OUScholars Oakwood University

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Harmon Lindsay

https://ouscholars.oakwood.edu/student-posters/1023/thumbnail.jp

Vanterpool, Elaine

Burnett, Madison

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
Analysis of APOE Variants in Onset of Alzheimer’s Disease 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Madison Burnett 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and Burnett, Madison, "Analysis of APOE Variants in Onset of Alzheimer’s Disease" 
(2024). Student Posters. 12. 
https://ouscholars.oakwood.edu/student-posters/12 
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 APOE Variants in Onset of Alzheimer’s Disease
Madison Burnett and Elaine Vanterpool, PhD
Oakwood University
Department of Biological Sciences
Huntsville AL, 35896
Alzheimer’s disease is a disease characterized by memory loss and cognitive decline. This is 
the most common form of dementia. Alzheimer’s is the 5th leading cause of death in humans, 
as it currently has no cure. Individuals who carry the APOE (Apolipoprotein E) gene, 
specifically APOE 4, have an increased risk of developing late-onset Alzheimer’s disease. 
The purpose of this study is to analyze specific mutations in the APOE gene to determine if 
they may contribute to the onset of Alzheimer’s disease. A web server database called 
Simple Clinvar was used to acquire information and statistics concerning Alzheimer’s 
disease and the different genetic variants associated with the disease. The SIFT algorithm 
was used to predict whether the changes in amino acid sequences of the APOE gene were 
deleterious. PolyPhen was another prediction algorithm used to predict the influence that 
amino acid substitutions have on the expression and function of proteins. Apolipoprotein E 
(APOE) regulates lipid transport between cells and tissues in the body. APOE belongs to the 
Apolipoprotein superfamily, which consists of Apolipoprotein A-I, Apolipoprotein A-IV, and 
Apolipoprotein E. The conserved domains occur on the 1-176 interval. The Arg154Ser 
mutation was predicted to be probably damaging with a PolyPhen score of 0.850/1.0. The 
Arg152Gln mutation was predicted to be benign, with a PolyPhen score of 0.452/1.0. The 
substitution from Arg to Ser at position 154 is predicted to affect protein function with a 
score of 0.02. The substitution from Arg to Gln at position 152 is predicted to be tolerated 
with a score of 0.54. APOE is associated with multiple conditions in addition to Alzheimer’s 
disease, such as age-related muscular degeneration 1, familial type 3 hyperlipoproteinemia, 
lipoprotein glomerulopathy, major depressive disorder, and sea-blue histiocyte syndrome. 
The expression of the mutations is found to be correlated with an increased risk of 
developing Alzheimer’s disease.
ABSTRACT
There are multiple factors that contribute to the onset of 
Alzheimer’s disease. These include genetic causes, 
environmental factors, and lifestyle choices. Apolipoprotein 
E (APOE) is a gene that is associated with the onset of 
Alzheimer’s disease. There are 3 main alleles of the APOE 
gene: apolipoprotein E 3 (APOE 3), apolipoprotein E 2 
(APOE 2), and apolipoprotein E 4 (APOE 4). Expression of 
APOE 2 corresponds to a decreased risk of Alzheimer’s 
disease, but it is associated with cardiovascular hemorrhages 
and complications. APOE 3 is the most common APOE 
allele, and it neither increases nor decreases the risk of 
Alzheimer’s disease. APOE 4 has the highest risk factor for 
the onset of Alzheimer’s disease. Individuals with two copies 
of the APOE 4 allele have a greater chance of developing 
Alzheimer’s disease. This condition is characterized by 
progressive memory loss due to the death of neurons and a 
decline in brain health. Evidence suggests that there is a 
higher risk of developing AD when there is an interaction 
between APOE and amyloid beta peptide (Aβ). APOE 
degrades amyloid β to form amyloid plaques, which directly 
increases the pathogenesis of Alzheimer’s disease. The aim 
of this study is to gain insight into the effect that variants of 
the APOE gene have on the onset of Alzheimer’s disease.
INTRODUCTION
RESULTS
This study observed that the expression of apolipoprotein E gene mutations can affect protein 
function and ultimately increase the risk of developing Alzheimer’s disease. The Arg154Ser 
mutation was found to be potentially damaging and thus have an altering effect on protein 
function. A change in protein function can be damaging to an organism because it can alter 
cellular processes and overall capabilities. Mutated isoforms of APOE can bind stronger to 
amyloid beta peptide. This increases the likelihood of amyloid plaque formation from the 
deposition of amyloid beta. The accumulation of amyloid plaques can interrupt the synapses in 
the brain, which prevents cell signaling vital to carrying out cellular processes. Future studies 
could potentially focus on targeting the APOE-amyloid beta interaction to prevent the formation 
of amyloid plaques. The findings from this study could be used to help the medical community 
possibly find a way to limit the effects of Alzheimer’s disease by maintaining the synapses of 
neurons in the brain.
DISCUSSION AND CONCLUSION
Alzheimer’s Disease Genetics Fact Sheet. (n.d.). National Institute on Aging. https://www.nia.nih.gov/health/genetics-and-family-history/alzheimers-disease-genetics-fact-sheet#five
Heise, V., Offer, A., Whiteley, W., Mackay, C. E., Armitage, J. M., & Parish, S. (2024). A comprehensive analysis of APOE genotype effects on human brain structure in the UK Biobank. Translational psychiatry, 14(1), 143. https://doi.org/10.1038/s41398-024-02848-5 
Hunsberger, H. C., Pinky, P. D., Smith, W., Suppiramaniam, V., & Reed, M. N. (2019). The role of APOE4 in Alzheimer's disease: strategies for future therapeutic interventions. Neuronal signaling, 3(2), NS20180203. https://doi.org/10.1042/NS20180203 
Liu, C. C., Liu, C. C., Kanekiyo, T., Xu, H., & Bu, G. (2013). Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy. Nature reviews. Neurology, 9(2), 106–118. https://doi.org/10.1038/nrneurol.2012.263
Wisniewski, T., & Drummond, E. (2020). APOE-amyloid interaction: Therapeutic targets. Neurobiology of disease, 138, 104784. https://doi.org/10.1016/j.nbd.2020.104784 
Kanekiyo, T., Xu, H., & Bu, G. (2014). ApoE and Aβ in Alzheimer's disease: accidental encounters or partners?. Neuron, 81(4), 740–754. https://doi.org/10.1016/j.neuron.2014.01.045
REFERENCES 
•Simple Clinvar was used to identify APOE 
as a gene associated with AD. This program 
also highlighted the various missense 
mutations that corresponded to APOE.
•SIFT (Sorting Intolerant From Tolerant) 
algorithm used to predict the outcome of 
amino acid substitutions on the function of 
proteins encoded by the APOE gene.
•PolyPhen was used to predict the severity of 
gene variations associated with APOE.
•A 3D-model was created using SWISS 
Model to display the mutations of the APOE 
gene.
METHODS
I would like to thank NSF, Hudson Alpha Institute for Biotechnology, and 
Oakwood University. I would especially like to thank Dr. Elaine Vanterpool.
ACKNOWLEDGEMENTS  
PolyPhen-2
Figure 1(a). PolyPhen prediction for variant Arg to Ser 
at position 154.
Figure 1(b). PolyPhen prediction for variant Arg to Gln 
at position 152.
SIFT
Figure 2(a).  SIFT  prediction that Arg154Ser has an 
effect on protein function with a score of 0.02.
Figure 2(b).  SIFT  prediction that Arg152Gln has a 
tolerated effect on protein function with a score of 0.54.
SWISS Model Conserved Domains
Figure 3.  3D configuration of the protein encoded by 
the apolipoprotein E (APOE) gene.
Figure 4 (a).  APOE belongs to the Apolipoprotein 
superfamily which is associated with lipid transport.
Figure 4 (b).  APOE has an N-terminal domain containing 
the receptor binding region and a C-terminal region 
containing the lipid-binding region.


English

Analysis of APOE Variants in Onset of Alzheimer’s Disease

https://ouscholars.oakwood.edu/student-posters/1018/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. 16. 
https://ouscholars.oakwood.edu/student-posters/16 
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,PhD
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 congenital heart 
disease and their symptoms, particularly congenital heart disease. Human disorders 
have been connected to missense mutation genes and cardiac abnormalities in GATA4. 
Simple ClinVar was used to identify GATA4 gene that was linked to the congenital 
heart disease. Consequently, this gene has a significant detrimental impact on the 
development of the heart. Software tools like SIFT and Poly-Phen were used to find 
potential pathogen mutations within the function of the protein. The protein's structure 
was determined through the application of Swiss modeling. GATA4 is part of the 
GATA-N superfamily which is the conserved domain. The N-terminal domain of the 
GATA transcription activator family is represented by this family. The missense 
mutations under study were 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 seen in the heart and PolyPhen 
predicts that the mutation is likely harmful, giving ser131cys a score of 0.990. With a 
score of 1.000, the projected for R43W is expected to be certainly harmful. The genetic 
variants R43W show an uncertain and conflicting mutation and S133C shows a 
pathogenic mutation which means there is a missense mutation occurring which is 
affecting genes to be properly expressed. Resulting into cells becoming damaged.
ABSTRACT
Congential heart diesease (CHD) is one of the causes of childhood
diesases and mortality is mainly triggered by environmental and genetic
factors. Congential means that you’re born with such condition.
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. GATA4 gene serves has a cardiac transcriptonal factor critical role
in the cardiac development that plays a role in cardiac development. The
genetic variants R43W shows a uncertain and conflicting mutation and
S133C shows a pathogenic mutation which means there is a missense
mutation occurring which is affecting genes to be properly expressed.This
results in the cells becoming damaged. Congential disease is passed down
through birth 1% of the time. In this case congential heart diease is causing
abnormality in genetic determinants.
INTRODUCTION
. 
• The GATA4 gene is an zinc transcriptional factor that helps
the development in the heart. 
• Congential heart disease (CHD) is very rarely seen in 1% of
live births. Identification of casual mutations remains
challenging. Genetic determinants for CHDs may lie in the
protein interactomes of transcription factors whose mutations
cause CHDs. 
• The gene GATA4 that is moderately expressed in the
congential heart disease has been seen to have scoring
variants in the cardiac developmental genes.
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).
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 the National Science foundation and iSTEM-CARE from the Department of
Education. Biological Science Department at Oakwood University and a very special thanks to Elaine 
Vanterpool, PhD. HBCU UP TIP grant and iSTEM-CARE
ACKNOWLEDGEMENTS  
SIFT
Poly-Phen2 Analysis
SWISS Model Analysis
Conserved Domains
Figure 4a the 3D 
structures of GATA4 
Figure (1a) Arg43Trp variant affecting
GATA4 with a score of 0.00 
Figure (1b) Ser133Cys variant
affecting GATA4 with a score of 0.09. 
Figure (2b) 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 (2a)Arg43Trp variant which is
damaging with of a score of 1.000. 


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

https://ouscholars.oakwood.edu/student-posters/1034/thumbnail.jp

Johnson, Katherine

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
Analysis of the AURKA gene in Colon Cancer 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Katherine Johnson 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and Johnson, Katherine, "Analysis of the AURKA gene in Colon Cancer" (2024). Student 
Posters. 22. 
https://ouscholars.oakwood.edu/student-posters/22 
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accepted for inclusion in Student Posters by an authorized administrator of OUScholars. 
Analysis of the AURKA gene in Colon Cancer
Katherine Johnson and Elaine Vanterpool, PhD
Oakwood University
Department of Biological Sciences
Huntsville AL, 35896
Colon cancer is when there is a growth of cells located in the colon. It starts 
off in polyps, which are noncancerous growths. Symptoms of colon cancer 
may include things such as discomfort and pain in the abdomen region, 
rectal bleeding, massive amounts of weight loss, diarrhea or constipation. 
The purpose of this study is to analyze the AURKA gene and its relationship 
to colon cancer. The methods I used in this study include; Simple Clinvar, 
this was used to determine the gene, Swish model pro, pictures of protein, 
SIFT, predicted whether mutation would affect protein function, Polyphen, 
helped determine whether or not mutation would be pathogenic. The protein 
encoded by this gene is a cell cycle-regulated kinase that appears to be 
involved in microtubule formation and/or stabilization at the spindle pole 
during chromosome segregation. This gene may play a role in tumor 
development and progression. [provided by RefSeq, Jul 2008] Aurora 
kinase A is a serine/threonine-protein kinase that catalyzes the transfer of 
the gamma-phosphoryl group from ATP to serine/threonine residues on 
protein substrates, and functions as a regulator of mitosis. There is only one 
missense gene associated. Substitution at pos 346 from F to L is predicted to 
be TOLERATED with a score of 0.86 with a Median sequence 
conservation: 2.99 and Sequences represented at this postion:47. This 
mutation is predicted to be BENIGN with a score of 0.009 with a sensitivity 
of 0.96 and specificity 0.77. The full name of the gene is AURKA aurora 
kinase A. The type of the gene is SNV, the consequence is missense. This 
impact shows the effects the missense mutation of the AUKRA gene on 
colon cancer, this information can lead researches to displaying ways to 
stop the mutation and see how that can help with colon cancer. 
ABSTRACT
The Research being done is on colon cancer. Colon cancer is 
when there tends to be a growth of cells that are located in the 
colon. The colon is located in the abdominal region, below the 
stomach. Colon Cancer starts off in noncancerous growths called 
polyps. Symptoms of colon cancer may include things such as 
discomfort and pain in the abdomen region, rectal bleeding, 
massive amounts of weight loss, diarrhea or constipation. Certain 
symptoms of this cancer depend on the size and location of the 
cancer. The main cause for colon cancer is due to environmental 
exposures, this being things such as a persons diet. In most 
cases colon cancer is found when a person goes under the 
procedure of a colonoscopy. Colon cancer is a vey curable 
disease and is usually only life threatening when it is a 
reoccurring event. 
INTRODUCTION
RESULTS
The full name of the gene is AURKA aurora 
kinase A. The type of the gene is SNV, the 
consequence is missense. This impact shows 
the effects the missense mutation of the 
AUKRA gene on colon cancer, this 
information can lead researches to displaying 
ways to stop the mutation and see how that can 
help with colon cancer. 
DISCUSSION AND 
CONCLUSION
•MayoClinic. https://www.mayoclinic.org/diseases-conditions/colon-cancer/symptoms-
causes/syc-
20353669#:~:text=Symptoms%20of%20colon%20cancer%20can,as%20cramps%2C
%20gas%20or%20pain.
•Colon cancer. Pfizer. (n.d.-c). https://www.pfizer.com/disease-and-conditions/colon-
cancer#:~:text=Overall%2C%20about%2090%25%20of%20colorectal,before%20a%2
0patient%20was%20diagnosed.
•Colon cancer treatment (PDQ®). National Cancer Institute. 
(n.d.). https://www.cancer20of.gov/types/colorectal/hp/colon-treatment-
pdq#:~:text=Cancer%%20the%20colon%20is,the%20ultimate%20cause%20of%20de
ath
•Shan, B., Zhao, R., Zhou, J., Foundation for Medical Education and Research. (2023, 
July 27). Colon cancer. Mayo Zhang, M., Qi, X., Wang, T., Gong, J., Wu, Y., Zhu, Y., 
Yang, W., Zhang, Y., Wang, G., & Li, X. (2020, August 10). Aurka increase the 
chemosensitivity of colon cancer cells to oxaliplatin by inhibiting the TP53-mediated 
DNA damage response genes. BioMed research 
international. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7439175/#:~:text=AURKA
%20functions%20as%20an%20oncogene,instability%20%5B23%2C%2024%5D.
•U.S. National Library of Medicine. (n.d.). Aurka Aurora kinase a [homo sapiens 
(human)] - gene - NCBI. National Center for Biotechnology 
Information. https://www.ncbi.nlm.nih.gov/gene/6790
REFERENCES 
The methods I used in this study include; 
Simple Clinvar, this was used to determine 
the gene. Swish model pro, this is where I 
received the pictures of protein. SIFT, this 
was used to help with predicting whether 
mutation would affect protein function. 
Polyphen, which helped determine whether 
or not mutation would be pathogenic. 
METHODS
I would like to acknowledge Oakwood Biology Department and Dr. Elaine Vanterpool for their help 
and assistance in this research.  
ACKNOWLEDGEMENTS  
SIFT Polyphen
Simple Clinvar
Swiss Model Pro
Model 1
Model 2
Model 3


Analysis of the AURKA gene in Colon Cancer​

https://ouscholars.oakwood.edu/student-posters/1043/thumbnail.jp

Daly, Johnathan

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
Analysis of ABCA7 in Alzheimer 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Johnathan Daly 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and Daly, Johnathan, "Analysis of ABCA7 in Alzheimer" (2024). Student Posters. 39. 
https://ouscholars.oakwood.edu/student-posters/39 
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 ABCA7 in Alzheimer 
Johnathan Daly and Elaine Vanterpool, PhD
Oakwood University
 Department of Biological Sciences
Huntsville AL, 35896
Alzheimer's disease (AD) is a progressive neurological condition that presents a significant global health 
concern, impacting millions of people worldwide. The causes of AD are intricate and involve a mix of 
genetic and environmental factors. One noteworthy genetic factor is the ATP-binding cassette transporter A7 
(ABCA7) gene, which plays a crucial role in the disease's onset and advancement. This analysis offers a 
thorough review of the ABCA7 gene's involvement in AD, focusing on its influence on lipid metabolism, 
immune response modulation, and amyloid-beta processing. Furthermore, it delves into the effects of 
specific mutations in the ABCA7 gene and their potential role in disease progression. The study also 
examines the expression patterns of the ABCA7 gene in various tissues, highlighting its diverse functions in 
human health. While our understanding grows, further research is necessary to fully grasp how the ABCA7 
gene contributes to Alzheimer's disease at the molecular level, with the aim of developing innovative 
treatments targeting this gene and its pathways. Results indicate that the ABCA7 protein features conserved 
domains, including two nucleotide-binding domains (NBDs) and two transmembrane domains (TMDs), 
which are vital for its function.
ABSTRACT
Alzheimer's disease (AD) is a complex 
neurodegenerative disorder influenced by genetic and 
environmental factors, leading to cognitive decline and 
affecting millions globally. While progress has been made 
in understanding AD's molecular pathways, effective 
therapies are still lacking. Genetic risk factors like APOE 
ε4, PSEN1, PSEN2, APP, and ABCA7 offer insights into 
AD's mechanisms. This review examines AD's genetic, 
molecular, and cellular processes and potential 
therapeutic strategies, emphasizing the need for a 
comprehensive approach to treatment.
INTRODUCTION
RESULTS
Conclusion The study's results indicate that the ABCA7 gene plays 
a pivotal role in the progression of Alzheimer's disease by affecting 
lipid metabolism and regulating immune responses. Mutations in 
the ABCA7 gene, particularly missense mutations, have the 
potential to disrupt its function and contribute to disease 
development. The gene's expression patterns across different 
organs suggest that it may have diverse functions, necessitating 
further exploration. Moreover, the ABCA7 gene's involvement in 
other diseases like age-related macular degeneration and 
cardiovascular diseases suggests broader implications for human 
health. More research is required to uncover the precise molecular 
mechanisms by which the ABCA7 gene influences Alzheimer's 
disease and related conditions, which could lead to the 
development of innovative treatment approaches. Despite 
advances in understanding the molecular underpinnings of AD and 
identifying genetic risk factors, its exact causes remain elusive, and 
effective disease-modifying therapies are still lacking. A 
comprehensive approach targeting various aspects of AD, 
including Aβ production, neuro - inflammation, oxidative stress, 
and impaired energy metabolism, is necessary. Developing novel 
therapeutic strategies, combined with personalized medicine 
approaches, is essential for revolutionizing AD management and 
enhancing the quality of life for patients and their families.
like APOE ε4, PSEN1, PSEN2, 
APP, and ABCA7 offer insights 
into AD's mechanisms. This 
review examines AD's genetic, 
molecular, and cellular processes 
and potential therapeutic 
strategies, emphasizing the need 
for a comprehensive approach to 
treatment.DiGeorge and 
CATCH22. Alternatively spliced 
transcript variants
encoding different isoforms have 
been found for this gene. 
[provided
by RefSeq, Aug 2010]
DISCUSSION AND 
CONCLUSION
https://www.ncbi.nlm.nih.gov/clinvar/variation/4012/
https://pubmed.ncbi.nlm.nih.gov/38255788/
REFERENCES 
Simple ClinVar Identifed genes 
SIFT  and PolyPhen 2 were utilized to 
analyze variants 
Swiss Moswl was used to illustrate the 
protein striuctures 
METHODS
ACKNOWLEDGEMENTS  
This project was 
supported by 
Oakwood’s  TIP HBCU 
UP program. Scpeacial 
thanks to Dr. 
Vanterpool, PhD
G
                PROTEIN MAPPING
Polyphen 2               Gene Expression 
SWISS Pro Model  Conserved Domain     
mapping


Analysis of ABCA7 in Alzheimer

https://ouscholars.oakwood.edu/student-posters/1040/thumbnail.jp

Woods, Megan

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
Analysis of the SEC63 Gene Variants in Polycystic Liver Disease 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Megan Woods 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and Woods, Megan, "Analysis of the SEC63 Gene Variants in Polycystic Liver Disease" 
(2024). Student Posters. 42. 
https://ouscholars.oakwood.edu/student-posters/42 
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. 
Polycystic liver disease is caused by a mutation in the SEC63 gene and can be 
enhanced by age, female sex, prior use of exogenous estrogens and multiple 
pregnancies. Carriers of polycystic liver disease have normal liver function unless 
their condition is coupled with another form of chronic liver disease. Despite having 
normal liver function, carriers experience lack of appetite and pain due to having an 
enlarged liver. Carriers experiencing polycystic liver disease will often experience 
polycystic kidney disease in tandem. Examining the SEC63 gene will provide a 
much-needed understanding of liver cysts and their role in the progression of 
chronic liver disease. This study used Simple Clinvar, Polyphen2, SIFT, and Swiss 
Model Prot to identify and analyze mutations. The SEC63 gene is part of the protein 
translocation apparatus in the endoplasmic reticulum membrane. The SEC63 is 
specifically involved in post-translational protein translocation into the ER and 
assists in the backwards transport of ER proteins that assist in the ubiquitin-
proteasome-dependent degradation. PolyPhen-2 and SIFT predict SEC63 variants 
Lys375Arg and Arg125His as pathogenic.  Researchers believe that the mutation of 
the SEC63 gene leads to the formation of polycystic liver disease 1 and 2 which can 
lead to the progression of chronic liver disease.  These findings can assist future 
researchers in understanding the relationships between SEC63 and liver disease 
development to better assist carriers and future carriers.
ABSTRACT
Po
Polycystic liver disease is rare genetic disorder that results in normal liver tissue 
being replaced by fluid-filled liver cysts. Polycystic liver disease can be in isolation 
or will be present in the kidney and known as autosomal dominant polycystic 
kidney disease. The genetic disorder will result in normal liver function, but 
carriers will experience lack of appetite and pain associated with an enlarged 
liver. Patients with isolated polycystic liver disease will rarely need liver 
transplantation, in contrast those with autosomal dominant polycystic kidney 
disease will need kidney transplantation. The source of polycystic liver disease is 
unknown but is associated with advanced age, female sex, prior use of exogenous 
estrogens, and multiple pregnancies. The development of polycystic liver disease 
is often not detected to due to lack of symptoms and the ability to distinguish 
polycystic liver disease from autosomal dominant kidney disease. 
   The analysis of the genes involved with polycystic liver disease will provide 
necessary information on the gene’s effect and role in disease. Many genes are 
involved in the expression of liver disease. Genes in high frequency, such as 
SEC63 have an impact on liver disease because the disease stems from a genetic 
mutation. 
This study aims to determine the role that the SEC63 gene plays in the 
development of polycystic liver disease. The SEC63 gene is  associated in post-
translocational protein translocation in the endoplasmic reticulum. The 
endoplasmic reticulum is responsible for the packing of lipids and proteins within 
the cell. 
INTRODUCTION
TY 
The SEC63 gene is apart of the SEC61 complex that plays an essential role in the protein translocation apparatus of the endoplasmic reticulum
membrane. The SEC63 gene specifically is involved in post-translocational protein translocation into the endoplasmic reticulum. The endoplasmic 
reticulum is responsible for the packaging of proteins and lipids. The smooth endoplasmic reticulum controls the synthesis and packing of lipids. 
The rough endoplasmic reticulum is responsible for the packing of proteins for the transportation to the plasma membrane. 
There are 13 missense mutations in the SEC63 gene that impact the post-translocational protein translocation into the endoplasmic reticulum. 
An analysis was done on Ala151Val and Arg125His due to be conflicting when an analysis was done on Simple Clinvar.  
• The SIFT analysis showed that Ala151Val acid is predicted to be tolerated with a score of 0.41. 
• The PolyPhen2 analysis predicted to be probably damaging with a score of 0.999.
• The SIFT analysis showed that Arg125His acid is predicted to affect protein function with a 0.00. 
• The PolyPhen2 analysis predicted to be benign with a score of 0.027. 
  
RESULTS
• Due to the conflicting nature the SEC63 mutations further analysis should be completed to determine how mutations that border the conserved 
domains impact protein folding. 
• The Arg125His mutation would need to be furthered studied due to being in between the conserved domains. Despite not being included within the 
domain, it’s impact on protein folding could be significant in the determination of a polycystic liver disease diagnosis. 
• The Ala151Val mutation should also be further studied due to its proximity to the SEC63 super family domain. 
• Mutations in the SEC63 gene are associated with errors in protein translocation in the endoplasmic reticulum. When proteins are unable to be 
transported to the membrane, functions throughout the cell will remain undone. Further analysis would need to be conducted to determine which 
cell processes are directly affected. 
• Further analysis can be done to determine if specific mutations are found within polycystic liver disease and absent in autosomal dominant 
polycystic kidney disease. This research could allow a definite diagnosis to be made between polycystic liver disease and autosomal dominant 
polycystic kidney disease which would allow patients with potential kidney failure to seek treatment faster and ultimately return to optimal health. 
DISCUSSION AND CONCLUSION
The methods used to perform the study were Simple Clinvar, PolyPhen2, SIFT, 
Swiss Modeling, and literature analysis. These tools were used to determine the 
variants, pathogenicity, gene mapping, and protein structure. 
Simple Clinvar was used to determine phenotypic effects, gene mapping, and 
mutations  of the SEC63 gene
PolyPhen2 was used to determine the pathogenicity of the mutations in the 
SEC63 gene. 
SIFT was used to determine if the mutations of the SEC63 gene had an impact on 
protein function. 
Swiss Modeling was used to create a protein animation of the SEC63 gene. 
The literature analysis was used to provide knowledge on liver disease and the 
symptoms of polycystic liver disease. 
METHODS
Pathogenicity Predictions: SIFT and PolyPhen2 
Analysis of the SEC63 Gene Variants in 
Polycystic Liver Disease
Megan Woods and Elaine Vanterpool, PhD
Oakwood University
 Department of Biological Sciences
Huntsville AL, 35896
Conserved Domains 
• Kothadia, J. P. (2023, February 6). Polycystic liver disease. StatPearls [Internet]. 
https://www.ncbi.nlm.nih.gov/books/NBK549882/#:~:text=Polycystic%20liver%20disease%20(PLD)%20is%20a%20rare%20genetic%20disorder%20characteri
zed,with%20fluid%2Dfilled%20liver%20cysts.
• Lin, J. H., Walter, P., & Yen, T. S. B. (2008). Endoplasmic Reticulum stress in disease pathogenesis. Annual review of pathology. 
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3653419/#:~:text=Endoplasmic%20Reticulum%20Stress%20and%20Disease,in%20cellular%20dysfunction%
20and%20disease.
• U.S. National Library of Medicine. (n.d.). SEC63 SEC63 homolog, protein translocation regulator [homo sapiens (human)] - gene - NCBI. National Center for 
Biotechnology Information. 
https://www.ncbi.nlm.nih.gov/gene/11231#:~:text=Sec63%20may%20perform%20a%20substrate,precursor%20proteins%20to%20endoplasmic%20reticulum
.
REFERENCES 
I’d like to thank Dr. Elaine Vanterpool and Mayah Seal for their guidance during this project. 
ACKNOWLEDGEMENTS  
Normal SEC63 protein
DNAjBrl Domain
• Conserved domains play a critical role in functional protein formation and allow the gene to function properly. When there is a mutation in the 
conserved domain the protein will not fold correctly rendering a non-functional protein. 
• The Arg125His was found in between the DNAJ and SEC63 superfamily domains. The Ala151Val mutation was found on the border of the SEC63 
superfamily domain. 
• The DnaJ domains (J-domains) are associated with hsp70 heat-shock system and it is thought that this domain mediates the interaction. DnaJ-
domain is therefore part of a chaperone (protein folding) system. 
• The Brl domain is required for assembly of functional endoplasmic reticulum translocations.


Analysis of the SEC63 Gene Variants in Polycystic Liver Disease​

The Symposium is an all-day event featuring oral and poster presentations on various research topics shared by Oakwood University faculty research scholars and guest Keynote Speaker

Oakwood University

Annual Faculty Research Symposium 2024

https://ouscholars.oakwood.edu/student-posters/1022/thumbnail.jp

Marcelle, Leah

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
Analysis of Ank1 Variant Correlated in Anemia 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Leah Marcelle 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and Marcelle, Leah, "Analysis of Ank1 Variant Correlated in Anemia" (2024). Student 
Posters. 13. 
https://ouscholars.oakwood.edu/student-posters/13 
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accepted for inclusion in Student Posters by an authorized administrator of OUScholars. 
Analysis of Ank1 Variant Correlated in Anemia
Leah Marcelle and Elaine Vanterpool, PhD
Oakwood University
Department of Biological Sciences
Huntsville AL, 35896
The ankyrin protein family has lead roles in cell proliferation, motility, activation, and maintenance of 
specialized membrane domains. Most ankyrins are composed of 3 domains: an amino-terminal 
domain, a central region with/ a highly conserved spectrin binding domain, and a carboxy-terminal 
regulatory domain. The analysis tools used to identify the gene and analyze the mutations were Simple 
Clinvar, Polyphen-2, and SIFT (Sorting Intolerant from Tolerant). Ankyrin-1 are protein-coding genes 
associated with anemia that link integral membrane proteins to spectrin-actin cytoskeleton. There were 
seven conserved domains: ZU5, Ank_2 superfamily, PHA02876 superfamily, ANKYR, UPA_2 
superfamily, Ank_2, and Ank_4. The majority of the domains stem from the ANKYR superfamily. There 
were 103 missense mutations found. Two mutations of interest found were S1129I and R322L. ANK-1 
is expressed mainly in the bone marrow and secondly the brain and heart. Polyphen concluded that 
mutation S1129I was “probably pathogenic” and R322L was “possibly pathogenic.” Contrary to 
Polyphen, SIFT concluded that mutation S1129I was predicted to affect protein function with a score of 
0.00. Mutation R322L was predicted to be tolerated with a score of 0.12. Hereditary Spherocytosis is a 
disease associated with the Ank1 gene. Mutations of the Ank1 gene have been found in half of all 
patients who have hereditary spherocytosis. This disease occurs because the red blood cells, named 
spherocytes, are round rather than disk-shaped and are very fragile. Analyzing this information is the 
start to reducing mutations in the Ank1 gene through gene therapy. 
ABSTRACT
•Anemia is a disease in which there are not enough healthy red blood cells or hemoglobin. This results 
in the tissues of the body not receiving enough oxygen. Iron deficiency is another name for anemia due 
to iron being needed to form hemoglobin. An individual with this condition often experiences extreme 
fatigue, dizziness, irregular heartbeat, and pale skin. The risk of anemia is increased due to poor diet, 
alcoholics, and being over the age of 65. Hereditary spherocytosis, a disease in which the red blood 
cells are round rather than disk-like, also increases the risk of anemia. Prevention of anemia can be 
done by evaluating and analyzing the specific effect or role that a gene plays within the disease. There 
are multiple gene mutations of low frequency which lead to anemia like the Ankyrin-1 gene. Analyzing 
the mutations of this gene will help keep in seeking possible prevention. 
INTRODUCTION
RESULTS
• Genes mostly found in the bone marrow and the heart. Some 
mutations delete small pieces of genetic material in the ANK1 
gene which leads to an abnormal functioning ankyrin-1 
protein that does not bind to other proteins within the red 
blood cell membrane. This is revealed in the data which 
confirms a high concentration of ANK-1 gene in bone marrow 
where blood cells are made.
• Through the analysis of the conserved domain and the 
position of the mutations, mutations of this gene affects the 
performance of its role, which is to link transmembrane 
proteins with spectrin-based cytoskeleton, through the defect 
of the ankyrin repeat protein. An incomplete linkage 
decreases red blood cell elasticity. 
• The elasticity of red blood cells are important for blood flow 
and passing through vessels. The flow of red blood cells 
becomes inhibited and causes the issues of the body to lack 
oxygen.
DISCUSSION AND 
CONCLUSION
• Cleveland Clinic medical. (n.d.). Hereditary spherocytosis: What it is, symptoms, causes 
& treatment. Cleveland Clinic. https://my.clevelandclinic.org/health/diseases/23058-
hereditary-spherocytosis. 
• Li J, Mahajan A, Tsai MD. Ankyrin repeat: a unique motif mediating protein-protein 
interactions. Biochemistry. 2006 Dec 26;45(51):15168-78. doi: 10.1021/bi062188q. 
PMID:17176038.
• Mayo Clinic Staff. (2023, May 11). Anemia. Mayo Clinic. 
https://www.mayoclinic.org/diseases-conditions/anemia/symptoms-causes/syc-
20351360.
• Zamora EA, Schaefer CA. Hereditary Spherocytosis. [Updated 2023 Jul 4]. In: 
StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available 
from: https://www.ncbi.nlm.nih.gov/books/NBK539797/.
REFERENCES 
• Simple Clinvar was used to identify the genes associated with 
anemia and the various variants.
• Polyphen-2 was used to predict the impact of the amino acid 
substitutions. 
• SIFT (Sorting Intolerant from Tolerant) is also used to predict 
the impact of protein function on amino acid substitutions.
• Swiss modeling was used to acquire 
METHODS
This research was supported by the Oakwood 
University Department of Biological Sciences and 
Hudson Alpha
Special thanks to Elaine Vanterpool, PhD
ACKNOWLEDGEMENTS  
Gene Identification
Protein Homology 
Prediction of Pathogenicity: SIFT and Poly-Phen2
Conserved Domains
• At position 322 the conserved domain is PHA02876 super family which is apart of the ankyrin repeat protein. The role of these proteins are to mediate 
protein-protein interaction. 
• The uncertain missense mutation at position 322 found in the amino acid substitution R322L is apart of the ankyrin repeat protein. This displays the affect of 
the mutation of the ANK-1 gene. 
• At position 1129 there is no conserved domain. 
 
Out of 103 missense mutations, one likely pathogenic and one uncertain mutations were chosen for analysis. 
• Using SIFT programming, Ser1129Ile is predicted to affect protein function with a score of 0.00. 
• Poly-Phen2 predicts that this missense will cause probable damage with a score of 1.00.
• Using SIFT programming, the uncertain missense mutation Arg322Leu is predicted to be tolerated with a score of 0.12. 
• Poly-Phen2 predicts that possible damage will be caused by this missense mutation with a score of 0.718.
This is a chart of the top 10 genes associated with anemia. All genes on this chart have a frequency of 
250 or above. The gene Ankyrin-1 has a frequency of 1.
• The Ankyrin-1 gene is a protein responsible for the linkage between transmembrane proteins and 
spectrin-based cytoskeleton.
• An incomplete linkage between the transmembrane and cytoskeleton leads to a mutation of the Ankyrin-
1 gene. Further analyzation must be completed to understand how this leads to anemia. 
Ankyrin-1 normal protein


Analysis of Ank1 Variant Correlated in Anemia

https://ouscholars.oakwood.edu/student-posters/1020/thumbnail.jp

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. 15. 
https://ouscholars.oakwood.edu/student-posters/15 
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. 
• 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


https://ouscholars.oakwood.edu/student-posters/1029/thumbnail.jp

Moodie-Lee, Anaya

Oakwood University 
OUScholars 
Student Posters Student Creative Works 
4-2024 
Anxiety and its Relation to the CR1 Gene Variants 
Elaine Vanterpool 
Oakwood University, evanterpool@oakwood.edu 
Anaya Moodie-Lee 
Oakwood University 
Follow this and additional works at: https://ouscholars.oakwood.edu/student-posters 
Recommended Citation 
Vanterpool, Elaine and Moodie-Lee, Anaya, "Anxiety and its Relation to the CR1 Gene Variants" (2024). 
Student Posters. 27. 
https://ouscholars.oakwood.edu/student-posters/27 
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. 
Anxiety and its Relation to the CR1 Gene Variants
Anaya Moodie-Lee and Elaine Vanterpool, PhD
Oakwood University
Department of Biological Sciences
Huntsville AL, 35896
Anxiety disorder is characterized by experiencing frequent and intense panic in response to 
everyday situations. Those with this disorder tend to deal with persistent episodes that can 
escalate rapidly, making routine tasks dreadful and stressful. This study analyzes the 
different variants with possible correlations or relationships to generalized anxiety 
disorder. The research involved computational biology tools: Simple ClinVar, SIFT, 
Polyphen-2, and SWISS modeling. Simple ClinVar identified the CR1 gene and gene 
variants associated with generalized anxiety disorder, providing a summary of the CR1 
gene and its different variants. SIFT and Polyphen-2 were used to predict if an amino acid 
substitution is going to affect the protein function and/or be damaging to the protein. 
PolyPhen-2 predicted that Gly2109Ser was concluded to be possibly damaging. SWISS 
modeling was used to visually see the modeling of the protein. The CR1 gene is on 
chromosome one and is part of the receptor of complement activation family. It encodes a 
monomeric single-pass type 1 membrane glycoprotein on erythrocytes, leukocytes, 
glomerular podocytes, and splenic follicular dendritic cells. The gene plays a role in the 
capture and clearance of complement-opsonized pathogens. It watches the binding through 
erythrocytes, monocytes, and immune complexes. It can also inhibit spontaneous 
complement activation by impairing the C3/C5 pathway’s function and structure. These 
genes are found mainly among appendix, spleen, and lymph node cells. This data can be 
used to develop understanding of the relationship between the inhibition of the CR1 gene 
and generalized anxiety disorder.
ABSTRACT
Anxiety disorder is characterized by experiencing frequent and intense panic in response to everyday 
situations. Those with this disorder tend to deal with persistent episodes that can escalate rapidly, 
making routine tasks dreadful and stressful. Individuals who suffer from this disorder often perceive a 
lack of control and combat it by avoiding such situations. Though symptoms may start developing 
during early childhood, they become more apparent during later adolescent years. There is no direct 
cause of anxiety, though it can progress due to familial inheritance or a triggering event. Having an 
episode consists of more than just worry or fear; it can also be presented through symptoms such as 
insomnia, heart palpitations, irritability, or abdominal distress.
The purpose of this study is to analyze the different variants of the CR1 gene and the relationship it has 
with generalized anxiety disorder. Understanding how the CR1 gene affects anxiety can lead to an 
understanding of the correlation between genetic inheritance and mental health disorders.
INTRODUCTION
RESULTS
•The CR1 gene is on chromosome one and is part of the receptor of 
complement activation family. It encodes a monomeric single-pass 
type 1 membrane glycoprotein on erythrocytes, leukocytes, glomerular 
podocytes, and splenic follicular dendritic cells.
•The decrease in the amount of functional CR1 genes leads to the 
reduction of erythrocyte's ability to buffer and transfer immune 
complexes, which results in the impairment of immune complexes by 
the spleen and liver
•CR1 monitors bonding through erythrocytes, monocytes, and immune 
complexes
•The mutations associated with the CR1 gene have also been 
associated with diseases such as gallbladder carcinomas, 
mesangiocapillary glomerulonephritis, systemic lupus erythematosus, 
sarcoidosis and Alzheimer’s
• Mutations in this gene have additionally been linked to a decrease 
in Plasmodium falciparum rosetting, providing protection against 
severe malaria
•CR1 has also been seen to have a role in the pathogenesis of COVID-
19
• Due to the uncertainty of the effects CR1 has on anxiety continued 
research is needed
DISCUSSION AND 
CONCLUSION
•“Anxiety Disorders.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 4 
May 2018, www.mayoclinic.org/diseases-conditions/anxiety/symptoms-causes/syc-20350961. 
•“Anxiety Disorders.” National Institute of Mental Health, U.S. Department of Health and 
Human Services, www.nimh.nih.gov/health/topics/anxiety-disorders. Accessed 2 Apr. 2024. 
•“Anxiety Disorders.” SAMHSA, www.samhsa.gov/mental-health/anxiety-disorders. Accessed 
2 Apr. 2024. 
•“CR1 Complement C3b/C4b Receptor 1 (Knops Blood Group) [Homo Sapiens (Human)] - 
Gene - NCBI.” National Center for Biotechnology Information, U.S. National Library of 
Medicine, www.ncbi.nlm.nih.gov/gene/1378. Accessed 2 Apr. 2024. 
•“CR1 Gene.” Account - Genecards Suite, www.genecards.org/cgi-bin/carddisp.pl?gene=CR1. 
Accessed 2 Apr. 2024. 
•Danial-Farran, N, et al. “Genetic Variant in Complement Receptor 1 (CR1, CD35) Is 
Associated with a Cluster of Severe Fatal Covid-19 in a Family.” The Journal of Infection, U.S. 
National Library of Medicine, Oct. 2023, www.ncbi.nlm.nih.gov/pmc/articles/PMC10014500/. 
•“What Are Anxiety Disorders?” Psychiatry.Org - What Are Anxiety Disorders?, 
www.psychiatry.org/patients-families/anxiety-disorders/what-are-anxiety-disorders. Accessed 
2 Apr. 2024. 
REFERENCES 
The methodology for this research was divided into four 
different databases: Simple ClinVar, SIFT, PolyPhen, and 
Swiss Model. Simple ClinVar was used to provide a 
summary of the CR1 gene and its different variants. SIFT 
and PolyPhen 2 were databases used to predict if an 
amino acid substitution would affect the protein’s 
function. The Swiss Model database was utilized to 
visually model the protein’s structure.
METHODS
This research  was supported By 
HBCU Undergraduate Program 
Research
Thanks to Elaine Vanterpool,PhD
ACKNOWLEDGEMENTS  
Protein Homology of CR1
Using Polyphen the missense mutation G2109S is 
predicted to be possibly damaging with a score of 
.904
Sift programing established that the mutation 
G2109S does affect protein function with a score 
of 0.00. Though there is little confidence in this 
prediction.
Using Polyphen the missense mutation R2014Q is 
predicted to be benign with a score of .229
Sift programing established that the mutation 
R2014Q does affect protein function with a score 
of 0.00. Though there is little confidence in this 
prediction.
Using Polyphen the missense mutation H2095N is 
predicted to be benign with a score of .025
Sift programing established that the mutation 
H2095N does affect protein function with a score 
of 0.00. Though there is little confidence in this 
prediction.


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Harmon Lindsay

Analysis of APOE Variants in Onset of Alzheimer’s Disease

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

Analysis of the AURKA gene in Colon Cancer

Analysis of ABCA7 in Alzheimer

Analysis of the SEC63 Gene Variants in Polycystic Liver Disease

Annual Faculty Research Symposium 2024

Analysis of Ank1 Variant Correlated in Anemia

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

Anxiety and its Relation to the CR1 Gene Variants

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