CENTB5 gene expression in human and mouse

Centaurin beta5 with unclear function belongs to protein family of centaurins. Human centaurin beta5 is encoded by gene CENTB5 whose intron 14-15 contains low variable minisatellite UPS29, and mouse homolog CENTB5 in analogous intron contains imperfect microsatellite repeat (CATG)19. Earlier we found the association between an occurrence of short UPS29 alleles with some forms of Parkinson disease and epilepsy. Besides this, both human and mice CENTB5 are localized in the same synteny group with SCNN1D and ACOT7 genes which are known to be expressed predominantly in nervous system. Mutations in these genes are connected with neurodegenerative processes and epilepsy. It is known that intra-intronic sequences can modulate genes of their location and neighbor and even remote genes. Using RT-PCR we carried out simultaneous analysis of CENTB5, SCNN1D and ACOT7 genes expression. Potential possibility of human intra-intronic tandem repeat UPS29 and of mouse intra-intronic tandem repeat (CATG)19 to regulate/modulate CENTB5, SCNN1D and ACOT7 activity was evaluated in silico. It was found that all these genes were expressed in all studied organs and tissues. It is suggested that minisatellite locus UPS29 can regulate an activity of CENTB5, SCNN1D and ACOT7 in nervous system cells

Length polymorphism of the B2-VNTR minisatellite repeat of the bradykinin B2 receptor gene in healthy Russians and patients with coronary heart disease

Bradykinin B2 receptor is involved in many processes, including the regulation of blood pressure and smooth muscle contraction, vasodilation, inflammation, edema, cell proliferation, and pain. This receptor attracts special attention as one of the factors that have cardioprotective and infarct-limiting effects. Certain genetic variants of the coding and noncoding regions of the bradykinin B2 receptor gene (BDKRB2) may play a role in modulating its expression. The 3'-untranslated region of BDKRB2 exon 3 harbors a minisatellite repeat (B2-VNTR), which affects the mRNA stability. Hence, it is of interest to study a possible association of B2-VNRT alleles with various forms of coronary heart disease (CHD). In our work the allele and genotype frequency distributions of B2-VNTR were compared between healthy individuals and patients with CHD (angina pectoris or myocardial infarction (MI)) of the Russian ethnic group. Based on its length polymorphism, B2-VNTR was classed with low-polymorphic non-hypervariable minisatellites. Three B2-VNTR alleles, which consisted of 43, 38, and 33 repeats, were observed in all investigated cohorts. The alleles with 43 and 33 repeats were the most prevalent. The allele and genotype frequencies of B2-VNTR did not significantly differ between males and females in control group, and also between healthy males and males with angina pectoris or MI. Thus, B2-VNTR length polymorphism was not associated with these clinical forms of CHD in males. However, we do not exclude the possibility of an association of the short B2-VNTR alleles (38 and 33 repeats) with a cardioprotective effect in females with CHD. This hypothesis requires further investigation