Mutations in collagen 18A1 (COL18A1) and their relevance to the human phenotype
Autor(a) principal: | |
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Data de Publicação: | 2006 |
Outros Autores: | , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Anais da Academia Brasileira de Ciências (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652006000100012 |
Resumo: | Collagen XVIII, a proteoglycan, is a component of basement membranes (BMs). There are three distinct isoforms that differ only by their N-terminal, but with a specific pattern of tissue and developmental expression. Cleavage of its C-terminal produces endostatin, an inhibitor of angiogenesis. In its N-terminal, there is a frizzled motif which seems to be involved in Wnt signaling. Mutations in this gene cause Knobloch syndrome KS), an autosomal recessive disorder characterized by vitreoretinal and macular degeneration and occipital encephalocele. This review discusses the effect of both rare and polymorphic alleles in the human phenotype, showing that deficiency of one of the collagen XVIII isoforms is sufficient to cause KS and that null alleles causing deficiency of all collagen XVIII isoforms are associated with a more severe ocular defect. This review besides illustrating the functional importance of collagen XVIII in eye development and its structure maintenance throughout life, it also shows its role in other tissues and organs, such as nervous system and kidney. |
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Mutations in collagen 18A1 (COL18A1) and their relevance to the human phenotypeCOL18A1collagen XVIIIKnobloch syndromeeye developmentneuronal cell migrationcraniosynostosispolymorphismsD1437NCollagen XVIII, a proteoglycan, is a component of basement membranes (BMs). There are three distinct isoforms that differ only by their N-terminal, but with a specific pattern of tissue and developmental expression. Cleavage of its C-terminal produces endostatin, an inhibitor of angiogenesis. In its N-terminal, there is a frizzled motif which seems to be involved in Wnt signaling. Mutations in this gene cause Knobloch syndrome KS), an autosomal recessive disorder characterized by vitreoretinal and macular degeneration and occipital encephalocele. This review discusses the effect of both rare and polymorphic alleles in the human phenotype, showing that deficiency of one of the collagen XVIII isoforms is sufficient to cause KS and that null alleles causing deficiency of all collagen XVIII isoforms are associated with a more severe ocular defect. This review besides illustrating the functional importance of collagen XVIII in eye development and its structure maintenance throughout life, it also shows its role in other tissues and organs, such as nervous system and kidney.Academia Brasileira de Ciências2006-03-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652006000100012Anais da Academia Brasileira de Ciências v.78 n.1 2006reponame:Anais da Academia Brasileira de Ciências (Online)instname:Academia Brasileira de Ciências (ABC)instacron:ABC10.1590/S0001-37652006000100012info:eu-repo/semantics/openAccessPassos-Bueno,Maria RitaSuzuki,Oscar T.Armelin-Correa,Lucia M.Sertié,Andréa L.Errera,Flavia I.V.Bagatini,KellyKok,FernandoLeite,Katia R.M.eng2006-03-08T00:00:00Zoai:scielo:S0001-37652006000100012Revistahttp://www.scielo.br/aabchttps://old.scielo.br/oai/scielo-oai.php||aabc@abc.org.br1678-26900001-3765opendoar:2006-03-08T00:00Anais da Academia Brasileira de Ciências (Online) - Academia Brasileira de Ciências (ABC)false |
dc.title.none.fl_str_mv |
Mutations in collagen 18A1 (COL18A1) and their relevance to the human phenotype |
title |
Mutations in collagen 18A1 (COL18A1) and their relevance to the human phenotype |
spellingShingle |
Mutations in collagen 18A1 (COL18A1) and their relevance to the human phenotype Passos-Bueno,Maria Rita COL18A1 collagen XVIII Knobloch syndrome eye development neuronal cell migration craniosynostosis polymorphisms D1437N |
title_short |
Mutations in collagen 18A1 (COL18A1) and their relevance to the human phenotype |
title_full |
Mutations in collagen 18A1 (COL18A1) and their relevance to the human phenotype |
title_fullStr |
Mutations in collagen 18A1 (COL18A1) and their relevance to the human phenotype |
title_full_unstemmed |
Mutations in collagen 18A1 (COL18A1) and their relevance to the human phenotype |
title_sort |
Mutations in collagen 18A1 (COL18A1) and their relevance to the human phenotype |
author |
Passos-Bueno,Maria Rita |
author_facet |
Passos-Bueno,Maria Rita Suzuki,Oscar T. Armelin-Correa,Lucia M. Sertié,Andréa L. Errera,Flavia I.V. Bagatini,Kelly Kok,Fernando Leite,Katia R.M. |
author_role |
author |
author2 |
Suzuki,Oscar T. Armelin-Correa,Lucia M. Sertié,Andréa L. Errera,Flavia I.V. Bagatini,Kelly Kok,Fernando Leite,Katia R.M. |
author2_role |
author author author author author author author |
dc.contributor.author.fl_str_mv |
Passos-Bueno,Maria Rita Suzuki,Oscar T. Armelin-Correa,Lucia M. Sertié,Andréa L. Errera,Flavia I.V. Bagatini,Kelly Kok,Fernando Leite,Katia R.M. |
dc.subject.por.fl_str_mv |
COL18A1 collagen XVIII Knobloch syndrome eye development neuronal cell migration craniosynostosis polymorphisms D1437N |
topic |
COL18A1 collagen XVIII Knobloch syndrome eye development neuronal cell migration craniosynostosis polymorphisms D1437N |
description |
Collagen XVIII, a proteoglycan, is a component of basement membranes (BMs). There are three distinct isoforms that differ only by their N-terminal, but with a specific pattern of tissue and developmental expression. Cleavage of its C-terminal produces endostatin, an inhibitor of angiogenesis. In its N-terminal, there is a frizzled motif which seems to be involved in Wnt signaling. Mutations in this gene cause Knobloch syndrome KS), an autosomal recessive disorder characterized by vitreoretinal and macular degeneration and occipital encephalocele. This review discusses the effect of both rare and polymorphic alleles in the human phenotype, showing that deficiency of one of the collagen XVIII isoforms is sufficient to cause KS and that null alleles causing deficiency of all collagen XVIII isoforms are associated with a more severe ocular defect. This review besides illustrating the functional importance of collagen XVIII in eye development and its structure maintenance throughout life, it also shows its role in other tissues and organs, such as nervous system and kidney. |
publishDate |
2006 |
dc.date.none.fl_str_mv |
2006-03-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652006000100012 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652006000100012 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0001-37652006000100012 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Academia Brasileira de Ciências |
publisher.none.fl_str_mv |
Academia Brasileira de Ciências |
dc.source.none.fl_str_mv |
Anais da Academia Brasileira de Ciências v.78 n.1 2006 reponame:Anais da Academia Brasileira de Ciências (Online) instname:Academia Brasileira de Ciências (ABC) instacron:ABC |
instname_str |
Academia Brasileira de Ciências (ABC) |
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ABC |
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ABC |
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Anais da Academia Brasileira de Ciências (Online) |
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Anais da Academia Brasileira de Ciências (Online) |
repository.name.fl_str_mv |
Anais da Academia Brasileira de Ciências (Online) - Academia Brasileira de Ciências (ABC) |
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||aabc@abc.org.br |
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1754302856493531136 |