Phenotypic information from 23 individuals with de novo mutations or deletions of the YY1 gene was used to identify an intellectual disability syndrome characterized by behavioral abnormalities, intrauterine growth retardation, feeding problems, recurrent dysmorphic features, and various congenital malformations; two of the ten individuals with de novo YY1 mutations presented with autism or ASD (Gabriele et al., 2017). YY1 had previously been shown to interact with MECP2 (Forlani et al., 2010) and HCFC1 (Huang et al., 2012).
Molecular Function
YY1 is a ubiquitously distributed transcription factor belonging to the GLI-Kruppel class of zinc finger proteins. The protein is involved in repressing and activating a diverse number of promoters. YY1 may direct histone deacetylases and histone acetyltransferases to a promoter in order to activate or repress the promoter, thus implicating histone modification in the function of YY1.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
