University of Sussex
Browse

File(s) not publicly available

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-Walker
We 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

Gene

ISSN

0378-1119

Volume

318

Page range

169-175

Pages

7.0

Department affiliated with

  • Evolution, Behaviour and Environment Publications

Full text available

  • No

Peer reviewed?

  • Yes

Legacy Posted Date

2012-02-06

Usage metrics

    University of Sussex (Publications)

    Categories

    No categories selected

    Exports

    RefWorks
    BibTeX
    Ref. manager
    Endnote
    DataCite
    NLM
    DC