title: Detection of single nucleotide variations in expressed exons of the human genome using RNA-Seq.
abstract: Whole-genome resequencing is still a costly method to detect genetic mutations that lead to altered forms of proteins and may be associated with disease development. Since the majority of disease-related single nucleotide variations (SNVs) are found in protein-coding regions, we propose to identify SNVs in expressed exons of the human genome using the recently developed RNA-Seq technique. We identify 12 176 and 10 621 SNVs, respectively, in Jurkat T cells and CD4(+) T cells from a healthy donor. Interestingly, our data show that one copy of the TAL-1 proto-oncogene has a point mutation in 3' UTR and only the mutant allele is expressed in Jurkat cells. We provide a comprehensive dataset for further understanding the cancer biology of Jurkat cells. Our results indicate that this is a cost-effective and efficient strategy to systematically identify SNVs in the expressed regions of the human genome.
authors.affiliation: Laboratory of Molecular Immunology, National Heart, Lung and Blood Institute, NIH, Bethesda, MD 20892, USA.
authors.forename: Iouri
authors.initials: I
authors.lastname: Chepelev
authors.forename: Gang
authors.initials: G
authors.lastname: Wei
authors.forename: Qingsong
authors.initials: Q
authors.lastname: Tang
authors.forename: Keji
authors.initials: K
authors.lastname: Zhao
mesh_terms: D018076:DNA, Complementary / Q000737:chemistry; D005091:Exons; D015870:Gene Expression; D015894:Genome, Human; D006801:Humans; D019169:Jurkat Cells; D017354:Point Mutation; D000090063:Proto-Oncogene Mas; D017423:Sequence Analysis, RNA
chemical_list: D018076:DNA, Complementary; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas