<I>WT1 </I>identified as a gene repeatedly disrupted in Wilms' tumour, a common paediatric renal malignancy. This study is one of many which sought to confirm and understand some of the roles of <I>WT1 </I>in both normal development and tumorigenesis. Mutation analysis of <I>WT1 </I>in samples from patients with sporadic, bilateral and syndrome-associated Wilms' tumour has produced a pattern of results consistent with the findings of other groups. No mutations were detected in the sporadic and bilateral tumours, however exonic point mutations were detected in 7 out of 9 syndrome-associated Wilms' tumour samples that were analysed in detail. Studies examining parental <I>WT1 </I>status, genomic imprinting and allele loss distal to the <I>WT1 </I>locus are detailed for the syndrome-associated Wilms' tumour samples. <I>p16</I> was identified not only as a cell cycle regulator, but also as a gene repeatedly deleted in tumour cell lines. Previous studies showed that tumours of various types, including primary malignant mesothelioma, often contain deletions spanning the <I>p16</I> locus. In this study detailed deletion analysis is presented for <I>p16</I> and the adjacent related gene, <I>p15, </I>in Wilms' tumour and malignant mesothelioma samples. Both primary tumours and tumour cell lines were analysed. Deletions of <I>p16</I> were not detected in Wilms' tumour and derived tumour cell lines. Deletions of <I>p16</I> were however detected in all malignant mesothelioma cell lines analysed, and in the majority of these (14 out of 15) the deletions extended to the <I>p15</I> locus. Analysis of <I>p16 </I>and <I>p15 </I>in primary malignant mesothelioma samples did not identify deletions of either gene. The contribution, resulting effects and complementary nature of <I>WT1 </I>and <I>p16 </I>mutations in Wilms' tumour and malignant mesothelioma is discussed.
| Identifer | oai:union.ndltd.org:bl.uk/oai:ethos.bl.uk:663854 |
| Date | January 1995 |
| Creators | Williamson, K. A. |
| Publisher | University of Edinburgh |
| Source Sets | Ethos UK |
| Detected Language | English |
| Type | Electronic Thesis or Dissertation |
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