Life
Sciences Division
Oak Ridge National Laboratory
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A novel gene in the mouse p region, expressed exclusively in the central nervous system, maps to a human chromosomal region associated with mental retardation (June 1998) One of the Oak Ridge radiation-induced chromosomal deletions, p8FDFoD, at the pink-eyed dilution (p) locus in mouse chromosome 7, disrupts a gene expressed only in the brain and spinal cord. This gene, named Ihw (included in the human WAGR region) encodes two transcripts that we have cloned and sequenced; the DNA sequences show no similarity to other known genes.WAGR is a human clinical syndrome, consisting of Wilms' tumor (a lethal kidney cancer), aniridia (absence of the iris of the eye), genito-urinary abnormalities, and mental retardation, caused by the deletion of a group of genes in human chromosome 15. The W, A, and G components map as a group to mouse chromosome 2, but the gene grouping has been separated in the mouse so that the R component is in the p region on mouse chromosome 7. Ihw is one of a small cluster of brain-specific genes that may determine the mental retardation in WAGR patients. Researchers in the Life Sciences Division Mammalian Genetics and Development Section have engineered a transgenic knockout of the Ihw gene, and are breeding mice that will have both copies of Ihw disabled. Those mice will go through our behavior-testing center to determine if the absence of the Ihw gene product causes abnormalites in mice that may mimic the mental retardation associated with WAGR in humans. Contact: D. K. Johnson, 574-0953 or k29@ornl.gov Funding Source: DOE-OBER |
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