Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events

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• dc.contributor.author Bosch Pagès, Ninaca
• dc.contributor.author Cáceres Aguilar, Marioca
• dc.contributor.author Cardone, Maria Francescaca
• dc.contributor.author Carreras, Annaca
• dc.contributor.author Ballana Guix, Esterca
• dc.contributor.author Rocchi, Marianoca
• dc.contributor.author Armengol i Dulcet, Lluísca
• dc.contributor.author Estivill, Xavier, 1955-ca
• dc.date.accessioned 2012-05-30T07:17:37Z
• dc.date.available 2012-05-30T07:17:37Z
• dc.date.issued 2007ca
• dc.description.abstract Genomic plasticity of human chromosome 8p23.1 region is highly influenced by two groups of complex segmental duplications (SDs), termed REPD and REPP, that mediate different kinds of rearrangements. Part of the difficulty to explain the wide range of phenotypes associated with 8p23.1 rearrangements is that REPP and REPD are not yet well characterized, probably due to their polymorphic status. Here, we describe a novel primate-specific gene family, named FAM90A (family with sequence similarity 90), found within these SDs. According to the current human reference sequence assembly, the FAM90A family includes 24 members along 8p23.1 region plus a single member on chromosome 12p13.31, showing copy number variation (CNV) between individuals. These genes can be classified into subfamilies I and II, which differ in their upstream and 5′-untranslated region sequences, but both share the same open reading frame and are ubiquitously expressed. Sequence analysis and comparative fluorescence in situ hybridization studies showed that FAM90A subfamily II suffered a big expansion in the hominoid lineage, whereas subfamily I members were likely generated sometime around the divergence of orangutan and African great apes by a fusion process. In addition, the analysis of the Ka/Ks ratios provides evidence of functional constraint of some FAM90A genes in all species. The characterization of the FAM90A gene family contributes to a better understanding of the structural polymorphism of the human 8p23.1 region and constitutes a good example of how SDs, CNVs and rearrangements within themselves can promote the formation of new gene sequences with potential functional consequences.
• dc.format.mimetype application/pdfca
• dc.identifier.citation Cáceres M, Cardone MF, Carreras A, Ballana E, Rocchi M, Armengol L, Estivill X. Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events. Hum. Mol. Genet. 2007;16(21):2572-82. DOI: 10.1093/hmg/ddm209ca
• dc.identifier.doi http://dx.doi.org/10.1093/hmg/ddm209
• dc.identifier.issn 1460-2083ca
• dc.identifier.uri http://hdl.handle.net/10230/16488
• dc.language.iso engca
• dc.publisher Oxford University Pressca
• dc.relation.ispartof Human Molecular Genetics. 2007;16(21):2572-82
• dc.rights © 2007 Oxford University Press. This is a pre-copy-editing, author-produced PDF of an article accepted for publication in Human Molecular Genetics following peer review. The definitive publisher-authenticated version Cáceres M, Cardone MF, Carreras A, Ballana E, Rocchi M, Armengol L, Estivill X. Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events. Hum. Mol. Genet. 2007; 16(21): 2572-82 is available online at: http://hmg.oxfordjournals.org/content/16/21/2572ca
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.subject.other Genoma humà
• dc.subject.other Genètica evolutiva
• dc.subject.other Cromosomes
• dc.title Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement eventsca
• dc.type info:eu-repo/semantics/articleca
• dc.type.version info:eu-repo/semantics/acceptedVersion