NDLI: Positionally cloned human disease genes: Patterns of evolutionary conservation and functional motifs

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

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

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Boguski, M. S. Koonin, E. V. Bork, P. Mushegian, A. R. Bassett, D. E.
Description	Author Affiliation: Mushegian AR ( National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20894, USA.);
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.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	11
Volume Number	94
Language	English
Publisher	National Academy of Sciences
Publisher Date	1997-06-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Biological Evolution Cloning, Molecular Genetic Diseases, Inborn Genetics Amino Acid Sequence Animals Bacteria Colorectal Neoplasms, Hereditary Nonpolyposis Conserved Sequence DNA Polymerase I Chemistry DNA Topoisomerases, Type II HSP90 Heat-Shock Proteins Information Systems Molecular Sequence Data Mutation Nematoda Protein Biosynthesis Protein Kinases Proteins Saccharomyces Cerevisiae Sequence Homology, Amino Acid Comparative Study Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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