To deeply investigate the potential role of UTX in neurogenesis, scientists have developed a KDM6A-deficient murine model in neural stem/progenitor cells (NSPCs).
Small nuclear RNAs (snRNAs) play a crucial role in RNA splicing and cell functioning. The transcription of these RNAs is initiated by small nuclear RNA activation protein complex (SNAPc), and SNAPC4 is the subunit in charge of SNAPc-DNA binding. Previous studies have found that SNAPC4 deficiency led to decreased expression of these RNAs in animal models.
Selenophosphate synthetase 1 (SEPHS1) plays an essential role in the metabolism of selenium and has ATPase activity that synthesizes selenophosphate from ATP and selenide. Researchers have hypothesized the potential involvement of SEPHS1 in genetic disorders. They presented a series of case reports involving 9 individuals with heterozygous missense variants in the SEPHS1 gene; all these variants resided in the C-terminal domain or near the AIR synthase-related domain of the gene.
