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Identification of common genetic variants that account for transcript isoform variation between human populations.

Zhang W, Duan S, Bleibel WK, Wisel SA, Huang RS, Wu X, He L, Clark TA, Chen TX, Schweitzer AC, Blume JE, Dolan ME, Cox NJ
Hum Genet. 2009 125 (1): 81-93

PMID: 19052777 · PMCID: PMC2665168 · DOI:10.1007/s00439-008-0601-x

In addition to the differences between populations in transcriptional and translational regulation of genes, alternative pre-mRNA splicing (AS) is also likely to play an important role in regulating gene expression and generating variation in mRNA and protein isoforms. Recently, the genetic contribution to transcript isoform variation has been reported in individuals of recent European descent. We report here results of an investigation of the differences in AS patterns between human populations. AS patterns in 176 HapMap lymphoblastoid cell lines derived from individuals of European and African ancestry were evaluated using the Affymetrix GeneChip Human Exon 1.0 ST Array. A variety of biological processes such as response to stimulus and transcription were found to be enriched among the differentially spliced genes. The differentially spliced genes also include some involved in human diseases that have different prevalence or susceptibility between populations. The genetic contribution to the population differences in transcript isoform variation was then evaluated by a genome-wide association using the HapMap genotypic data on single nucleotide polymorphisms (SNPs). The results suggest that local and distant genetic variants account for a substantial fraction of the observed transcript isoform variation between human populations. Our findings provide new insights into the complexity of the human genome as well as the health disparities between the two populations.

MeSH Terms (10)

African Continental Ancestry Group Alternative Splicing Cluster Analysis European Continental Ancestry Group Genetics, Population Genome, Human Humans Oligonucleotide Array Sequence Analysis Polymorphism, Single Nucleotide Protein Isoforms

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