Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0030567 (Parkinson's disease)
 63,064 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
 ...
PMID:[CENTB5 gene expression in human and mouse]. 1954 26

Earlier, it was established that polymorphism of minisatellite UPS29 located in one of introns of human gene CENTB5 (ACAP3) was associated with Parkinson's disease and epilepsy. The main aim of this work was to elucidate if that minisatellite could regulate reporter gene activity, and if such activity was tissue (cell)-specific. To this end there was used transient transfection of HeLa cells, mouse embryonal carcinoma line F9, and rat astrocytes cultures with plasmides which contained reporter gene EGFP under eukaryotic promoter ROSA26 and different allelles of minisatellite UPS29. It was found that UPS29 possessed enhancer-like activity in neuronal type cells.
 ...
PMID:[Human intra-intronic minisatellite UPS29 associated with neurological diseases regulates reporter gene EGFP expression depending on cell type]. 2110 60