took place. 
Approximately 8.5% of persons who were 18 years of age or older had diabetes. Sedentary lifestyle, 
high blood pressure, obesity, and family history are risk factors. All age groups are susceptible to 
diabetes, including adults (type 2) and children (type 1). Symptoms can differ, but typical 
indications include: An excessive amount of thirst, frequent urination, blurry vision, exhaustion, 
and unintentional loss of weight.
Diabetes is diagnosed using a number of tests: A1C Test, which determines the mean blood sugar 
levels throughout the previous two to three months, Random Blood Sugar Test that Identifies 
elevated blood sugar levels independent of meal timing, Blood sugar levels are measured via a 
fasting blood test following an overnight fast and the glucose tolerance test involves a two-hour fast, 
a sugary drink, and blood sugar readings. Diabetes can be prevented by eating healthy, exercising 
and avoiding any tobacco use. Treatments for diabetes include: Insulin injections (type 1) or oral 
medications (type 2), and/or regular blood sugar monitoring and screening for complications.
SIM1 is a gene known as “single-minded.”It is essential for neurogenesis, especially in the 
hypothalamic paraventricular nucleus (PVN). Blood pressure control and energy balance depend on 
the PVN. SIM1 collaborates with the transcription factors Swi5 and Mcm1 to start CLN3 
transcription, and its expression peaks during the G2 phase of the cell cycle. Hyperphagic obesity 
and increased sensitivity to a high-fat diet are the outcomes of Sim1 deficiency. According to a study, 
there is a consistent correlation between common variation in SIM1 and body mass index (BMI). 
Potential implications for metabolic health are suggested by SIM1's involvement in energy balance 
and obesity.
INTRODUCTION
RESULTS
According to the findings of this study it can be concluded that SIM1 can be associated with 
diabetes. The data collected from Polyphen predicts that these missense mutations, Asp 707 His and 
Gln 704 Leu, were “possibly/probably damaging,” showing a strong possibility of protein 
modification. It was determined that Lys708Arg was benign,  likely having no effect on protein.
Based on the results from SIFT all the missense mutations(Asp 707 His, Gln 704 Leu and 
Lys708Arg) are shown to “Affect protein function,” despite the warning of low confidence, 
attributing to the possibility being pathogenic.
Diabetes is a common disease that affects many people on a daily basis. Currently, there is still no 
cure for Type 2 diabetes. SIM1 may not be directly connected to the disease based on the research 
done so far by others, but its primary association with obesity, and involvement in energy regulation 
and neurogenesis may indirectly impact diabetes. Knowing its function clarifies the complex 
interplay between heredity, fat, and the elevated risk of type 2 diabetes, potentially leading to a cure.
DISCUSSION AND CONCLUSION
- CDC. (2023a, November 12). Type 2 diabetes. Centers for Disease Control and Prevention. https://www.cdc.gov/diabetes/basics/type2.html
- CDC. (2023b, November 21). Diabetes tests. Centers for Disease Control and Prevention. https://www.cdc.gov/diabetes/basics/getting-tested.html
- Diabetes. (2024, March 27). Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/diabetes/symptoms-causes/syc-20371444
- What is diabetes? (2023, October 9). National Institute of Diabetes and Digestive and Kidney Diseases; NIDDK - National Institute of Diabetes and Digestive 
and Kidney Diseases. https://www.niddk.nih.gov/health-information/diabetes/overview/what-is-diabetes
- (N.d.). Sciencedirect.com. Retrieved April 26, 2024, from https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-
biology/sim1#:~:text=SIM1%20is%20a%20bHLH%2FPAS,pressure%20regulation%20(Michaud%20et%20al.
REFERENCES 
• Simple ClinVar to identify the genes associated with diabetes, as well as the 
variants of SIM1
• Polyphen and SIFT were used to analyze specific variants of SIM1
• SWISS model was used to illustrate the protein folding of the normal SIM1 
gene and the mutated SIM1 gene
• NCBI was used to identify the organs where the gene is most expressed
METHODS
I would like to thank Dr. Vanterpool for being very supportive and 
caring during this process. I would also like to acknowledge both of my 
grandmothers' who have Type 2 diabetes and are still standing strong.
ACKNOWLEDGEMENTS  
MODEL OF SIM1 PROTEIN
POLYPHEN
CONSERVED DOMAIN
The PAS fold corresponds to the structural domain 
that has previously been defined as PAS and PAC 
motifs. The PAS fold appears in archaea, eubacteria 
and eukarya.
SIFT
LOCATION OF 
EXPRESSION


SIM1 and its Association with Diabetes​

https://ouscholars.oakwood.edu/student-posters/1056/thumbnail.jp

Martin, Morayna

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
Analysis of SLX4 Gene in Breast Cancer 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Morayna Martin 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and Martin, Morayna, "Analysis of SLX4 Gene in Breast Cancer" (2024). Student 
Posters. 52. 
https://ouscholars.oakwood.edu/student-posters/52 
This Poster is brought to you for free and open access by the Student Creative Works at OUScholars. It has been 
accepted for inclusion in Student Posters by an authorized administrator of OUScholars. 
Analysis of SLX4 Gene in Breast Cancer
Morayna Martin and Elaine Vanterpool, PhD
Oakwood University
Department  of Biological Sciences
Huntsville AL, 35896
ABSTRACT
INTRODUCTION
RESULTS
DISCUSSION AND 
CONCLUSION
REFERENCES 
METHODS
ACKNOWLEDGEMENTS  
Breast cancer is a type of cancer that begins in the cells of the breast. It can occur 
in both men and women, although it is much more common in women. Breast 
cancer can develop in various parts of the breast, including the ducts that carry 
milk to the nipple (ductal carcinoma), the glands that produce milk (lobular 
carcinoma), or in other cells within the breast. The objective of this study is to 
identify the gene variants associated with breast cancer. Simple-ClinVar was used 
to identify the gene, SLX4. SLX4 is a type of gene that provides instructions for 
making structure-specific endonucleases and other proteins involved in the repair 
of DNA interstrand cross-links. Due to its vital role in DNA repair, pathogenic 
mutations in SLX4 may have detrimental effects, including significant DNA 
damage, an increased cancer risk, and many other physical abnormalities. The 
computational prediction tools, SIFT and PolyPhen2, were used to analyze the 
possible pathogenic mutations in protein function. PolyPhen2 predicted that the 
mutation is possibly damaging with a score of 1.000.  The SWISS MODEL tool 
was used to acquire information on the protein structure. Understanding more 
about SLX4 and all of its processes can provide further insights into cancer 
development and potential treatments in the future.
Breast cancer currently stands as the most prevalent form of cancer, 
impacting women across all races and ethnicities globally. Within the 
United States, statistics reveal that 1 in 8 women will face a breast 
cancer diagnosis during their lifetime, with varying incidence and 
mortality rates observed among different racial groups.
The analysis of the SLX4 gene is important in order to speculate the 
error occurring which inhibits SLX4 from properly repairing defective 
DNA and maintaining genomic stability. Understanding more about 
SLX4 can provide insights into cancer development and potential 
treatment options in the future.
Simple ClinVar was a program used to make initial observations of the 
SLX4 genes presence in breast cancer.
PolyPhen2 was used to predict the pathogenicity of the mutations in 
the SLX4 gene.
SIFT was a program that used the sequence homology to make 
predictions as to whether an amino acid substitution would affect 
protein function.
Swiss Modeling produced an animated replica of the protein structure.
• Alghoul E;Paloni M;Takedachi A;Urbach 
S;Barducci A;Gaillard PH;Basbous J;Constantinou 
A; (n.d.). Compartmentalization of the sumo/RNF4 
pathway by SLX4 drives DNA repair. Molecular 
cell. https://pubmed.ncbi.nlm.nih.gov/37059091/ 
• Wilson, J. (2022, October 24). Disparity in early 
detection of breast cancer. StatPearls [Internet]. 
https://www.ncbi.nlm.nih.gov/books/NBK564311/ 
This research project was supported by HBCU-
Undergraduate Program Research and Elaine 
Vanterpool, PhD
• The SLX4 protein plays a critical role in several 
major DNA repair pathways. These include the 
repair of DNA crosslinks and the resolution of 
Holliday junctions. These processes are important 
for maintaining the integrity of the genome, 
preventing mutations, and ensuring proper cell 
division.
• Mutations in the SLX4 gene can lead to numerous 
types of conditions, including Fanconi anemia, 
which is a rare inherited disorder characterized by 
bone marrow failure, increased cancer risk, 
specifically breast cancer, and many other physical 
abnormalities. Individuals containing a mutation in 
the SLX4 gene are more susceptible to DNA 
damage because their cells are far less efficient at 
repairing damage. An accumulation of mutations 
over time is what ultimately  causes such an 
increased risk of cancers and other health 
problems.
Gene Identification
SLX4 is a type of gene that provides instructions for making structure-specific endonucleases and other 
proteins involved in the repair of DNA interstrand cross-links. The SLX4 protein is part of a complex of 
proteins that work together to ensure the stability of the genetic material within the cells. 
Protein Homology
Prediction of Pathogenicity: PolyPhen2 Analysis
Conserved Domains
Normal Protein                                    Mutated Protein  
                             
“SLX4, also called BTB/POZ domain-containing protein 12 (BTBD12), is a Holliday junction resolvase subunit 
that binds multiple DNA repair/recombination endonucleases and is required for DNA repair. Mutations in the 
SLX4 gene are found in Fanconi anemia. This model corresponds to a conserved region called the SAP 
domain, which is responsible for the binding of MUS81, which plays a distinct role in interstrand crosslink 
repair” (National Library of Medicine).
“The Slx4 protein is a heteromeric structure-specific endonuclease found from fungi to mammals. Slx4 with 
Slx1 acts as a nuclease on branched DNA substrates, particularly simple-Y, 5'-flap, or replication fork 
structures by cleaving the strand bearing the 5' non-homologous arm at the branch junction and thus 
generating ligatable nicked products from 5'-flap or replication fork substrates”(National Library of Medicine).
                                                                                                                
PolyPhen2 predicted that the mutation is 
possibly damaging with a score of 
1.000, a


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The analysis of variants R43W and S133C in the GATA4 gene in (CHD) congenital heart disease

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