Publication Date:
1999-02-19
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Yamagishi, H -- Garg, V -- Matsuoka, R -- Thomas, T -- Srivastava, D -- R01HL57181-01/HL/NHLBI NIH HHS/ -- New York, N.Y. -- Science. 1999 Feb 19;283(5405):1158-61.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Pediatrics, Division of Cardiology, University of Texas Southwestern Medical Center, 6000 Harry Hines Boulevard, Room NA8.124, Dallas, TX 75235-9148, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10024240" target="_blank"〉PubMed〈/a〉
Keywords:
Animals
;
Aorta, Thoracic/abnormalities/embryology/metabolism
;
Basic Helix-Loop-Helix Transcription Factors
;
Cell Cycle Proteins/genetics
;
Chromosomes, Human, Pair 22/*genetics
;
Craniofacial Abnormalities/*genetics
;
DNA-Binding Proteins/genetics/physiology
;
Embryo, Mammalian/metabolism
;
*Gene Deletion
;
Gene Expression Regulation, Developmental
;
Heart/embryology
;
Heart Defects, Congenital/*genetics
;
Humans
;
Mice
;
Neural Crest/cytology/embryology
;
Phenotype
;
Proteins/*genetics/physiology
;
Transcription Factors/genetics/physiology
;
Ubiquitins/metabolism
;
Zebrafish Proteins
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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