title: Allele-specific gene expression is widespread across the genome and biological processes.
abstract: Allelic specific gene expression (ASGE) appears to be an important factor in human phenotypic variability and as a consequence, for the development of complex traits and diseases. In order to study ASGE across the human genome, we have performed a study in which genotyping was coupled with an analysis of ASGE by screening 11,500 SNPs using the Mapping 10 K Array to identify differential allelic expression. We found that from the 5,133 SNPs that were suitable for analysis (heterozygous in our sample and expressed in peripheral blood mononuclear cells), 2,934 (57%) SNPs had differential allelic expression. Such SNPs were equally distributed along human chromosomes and biological processes. We validated the presence or absence of ASGE in 18 out 20 SNPs (90%) randomly selected by real time PCR in 48 human subjects. In addition, we observed that SNPs close to -but not included in- segmental duplications had increased levels of ASGE. Finally, we found that transcripts of unknown function or non-coding RNAs, also display ASGE: from a total of 2,308 intronic SNPs, 1510 (65%) SNPs underwent differential allelic expression. In summary, ASGE is a widespread mechanism in the human genome whose regulation seems to be far more complex than expected.
authors.affiliation: Neuroimmunology Laboratory, Center for Applied Medical Research, CIMA, University of Navarra, Pamplona, Spain.
authors.forename: Ricardo
authors.initials: R
authors.lastname: Palacios
authors.forename: Elodie
authors.initials: E
authors.lastname: Gazave
authors.forename: Joaquín
authors.initials: J
authors.lastname: Goñi
authors.forename: Gabriel
authors.initials: G
authors.lastname: Piedrafita
authors.forename: Olga
authors.initials: O
authors.lastname: Fernando
authors.forename: Arcadi
authors.initials: A
authors.lastname: Navarro
authors.forename: Pablo
authors.initials: P
authors.lastname: Villoslada
mesh_terms: D000483:Alleles; D001686:Biological Phenomena / Q000235:genetics; D002874:Chromosome Mapping; D005260:Female; D015870:Gene Expression; D015894:Genome, Human; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D022661:RNA, Untranslated / Q000378:metabolism
chemical_list: D022661:RNA, Untranslated