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dc.contributor.author
Favaro, Francine P.  
dc.contributor.author
Alvizi, Lucas  
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Zechi Ceide, Roseli M.  
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Bertola, Debora  
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Felix, Temis M.  
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de Souza, Josiane  
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Raskin, Salmo  
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Twigg, Stephen R. F.  
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Weiner, Andrea Maria Julia  
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Armas, Pablo  
dc.contributor.author
Margarit, Ezequiel  
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Calcaterra, Nora Beatriz  
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Andersen, Gregers R.  
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McGowan, Simon J.  
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Wilkie, Andrew O. M.  
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Richieri Costa, Antonio  
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de Almeida, Maria L. G.  
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Passos Bueno, Maria Rita  
dc.date.available
2016-12-05T20:07:46Z  
dc.date.issued
2014-01  
dc.identifier.citation
Favaro, Francine P.; Alvizi, Lucas; Zechi Ceide, Roseli M.; Bertola, Debora; Felix, Temis M.; et al.; A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects; Cell Press; American Journal Of Human Genetics; 94; 1; 1-2014; 120-128  
dc.identifier.issn
0002-9297  
dc.identifier.uri
http://hdl.handle.net/11336/8819  
dc.description.abstract
Richieri-Costa-Pereira syndrome is an autosomal-recessive acrofacial dysostosis characterized by mandibular median cleft associated with other craniofacial anomalies and severe limb defects. Learning and language disabilities are also prevalent. We mapped the mutated gene to a 122 kb region at 17q25.3 through identity-by-descent analysis in 17 genealogies. Sequencing strategies identified an expansion of a region with several repeats of 18- or 20-nucleotide motifs in the 50 untranslated region (50 UTR) of EIF4A3, which contained from 14 to 16 repeats in the affected individuals and from 3 to 12 repeats in 520 healthy individuals. A missense substitution of a highly conserved residue likely to affect the interaction of eIF4AIII with the UPF3B subunit of the exon junction complex in trans with an expanded allele was found in an unrelated individual with an atypical presentation, thus expanding mutational mechanisms and phenotypic diversity of RCPS. EIF4A3 transcript abundance was reduced in both white blood cells and mesenchymal cells of RCPSaffected individuals as compared to controls. Notably, targeting the orthologous eif4a3 in zebrafish led to underdevelopment of several craniofacial cartilage and bone structures, in agreement with the craniofacial alterations seen in RCPS. Our data thus suggest that RCPS is caused by mutations in EIF4A3 and show that EIF4A3, a gene involved in RNA metabolism, plays a role in mandible, laryngeal, and limb morphogenesis.  
dc.format
application/pdf  
dc.language.iso
eng  
dc.publisher
Cell Press  
dc.rights
info:eu-repo/semantics/openAccess  
dc.rights.uri
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/  
dc.rights.uri
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/  
dc.subject
Noncoding Expansion  
dc.subject
Richieri-Costa-Pereira Syndrome  
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Craniofacial Disorder  
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Limb Defects  
dc.subject.classification
Genética Humana  
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Medicina Básica  
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CIENCIAS MÉDICAS Y DE LA SALUD  
dc.title
A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects  
dc.type
info:eu-repo/semantics/article  
dc.type
info:ar-repo/semantics/artículo  
dc.type
info:eu-repo/semantics/publishedVersion  
dc.date.updated
2016-11-24T19:37:09Z  
dc.journal.volume
94  
dc.journal.number
1  
dc.journal.pagination
120-128  
dc.journal.pais
Estados Unidos  
dc.journal.ciudad
Baltimore  
dc.description.fil
Fil: Favaro, Francine P.. Universidade de Sao Paulo; Brasil  
dc.description.fil
Fil: Alvizi, Lucas. Universidade de Sao Paulo; Brasil  
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Fil: Zechi Ceide, Roseli M.. Universidade de Sao Paulo; Brasil  
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Fil: Bertola, Debora. Universidade de Sao Paulo; Brasil  
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Fil: Felix, Temis M.. Universidade Federal do Rio Grande do Sul; Brasil  
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Fil: de Souza, Josiane. Centro de Atendimento Integral ao Fissurado La´bio Palatal; Brasil  
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Fil: Raskin, Salmo. Pontifícia Universidade Católica do Paraná. Núcleo de Investigação Molecular Avançada. Centro de Ciências Biológicas e da Saúde; Brasil  
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Fil: Twigg, Stephen R. F.. University of Oxford; Reino Unido  
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Fil: Weiner, Andrea Maria Julia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Rosario. Instituto de Biología Molecular y Celular de Rosario; Argentina  
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Fil: Armas, Pablo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Rosario. Instituto de Biología Molecular y Celular de Rosario; Argentina  
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Fil: Margarit, Ezequiel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Rosario. Instituto de Biología Molecular y Celular de Rosario; Argentina  
dc.description.fil
Fil: Calcaterra, Nora Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Rosario. Instituto de Biología Molecular y Celular de Rosario; Argentina  
dc.description.fil
Fil: Andersen, Gregers R.. University Aarhus; Dinamarca  
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Fil: McGowan, Simon J.. University of Oxford; Reino Unido  
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Fil: Wilkie, Andrew O. M.. University of Oxford; Reino Unido  
dc.description.fil
Fil: Richieri Costa, Antonio. Universidade de Sao Paulo; Brasil  
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Fil: de Almeida, Maria L. G.. Universidade de Sao Paulo; Brasil  
dc.description.fil
Fil: Passos Bueno, Maria Rita. Universidade de Sao Paulo; Brasil  
dc.journal.title
American Journal Of Human Genetics  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/http://www.sciencedirect.com/science/article/pii/S0002929713005351  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1016/j.ajhg.2013.11.020