内皮素3
生物
内皮素受体
巨结肠
受体
突变
基因
分子生物学
内皮素
内分泌学
免疫学
内科学
遗传学
医学
作者
Amy Greenstein Baynash,Kiminori Hosoda,Adel Giaid,James A. Richardson,Noriaki Emoto,Robert E. Hammer,Masashi Yanagisawa
出处
期刊:Cell
[Elsevier]
日期:1994-12-01
卷期号:79 (7): 1277-1285
被引量:932
标识
DOI:10.1016/0092-8674(94)90018-3
摘要
Defects in the gene encoding the endothelin-B receptor produce aganglionic megacolon and pigmentary disorders in mice and humans. We report that a targeted disruption of the mouse endothelin-3 ligand (EDN3) gene produces a similar recessive phenotype of megacolon and coat color spotting. A natural recessive mutation that results in the same developmental defects in mice, lethal spotting (ls), failed to complement the targeted EDN3 allele. The ls mice carry a point mutation of the EDN3 gene, which replaces the Arg residue at the C-terminus of the inactive intermediate big EDN3 with a Trp residue. This mutation prevents the proteolytic activation of big EDN3 by ECE-1. These findings indicate that interaction of EDN3 with the endothelin-B receptor is essential in the development of neural crest-derived cell lineages. We postulate that defects in the human EDN3 gene may cause Hirschsprung's disease.
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