Abstract:
:Gene expression variations (GEV) among different ethnic groups have been a subject matter for extensive study. Relatively less known is the extent of alternative splicing variations (ASV) in the context of ethnicity. We conducted a transcriptome sequencing study of 20 lymphoblastoid cell lines obtained from Caucasian and Han Chinese, and identified known genes that exhibit differential isoform abundance between the two ethnic groups. Among them hnRNPK, a co-factor of p53 (TP53), could be further replicated in a 39-sample cohort with TaqMan assay. Although within-population novel splice variants are common, inter-population novel splice variants are rare. We further analyzed 5.63 billion sequencing reads retrieved from the NCBI Sequence Read Archive and identified potential ethnic-specific transcribed regions.
journal_name
Genomicsjournal_title
Genomicsauthors
Li JW,Lai KP,Ching AK,Chan TFdoi
10.1016/j.ygeno.2013.12.005subject
Has Abstractpub_date
2014-01-01 00:00:00pages
56-64issue
1eissn
0888-7543issn
1089-8646pii
S0888-7543(13)00230-9journal_volume
103pub_type
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