Iouri Chepelev,
Gang Wei, Qingsong Tang and
Keji Zhao
Laboratory
of Molecular Immunology, National Heart Lung and Blood Institute, National Institutes
of Health,
Bethesda 20894, USA
Abstract
Whole genome re-sequencing 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.
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