caa a22 4500 397575459 CHVBK 20180308164854.0 cr unu---uuuuu 161202e199612 xx s 000 0 eng 10.1093/hmg/5.12.1899 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.12.1899 ATRX Encodes a Novel Member of the SNF2 Family of Proteins: Mutations Point to a Common Mechanism Underlying the ATR-X Syndrome [Elektronische Daten] [David J. Picketts, Douglas R. Higgs, Satvinder Bachoo, Derek J. Blake, Oliver W. J. Quarrell, Richard J. 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 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. © 1993 Oxford University Press Picketts David J. The Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DU, UK aut Higgs Douglas R. The Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DU, UK aut Bachoo Satvinder The Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DU, UK aut Blake Derek J. Genetics Laboratory, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK aut Quarrell Oliver W. J. Centre for Human Genetics, 117, Manchester Road, Sheffield S10 5DN, UK aut Gibbons Richard J. The Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DU, UK aut Human Molecular Genetics Oxford University Press 5/12(1996-12), 1899-1907 0964-6906 5:12<1899 1996 5 hmg https://doi.org/10.1093/hmg/5.12.1899 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.12.1899 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Picketts David J. The Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DU, UK aut NATIONALLICENCE 700 1- Higgs Douglas R. The Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DU, UK aut NATIONALLICENCE 700 1- Bachoo Satvinder The Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DU, UK aut NATIONALLICENCE 700 1- Blake Derek J. Genetics Laboratory, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK aut NATIONALLICENCE 700 1- Quarrell Oliver W. J. Centre for Human Genetics, 117, Manchester Road, Sheffield S10 5DN, UK aut NATIONALLICENCE 700 1- Gibbons Richard J. The Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DU, UK aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/12(1996-12), 1899-1907 0964-6906 5:12<1899 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford