A novel human gene, WSTF, is deleted in Williams syndrome.
A novel human gene, WSTF, is deleted in Williams syndrome.
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DOI：
10.1006/geno.1998.5578
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发表时间：
1998-12
期刊：
影响因子：
4.4
通讯作者：
Xiaojun Lu;Xun Meng;C. Morris;M. Keating
中科院分区：
文献类型：
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作者：
Xiaojun Lu;Xun Meng;C. Morris;M. Keating
威廉姆斯综合征（WS）是由染色体7q11.23多个基因缺失引起的发育障碍。在这里，我们报告了一个新的基因，WSTF，映射到共同的WS缺失区的识别和表征。WSTF基因编码一个由1425个氨基酸组成的新蛋白，其功能尚不清楚。它含有一个PHD型锌指基序，随后是一个溴结构域。这两个基序在许多转录调节子中发现，表明WSTF可能作为转录因子发挥作用。WSTF在成人和胎儿组织中都广泛表达。WSTF基因由20个外显子组成，跨度约80 kb。荧光原位杂交分析表明，WSTF在50/50的WS个体中缺失。WSTF的半合子缺失可能导致WS。
Williams syndrome (WS) is a developmental disorder caused by deletion of multiple genes at chromosome 7q11.23. Here, we report the identification and characterization of a novel gene, WSTF, that maps to the common WS deletion region. WSTF encodes a novel protein of 1425 amino acids with unknown function. It contains one PHD-type zinc finger motif followed by a bromodomain. Both motifs are found in many transcription regulators, suggesting that WSTF may function as a transcription factor. WSTF is ubiquitously expressed in both adult and fetal tissues. The WSTF gene consists of 20 exons spanning about 80 kb. Fluorescence in situ hybridization analysis shows that WSTF is deleted in 50/50 WS individuals. Hemizygous deletion of WSTF may contribute to WS.