Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development
Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development
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DOI：
10.1016/j.modgep.2006.11.008
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发表时间：
2007-02-01
影响因子：
1.2
通讯作者：
Hardeman, Edna C.
中科院分区：
文献类型：
--
作者：
Palmer, Stephen J.;Tay, Enoch S. E.;Hardeman, Edna C.
基因GTF 2 IRD 1位于7号染色体上的关键区域内，该区域在威廉姆斯综合征患者中缺失。在该区域内携带可变缺失的患者的基因型-表型比较表明，GTF 2 IRD 1和密切相关的同源物GTF 2 I是导致威廉姆斯综合征主要症状的主要候选基因。我们已经产生了一个nls-LacZ敲入突变的Gtj 2 ird 1等位基因的小鼠，研究其功能作用，并检查其表达谱。在成人中，表达在中枢和外周神经系统的神经元、眼视网膜、嗅上皮、耳蜗螺旋神经节、棕色脂肪细胞中最显著，在心脏和平滑肌的肌细胞中表达程度较低。在发育过程中，主要在肌肉骨骼组织、垂体、颅面组织、眼睛和牙芽中发现动态表达模式。Gtf 2 ird 1在这些组织中的表达与威廉姆斯综合征的一些临床特征的表现相关。(c)2006 Elsevier B. V.保留所有权利。
The gene GTF2IRD1 is localized within the critical region on chromosome 7 that is deleted in Williams syndrome patients. Genotype-phenotype comparisons of patients carrying variable deletions within this region have implicated GTF2IRD1 and a closely related homolog, GTF2I, as prime candidates for the causation of the principal symptoms of Williams syndrome. We have generated mice with an nls-LacZ knockin mutation of the Gtj2ird1 allele to study its functional role and examine its expression profile. In adults, expression is most prominent in neurons of the central and peripheral nervous system, the retina of the eye, the olfactory epithelium, the spiral ganglion of the cochlea, brown fat adipocytes and to a lesser degree myocytes of the heart and smooth muscle. During development, a dynamic pattern of expression is found predominantly in musculoskeletal tissues, the pituitary, craniofacial tissues, the eyes and tooth buds. Expression of Gtf2ird1 in these tissues correlates with the manifestation of some of the clinical features of Williams syndrome. (c) 2006 Elsevier B.V. All rights reserved.