Mind the GAP, Rho, Rab and GDI

Antonarakis, S. E., Van Aelst, L. (June 1998) Mind the GAP, Rho, Rab and GDI. Nature Genetics, 19 (2). pp. 106-108. ISSN 1061-4036

URL: http://www.ncbi.nlm.nih.gov/pubmed/9620758
DOI: 10.1038/450

Abstract

Mental retardation is a common phenotype that is caused by defects in a large number of genes--the updated McKusick catalogue of genes and phenotypes (OMIM; http://www3.ncbi.nlm.nih.gov/omim) responds with 828 entries when queried with "mental retardation". Mapping the position of the corresponding loci, the first step towards cloning of the genes involved, is much easier on the X chromosome because of the 'males only'-affected pedigrees. This translates to an inflated number of OMIM entries that cite the X chromosome, which contains approximately 3% of the human gene complement1. Considerable effort has been invested in the systematic identification of X-linked loci that segregate with non-specific mental retardation (MRX; ref. 2). The MRX phenotype is frequent; it affects approximately 1 in 500 males. Linkage analyses of more than 60 well-characterized MRX families, however, implicate at least a dozen loci, and until now, only one of these, the FMR2 gene, has been cloned3.

Item Type: Paper
Uncontrolled Keywords: GENE
Subjects: bioinformatics > genomics and proteomics > genetics & nucleic acid processing > protein structure, function, modification
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > protein structure, function, modification > protein types > G protein > Rho
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > protein structure, function, modification > protein types > G protein
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > protein structure, function, modification > protein types
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > protein structure, function, modification > protein types > G protein > Rab
CSHL Authors:
Communities: CSHL labs > Van Aelst lab
Depositing User: Matt Covey
Date: June 1998
Date Deposited: 18 Dec 2013 21:32
Last Modified: 18 Dec 2013 21:32
Related URLs:
URI: http://repository.cshl.edu/id/eprint/29112

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