Journal
TRENDS IN GENETICS
Volume 24, Issue 1, Pages 5-7Publisher
ELSEVIER SCIENCE LONDON
DOI: 10.1016/j.tig.2007.10.004
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Funding
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [U01HG004271] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [R01GM067842, R01GM062516] Funding Source: NIH RePORTER
- NHGRI NIH HHS [U01 HG004271, HG004271] Funding Source: Medline
- NIGMS NIH HHS [R01 GM067842, GM067842, GM062516, R01 GM062516, R01 GM062516-07, R01 GM067842-06] Funding Source: Medline
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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.
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