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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.

Type

Journal article

Journal

Hum Mol Genet

Publication Date

12/1996

Volume

5

Pages

1899 - 1907

Keywords

Amino Acid Sequence, DNA Helicases, DNA-Binding Proteins, Female, Gene Expression Regulation, Humans, Intellectual Disability, Male, Molecular Sequence Data, Mutation, Nuclear Proteins, Syndrome, Transcription Factors, alpha-Thalassemia