1,721,010 research outputs found
Lack of atorvastatin protective effect against atrial fibrillation in CETP TaqIB2B2 genotype.
Full text linkGenomic organization of sheep TRDJ segments and their expression in the delta-chain repertoire in thymus
No full textAssignment of the TRB@ locus encoding the T-cell receptor beta chain to sheep, cattle, goat and river buffalo chromosomes by in situ hybridization
No full textFree H-Y antigen induces in vitro testicular differentiation of human XX embryonic indifferent gonads
No full textMissense mutations in exon 2 of the MED12 gene are involved in IGF-2 overexpression in uterine leiomyoma
No full textMolecular Human Reproduction
Volume 20, Issue 10, 2014, Pages 1009-1015
Missense mutations in exon 2 of the MED12 gene are involved in IGF-2 overexpression in uterine leiomyoma (Article)
Di Tommaso, S.a,
Tinelli, A.b,
Malvasi, A.c,
Massari, S.a
a Department of Biological and Environmental Sciences and Technologies, University of Salento, Lecce, Italy
b Division of Experimental Endoscopic Surgery, Imaging, Minimally Invasive Therapy and Technology, Department of Gynecology and Obstetrics, Vito Fazzi Hospital, Lecce, Italy
c Department of Obstetrics and Gynecology, Santa Maria Hospital, Bari, Italy
View references (36)
Abstract
Uterine leiomyoma (UL), the most common benign tumour found in females, is associated with many recurrent genetic aberrations, such as translocations, interstitial deletions and specific germline mutations. Among these, mutations affecting exon 2 of the mediator complex subunit 12 (MED12) gene are commonly detected in the majority of ULs. Mutational analysis of the MED12 gene, performed on 36 UL samples, revealed that 12 leiomyomas (33.4%) exhibited heterozygous missense mutations in codon 44 of exon 2 of the MED12 gene, four leiomyomas (11.1%) showedinternal in-frame deletions, and two leiomyomas (5.5%) exhibited deletions involving intron 1-exon 2 junction, which caused a predicted loss of the splice acceptor.Nomutations were detected in uterinemyometrium (UM) and pseudocapsule (PC) samples, including those from women with a MED12 mutation in UL. These data showed that the PC is a healthy tissue that surrounds the UL to maintain UM integrity. Analysis of insulin-like growth factor 2 (IGF-2) and collagen type IV alpha 2(COL4A2)mRNAexpression levels in the same set of ULs revealed that only those with MED12 missense mutations expressed significantly higher levels of IGF-2 mRNA. In contrast, MED12 gene status does not appear to affect mRNA expression levels of the COL4A2 gene. On the basis of this finding, we suggest that the MED12 status stratifies the ULs into two mutually exclusive pathways of leiomyoma genesis, one with IGF-2 overexpression and the other with no IGF-2 activation. The occurrence of IGF-2 overexpression could be therapeutically targeted for the non-surgical treatment of leiomyoma
Evaluation of genetic diversity in a Southern Italy sheep population assessed by RAPD analysis
No full textRyR2 QQ2958 Genotype and Risk of Malignant Ventricular Arrhythmias
No full textVentricular arrhythmias are one of the most common causes of death in developed countries. The use of implantable cardiac defibrillators is the most effective treatment to prevent sudden cardiac death. To date, the ejection fraction is the only approved clinical variable used to determine suitability for defibrillator placement in subjects with heart failure. The purpose of this study was to assess whether genetic polymorphisms found in the ryanodine receptor type 2 (Q2958R) and histidine-rich calcium-binding protein (S96A) might serve as markers for arrhythmias. Genotyping was performed in 235 patients treated with defibrillator for primary and secondary prevention of arrhythmias. No significant association was found between the S96A polymorphism and arrhythmia onset, whereas the QQ2958 genotype in the ryanodine receptor gene was correlated with an increased risk of life-threatening arrhythmias. Concurrent stressor conditions, such as hypertension, seem to increase this effect. Our findings might help to better identify patients who could benefit from defibrillator implantation
Assignment of the TCRA/TCRD locus to sheep chromosome bands 7q1.4-->q2.2 by fluorescence in situ hybridization
No full textCETP TaqIB polymorphism, serum lipid levels and risk of atrial fibrillation: A case-control study.
Full text linkThe cholesteryl ester transfer protein (CETP) mediates the transfer of cholesteryl esters from high-density lipoproteins (HDL) to triglyceride (TG)-rich lipoproteins. A consistent number of investigations has suggested an association between the TaqIB polymorphism of the CETP gene, plasma HDL-C levels and the risk of cardiovascular disease, but the results are controversial.
The aim of this study was to determine if the TaqIB polymorphism might be related to the presence of atrial fibrillation (AF).
We conducted a case-control study, enrolling 109 Caucasian unrelated patients coming from Salento (Southern Italy) with documented AF and 109 controls selected from the same ward. The CETP TaqIB genotypes were determined by RFLP-PCR.
The subjects with the B2B2 genotype seem to be more susceptible to AF development (OR=2.28, 95% CI 1.06-4.89, p=0.032). The AF incidence is higher if we consider only the female subgroup (OR=5.14, 95% CI 1.57-16.82, p=0.0061). In the AF female subgroup the B2B2 patients had a statistically significant decrease of HDL-C levels (1.50 ± 0.35 vs 2.07 ± 0.42; p=0.012) and statistically higher TG levels (1.34 ± 0.46 vs 0.77 ± 0.14; p=0.027) and TG/HDL-C ratio (2.14 ± 0.80 vs 0.88 ± 0.23; p=0.007) when compared to B2B2 female control subjects. When we analyzed the linkage between the TaqIB polymorphism and the promoter variant (-629C/A), we found that 100% of the B2 alleles of the TaqIB polymorphism were associated with the A alleles of the -629 promoter polymorphism in our subjects.This study suggests that in post-menopausal women atrial fibrillation could be promoted by the association of CETP B2B2/AA genotype with higher triglycerides values
Toward a detailed molecular characterization of the crystal region on the Y chromosome
No full textThe crystal-Stellate system is one of the most studied examples of heterochromatin-euchromatin interaction in Drosophila melanogaster. The loss of the heterochromatic h11 region on the Y chromosome, called “crystal” region (or Suppressor of Stellate, results in the production of crystalline aggregates in spermatocytes due to the expression of the Stellate euchromatic mRNA, from 12 E-F region on the X chromosome, coding for the Stellate protein that is the main components of crystals. The crystal-Stellate interaction represents the first natural case of a piRNA-mediated regulation in Drosophila melanogaster. Many piRNAs corresponding to crystal sequences have been identified in testes and they are supposed to silence Stellate euchromatic sequences in normal conditions. The piRNA pathway also silences the transposable elements (TEs), protecting genomes from potentially deleterious effects of their activation maintaining the genome stability in gonads and in other somatic tissues. In order to acquire more information about the molecular basis of the crystal-Stellate regulation, we started a detailed genomic analysis of the crystal sequences contained in the Release 6 of the Drosophila genome and we identified two main regions containing crystal sequences and they exhibit different molecular structures. Recently new sequences from the heterochromatin of the Y chromosome have been published and we put together all the available information to describe in details the organization of the regions containing the crystal repeats in order to get more clear information on their role in regulating the Stellate sequences
- …
