ATRX (E5X7O) Rabbit mAb

α-thalassemia/mental retardation X-linked (ATRX) is a transcriptional regulator and helicase that belongs to the SNF2 family of chromatin remodeling proteins (1,2). Together with its binding partner death-associated protein 6 (Daxx), ATRX acts as histone chaperone to deposit histone variant H3.3 at repetitive DNA sequences such as telomeric, pericentric, and ribosomal gene repeats (3-6). ATRX is involved in many nuclear functions that ensure proper sister chromatid cohesion during mitosis and chromosome alignment during meiosis (7,8). The ATRX transcriptional regulator also plays a role in the maintenance of telomere integrity and the regulation of gene expression during mammalian development by influencing DNA methylation patterns at high DNA repeat sequences (9,10). Mutations in the corresponding ATRX gene results in ATR-X syndrome, an X-linked disorder characterized by intellectual disabilities, craniofacial abnormalities, and mild α-thalassemia (11,12). Research studies indicate that the loss of ATRX protein occurs in numerous cancers, including pancreatic neuroendocrine tumors (PanNETs) and pediatric glioblastoma, where telomere maintenance occurs independently of telomerase (13-16). 1.Clynes, D. et al. (2013) Trends Biochem Sci 38, 461-6. 2.Picketts, D.J. et al. (1996) Hum Mol Genet 5, 1899-907. 3.Drané, P. et al. (2010) Genes Dev 24, 1253-65. 4.Elsässer, S.J. et al. (2012) Nature 491, 560-5. 5.Lewis, P.W. et al. (2010) Proc Natl Acad Sci U S A 107, 14075-80. 6.Goldberg, A.D. et al. (2010) Cell 140, 678-91. 7.Ritchie, K. et al. (2008) J Cell Biol 180, 315-24. 8.De La Fuente, R. et al. (2004) Dev Biol 272, 1-14. 9.Wong, L.H. et al. (2010) Genome Res 20, 351-60. 10.Gibbons, R.J. et al. (2000) Nat Genet 24, 368-71. 11.Gibbons, R.J. et al. (1995) Cell 80, 837-45. 12.Gibbons, R.J. et al. (1995) Hum Mol Genet 4 Spec No, 1705-9. 13.Heaphy, C.M. et al. (2011) Science 333, 425. 14.Lovejoy, C.A. et al. (2012) PLoS Genet 8, e1002772. 15.Schwartzentruber, J. et al. (2012) Nature 482, 226-31. 16.Jiao, Y. et al. (2011) Science 331, 1199-203.