ATRX subfamily

The ATRX subfamily derives its name from the Alpha Thalassemia/Mental Retardation syndrome, X linked genetic disorder caused by defects in the activity of the human member, ATRX 1. This protein is localised to centromeric heterochromatin 2, and purified complexes have been shown to increase the accessibility of nucleosomal DNA although with only moderate efficiency 3. ATRX has been implicated both in the regulation of transcription and heterochromatin structure 4, although the mechanism by which it acts is unclear.

names associated with subfamily members
XH2, XNP, Hp1bp2
1: Gibbons, R. J., D. J. Picketts, et al. (1995). Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell 80(6): 837-45. PubMed
2: McDowell, T. L., R. J. Gibbons, et al. (1999). Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes. Proc Natl Acad Sci U S A 96(24): 13983-8. PubMed
3: Xue, Y., R. Gibbons, et al. (2003). The ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies. Proc Natl Acad Sci U S A 100(19): 10635-40. PubMed
4: Gibbons, R. J., T. L. McDowell, et al. (2000). Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation. Nat Genet 24(4): 368-71. PubMed