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. Hence, the YY in the name stands for "yin-yang." 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.[8] YY1 promotes enhancer-promoter chromatin loops by forming dimers and promoting DNA interactions. Its dysregulation disrupts enhancer-promoter loops and gene expression.[9][10]
YY1 heterozygous deletions, missense, and nonsense mutations cause Gabriele-DeVries syndrome (GADEVS),[11][12] an autosomal dominant neurodevelopmental disorder characterized by intellectual disability, dysmorphic facial features, feeding problems, intrauterine growth restriction, variable cognitive impairment, behavioral problems and other congenital malformations.[10] A website is available in order to collect and share clinical information between clinicians and the families of affected individuals.[13]
^Shi Y, Seto E, Chang LS, Shenk T (October 1991). "Transcriptional repression by YY1, a human GLI-Krüppel-related protein, and relief of repression by adenovirus E1A protein". Cell. 67 (2): 377–88. doi:10.1016/0092-8674(91)90189-6. PMID1655281. S2CID19399858.
^Nabais Sá MJ, Gabriele M, Testa G, de Vries BB (1993). "Gabriele-de Vries Syndrome". In Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, Gripp KW, Amemiya A (eds.). GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle. PMID31145572.
^Shrivastava A, Saleque S, Kalpana GV, Artandi S, Goff SP, Calame K (December 1993). "Inhibition of transcriptional regulator Yin-Yang-1 by association with c-Myc". Science. 262 (5141): 1889–92. Bibcode:1993Sci...262.1889S. doi:10.1126/science.8266081. PMID8266081.
^Huang NE, Lin CH, Lin YS, Yu WC (June 2003). "Modulation of YY1 activity by SAP30". Biochemical and Biophysical Research Communications. 306 (1): 267–75. doi:10.1016/s0006-291x(03)00966-5. PMID12788099.
Thomas MJ, Seto E (August 1999). "Unlocking the mechanisms of transcription factor YY1: are chromatin modifying enzymes the key?". Gene. 236 (2): 197–208. doi:10.1016/S0378-1119(99)00261-9. PMID10452940.
Shrivastava A, Saleque S, Kalpana GV, Artandi S, Goff SP, Calame K (December 1993). "Inhibition of transcriptional regulator Yin-Yang-1 by association with c-Myc". Science. 262 (5141): 1889–92. Bibcode:1993Sci...262.1889S. doi:10.1126/science.8266081. PMID8266081.
McNeil S, Guo B, Stein JL, Lian JB, Bushmeyer S, Seto E, et al. (March 1998). "Targeting of the YY1 transcription factor to the nucleolus and the nuclear matrix in situ: the C-terminus is a principal determinant for nuclear trafficking". Journal of Cellular Biochemistry. 68 (4): 500–10. doi:10.1002/(SICI)1097-4644(19980315)68:4<500::AID-JCB9>3.0.CO;2-U. PMID9493912. S2CID34077497.
Viles JH, Patel SU, Mitchell JB, Moody CM, Justice DE, Uppenbrink J, et al. (June 1998). "Design, synthesis and structure of a zinc finger with an artificial beta-turn". Journal of Molecular Biology. 279 (4): 973–86. doi:10.1006/jmbi.1998.1764. PMID9642075.