Human Molecular Genetics, Vol 5, 1899-1907, Copyright © 1996 by Oxford University Press
DJ Picketts, DR Higgs, S Bachoo, DJ Blake, OW Quarrell and RJ Gibbons
It was shown recently that mutations of the ATRX gene give rise to a
severe, X-linked form of syndromal mental retardation associated with alpha
thalassaemia (ATR-X syndrome). In this study, we have characterised the
full-length cDNA and predicted structure of the ATRX protein. Comparative
analysis shows that it is an entirely new member of the SNF2 subgroup of a
superfamily of proteins with similar ATPase and helicase domains. ATRX
probably acts as a regulator of gene expression. Definition of its genomic
structure enabled us to identify four novel splicing defects by screening
52 affected individuals. Correlation between these and previously
identified mutations with variations in the ATR-X phenotype provides
insights into the pathophysiology of this disease and the normal role of
the ATRX protein in vivo.
ARTICLES
ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  K. Ritchie, C. Seah, J. Moulin, C. Isaac, F. Dick, and N. G. Berube Loss of ATRX leads to chromosome cohesion and congression defects J. Cell Biol., January 28, 2008; 180(2): 315 - 324. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Szyf The Dynamic Epigenome and its Implications in Toxicology Toxicol. Sci., November 1, 2007; 100(1): 7 - 23. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 X. Nan, J. Hou, A. Maclean, J. Nasir, M. J. Lafuente, X. Shu, S. Kriaucionis, and A. Bird Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation PNAS, February 20, 2007; 104(8): 2709 - 2714. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 X. Sun, T. Morozova, and M. Sonnenfeld Glial and Neuronal Functions of the Drosophila Homolog of the Human SWI/SNF Gene ATR-X (DATR-X) and the jing Zinc-Finger Gene Specify the Lateral Positioning of Longitudinal Glia and Axons Genetics, July 1, 2006; 173(3): 1397 - 1415. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. S. Banting, O. Barak, T. M. Ames, A. C. Burnham, M. D. Kardel, N. S. Cooch, C. E. Davidson, R. Godbout, H. E. McDermid, and R. Shiekhattar CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L Hum. Mol. Genet., February 15, 2005; 14(4): 513 - 524. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. M. Ishov, O. V. Vladimirova, and G. G. Maul Heterochromatin and ND10 are cell-cycle regulated and phosphorylation-dependent alternate nuclear sites of the transcription repressor Daxx and SWI/SNF protein ATRX J. Cell Sci., August 1, 2004; 117(17): 3807 - 3820. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Tang, S. Wu, H. Liu, R. Stratt, O. G. Barak, R. Shiekhattar, D. J. Picketts, and X. Yang A Novel Transcription Regulatory Complex Containing Death Domain-associated Protein and the ATR-X Syndrome Protein J. Biol. Chem., May 7, 2004; 279(19): 20369 - 20377. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. P. Steensma, D. R. Higgs, C. A. Fisher, and R. J. Gibbons Acquired somatic ATRX mutations in myelodysplastic syndrome associated with {alpha} thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations Blood, March 15, 2004; 103(6): 2019 - 2026. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. M. J. van der Meijden, D. S. Lapointe, M. X. Luong, D. Peric-Hupkes, B. Cho, J. L. Stein, A. J. van Wijnen, and G. S. Stein Gene Profiling of Cell Cycle Progression through S-Phase Reveals Sequential Expression of Genes Required for DNA Replication and Nucleosome Assembly Cancer Res., June 1, 2002; 62(11): 3233 - 3243. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 N. Rouleau, A. Domans'kyi, M. Reeben, A.-M. Moilanen, K. Havas, Z. Kang, T. Owen-Hughes, J. J. Palvimo, and O. A. Janne Novel ATPase of SNF2-like Protein Family Interacts with Androgen Receptor and Modulates Androgen-dependent Transcription Mol. Biol. Cell, June 1, 2002; 13(6): 2106 - 2119. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M Fichera, E Borgione, E Avola, S Amata, M Sturnio, C Romano, and A Ragusa A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus? J. Med. Genet., April 1, 2002; 39(4): 276 - 280. [Full Text] [PDF]
|
|
|
|
 |
|
 P Nokelainen and J Flint Genetic effects on human cognition: lessons from the study of mental retardation syndromes J. Neurol. Neurosurg. Psychiatry, March 1, 2002; 72(3): 287 - 296. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
N. G. Berube, M. Jagla, C. Smeenk, Y. De Repentigny, R. Kothary, and D. J. Picketts Neurodevelopmental defects resulting from ATRX overexpression in transgenic mice Hum. Mol. Genet., February 1, 2002; 11(3): 253 - 261. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. Hendrich and W. Bickmore Human diseases with underlying defects in chromatin structure and modification Hum. Mol. Genet., October 1, 2001; 10(20): 2233 - 2242. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Pask, M. B. Renfree, and J. A. Marshall Graves The human sex-reversing ATRX gene has a homologue on the marsupial Y chromosome, ATRY: Implications for the evolution of mammalian sex determination PNAS, November 2, 2000; (2000) 230424497. [Abstract] [Full Text]
|
|
|
|
|
|
C. Cardoso, Y. Lutz, C. Mignon, E. Compe, D. Depetris, M.-G. Mattei, M. Fontes, and L. Colleaux ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein J. Med. Genet., October 1, 2000; 37(10): 746 - 751. [Abstract] [Full Text]
|
|
|
|
|
|
W. H. Raskind, K. K. Niakan, J. Wolff, M. Matsushita, T. Vaughan, G. Stamatoyannopoulos, C. Watanabe, J. Rios, and H. D. Ochs Mapping of a syndrome of X-linked thrombocytopenia with thalassemia to band Xp11-12: further evidence of genetic heterogeneity of X-linked thrombocytopenia Blood, April 1, 2000; 95(7): 2262 - 2268. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. L. McDowell, R. J. Gibbons, H. Sutherland, D. M. O'Rourke, W. A. Bickmore, A. Pombo, H. Turley, K. Gatter, D. J. Picketts, V. J. Buckle, et al. Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes PNAS, November 23, 1999; 96(24): 13983 - 13988. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Pask, M. B. Renfree, and J. A. Marshall Graves The human sex-reversing ATRX gene has a homologue on the marsupial Y chromosome, ATRY: Implications for the evolution of mammalian sex determination PNAS, November 21, 2000; 97(24): 13198 - 13202. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. E. MacCallum, A. Losada, R. Kobayashi, and T. Hirano ISWI Remodeling Complexes in Xenopus Egg Extracts: Identification as Major Chromosomal Components that Are Regulated by INCENP-aurora B Mol. Biol. Cell, January 1, 2002; 13(1): 25 - 39. [Abstract] [Full Text] [PDF]
|
|