Thompson P D, Webb M, Beckett W, Hinsley T, Jowitt T, Sharrocks A D, Tassabehji M
Academic Unit of Medical Genetics, The University of Manchester, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK.
FEBS Lett. 2007 Mar 20;581(6):1233-42. doi: 10.1016/j.febslet.2007.02.040. Epub 2007 Feb 28.
GTF2IRD1 is a member of a family of transcription factors whose defining characteristic is varying numbers of a helix-loop-helix like motif, the I-repeat. Here, we present functional analysis of human GTF2IRD1 in regulation of three genes (HOXC8, GOOSECOID and TROPONIN I(SLOW)). We define a regulatory motif (GUCE-GTF2IRD1 Upstream Control Element) common to all three genes. GUCE is bound in vitro by domain I-4 of GTF2IRD1 and mediates transcriptional regulation by GTF2IRD1 in vivo. Definition of this site will assist in identification of other downstream targets of GTF2IRD1 and elucidation of its role in the human developmental disorder Williams-Beuren syndrome.
GTF2IRD1是转录因子家族的成员，其显著特征是具有数量不等的类似螺旋-环-螺旋基序，即I-重复序列。在此，我们展示了人类GTF2IRD1在调控三个基因（HOXC8、GOOSECOID和肌钙蛋白I（慢型））方面的功能分析。我们定义了这三个基因共有的一个调控基序（GUCE - GTF2IRD1上游控制元件）。GUCE在体外与GTF2IRD1的结构域I - 4结合，并在体内介导GTF2IRD1的转录调控。确定该位点将有助于识别GTF2IRD1的其他下游靶点，并阐明其在人类发育障碍威廉姆斯-博伦综合征中的作用。
