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

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

Research output: Contribution to journalArticle

223 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1158-1161
Number of pages4
JournalScience
Volume283
Issue number5405
DOIs
Publication statusPublished - 1999 Feb 19
Externally publishedYes

ASJC Scopus subject areas

  • General

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