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Human Molecular Genetics Advance Access published online on July 14, 2004
Human Molecular Genetics, doi:10.1093/hmg/ddh215
© 2004 by Oxford University Press
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Article

Differential expression of a novel ankyrin containing E3 ubiquitin-protein ligase, Hace1, in sporadic Wilms' tumour versus normal kidney

Michael S. Anglesio 1, Valentina Evdokimova 1, Nataliya Melnyk 1, Liyong Zhang 2, Conrad V. Fernandez 3, Paul E. Grundy 4, Stephen Leach 5, Marco A. Marra 5, Angela R. Brooks-Wilson 5, Josef Penninger 6, Poul H.B. Sorensen 1*

1 Departments of Pathology and Pediatrics, British Columbia Research Institute for Children's and Women's Health, and the University of British Columbia, Vancouver, BC, Canada V5Z4H4
2 Departments of Medical Biophysics and Immunology, University of Toronto, Toronto, Ontario, Canada
3 Department of Pediatrics, IWK Grace Health Centre, Halifax, Nova Scotia, Canada B3L3G9
4 Cross Cancer Institute, Edmonton AB, Canada T6G1Z2
5 Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC, Canada, V5Z4S6
6 Institute for Molecular Biotechnology of the Austrian Academy of Sciences, 1030 Vienna, Austria

* To whom correspondence should be addressed. E-mail: psor{at}interchange.ubc.ca.


  Abstract

We have analyzed the chromosome 6q21 breakpoint of a non-constitutional t(6;15)(q21;q21) rearrangement in sporadic Wilms' tumour. This identified a novel gene encoding a protein with six N-terminal ankyrin repeats linked to a C-terminal HECT ubiquitin-protein ligase domain. We therefore designated this gene HACE1, or HECT domain and Ankyrin repeat Containing E3 ubiquitin-protein ligase 1. HACE1 is widely expressed in human tissues, including mature and fetal kidney. We show that Hace1 protein possesses intrinsic ubiquitin ligase activity, utilizes UbcH7 as a candidate partner E2 enzyme, and localizes predominantly to the endoplasmic reticulum. Although the HACE1 locus was not directly interrupted by the translocation in the index Wilms' case, its expression was markedly lower in tumour tissue compared with adjacent normal kidney. Moreover, HACE1 expression was virtually undetectable in the SK-NEP-1 Wilms' tumour cell line and in four of five additional primary Wilms' tumour cases compared to patient-matched normal kidney. We found no evidence of HACE1 mutations or deletions, but hypermethylation of two upstream CpG islands correlates with low HACE1 expression in tumour samples. Our findings implicate Hace1 as a novel ubiquitin-protein ligase and demonstrate that its expression is very low in primary Wilms' tumours.


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