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Am J Translational Res 2011;3(3):234-242

Original Article
Configuration and rearrangement of the human GAGE gene clusters

Michael W. Killen, Tiffany L. Taylor, Dawn M. Stults, Weidong Jin, Lisa L. Wang, Jeffrey A. Moscow, Andrew J. Pierce

Department of Microbiology, Immunology and Molecular Genetics, University of Kentucky; Department of Biology,
University of Kentucky; Graduate Center for Toxicology, University of Kentucky; Department of Pediatrics, Section of
Hematology-Oncology, Baylor College of Medicine; Department of Pediatrics, Division of Hematology-Oncology,
Markey Cancer Center, University of Kentucky; Department of Microbiology, Immunology and Molecular Genetics,
Graduate Center for Toxicology, Markey Cancer Center, University of Kentucky, Lexington, KY, USA.

Received March 4, 2011; accepted May 5, 2011; Epub May 8, 2011; Published May 15, 2011

Abstract: The GAGE protein is detected only in cancer and in testis and is expressed from a cluster of nearly
identical gene copies on the X-chromosome. We determined the lengths of these GAGE gene clusters from
human families, identical twins, and in clinical samples from cancer patients. The GAGE cluster lengths proved to
be highly heterogeneous, ranging from 13 to 39 gene copies, with an average content of 20 GAGE genes per
cluster. Low levels of meiotic rearrangement in families and mitotic rearrangement in adult solid tumors are
detectable. Analysis of Rothmund-Thomson syndrome (RTS) kindreds and probands showed GAGE cluster
inheritance and stability indistinguishable from that found in non-RTS individuals. These observations support
the concept of evolutionarily rapid rearrangement of clustered repetitive sequences in the human genome.

Keywords: GAGE protein, human, gene clusters, configuration, rearrangement

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