Heritability of alternative splicing in the human genome.

Heritability of alternative splicing in the human genome. Research Abstract Details 

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Heritability of alternative splicing in the human genome. Abstract Text:

Tony Kwan,David Benovoy,Christel Dias,Scott Gurd,David Serre,Harry Zuzan,Tyson A Clark,Anthony Schweitzer,Michelle K Staples,Hui Wang,John E Blume,Thomas J Hudson,Rob Sladek,Jacek Majewski,

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 genome-wide scale, we use a comprehensive exon-targeted microarray to examine alternative splicing in lymphoblastoid cell lines (LCLs) derived from the CEPH HapMap population. We show the identification of transcripts containing sequence verified exon skipping, intron retention, and cryptic splice site usage that are specific between individuals. A number of novel alternative splicing events with no previous annotations in either the RefSeq and EST databases were identified, indicating that we are able to discover de novo splicing events. Using family-based linkage analysis, we demonstrate Mendelian inheritance and segregation of specific splice isoforms with regulatory haplotypes for three genes: OAS1, CAST, and CRTAP. Allelic association was further used to identify individual SNPs or regulatory haplotype blocks linked to the alternative splicing event, taking advantage of the high-resolution genotype information from the CEPH HapMap population. In one candidate, we identified a regulatory polymorphism that disrupts a 5' splice site of an exon in the CAST gene, resulting in its exclusion in the mutant allele. This report illustrates that our approach can detect both annotated and novel alternatively spliced variants, and that such variation among individuals is heritable and genetically controlled.

Heritability of alternative splicing in the human genome. Publishing Authors By Initials

T Kwan,D Benovoy,C Dias,S Gurd,D Serre,H Zuzan,TA Clark,A Schweitzer,MK Staples,H Wang,JE Blume,TJ Hudson,R Sladek,J Majewski,

For similar investigative techniques: genetic techniques: sequence analysis: sequence analysis, dna research abstracts see: investigative techniques: genetic techniques: sequence analysis: sequence analysis, dna research

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Heritability of alternative splicing in the human genome. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Genome research

VOLUME: 17

Page Numbers: 1210-8

Journal Abbreviation: Genome Res.

ISSN: 1088-9051

DAY: 27

MONTH: Aug

YEAR: 2007

Heritability of alternative splicing in the human genome. Information

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LANGUAGE: eng

NlmUniqueID: 9518021

Heritability of alternative splicing in the human genome. Keywords Mesh Terms:

KEYWORDS: Sequence Analysis, DNA

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Grant and Affiliation Information for Heritability of alternative splicing in the human genome.

AFFILIATION: Department of Human Genetics, McGill University, Montréal, Québec, Canada.

Country: United States

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MEDLINETA: Genome Res

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