The mutational spectrum of holoprosencephaly-associated changes within theSHHgene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

Roessler, Erich ; El-Jaick, Kenia B. ; Dubourg, Christèle ; Vélez, Jorge I. ; Solomon, Benjamin D. ; Pineda-Álvarez, Daniel E. ; Lacbawan, Felicitas ; Zhou, Nan ; Ouspenskaia, Maia ; Paulussen, Aimée ; Smeets, Hubert J. ; Hehr, Ute ; Bendavid, Claude ; Bale, Sherri ; Odent, Sylvie ; David, Véronique ; Muenke, Maximilian

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Details

Item type:	Article
Journal or Publication Title:	Human Mutation
Publisher:	WILEY
Place of Publication:	HOBOKEN
Volume:	30
Number of Issue or Book Chapter:	10
Page Range:	E921-E935
Date:	2009
Institutions:	Medicine > Lehrstuhl für Humangenetik
Identification Number:	Value Type 10.1002/humu.21090 DOI
Keywords:	MAXILLARY CENTRAL INCISOR; SONIC-HEDGEHOG GENE; BRACHYDACTYLY TYPE A1; HUMAN SIX3 GENE; GONADAL-DYSGENESIS; DESERT-HEDGEHOG; INDIAN HEDGEHOG; HETEROZYGOUS MUTATION; CRYSTAL-STRUCTURE; TERMINAL DOMAIN; holoprosencephaly; mutation spectrum; SHH; protein processing
Dewey Decimal Classification:	600 Technology > 610 Medical sciences Medicine
Status:	Published
Refereed:	Yes, this version has been refereed
Created at the University of Regensburg:	Yes
Item ID:	66879

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Abstract

Mutations within either the SHH gene or its related pathway components are the most common, and best understood, pathogenetic changes observed in holoprosencephaly patients; this fact is consistent with the essential functions of this gene during forebrain development and patterning. Here we summarize the nature and types of deleterious sequence alterations among over one hundred distinct ...

Abstract

Mutations within either the SHH gene or its related pathway components are the most common, and best understood, pathogenetic changes observed in holoprosencephaly patients; this fact is consistent with the essential functions of this gene during forebrain development and patterning. Here we summarize the nature and types of deleterious sequence alterations among over one hundred distinct mutations in the SHH gene (64 novel mutations) and compare these to over a dozen mutations in disease-related Hedgehog family members IHH and DHH. This combined structural analysis suggests that dysfunction of Hedgehog signaling in human forebrain development can occur through truncations or major structural changes to the signaling domain, SHH-N, as well as due to defects in the processing of the mature ligand from its pre-pro-precursor or defective post-translation bi-lipid modifications with palmitate and cholesterol (C) 2009 WileyLiss, Inc.

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