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
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: | https://repository.cshl.edu/id/eprint/29112 |
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