RT Journal
A1 Lo, H. Shuen
A1 Wang, Zhining
A1 Hu, Ying
A1 Yang, Howard H.
A1 Gere, Sheryl
A1 Buetow, Kenneth H.
A1 Lee, Maxwell P.
T1 Allelic Variation in Gene Expression Is Common in the Human Genome
JF Genome Research 
JO Genome Research 
YR 2003 
FD August 01 
VO 13 
IS 8 
SP 1855 
OP 1862 
DO 10.1101/gr.1006603 
UL http://genome.cshlp.org/content/13/8/1855.abstract 
AB Variations in gene sequence and expression underlie much of human  variability. Despite the known biological roles of differential allelic gene  expression resulting from X-chromosome inactivation and genomic imprinting, a  large-scale analysis of allelic gene expression in human is lacking. We  examined allele-specific gene expression of 1063 transcribed single-nucleotide  polymorphisms (SNPs) by using Affymetrix HuSNP oligo arrays. Among the 602  genes that were heterozygous and expressed in kidney or liver tissues from  seven individuals, 326 (54%) showed preferential expression of one allele in  at least one individual, and 170 of those showed greater than fourfold  difference between the two alleles. The allelic variation has been confirmed  by real-time quantitative PCR experiments. Some of these 170 genes are known  to be imprinted, such as SNRPN, IPW, HTR2A, and PEG3. Most  of the differentially expressed genes are not in known imprinting domains but  instead are distributed throughout the genome. Our studies demonstrate that  variation of gene expression between alleles is common, and this variation may  contribute to human variability.