Positionally cloned human disease genes: patterns of evolutionary conservation and functional motifs.

ABSTRACT: Positional cloning has already produced the sequences of more than 70 human genes associated with specific diseases. In addition to their medical importance, these genes are of interest as a set of human genes isolated solely on the basis of the phenotypic effect of the respective mutations. We analyzed the protein sequences encoded by the positionally cloned disease genes using an iterative strategy combining several sensitive computer methods. Comparisons to complete sequence databases and to separate databases of nematode, yeast, and bacterial proteins showed that for most of the disease gene products, statistically significant sequence similarities are detectable in each of the model organisms. Only the nematode genome encodes apparent orthologs with conserved domain architecture for t

SUBMITTER: Mushegian AR 

PROVIDER: S-EPMC20866 | biostudies-literature | 1997 May

REPOSITORIES: biostudies-literature