ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome

Picketts, David J., Higgs, Douglas R., Bachoo, Satvinder, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, Quarrel, Oliver W. J. and Gibbons, Richard J. 1996. ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome. Human Molecular Genetics 5 (12) , pp. 1899-1907. 10.1093/hmg/5.12.1899

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Abstract

It was shown recently that mutations of the ATRX gene give rise to a severe, X-linked form of syndromal mental retardation associated with 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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects:	R Medicine > R Medicine (General)
Publisher:	Oxford University Press
ISSN:	1460-2083
Last Modified:	24 Oct 2022 11:50
URI:	https://orca.cardiff.ac.uk/id/eprint/49480

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