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Role for the Wilms tumor gene in genital development?

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.

journal_name

Proc Natl Acad Sci U S A

journal_title

Proceedings of the National Academy of Sciences of the United States of America

authors

van Heyningen V,Bickmore WA,Seawright A,Fletcher JM,Maule J,Fekete G,Gessler M,Bruns GA,Huerre-Jeanpierre C,Junien C

doi

10.1073/pnas.87.14.5383

subject

Has Abstract,Author List Incomplete

pub_date

1990-07-01 00:00:00

pages

5383-6

issue

14

eissn

0027-8424

issn

1091-6490

journal_volume

87

pub_type

杂志文章

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