Role for the Wilms tumor gene in genital development?

V. Van Heyningen, W. A. Bickmore, A. Seawright, J. M. Fletcher, J. Maule, G. Fekete, M. Gessler, G. A P Bruns, C. Huerre-Jeanpierre, C. Junien, B. R G Williams, N. D. Hastie

Research output: Article

76 Citations (Scopus)

Abstract

Detailed molecular definition of the WAGR region at chromosome 11p13 has been achieved by chromosome breakpoint analysis and long-range restriction mapping. Here we 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 us 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. (.

Original languageEnglish
Pages (from-to)5383-5386
Number of pages4
JournalProceedings of the National Academy of Sciences of the United States of America
Volume87
Issue number14
Publication statusPublished - 1990

Fingerprint

Wilms' Tumor Genes
Wilms Tumor
Aniridia
Chromosome Breakpoints
Kidney
Hypospadias
Restriction Mapping
Cryptorchidism
Gonads
Neoplasms
Chromosomes
Mutation
Genes

ASJC Scopus subject areas

  • Genetics
  • General

Cite this

Van Heyningen, V., Bickmore, W. A., Seawright, A., Fletcher, J. M., Maule, J., Fekete, G., ... Hastie, N. D. (1990). Role for the Wilms tumor gene in genital development? Proceedings of the National Academy of Sciences of the United States of America, 87(14), 5383-5386.

Role for the Wilms tumor gene in genital development? / Van Heyningen, V.; Bickmore, W. A.; Seawright, A.; Fletcher, J. M.; Maule, J.; Fekete, G.; Gessler, M.; Bruns, G. A P; Huerre-Jeanpierre, C.; Junien, C.; Williams, B. R G; Hastie, N. D.

In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 87, No. 14, 1990, p. 5383-5386.

Research output: Article

Van Heyningen, V, Bickmore, WA, Seawright, A, Fletcher, JM, Maule, J, Fekete, G, Gessler, M, Bruns, GAP, Huerre-Jeanpierre, C, Junien, C, Williams, BRG & Hastie, ND 1990, 'Role for the Wilms tumor gene in genital development?', Proceedings of the National Academy of Sciences of the United States of America, vol. 87, no. 14, pp. 5383-5386.
Van Heyningen V, Bickmore WA, Seawright A, Fletcher JM, Maule J, Fekete G et al. Role for the Wilms tumor gene in genital development? Proceedings of the National Academy of Sciences of the United States of America. 1990;87(14):5383-5386.
Van Heyningen, V. ; Bickmore, W. A. ; Seawright, A. ; Fletcher, J. M. ; Maule, J. ; Fekete, G. ; Gessler, M. ; Bruns, G. A P ; Huerre-Jeanpierre, C. ; Junien, C. ; Williams, B. R G ; Hastie, N. D. / Role for the Wilms tumor gene in genital development?. In: Proceedings of the National Academy of Sciences of the United States of America. 1990 ; Vol. 87, No. 14. pp. 5383-5386.
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