Genome-wide analysis of transcript isoform variation in humans Export

@article{kwan08, abstract = {We have performed a genome-wide analysis of common genetic variation controlling differential expression of transcript isoforms in the CEU HapMap population using a comprehensive exon tiling microarray covering 17,897 genes. We detected 324 genes with significant associations between flanking SNPs and transcript levels. Of these, 39\% reflected changes in whole gene expression and 55\% reflected transcript isoform changes such as splicing variants (exon skipping, alternative splice site use, intron retention), differential 5' UTR (initiation of transcription) use, and differential 3' UTR (alternative polyadenylation) use. These results demonstrate that the regulatory effects of genetic variation in a normal human population are far more complex than previously observed. This extra layer of molecular diversity may account for natural phenotypic variation and disease susceptibility.}, address = {[1] Department of Human Genetics, McGill University, 740 Dr. Penfield, Room 7210, Montr\'{e}al, Qu\'{e}bec H3A 1A4, Canada. [2] McGill University and G\'{e}nome Qu\'{e}bec Innovation Centre, 740 Dr. Penfield, Room 7210, Montr\'{e}al, Qu\'{e}bec H3A 1A4, Canada.}, author = {Kwan, Tony and Benovoy, David and Dias, Christel and Gurd, Scott and Provencher, Cathy and Beaulieu, Patrick and Hudson, Thomas J. and Sladek, Rob and Majewski, Jacek}, citeulike-article-id = {2304661}, citeulike-linkout-0 = {http://dx.doi.org/10.1038/ng.2007.57}, citeulike-linkout-1 = {http://dx.doi.org/10.1038/ng.2007.57}, citeulike-linkout-2 = {http://view.ncbi.nlm.nih.gov/pubmed/18193047}, citeulike-linkout-3 = {http://www.hubmed.org/display.cgi?uids=18193047}, day = {13}, doi = {10.1038/ng.2007.57}, issn = {1546-1718}, journal = {Nat Genet}, keywords = {affy, ceph, exonarray, splice, transcriptomic}, month = {February}, number = {2}, pages = {225--231}, posted-at = {2008-03-11 14:20:58}, priority = {2}, publisher = {Nature Publishing Group}, title = {Genome-wide analysis of transcript isoform variation in humans}, url = {http://dx.doi.org/10.1038/ng.2007.57}, volume = {40}, year = {2008} }

TY - JOUR ID - kwan08 L3 - citeulike-article-id:2304661 N2 - We have performed a genome-wide analysis of common genetic variation controlling differential expression of transcript isoforms in the CEU HapMap population using a comprehensive exon tiling microarray covering 17,897 genes. We detected 324 genes with significant associations between flanking SNPs and transcript levels. Of these, 39% reflected changes in whole gene expression and 55% reflected transcript isoform changes such as splicing variants (exon skipping, alternative splice site use, intron retention), differential 5' UTR (initiation of transcription) use, and differential 3' UTR (alternative polyadenylation) use. These results demonstrate that the regulatory effects of genetic variation in a normal human population are far more complex than previously observed. This extra layer of molecular diversity may account for natural phenotypic variation and disease susceptibility. IS - 2 JF - Nat Genet SN - 1546-1718 AD - [1] Department of Human Genetics, McGill University, 740 Dr. Penfield, Room 7210, Montréal, Québec H3A 1A4, Canada. [2] McGill University and Génome Québec Innovation Centre, 740 Dr. Penfield, Room 7210, Montréal, Québec H3A 1A4, Canada. EP - 231 TI - Genome-wide analysis of transcript isoform variation in humans PB - Nature Publishing Group VL - 40 SP - 225 KW - affy KW - ceph KW - exonarray KW - splice KW - transcriptomic AU - Kwan, Tony AU - Benovoy, David AU - Dias, Christel AU - Gurd, Scott AU - Provencher, Cathy AU - Beaulieu, Patrick AU - Hudson, Thomas AU - Sladek, Rob AU - Majewski, Jacek PY - 2008/02/13/ UR - http://dx.doi.org/10.1038/ng.2007.57 ER -