Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Schizophrenia is a severe mental illness, the etiology and pathogenesis of which are significantly contributed by hereditary factors. Genome-wide association analysis shows that the majority of genetic variants associated with a high risk of schizophrenia are located in regulatory regions of genes. In this brief review, data on the overall structure of the major regulatory regions of genes are summarized.
View Article and Find Full Text PDFSchizophrenia (SZ) is a common psychiatric neurodevelopmental disorder with a complex genetic architecture. Genome-wide association studies indicate the involvement of several transcription factors, including ASCL1, in the pathogenesis of SZ. We aimed to identify ASCL1-dependent cellular and molecular mechanisms associated with SZ.
View Article and Find Full Text PDFCell metabolism depends, to a large extent, on correct regulation of gene expression. One of the mechanisms of regulation is the formation of nucleic acid secondary structures, among which guanine quadruplexes (G-quadruplexes, or G4) are of particular importance. G-quadruplexes are dynamic structures whose stability is determined by their size, ionic composition, and the nature of the nucleic acids forming them.
View Article and Find Full Text PDFAcrosome is a special organelle in spermatozoids necessary for fertilizing oocyte and originates, according to various theories, either from Golgi apparatus, or from endosomes and lysosomes. One of the proteins, found at mammalian acrosome, is Hgs, a homologue of Drosophila melanogaster Hrs (Hepatocyte growth factor regulated tyrosine kinase substrate), a known marker of multivesicular bodies (MVBs). However, although Drosophila acrosome was extensively studied, it is yet unknown whether Hrs localizes at acrosome similar to Hgs and, more generally, whether the spectrum of acrosomal proteins in Drosophila is the same as in mammals.
View Article and Find Full Text PDFThe Hrs (hepatocyte growth factor receptor tyrosine kinase substrate) protein is an endosomal protein whose function is to transport receptor tyrosine kinases from early endosomes to lysosomes. Since receptor tyrosine kinases are involved in various signaling pathways, HSR defects lead to various malformations. A study of the role of the hrs gene in wing development in Drosophila confirmed that the gene is involved in the formation of the D/V boundary of the wing imaginal disk and suggested a new role in wing vein refinement for the gene.
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