Heritability of alternative splicing in the human genome

ABSTRACT: Alternative pre-mRNA splicing increases proteomic diversity and provides a potential mechanism underlying both phenotypic diversity and susceptibility to genetic disorders in human populations. To investigate the variation in splicing among humans on a genomewide scale, we use a comprehensive exon-targeted microarray to examine alternative splicing in lymphoblasts derived from the CEPH HapMap population. We show the identification of transcripts containing annotated and novel sequence verified exon skipping, intron retention, and cryptic splice site usage that are specific between individuals. Using family-based linkage analysis, we demonstrate Mendelian inheritance and segregation of specific splice isoforms with regulatory haplotypes for three genes. Allelic association was further used

ORGANISM(S): Homo sapiens

SUBMITTER: Tony Kwan 

PROVIDER: E-GEOD-7952 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress