A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects

Hiroyuki Yamagishi, Vidu Garg, Rumiko Matsuoka, Tiffani Thomas, Deepak Srivastava

研究成果: Article査読

236 被引用数 (Scopus)

抄録

Microdeletions of chromosome 22q11 are the most common genetic defects associated with cardiac and craniofacial anomalies in humans. A screen for mouse genes dependent on dHAND, a transcription factor implicated in neural crest development, identified Ufd1, which maps to human 22q11 and encodes a protein involved in degradation of ubiquitinated proteins. Mouse Ufd1 was specifically expressed in most tissues affected in patients with 22q11 deletion syndrome. The human UFD1L gene was deleted in all 182 patients studied with 22q11 deletion, and a smaller deletion of approximately 20 kilobases that removed exons 1 to 3 of UFD1L was found in one individual with features typical of 22q11 deletion syndrome. These data suggest that UFD1L haploinsufficiency contributes to the congenital heart and craniofacial defects seen in 22q11 deletion.

本文言語English
ページ(範囲)1158-1161
ページ数4
ジャーナルScience
283
5405
DOI
出版ステータスPublished - 1999 2月 19
外部発表はい

ASJC Scopus subject areas

  • 一般

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