Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23.
Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23.
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GTF2IRD1 的鉴定，这是 Williams-Beuren 综合征 7q11.23 缺失中的假定转录因子。
DOI：
10.1159/000015322
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发表时间：
1999
期刊：
影响因子：
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通讯作者：
Francke,U
中科院分区：
文献类型：
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作者：
Franke,Y;Peoples,RJ;Francke,U
Williams-Beuren综合征(WBS)是由7q11基因单倍体缺失引起的一种微缺失综合征。23.在这里，我们描述了WBS缺失区中GTF2I-重复结构域1的一个新基因GTF2IRD1的鉴定和特征。Northern印迹分析表明，在发育过程中普遍存在表达，通过选择性剪接产生了两个3.6kb和5.0kb的转录本。GTF2IRD1编码一个由944个氨基酸组成的蛋白质，该蛋白质包含一个与转录因子GTF2I中具有螺旋-环-螺旋形成潜力的独特基序高度相似的区域。与TFII-I类似，GTF2IRD1的产物可能具有与其他HLH-蛋白相互作用的能力，并作为转录因子或负转录调节因子发挥作用。最近发现的一种肌肉特异性转录因子MusTRD1支持这一假说(O‘MaHony等人，1998)。MusTRD1的开放阅读框架与GTF2IRD1相同；然而，推测的MusTRD1-蛋白比GTF2IRD1编码的预测蛋白短486个氨基酸。GTF2IRD1杂合性缺失可能与复杂的WBS表型有关。
Williams-Beuren syndrome (WBS) is a microdeletion syndrome caused by haploinsufficiency of genes at 7q11. 23. Here we describe the identification and characterization of a novel gene named GTF2IRD1, for GTF2I-repeat domain 1, within the WBS deletion region. Northern blot analysis revealed ubiquitous expression during development with two transcripts of 3.6 kb and 5.0 kb generated by alternative splicing. GTF2IRD1 encodes a protein of 944 amino acids that contains a region of high similarity to a unique motif with helix-loop-helix forming potential occurring within the transcription factor GTF2I. Analogous to TFII-I, the product of GTF2IRD1 may have the ability to interact with other HLH-proteins and function as a transcription factor or as a negative transcriptional regulator. A recent report of the identification of a muscle-specific transcription factor, MusTRD1, supports this hypothesis (O’Mahoney et al., 1998). The open reading frame described for MusTRD1 is identical to that of GTF2IRD1; however, the putative MusTRD1-protein is 486 amino acids shorter than the predicted protein encoded by GTF2IRD1. A heterozygous deletion of GTF2IRD1 may contribute to the complex WBS phenotype.