title: [CENTB5 gene expression in human and mouse].
abstract: 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.
authors: D M
authors: DM
authors: Shubina
authors: I O
authors: IO
authors: Suchkova
authors: N A
authors: NA
authors: Slominskaia
authors: N
authors: N
authors: Alenina
authors: M
authors: M
authors: Bader
authors: E L
authors: EL
authors: Patkin
mesh_terms: D000818:Animals; D053503:Epithelial Sodium Channels / Q000378:metabolism; D020690:GTPase-Activating Proteins / Q000096:biosynthesis / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007438:Introns / Q000502:physiology; D026901:Membrane Transport Proteins / Q000096:biosynthesis*; D051379:Mice; D018598:Minisatellite Repeats; D009928:Organ Specificity; D010170:Palmitoyl-CoA Hydrolase / Q000378:metabolism; D013045:Species Specificity; D020080:Tandem Repeat Sequences
chemical_list: C542459:ACAP3 protein, human; C542460:Acap3 protein, mouse; D053503:Epithelial Sodium Channels; D020690:GTPase-Activating Proteins; D026901:Membrane Transport Proteins; C507051:SCNN1D protein, human; C521939:Acot7 protein, mouse; D010170:Palmitoyl-CoA Hydrolase