The haplo-spliceo-transcriptome: common variations in alternative splicing in the human population.
Numerous inherited human genetic disorders are caused by defects in pre-mRNA splicing. Two recent studies have added a new twist to the link between genetic variation and pre-mRNA splicing by identifying SNPs that correlate with heritable changes in alternative splicing but do not cause disease. This suggests that allele-specific alternative splicing is a mechanism that accounts for individual variation in the human population.
Graveley
Brenton R
BR
Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington, CT 06030-3301, USA. graveley@neuron.uchc.edu
D017398:Alternative Splicing / Q000235:genetics*; D004194:Disease; D020869:Gene Expression Profiling; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans