An internal deletion within an 11p13 zinc finger gene contributes to the development of Wilms' tumor

Daniel A. Haber, Alan J. Buckler, Thomas M Glaser, Katherine M. Call, Jerry Pelletier, Robert L. Sohn, Edwin C. Douglass, David E. Housman

Research output: Contribution to journalArticle

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Abstract

We have recently described the isolation of a candidate for the Wilms' tumor susceptibility gene mapping to band p13 of human chromosome 11. This gene, primarily expressed in fetal kidney, appears to encode a DNA binding protein. We now describe a sporadic, unilateral Wilms' tumor in which one allele of this gene contains a 25 bp deletion spanning an exon-intron junction and leading to aberrant mRNA splicing and loss of one of the four zinc finger consensus domains in the protein. The mutation is absent in the affected individual's germline, consistent with the somatic inactivation of a tumor suppressor gene. In addition to this intragenic deletion affecting one allele, loss of heterozygosity at loci along the entire chromosome 11 points to an earlier chromosomal nondisjunction and reduplication. We conclude that inactivation of this gene, which we call WT1, is part of a series of events leading to the development of Wilms' tumor.

Original languageEnglish (US)
Pages (from-to)1257-1269
Number of pages13
JournalCell
Volume61
Issue number7
DOIs
StatePublished - Jun 29 1990
Externally publishedYes

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Chromosomes, Human, Pair 11
Wilms Tumor
Zinc Fingers
Zinc
Tumors
Genes
Alleles
Wilms' Tumor Genes
Loss of Heterozygosity
Chromosome Mapping
DNA-Binding Proteins
Human Chromosomes
Gene Silencing
Tumor Suppressor Genes
Introns
Exons
Chromosomes
Kidney
Messenger RNA
Mutation

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology

Cite this

Haber, D. A., Buckler, A. J., Glaser, T. M., Call, K. M., Pelletier, J., Sohn, R. L., ... Housman, D. E. (1990). An internal deletion within an 11p13 zinc finger gene contributes to the development of Wilms' tumor. Cell, 61(7), 1257-1269. https://doi.org/10.1016/0092-8674(90)90690-G

An internal deletion within an 11p13 zinc finger gene contributes to the development of Wilms' tumor. / Haber, Daniel A.; Buckler, Alan J.; Glaser, Thomas M; Call, Katherine M.; Pelletier, Jerry; Sohn, Robert L.; Douglass, Edwin C.; Housman, David E.

In: Cell, Vol. 61, No. 7, 29.06.1990, p. 1257-1269.

Research output: Contribution to journalArticle

Haber, DA, Buckler, AJ, Glaser, TM, Call, KM, Pelletier, J, Sohn, RL, Douglass, EC & Housman, DE 1990, 'An internal deletion within an 11p13 zinc finger gene contributes to the development of Wilms' tumor', Cell, vol. 61, no. 7, pp. 1257-1269. https://doi.org/10.1016/0092-8674(90)90690-G
Haber, Daniel A. ; Buckler, Alan J. ; Glaser, Thomas M ; Call, Katherine M. ; Pelletier, Jerry ; Sohn, Robert L. ; Douglass, Edwin C. ; Housman, David E. / An internal deletion within an 11p13 zinc finger gene contributes to the development of Wilms' tumor. In: Cell. 1990 ; Vol. 61, No. 7. pp. 1257-1269.
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