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Analysis of the multi-copy gene family FAM90A as a copy number variant in different ethnic backgrounds

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dc.contributor.author Bosch Pagès, Nina
dc.contributor.author Escaramís, Geòrgia
dc.contributor.author Mercader Bigas, Josep Maria
dc.contributor.author Armengol i Dulcet, Lluís
dc.contributor.author Estivill, Xavier, 1955-
dc.date.accessioned 2012-05-09T10:01:50Z
dc.date.available 2012-05-09T10:01:50Z
dc.date.issued 2008
dc.identifier.citation Bosch N, Escaramís G, Mercader JM, Armengol L, Estivill X. Analysis of the multi-copy gene family FAM90A as a copy number variant in different ethnic backgrounds. Gene. 2008; 420(2): 113-7. DOI: 10.1016/j.gene.2008.05.003
dc.identifier.issn 0378-1119
dc.identifier.uri http://hdl.handle.net/10230/16436
dc.description.abstract Copy number variants contribute extensively to inter-individual genomic differences, but little is known about their inter-population variability and diversity. In a previous study (Bosch et al., 2007; 16:2572-2582), we reported that the primate-specific gene family FAM90A, which accounts for as many as 25 members in the human reference assembly, has expanded the number of FAM90A clusters across the hominoid lineage. Here we examined the copy number variability of FAM90A genes in 260 HapMap samples of European, African, and Asian ancestry, and showed significant inter-population differences (p<0.0001). Based on the recent study of Stranger et al. (2007; 315:848-853), we also explored the correlation between copy number variability and expression levels of the FAM90A gene family. Despite the high genomic variability, we found a low correlation between FAM90A copy number and expression levels, which could be due to the action of independent trans-acting factors. Our results show that FAM90A is highly variable in copy number between individuals and between populations. However, this variability has little impact on gene expression levels, thus highlighting the importance of genomic variability for genes located in regions containing segmental duplications.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Elsevier
dc.relation.ispartof Gene. 2008; 420(2): 113-7
dc.rights © 2008 Elsevier. Published article is available at: http://dx.doi.org/10.1016/j.gene.2008.05.003
dc.subject.other Genoma humà
dc.subject.other Genètica de poblacions
dc.title Analysis of the multi-copy gene family FAM90A as a copy number variant in different ethnic backgrounds
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1016/j.gene.2008.05.003
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/acceptedVersion

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