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Mutant Neurogenin-3 in congenital malabsorptive diarrhea
Authors
Marvin E. Ament
Travis J. Bailey
+14 more
Jang-Hyeon Cho
Galen Cortina
Douglas G. Farmer
George Gershman
Ivor D. Hill
Milan Jamrich
Martin G. Martín
Laurie Reyen
Robert Tran
William R. Treem
Ming-Jer Tsai
Jorge H. Vargas
Jiafang Wang
S. Vincent Wu
Publication date
1 January 2006
Publisher
KnightScholar
Abstract
Background: Neurogenin-3 (NEUROG3) is expressed in endocrine progenitor cells and is required for endocrine-cell development in the pancreas and intestine. The NEUROG3 gene (NEUROG3) is therefore a candidate for the cause of a newly discovered autosomal recessive disorder characterized by generalized malabsorption and a paucity of enteroendocrine cells. Methods: We screened genomic DNA from three unrelated patients with sparse enteroendocrine cells for mutations of NEUROG3. We then tested the ability of the observed mutations to alter NEUROG3 function, using in vitro and in vivo assays. Results: The patients had few intestinal enteroendocrine cells positive for chromogranin A, but they had normal numbers of Paneth\u27s, goblet, and absorptive cells. We identified two homozygous mutations in NEUROG3, both of which rendered the NEUROG3 protein unable to activate NEUROD1, a downstream target of NEUROG3, and compromised the ability of NEUROG3 to bind to an E-box element in the NEUROD1 promoter. The injection of wild-type but not mutant NEUROG3 messenger RNA into xenopus embryos induced NEUROD1 expression. Conclusions: A newly discovered disorder characterized by malabsorptive diarrhea and a lack of intestinal enteroendocrine cells is caused by loss-of-function mutations in NEUROG3. Copyright © 2006 Massachusetts Medical Society
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Last time updated on 25/04/2020