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AutorRoessler, Erich
AutorEl-Jaick, Kenia B.
AutorDubourg, Christèle
AutorVélez, Jorge I.
AutorSolomon, Benjamin D.
AutorPineda-Álvarez, Daniel E.
AutorLacbawan, Felicitas
AutorZhou, Nan
AutorOuspenskaia, Maia
AutorPaulussen, Aimée
AutorSmeets, Hubert J.
AutorHehr, Ute
AutorBendavid, Claude
AutorBale, Sherri
AutorOdent, Sylvie
AutorDavid, Véronique
AutorMuenke, Maximilian
Data de acesso2020-01-08T15:23:22Z
Data de disponibilização2020-01-08T15:23:22Z
Data do publicação2009
CitaçãoROESSLER, Erich. et al. The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis. Human Mutation, v. 30, p. 921-935, 2009.pt_BR
ISSN1059-7794pt_BR
URIhttps://www.arca.fiocruz.br/handle/icict/39068
DescriçãoKenia B. El-Jaick. Fundação Oswaldo Cruz. Instituto Nacional de Infectologia Evandro Chagas. Documento produzido em parceria ou por autor vinculado à Fiocruz, mas não consta a informação no documento.pt_BR
Idiomaengpt_BR
EditorWileypt_BR
Direito Autoralrestricted accesspt_BR
TítuloThe mutational spectrum of holoprosencephaly-associated changes within the gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesispt_BR
Tipo do documentoArticle
DOI10.1002/humu.21090
Resumo em InglêsMutations 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.pt_BR
AfiliaçãoNational Institutes of Health. National Human Genome Research Institute. Medical Genetics Branch. Bethesda, MD, USA.pt_BR
AfiliaçãoNational Institutes of Health. National Human Genome Research Institute. Medical Genetics Branch. Bethesda, MD, USA.pt_BR
AfiliaçãoCHU Pontchaillou. Laboratoire de Génétique Moléculaire. Rennes, France / Université de Rennes. Génétique et Développement. CNRS UMR6061. Rennes, Francept_BR
AfiliaçãoNational Institutes of Health. National Human Genome Research Institute. Medical Genetics Branch. Bethesda, MD, USA.pt_BR
AfiliaçãoNational Institutes of Health. National Human Genome Research Institute. Medical Genetics Branch. Bethesda, MD, USA.pt_BR
AfiliaçãoNational Institutes of Health. National Human Genome Research Institute. Medical Genetics Branch. Bethesda, MD, USA.pt_BR
AfiliaçãoNational Institutes of Health. National Human Genome Research Institute. Medical Genetics Branch. Bethesda, MD, USA.pt_BR
AfiliaçãoNational Institutes of Health. National Human Genome Research Institute. Medical Genetics Branch. Bethesda, MD, USA.pt_BR
AfiliaçãoNational Institutes of Health. National Human Genome Research Institute. Medical Genetics Branch. Bethesda, MD, USA.pt_BR
AfiliaçãoUniversity of Maastricht. Academic Hospital. Maastricht, Netherlands / University of Maastricht. Department of Clinical Genetics. Maastricht, Netherlands.pt_BR
AfiliaçãoUniversity of Maastricht. Academic Hospital. Maastricht, Netherlands / University of Maastricht. Department of Clinical Genetics. Maastricht, Netherlands.pt_BR
AfiliaçãoUniversity of Regensburg. Center for Human Genetics. Department of Human Genetics. Regensburg, Germany.pt_BR
AfiliaçãoCHU Pontchaillou. Laboratoire de Génétique Moléculaire. Rennes, France / Université de Rennes. Génétique et Développement. CNRS UMR6061. Rennes, Francept_BR
AfiliaçãoGeneDx. Gaithersburg, MD, USA.pt_BR
AfiliaçãoUniversité de Rennes. Génétique et Développement. CNRS UMR6061. Rennes, France / CHU Hôpital Sud. Service de génétique clinique. Rennes, Francept_BR
AfiliaçãoCHU Pontchaillou. Laboratoire de Génétique Moléculaire. Rennes, France / Université de Rennes. Génétique et Développement. CNRS UMR6061. Rennes, Francept_BR
AfiliaçãoNational Institutes of Health. National Human Genome Research Institute. Medical Genetics Branch. Bethesda, MD, USA.pt_BR
Palavras-chave em inglêsHoloprosencephalypt_BR
Palavras-chave em inglêsMutation spectrumpt_BR
Palavras-chave em inglêsSHHpt_BR
Palavras-chave em inglêsProtein processingpt_BR
e-ISSN1098-1004


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