Article: Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly

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TitleMutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly
AuthorsRoessler, E1 2
Belloni, E3
Gaudenz, K2
Vargas, F1 2
Scherer, SW3
Tsui, LC3
Muenke, M1 2
Issue Date1997
PublisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
CitationHuman Molecular Genetics, 1997, v. 6 n. 11, p. 1847-1853 [How to Cite?]
DOI: http://dx.doi.org/10.1093/hmg/6.11.1847
AbstractHoloprosencephaly (HPE) is the most common brain anomaly in humans, involving abnormal formation and septation of the developing central nervous system. Among the heterogeneous causes of HPE, mutations in the Sonic Hedgehog (SHH) gene have been shown to result in an autosomal dominant form of the disorder. Here we describe a total of five different mutations in the processing domain encoded by exon 3 of SHH in familial and sporadic HPE. This is the first instance in humans where SHH mutations in the domain responsible for autocatalytic cleavage and cholesterol modification of the N-terminal signaling domain of the protein have been observed.
ISSN0964-6906
2011 Impact Factor: 7.636
2011 SCImago Journal Rankings: 1.308
Other Identifiershttp://hmg.oxfordjournals.org/cgi/reprint/6/11/1847
DOIhttp://dx.doi.org/10.1093/hmg/6.11.1847
ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorRoessler, E
dc.contributor.authorBelloni, E
dc.contributor.authorGaudenz, K
dc.contributor.authorVargas, F
dc.contributor.authorScherer, SW
dc.contributor.authorTsui, LC
dc.contributor.authorMuenke, M
dc.date.accessioned2007-09-12T03:51:34Z
dc.date.available2007-09-12T03:51:34Z
dc.date.issued1997
dc.description.abstractHoloprosencephaly (HPE) is the most common brain anomaly in humans, involving abnormal formation and septation of the developing central nervous system. Among the heterogeneous causes of HPE, mutations in the Sonic Hedgehog (SHH) gene have been shown to result in an autosomal dominant form of the disorder. Here we describe a total of five different mutations in the processing domain encoded by exon 3 of SHH in familial and sporadic HPE. This is the first instance in humans where SHH mutations in the domain responsible for autocatalytic cleavage and cholesterol modification of the N-terminal signaling domain of the protein have been observed.
dc.description.naturelink_to_OA_fulltext
dc.identifier.citationHuman Molecular Genetics, 1997, v. 6 n. 11, p. 1847-1853 [How to Cite?]
DOI: http://dx.doi.org/10.1093/hmg/6.11.1847
dc.identifier.doihttp://dx.doi.org/10.1093/hmg/6.11.1847
dc.identifier.epage1853
dc.identifier.isiWOS:A1997YB59000010
dc.identifier.issn0964-6906
2011 Impact Factor: 7.636
2011 SCImago Journal Rankings: 1.308
dc.identifier.issue11
dc.identifierhttp://hmg.oxfordjournals.org/cgi/reprint/6/11/1847
dc.identifier.pmid9302262
dc.identifier.scopuseid_2-s2.0-0030729082
dc.identifier.spage1847
dc.identifier.urihttp://hdl.handle.net/10722/44332
dc.identifier.volume6
dc.languageeng
dc.publisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
dc.publisher.placeUnited Kingdom
dc.relation.ispartofHuman Molecular Genetics
dc.relation.referencesReferences in Scopus
dc.subject.meshHoloprosencephaly - etiology - genetics
dc.subject.meshPoint mutation
dc.subject.meshProteins - genetics
dc.subject.meshGlutamic acid - genetics
dc.subject.meshAlanine - genetics
dc.titleMutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly
dc.typeArticle
Author Affiliations
  1. National Human Genome Research Institute
  2. The Children's Hospital of Philadelphia
  3. Hospital for Sick Children, Toronto