title: Analysis of allelic differential expression in the human genome using allele-specific serial analysis of gene expression tags.
abstract: Recent reports have demonstrated that a significant proportion of human genes display allelic differential expression (ADE). ADE is associated with phenotypic variability and may contribute to complex genetic diseases. Here, we present a computational analysis of ADE using allele-specific serial analysis of gene expression (SAGE) tags representing 1295 human genes. We identified 472 genes for which unequal representation (>3-fold) of allele-specific SAGE tags was observed in at least one SAGE library, suggesting the occurrence of ADE. For 235 out of these 472 genes, the difference in the expression level between both allele-specific SAGE tags was statistically significant (p < 0.05). Eleven candidate genes were then subjected to experimental validation and ADE was confirmed for 8 out of these 11 genes. Our results suggest that at least 25% of the human genes display ADE and that allele-specific SAGE tags can be efficiently used for the identification of such genes.
authors.affiliation: Ludwig Institute for Cancer Research, São Paulo Branch, Rua João Julião, 245 - 1°Andar, 01323-903, São Paulo, SP, Brazil.
authors.forename: Daniel Onofre
authors.initials: DO
authors.lastname: Vidal
authors.forename: Jorge Estefano S
authors.initials: JE
authors.lastname: de Souza
authors.forename: Lilian Campos
authors.initials: LC
authors.lastname: Pires
authors.forename: Cibele
authors.initials: C
authors.lastname: Masotti
authors.forename: Anna Christina Matos
authors.initials: AC
authors.lastname: Salim
authors.forename: Maria Cristina Ferreira
authors.initials: MC
authors.lastname: Costa
authors.forename: Pedro Alexandre Favoretto
authors.initials: PA
authors.lastname: Galante
authors.forename: Sandro José
authors.initials: SJ
authors.lastname: de Souza
authors.forename: Anamaria Aranha
authors.initials: AA
authors.lastname: Camargo
mesh_terms: D000483:Alleles; D002874:Chromosome Mapping; D018076:DNA, Complementary / Q000235:genetics; D020224:Expressed Sequence Tags; D020869:Gene Expression Profiling; D015723:Gene Library; D008040:Genetic Linkage; D015894:Genome, Human; D005838:Genotype; D006801:Humans; D018895:Microsatellite Repeats; D012333:RNA, Messenger; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: D018076:DNA, Complementary; D012333:RNA, Messenger