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Homozygous intragenic deletion in the WT1 gene in a sporadic Wilms' tumour associated with high levels of expression of a truncated transcript
Author(s) -
Algar Elizabeth M.,
Kenney Mark T.,
Simms Lisa A.,
Smith Shirley I.,
Kida Yoshiki,
Smith Peter J.
Publication year - 1995
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380050306
Subject(s) - biology , wilms' tumor , exon , zinc finger , gene , genetics , untranslated region , microbiology and biotechnology , tumor suppressor gene , chromosome , allele , messenger rna , carcinogenesis , transcription factor
We have examined a panel of 21 sporadic Wilms' tumours for rearrangements in the Wilms' tumour suppressor gene, WT1. In one tumour with specific allele loss in chromosome 11pl3, a homozygous deletion in the 3′ end of the gene, encompassing exon 10 and the 3′ untranslated region, was identified. High levels of a truncated WT1 transcript, predicted to encode a polypeptide missing the fourth zinc finger were expressed in this tumour. All other samples showed normal patterns of digestion on Southern Hots. This observation confirms previous findings that large deletions in the gene occur infrequently in sporadic Wilms' tumours and that the zinc‐finger region of the encoded polypeptide is critical for correct functioning of the gene.© 1995 wiley‐Liss, Inc.