Molecular characterization of a de novo t (11;18) translocation associated with Peter´s anomaly

Detalhes bibliográficos
Autor(a) principal: Araújo, Carlos Jorge Trindade
Data de Publicação: 2013
Tipo de documento: Dissertação
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10362/11893
Resumo: Dissertação para obtenção do grau de Mestre em Genética Molecular e Biomedicina
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spelling Molecular characterization of a de novo t (11;18) translocation associated with Peter´s anomalyChromosome balanced translocationPeter´s anomalyEctopia lentisPVRL1CYP1B1EDIL3Dissertação para obtenção do grau de Mestre em Genética Molecular e BiomedicinaPeter’s anomaly (PA) is a congenital defect of the anterior chamber of the eye. The aim of this study is molecular characterization of a de novo balanced chromosome translocation [t(11;18)(q23.3;q11.2)] identified in a proband with syndromic form of Peter´s anomaly (ectopia lentis and mild CNS abnormalities). Chromosome breakpoints were identified at nucleotide resolution. The 11q23.3 breakpoint is at position 120,097,868 (genome assembly GRCh37/hg19) within intron 3 of out of first protein homolog gene (OAF) while, 18q11.2 breakpoint in the intergenic region between CTAGE1 and RBBP8 genes, at position 20,220,714. Although OAF is disrupted, its expression level is unchanged in proband´s lymphoblastoid cell line (LCL). Cell adhesion protein Nectin 1 or PVRL1, located 500 kb upstream from 11q23.3 breakpoint, reveal 3.5 fold increase in proband’s LCL. Expression levels of additional genes from breakpoint regions are not significantly different. Furthermore, RT-qPCR confirmed that expression level CYP1B1 from chromosome 2p22.2, and EDIL3 from chromosome 5q14 are significantly changed in proband´s LCL, 16.5 fold decrease and 126 fold increase, respectively. Alterations in CYP1B1 have been reported as PA causing mutations. Therefore, mutation screening of CYP1B1 was performed and no pathogenic mutation was identified in the proband, although, a disease-causing 13 bp, homozygous deletion was identified in a Portuguese patient with PA. In conclusion, we hypothesize that PVRL1 is a candidate gene for at least some of the observed clinical features, which is elicited in mouse models by association of its paralog PVRL3 to lens and other ocular defects involving the ciliary body. Furthermore, the involvement of the POU family domain containing transcription factor (POU2F3) from 11q23.3 and CYP1B1 or EDIL3, localized outside of the breakpoint regions, in the underlying molecular pathogenesis of syndromic PA remains to be determined.Faculdade de Ciências e TecnologiaDavid, DezsoRUNAraújo, Carlos Jorge Trindade20132013-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/masterThesisapplication/pdfhttp://hdl.handle.net/10362/11893enginfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-10T15:30:59ZPortal AgregadorONG
dc.title.none.fl_str_mv Molecular characterization of a de novo t (11;18) translocation associated with Peter´s anomaly
title Molecular characterization of a de novo t (11;18) translocation associated with Peter´s anomaly
spellingShingle Molecular characterization of a de novo t (11;18) translocation associated with Peter´s anomaly
Araújo, Carlos Jorge Trindade
Chromosome balanced translocation
Peter´s anomaly
Ectopia lentis
PVRL1
CYP1B1
EDIL3
title_short Molecular characterization of a de novo t (11;18) translocation associated with Peter´s anomaly
title_full Molecular characterization of a de novo t (11;18) translocation associated with Peter´s anomaly
title_fullStr Molecular characterization of a de novo t (11;18) translocation associated with Peter´s anomaly
title_full_unstemmed Molecular characterization of a de novo t (11;18) translocation associated with Peter´s anomaly
title_sort Molecular characterization of a de novo t (11;18) translocation associated with Peter´s anomaly
author Araújo, Carlos Jorge Trindade
author_facet Araújo, Carlos Jorge Trindade
author_role author
dc.contributor.none.fl_str_mv David, Dezso
RUN
dc.contributor.author.fl_str_mv Araújo, Carlos Jorge Trindade
dc.subject.por.fl_str_mv Chromosome balanced translocation
Peter´s anomaly
Ectopia lentis
PVRL1
CYP1B1
EDIL3
topic Chromosome balanced translocation
Peter´s anomaly
Ectopia lentis
PVRL1
CYP1B1
EDIL3
description Dissertação para obtenção do grau de Mestre em Genética Molecular e Biomedicina
publishDate 2013
dc.date.none.fl_str_mv 2013
2013-01-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/masterThesis
format masterThesis
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10362/11893
url http://hdl.handle.net/10362/11893
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Faculdade de Ciências e Tecnologia
publisher.none.fl_str_mv Faculdade de Ciências e Tecnologia
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv
repository.mail.fl_str_mv
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