MUTATIONS IN A PUTATIVE GLOBAL TRANSCRIPTIONAL REGULATOR CAUSE X-LINKED MENTAL-RETARDATION WITH ALPHA-THALASSEMIA (ATR-X SYNDROME)
MUTATIONS IN A PUTATIVE GLOBAL TRANSCRIPTIONAL REGULATOR CAUSE X-LINKED MENTAL-RETARDATION WITH ALPHA-THALASSEMIA (ATR-X SYNDROME)
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DOI：
10.1016/0092-8674(95)90287-2
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发表时间：
1995-03-24
期刊：
影响因子：
64.5
通讯作者：
HIGGS, DR
中科院分区：
文献类型：
--
作者：
GIBBONS, RJ;PICKETTS, DJ;HIGGS, DR
ATR-X综合征是一种x连锁疾病，包括严重的精神运动迟缓、特征性面部特征、生殖器异常和α -地中海贫血。我们已经证明，ATR-X是由解旋酶超家族的一个亚群成员XH2的不同突变引起的，该亚群包括参与广泛细胞功能的蛋白质，包括DNA重组和修复（RAD16、RAD54和ERCC6）和转录调节（SWI2/SNF2、MOT1和brahma）。复杂的ATR-X表型表明，当XH2发生突变时，会下调包括α -珠蛋白基因在内的几个基因的表达，这表明它可能是一个全局转录调节剂。除了在ATR-X综合征中发挥作用外，XH2可能是其他形式的x连锁智力低下的良好候候者。
The ATR-X syndrome is an X-linked disorder comprising severe psychomotor retardation, characteristic facial features, genital abnormalities, and alpha-thalassemia. We have shown that ATR-X results from diverse mutations of XH2, a member of a subgroup of the helicase superfamily that includes proteins involved in a wide range of cellular functions, including DNA recombination and repair (RAD16, RAD54, and ERCC6) and regulation of transcription (SWI2/SNF2, MOT1, and brahma). The complex ATR-X phenotype suggests that XH2, when mutated, down-regulates expression of several genes, including the alpha-globin genes, indicating that it could be a global transcriptional regulator, In addition to its role in the ATR-X syndrome, XH2 may be a good candidate for other forms of X-linked mental retardation mapping to Xq13.