A1 Refereed original research article in a scientific journal

Mutational analysis of SPANXGenes in families with X-linked prostate cancer




AuthorsKouprina N, Noskov VN, Solomon G, OtStot J, Isaacs W, Xu JF, Schleutker J, Larionov V

PublisherWILEY-LISS

Publication year2007

JournalProstate

Journal name in sourcePROSTATE

Journal acronymPROSTATE

Volume67

Issue8

First page 820

Last page828

Number of pages9

ISSN0270-4137

DOIhttps://doi.org/10.1002/pros.20561


Abstract
BACKGROUND. Previous genetic linkage studies identified a locus for susceptibility to prostate cancer called HPCX at Xq27. The candidate region contains two clusters of SPANX genes. The first cluster called SPANX-A/D includes SPANX-A1, SPANX-A2, SPANX-B, SPANX-C, and SPANX-D; the second cluster called SPANX-N includes SPANX-N1, SPANX-N2, SPANX-N3, and SPANX-N4. The SPANX genes encode cancer-testis (CT) specific antigens. Previous studies identified SPANX-B and SPANX-D variants produced by gene conversion events, none of which are associated with X-linked prostate cancer.METHODS. In this study we applied transformation-associated recombination cloning (TAR) in yeast to analyze sequence variations in SPANX-A1, SPANX-A2, and SPANX-C genes that are resided within large chromosomal duplications. A SPANX-N1/N4 cluster was analyzed by a routine PCR analysis.RESULTS. None of the sequence variations in the coding regions of these genes is associated with susceptibility to prostate cancer.CONCLUSIONS. Therefore, genetic variation in the SPANX genes is not the actual target variants explaining HPCX. However, it is possible that they play a modifying role in susceptibility to prostate cancer through complex recombinational interaction.



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