Abstract
WILMS' tumour (WT), aniridia, genitourinary abnormalities and mental retardation form a symptom group (WAGR syndrome) associated with hemizygous deletions of DNA in chromosome band 11p13 (refs 1,2). However, it has not been clear whether hemizygosity at a single locus contributes to more than one phenotype. The tumour suppressor gene for Wilms' tumour, WT1, has been characterized3,4: it is expressed at high levels in the glomeruli of the kidney5, as well as the gonadal ridge of the developing gonad5, the Sertoli cells of the testis6 and the epithelial and granulosa cells of the ovary6, suggesting a developmental role in the genital system in addition to the kidney. We now report constitutional mutations within the WT1 genes of two individuals with a combination of WT and genital abnormalities as evidence of a role for a recessive oncogene in mammalian development.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 431-434 |
| Number of pages | 4 |
| Journal | Nature |
| Volume | 353 |
| Issue number | 6343 |
| State | Published - Oct 3 1991 |
| Externally published | Yes |
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Cite this
WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour. / Pelletier, Jerry; Bruening, Wendy; Li, Frederick P.; Haber, Daniel A.; Glaser, Thomas M; Housman, David E.
In: Nature, Vol. 353, No. 6343, 03.10.1991, p. 431-434.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour
AU - Pelletier, Jerry
AU - Bruening, Wendy
AU - Li, Frederick P.
AU - Haber, Daniel A.
AU - Glaser, Thomas M
AU - Housman, David E.
PY - 1991/10/3
Y1 - 1991/10/3
N2 - WILMS' tumour (WT), aniridia, genitourinary abnormalities and mental retardation form a symptom group (WAGR syndrome) associated with hemizygous deletions of DNA in chromosome band 11p13 (refs 1,2). However, it has not been clear whether hemizygosity at a single locus contributes to more than one phenotype. The tumour suppressor gene for Wilms' tumour, WT1, has been characterized3,4: it is expressed at high levels in the glomeruli of the kidney5, as well as the gonadal ridge of the developing gonad5, the Sertoli cells of the testis6 and the epithelial and granulosa cells of the ovary6, suggesting a developmental role in the genital system in addition to the kidney. We now report constitutional mutations within the WT1 genes of two individuals with a combination of WT and genital abnormalities as evidence of a role for a recessive oncogene in mammalian development.
AB - WILMS' tumour (WT), aniridia, genitourinary abnormalities and mental retardation form a symptom group (WAGR syndrome) associated with hemizygous deletions of DNA in chromosome band 11p13 (refs 1,2). However, it has not been clear whether hemizygosity at a single locus contributes to more than one phenotype. The tumour suppressor gene for Wilms' tumour, WT1, has been characterized3,4: it is expressed at high levels in the glomeruli of the kidney5, as well as the gonadal ridge of the developing gonad5, the Sertoli cells of the testis6 and the epithelial and granulosa cells of the ovary6, suggesting a developmental role in the genital system in addition to the kidney. We now report constitutional mutations within the WT1 genes of two individuals with a combination of WT and genital abnormalities as evidence of a role for a recessive oncogene in mammalian development.
UR - http://www.scopus.com/inward/record.url?scp=0025788974&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0025788974&partnerID=8YFLogxK
M3 - Article
C2 - 1654525
AN - SCOPUS:0025788974
VL - 353
SP - 431
EP - 434
JO - Nature
JF - Nature
SN - 0028-0836
IS - 6343
ER -