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Human disease genes: patterns and predictions
journal contribution
posted on 2023-06-08, 00:00 authored by Nick G C Smith, Adam Eyre-WalkerAdam Eyre-WalkerWe compared genes at which mutations are known to cause human disease (disease genes) with other human genes (nondisease genes) using a large set of human¿rodent alignments to infer evolutionary patterns. Such comparisons may be of use both in predicting disease genes and in understanding the general evolution of human genes. Four features were found to differ significantly between disease and nondisease genes, with disease genes (i) evolving with higher nonsynonymous/synonymous substitution rate ratios (Ka/Ks), (ii) evolving at higher synonymous substitution rates, (iii) with longer protein-coding sequences, and (iv) expressed in a narrower range of tissues. Discriminant analysis showed that these differences may help to predict human disease genes. We also investigated other factors affecting the mode of evolution in the disease genes: Ka/Ks is significantly affected by protein function, mode of inheritance, and the reduction of life expectancy caused by disease.
History
Publication status
- Published
Journal
GeneISSN
0378-1119External DOI
Volume
318Page range
169-175Pages
7.0Department affiliated with
- Evolution, Behaviour and Environment Publications
Full text available
- No
Peer reviewed?
- Yes
Legacy Posted Date
2012-02-06Usage metrics
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