A candidate prostate cancer susceptibility gene at chromosome 17p View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2001-02

AUTHORS

Sean V. Tavtigian, Jacques Simard, David H.F. Teng, Vicki Abtin, Michelle Baumgard, Audrey Beck, Nicola J. Camp, Arlene R. Carillo, Yang Chen, Priya Dayananth, Marc Desrochers, Martine Dumont, James M. Farnham, David Frank, Cheryl Frye, Siavash Ghaffari, Jamila S. Gupte, Rong Hu, Diana Iliev, Teresa Janecki, Edward N. Kort, Kirsten E. Laity, Amber Leavitt, Gilles Leblanc, Jodi McArthur-Morrison, Amy Pederson, Brandon Penn, Kelly T. Peterson, Julia E. Reid, Sam Richards, Marianne Schroeder, Richard Smith, Sarah C. Snyder, Brad Swedlund, Jeff Swensen, Alun Thomas, Martine Tranchant, Ann-Marie Woodland, Fernand Labrie, Mark H. Skolnick, Susan Neuhausen, Johanna Rommens, Lisa A. Cannon-Albright

ABSTRACT

It is difficult to identify genes that predispose to prostate cancer due to late age at diagnosis, presence of phenocopies within high-risk pedigrees and genetic complexity. A genome-wide scan of large, high-risk pedigrees from Utah has provided evidence for linkage to a locus on chromosome 17p. We carried out positional cloning and mutation screening within the refined interval, identifying a gene, ELAC2, harboring mutations (including a frameshift and a nonconservative missense change) that segregate with prostate cancer in two pedigrees. In addition, two common missense variants in the gene are associated with the occurrence of prostate cancer. ELAC2 is a member of an uncharacterized gene family predicted to encode a metal-dependent hydrolase domain that is conserved among eukaryotes, archaebacteria and eubacteria. The gene product bears amino acid sequence similarity to two better understood protein families, namely the PSO2 (SNM1) DNA interstrand crosslink repair proteins and the 73-kD subunit of mRNA 3' end cleavage and polyadenylation specificity factor (CPSF73). More... »

PAGES

172

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/84808

DOI

http://dx.doi.org/10.1038/84808

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1017867847

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11175785


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