Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism
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- dc.contributor.author Bosch Pagès, Ninaca
- dc.contributor.author Morell, Martaca
- dc.contributor.author Ponsa, Immaculadaca
- dc.contributor.author Mercader Bigas, Josep Mariaca
- dc.contributor.author Armengol i Dulcet, Lluísca
- dc.contributor.author Estivill, Xavier, 1955-ca
- dc.date.accessioned 2012-05-09T10:01:52Z
- dc.date.available 2012-05-09T10:01:52Z
- dc.date.issued 2009ca
- dc.description.abstract Background: The human chromosome 8p23.1 region contains a 3.8–4.5 Mb segment which can be found in different orientations (defined as genomic inversion) among individuals. The identification of single nucleotide polymorphisms (SNPs) tightly linked to the genomic orientation of a given region should be useful to indirectly evaluate the genotypes of large genomic orientations in the individuals. Results: We have identified 16 SNPs, which are in linkage disequilibrium (LD) with the 8p23.1 inversion as detected by fluorescent in situ hybridization (FISH). The variability of the 8p23.1 orientation in 150 HapMap samples was predicted using this set of SNPs and was verified by FISH in a subset of samples. Four genes (NEIL2, MSRA, CTSB and BLK) were found differentially expressed (p<0.0005) according to the orientation of the 8p23.1 region. Finally, we have found variable levels of mosaicism for the orientation of the 8p23.1 as determined by FISH. Conclusion: By means of dense SNP genotyping of the region, haplotype-based computational analyses and FISH experiments we could infer and verify the orientation status of alleles in the 8p23.1 region by detecting two short haplotype stretches at both ends of the inverted region, which are likely the relic of the chromosome in which the original inversion occurred. Moreover, an impact of 8p23.1 inversion on gene expression levels cannot be ruled out, since four genes from this region have statistically significant different expression levels depending on the inversion status. FISH results in lymphoblastoid cell lines suggest the presence of mosaicism regarding the 8p23.1 inversion.
- dc.format.mimetype application/pdfca
- dc.identifier.citation Bosch N, Morell M, Ponsa I, Mercader JM, Armengol L, Estivill X. Nucleotide, Cytogenetic and Expression Impact of the Human Chromosome 8p23.1 Inversion Polymorphism. PLoS ONE. 2009;4(12):e8269. DOI: 10.1371/journal.pone.0008269ca
- dc.identifier.doi http://dx.doi.org/10.1371/journal.pone.0008269
- dc.identifier.issn 1932-6203ca
- dc.identifier.uri http://hdl.handle.net/10230/16437
- dc.language.iso engca
- dc.publisher Public Library of Science (PLoS)ca
- dc.relation.ispartof PLoS ONE. 2009;4(12):e8269
- dc.rights © 2009 Bosch et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.ca
- dc.rights.accessRights info:eu-repo/semantics/openAccess
- dc.rights.uri http://creativecommons.org/licenses/by/2.5/
- dc.subject.other Cromosomes humans
- dc.subject.other Genoma humà
- dc.subject.other Citogenètica
- dc.title Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphismca
- dc.type info:eu-repo/semantics/articleca
- dc.type.version info:eu-repo/semantics/publishedVersion