Report

A Molecular Pathway Revealing a Genetic Basis for Human Cardiac and Craniofacial Defects

Science  19 Feb 1999:
Vol. 283, Issue 5405, pp. 1158-1161
DOI: 10.1126/science.283.5405.1158

You are currently viewing the abstract.

View Full Text

Via your Institution

Log in through your institution

Log in through your institution


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 ofUFD1L was found in one individual with features typical of 22q11 deletion syndrome. These data suggest that UFD1Lhaploinsufficiency contributes to the congenital heart and craniofacial defects seen in 22q11 deletion.

  • * These authors contributed equally to this work.

  • To whom correspondence should be addressed. E-mail: dsriva{at}mednet.swmed.edu

View Full Text

Cited By...