Journal
GENOME RESEARCH
Volume 18, Issue 1, Pages 77-87Publisher
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
DOI: 10.1101/gr.6859308
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Funding
- NCI NIH HHS [CA13106, P01 CA013106] Funding Source: Medline
- NATIONAL CANCER INSTITUTE [P01CA013106] Funding Source: NIH RePORTER
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Many human diseases, including Fanconi anemia, hemophilia B, neurofibromatosis, and phenylketollUria, call be caused by 5'-splice-site (5'ss) mutations that are not predicted to disrupt splicing, according to position weight matrices. By using comparative genomics, we identify pairwise dependencies between 5'ss nucleotides as a conserved feature of the entire set of 5'ss. These dependencies are also conserved in human-mouse pairs of orthologous 5'ss. Many disease-associated 5'ss mutations disrupt these dependencies, as call some human SNPs that appear to alter splicing. The consistency of the evidence signifies the relevance of this approach and Suggests that 5'ss SNPs play a role in complex diseases.
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