Role for the Wilms tumor gene in genital development
- Western General Hospital, Edinburgh (England)
- Semmelweis Univ. Medical School, Budapest (Hungary)
- Harvard Medical School, Boston, MA (USA)
- Institut National de la Sante et de la Recherche Medicale, Paris (France)
- Univ. of Toronto, Ontario (Canada)
Detailed molecular definition of the WAGR region at chromosome 11p13 has been achieved by chromosome breakpoint analysis and long-range restriction mapping. Here the authors describe the molecular detection of a cytogenetically invisible 1-megabase deletion in an individual with aniridia, cryptorchidism, and hypospadias but no Wilms tumor (WT). The region of overlap between this deletion and one associated with WT and similar genital anomalies but no aniridia covers a region of 350-400 kilobases, which is coincident with the extent of homozygous deletion detected in tumor tissue from a sporadic WT. A candidate WT gene located within this region has recently been isolated, suggesting nonpenetrance for tumor expression in the first individual. The inclusion within the overlap region of a gene for WT predisposition and a gene for the best-documented WT-associated genitourinary malformations leads to suggest that both of these anomalies result from a loss-of-function mutation at the same locus. This in turn implies that the WT gene exerts pleiotropic effect on both kidney and genitourinary development, a possibility supported by the observed expression pattern of the WT candidate gene in developing kidney and gonads.
- OSTI ID:
- 6249802
- Journal Information:
- Proceedings of the National Academy of Sciences of the United States of America; (USA), Vol. 87:14; ISSN 0027-8424
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
GENE MUTATIONS
DNA SEQUENCING
GONADS
ONTOGENESIS
HETEROCHROMOSOMES
GENETIC MAPPING
DNA HYBRIDIZATION
DNA-CLONING
ELECTROPHORESIS
KIDNEYS
NEOPLASMS
BODY
CHROMOSOMES
CLONING
DISEASES
HYBRIDIZATION
MAPPING
MUTATIONS
ORGANS
STRUCTURAL CHEMICAL ANALYSIS
550201* - Biochemistry- Tracer Techniques