Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2011 |
| Outros Autores: | , , , , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | por |
| Título da fonte: | Repositório Institucional da UFBA |
| Texto Completo: | http://repositorio.ufba.br/ri/handle/ri/16302 |
Resumo: | Texto completo: acesso restrito. p. 1314–1321 |
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Lima, Renata Lúcia Leite Ferreira deRorick, Nicholas K.Kinoshita, AkiraWeirather, Jason L.Janvid, Myriam PeyrardDunnwald, MartineShanske, Alan L.Ferreira, Danilo MorettiKoillinen, HanneleKere, JuhaMansilla, Maria A.Murray, Jeffrey C.Goudy, Steve L.Schutte, Brian C.Lima, Renata Lúcia Leite Ferreira deRorick, Nicholas K.Kinoshita, AkiraWeirather, Jason L.Janvid, Myriam PeyrardDunnwald, MartineShanske, Alan L.Ferreira, Danilo MorettiKoillinen, HanneleKere, JuhaMansilla, Maria A.Murray, Jeffrey C.Goudy, Steve L.Schutte, Brian C.2014-10-03T19:19:36Z20111552-4825http://repositorio.ufba.br/ri/handle/ri/16302v. 155, n. 6Texto completo: acesso restrito. p. 1314–1321Genetic variation in the transcription factor interferon regulatory factor 6 (IRF6) causes and contributes risk for oral clefting disorders. We hypothesized that genes regulated by IRF6 are also involved in oral clefting disorders. We used five criteria to identify potential IRF6 target genes; differential gene expression in skin taken from wild-type and Irf6-deficient murine embryos, localization to the Van der Woude syndrome 2 (VWS2) locus at 1p36-1p32, overlapping expression with Irf6, presence of a conserved predicted-binding site in the promoter region, and a mutant murine phenotype that was similar to the Irf6 mutant mouse. Previously, we observed altered expression for 573 genes; 13 were located in the murine region syntenic to the VWS2 locus. Two of these genes, Wdr65 and Stratifin, met 4 of 5 criteria. Wdr65 was a novel gene that encoded a predicted protein of 1,250 amino acids with two WD domains. As potential targets for Irf6 regulation, we hypothesized that disease-causing mutations will be found in WDR65 and Stratifin in individuals with VWS or VWS-like syndromes. We identified a potentially etiologic missense mutation in WDR65 in a person with VWS who does not have an exonic mutation in IRF6. The expression and mutation data were consistent with the hypothesis that WDR65 was a novel gene involved in oral cleftingSubmitted by Edileide Reis (leyde-landy@hotmail.com) on 2014-03-24T14:18:13Z No. of bitstreams: 1 Renata L. L. Ferreira de Lima.pdf: 413195 bytes, checksum: b5a42d7066b6d17df1e66be529977fa7 (MD5)Approved for entry into archive by Alda Lima da Silva (sivalda@ufba.br) on 2014-10-03T19:19:36Z (GMT) No. of bitstreams: 1 Renata L. L. Ferreira de Lima.pdf: 413195 bytes, checksum: b5a42d7066b6d17df1e66be529977fa7 (MD5)Made available in DSpace on 2014-10-03T19:19:36Z (GMT). No. of bitstreams: 1 Renata L. L. Ferreira de Lima.pdf: 413195 bytes, checksum: b5a42d7066b6d17df1e66be529977fa7 (MD5) Previous issue date: 2011http://dx.doi.org/ 10.1002/ajmg.a.33980reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBACleft lipPalateMutationGene expressionSyndromeGenomicMicrovilliWD domainTranscription factorGenomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndromeAmerican Journal of Medical Genetics Part Ainfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article10000-01-01info:eu-repo/semantics/openAccessporORIGINALRenata L. L. Ferreira de Lima.pdfRenata L. L. Ferreira de Lima.pdfapplication/pdf413195https://repositorio.ufba.br/bitstream/ri/16302/1/Renata%20L.%20L.%20Ferreira%20de%20Lima.pdfb5a42d7066b6d17df1e66be529977fa7MD51LICENSElicense.txtlicense.txttext/plain1345https://repositorio.ufba.br/bitstream/ri/16302/2/license.txt0d4b811ef71182510d2015daa7c8a900MD52TEXTRenata L. 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| dc.title.pt_BR.fl_str_mv |
Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome |
| dc.title.alternative.pt_BR.fl_str_mv |
American Journal of Medical Genetics Part A |
| title |
Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome |
| spellingShingle |
Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome Lima, Renata Lúcia Leite Ferreira de Cleft lip Palate Mutation Gene expression Syndrome Genomic Microvilli WD domain Transcription factor |
| title_short |
Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome |
| title_full |
Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome |
| title_fullStr |
Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome |
| title_full_unstemmed |
Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome |
| title_sort |
Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome |
| author |
Lima, Renata Lúcia Leite Ferreira de |
| author_facet |
Lima, Renata Lúcia Leite Ferreira de Rorick, Nicholas K. Kinoshita, Akira Weirather, Jason L. Janvid, Myriam Peyrard Dunnwald, Martine Shanske, Alan L. Ferreira, Danilo Moretti Koillinen, Hannele Kere, Juha Mansilla, Maria A. Murray, Jeffrey C. Goudy, Steve L. Schutte, Brian C. |
| author_role |
author |
| author2 |
Rorick, Nicholas K. Kinoshita, Akira Weirather, Jason L. Janvid, Myriam Peyrard Dunnwald, Martine Shanske, Alan L. Ferreira, Danilo Moretti Koillinen, Hannele Kere, Juha Mansilla, Maria A. Murray, Jeffrey C. Goudy, Steve L. Schutte, Brian C. |
| author2_role |
author author author author author author author author author author author author author |
| dc.contributor.author.fl_str_mv |
Lima, Renata Lúcia Leite Ferreira de Rorick, Nicholas K. Kinoshita, Akira Weirather, Jason L. Janvid, Myriam Peyrard Dunnwald, Martine Shanske, Alan L. Ferreira, Danilo Moretti Koillinen, Hannele Kere, Juha Mansilla, Maria A. Murray, Jeffrey C. Goudy, Steve L. Schutte, Brian C. Lima, Renata Lúcia Leite Ferreira de Rorick, Nicholas K. Kinoshita, Akira Weirather, Jason L. Janvid, Myriam Peyrard Dunnwald, Martine Shanske, Alan L. Ferreira, Danilo Moretti Koillinen, Hannele Kere, Juha Mansilla, Maria A. Murray, Jeffrey C. Goudy, Steve L. Schutte, Brian C. |
| dc.subject.por.fl_str_mv |
Cleft lip Palate Mutation Gene expression Syndrome Genomic Microvilli WD domain Transcription factor |
| topic |
Cleft lip Palate Mutation Gene expression Syndrome Genomic Microvilli WD domain Transcription factor |
| description |
Texto completo: acesso restrito. p. 1314–1321 |
| publishDate |
2011 |
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2011 |
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2014-10-03T19:19:36Z |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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1552-4825 |
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v. 155, n. 6 |
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1552-4825 v. 155, n. 6 |
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http://repositorio.ufba.br/ri/handle/ri/16302 |
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