Molecular characterization of homozygous hereditary factor I deficiency
Autor(a) principal: | |
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Data de Publicação: | 2003 |
Outros Autores: | , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNIFESP |
Texto Completo: | http://repositorio.unifesp.br/handle/11600/27121 http://dx.doi.org/10.1046/j.1365-2249.2003.02077.x |
Resumo: | We have studied the molecular basis of factor I (fI) deficiency in two Brazilian sisters from a consanguineous family. By reverse transcription-polymerase chain reaction we observed that all fI cDNA amplified products from one sister had the same size as those of normal cDNA, however, they were significantly less intense. Sequencing analysis of subcloned cDNA revealed a dinucleotide insertion (AT) between positions 1204 and 1205 in the 11th exon that creates a stop codon 13 bp downstream of the insertion site. Genomic DNA sequencing and heteroduplex analysis confirmed that both probands are homozygous for this mutation, whereas their parents are heterozygous. the stop codon and the diminished amounts of fI cDNA could indicate increased fI mRNA instability, perhaps due to a mechanism of nonsense-mediated decay. This hypothesis is consistent with our observation that treatment with the translation inhibitor cycloheximide stabilized fI mRNA expression in proband's fibroblasts. |
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Baracho, Gisele VanessaNudelman, Victor [UNIFESP]Isaac, LourdesUniversidade de São Paulo (USP)Hosp Israelita Albert EinsteinUniversidade Federal de São Paulo (UNIFESP)2016-01-24T12:33:41Z2016-01-24T12:33:41Z2003-02-01Clinical and Experimental Immunology. Oxford: Blackwell Publishing Ltd, v. 131, n. 2, p. 280-286, 2003.0009-9104http://repositorio.unifesp.br/handle/11600/27121http://dx.doi.org/10.1046/j.1365-2249.2003.02077.x10.1046/j.1365-2249.2003.02077.xWOS:000180754400013We have studied the molecular basis of factor I (fI) deficiency in two Brazilian sisters from a consanguineous family. By reverse transcription-polymerase chain reaction we observed that all fI cDNA amplified products from one sister had the same size as those of normal cDNA, however, they were significantly less intense. Sequencing analysis of subcloned cDNA revealed a dinucleotide insertion (AT) between positions 1204 and 1205 in the 11th exon that creates a stop codon 13 bp downstream of the insertion site. Genomic DNA sequencing and heteroduplex analysis confirmed that both probands are homozygous for this mutation, whereas their parents are heterozygous. the stop codon and the diminished amounts of fI cDNA could indicate increased fI mRNA instability, perhaps due to a mechanism of nonsense-mediated decay. This hypothesis is consistent with our observation that treatment with the translation inhibitor cycloheximide stabilized fI mRNA expression in proband's fibroblasts.Univ São Paulo, Inst Ciencias Biomed, Dept Imunol, BR-05508 São Paulo, BrazilHosp Israelita Albert Einstein, Clin Lab, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Pediat, Disciplina Alergia Imunol & Reumatol, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Pediat, Disciplina Alergia Imunol & Reumatol, São Paulo, BrazilWeb of Science280-286engBlackwell Publishing LtdClinical and Experimental Immunologycomplement system immunodeficiency factor I mRNAdecaystop codonMolecular characterization of homozygous hereditary factor I deficiencyinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP11600/271212023-02-14 15:23:14.157metadata only accessoai:repositorio.unifesp.br:11600/27121Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestopendoar:34652023-05-25T12:30:20.446947Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false |
dc.title.en.fl_str_mv |
Molecular characterization of homozygous hereditary factor I deficiency |
title |
Molecular characterization of homozygous hereditary factor I deficiency |
spellingShingle |
Molecular characterization of homozygous hereditary factor I deficiency Baracho, Gisele Vanessa complement system immunodeficiency factor I mRNA decay stop codon |
title_short |
Molecular characterization of homozygous hereditary factor I deficiency |
title_full |
Molecular characterization of homozygous hereditary factor I deficiency |
title_fullStr |
Molecular characterization of homozygous hereditary factor I deficiency |
title_full_unstemmed |
Molecular characterization of homozygous hereditary factor I deficiency |
title_sort |
Molecular characterization of homozygous hereditary factor I deficiency |
author |
Baracho, Gisele Vanessa |
author_facet |
Baracho, Gisele Vanessa Nudelman, Victor [UNIFESP] Isaac, Lourdes |
author_role |
author |
author2 |
Nudelman, Victor [UNIFESP] Isaac, Lourdes |
author2_role |
author author |
dc.contributor.institution.none.fl_str_mv |
Universidade de São Paulo (USP) Hosp Israelita Albert Einstein Universidade Federal de São Paulo (UNIFESP) |
dc.contributor.author.fl_str_mv |
Baracho, Gisele Vanessa Nudelman, Victor [UNIFESP] Isaac, Lourdes |
dc.subject.eng.fl_str_mv |
complement system immunodeficiency factor I mRNA decay stop codon |
topic |
complement system immunodeficiency factor I mRNA decay stop codon |
description |
We have studied the molecular basis of factor I (fI) deficiency in two Brazilian sisters from a consanguineous family. By reverse transcription-polymerase chain reaction we observed that all fI cDNA amplified products from one sister had the same size as those of normal cDNA, however, they were significantly less intense. Sequencing analysis of subcloned cDNA revealed a dinucleotide insertion (AT) between positions 1204 and 1205 in the 11th exon that creates a stop codon 13 bp downstream of the insertion site. Genomic DNA sequencing and heteroduplex analysis confirmed that both probands are homozygous for this mutation, whereas their parents are heterozygous. the stop codon and the diminished amounts of fI cDNA could indicate increased fI mRNA instability, perhaps due to a mechanism of nonsense-mediated decay. This hypothesis is consistent with our observation that treatment with the translation inhibitor cycloheximide stabilized fI mRNA expression in proband's fibroblasts. |
publishDate |
2003 |
dc.date.issued.fl_str_mv |
2003-02-01 |
dc.date.accessioned.fl_str_mv |
2016-01-24T12:33:41Z |
dc.date.available.fl_str_mv |
2016-01-24T12:33:41Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.citation.fl_str_mv |
Clinical and Experimental Immunology. Oxford: Blackwell Publishing Ltd, v. 131, n. 2, p. 280-286, 2003. |
dc.identifier.uri.fl_str_mv |
http://repositorio.unifesp.br/handle/11600/27121 http://dx.doi.org/10.1046/j.1365-2249.2003.02077.x |
dc.identifier.issn.none.fl_str_mv |
0009-9104 |
dc.identifier.doi.none.fl_str_mv |
10.1046/j.1365-2249.2003.02077.x |
dc.identifier.wos.none.fl_str_mv |
WOS:000180754400013 |
identifier_str_mv |
Clinical and Experimental Immunology. Oxford: Blackwell Publishing Ltd, v. 131, n. 2, p. 280-286, 2003. 0009-9104 10.1046/j.1365-2249.2003.02077.x WOS:000180754400013 |
url |
http://repositorio.unifesp.br/handle/11600/27121 http://dx.doi.org/10.1046/j.1365-2249.2003.02077.x |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.ispartof.none.fl_str_mv |
Clinical and Experimental Immunology |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
280-286 |
dc.publisher.none.fl_str_mv |
Blackwell Publishing Ltd |
publisher.none.fl_str_mv |
Blackwell Publishing Ltd |
dc.source.none.fl_str_mv |
reponame:Repositório Institucional da UNIFESP instname:Universidade Federal de São Paulo (UNIFESP) instacron:UNIFESP |
instname_str |
Universidade Federal de São Paulo (UNIFESP) |
instacron_str |
UNIFESP |
institution |
UNIFESP |
reponame_str |
Repositório Institucional da UNIFESP |
collection |
Repositório Institucional da UNIFESP |
repository.name.fl_str_mv |
Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP) |
repository.mail.fl_str_mv |
|
_version_ |
1783460299892850688 |