ArticleProceedings of the National Academy of Sciences of the United States of America1997
Positionally cloned human disease genes: patterns of evolutionary conservation and functional motifs.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers.
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74 citing papers in PubMed, 235 citations in OpenAlex.
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- Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.Cerebellum (London, England) · 2014Article
- Identifying potential cancer driver genes by genomic data integration.Scientific reports · 2013Article
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- Protein-protein interactions as a strategy towards protein-specific drug design: the example of ataxin-1.PloS one · 2013Article
- Human monogenic disease genes have frequently functionally redundant paralogs.PLoS computational biology · 2013Article
- The Werner syndrome exonuclease facilitates DNA degradation and high fidelity DNA polymerization by human DNA polymerase δ.The Journal of biological chemistry · 2012Article
- RecQ helicases; at the crossroad of genome replication, repair, and recombination.Molecular biology reports · 2012Review
- PMS1 from Arabidopsis thaliana: optimization of protein overexpression in Escherichia coli.Molecular biology reports · 2011Article
- Identification of potential drug targets implicated in Parkinson's disease from human genome: insights of using fused domains in hypothetical proteins as probes.ISRN neurology · 2011Article
- A survey of yeast genomic assays for drug and target discovery.Pharmacology & therapeutics · 2010Review
- Nuclear ataxias.Cold Spring Harbor perspectives in biology · 2010Review
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14 more citing papers are in PubMed but not listed here.
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Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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 the majority of the disease genes. In yeast and bacterial homologs, domain organization is typically not conserved, and sequence similarity is limited to individual domains. Generally, human genes complement mutations only in orthologous yeast genes. Most of the positionally cloned genes encode large proteins with several globular and nonglobular domains, the functions of some or all of which are not known. We detected conserved domains and motifs not described previously in a number of proteins encoded by disease genes and predicted functions for some of them. These predictions include an ATP-binding domain in the product of hereditary nonpolyposis colon cancer gene (a MutL homolog), which is conserved in the HS90 family of chaperone proteins, type II DNA topoisomerases, and histidine kinases, and a nuclease domain homologous to bacterial RNase D and the 3'-5' exonuclease domain of DNA polymerase I in the Werner syndrome gene product.
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