ATRX encodes a novel member of the SNF2 family of proteins: Mutations point to a common mechanism underlying the ATR-X syndrome
ATRX encodes a novel member of the SNF2 family of proteins: Mutations point to a common mechanism underlying the ATR-X syndrome
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DOI：
10.1093/hmg/5.12.1899
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发表时间：
1996-12-01
影响因子：
3.5
通讯作者：
Gibbons, RJ
中科院分区：
文献类型：
--
作者：
Picketts, DJ;Higgs, DR;Gibbons, RJ
最近的研究表明，ATRX基因的突变会引起与地中海贫血相关的严重的X连锁综合征性精神发育迟滞在这项研究中，我们已经表征了ATRX蛋白的全长cDNA和预测的结构，比较分析表明，它是具有类似ATP酶和解旋酶结构域的蛋白质超家族SNF 2亚组的全新成员，ATRX可能充当基因表达的调节因子，其基因组结构的定义使我们能够通过筛选52名受影响的个体来识别四种新型剪接缺陷，这些与先前识别的突变与ATR-X表型变异之间的相关性提供了对这种疾病的病理生理学的见解和ATRX蛋白在体内的正常作用。
It was shown recently that mutations of the ATRX gene give rise to a severe, X-linked form of syndromal mental retardation associated with a 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.