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Interchromosomal segmental duplications of the pericentromeric region on the human Y chromosome

¹ Institute of Human Genetics, University of Heidelberg, INF 366, 69120 Heidelberg, Germany , ² Genome Sequencing Center, Department of Genetics, Washington University School of Medicine, St. Louis, Missouri 63108, USA , ³ University of Washington, Genome Sciences, HSB K336B, Seattle, Washington 98195, USA , ⁴ Institute of Human Genetics, University of Freiburg, 79106 Freiburg, Germany , ⁵ University of Washington, Genome Sciences, HSB K357, Seattle, Washington 98195, USA

Basic medical research critically depends on the finished human genome sequence. Two types of gaps are known to exist in the human genome: those associated with heterochromatic sequences and those embedded within euchromatin. We identified and analyzed a euchromatic island within the pericentromeric repeats of the human Y chromosome. This 450-kb island, although not recalcitrant to subcloning and present in 100 tested males from different ethnic origins, was not detected and is not contained within the published Y chromosomal sequence. The entire 450-kb interval is almost completely duplicated and consists predominantly of interchromosomal rather than intrachromosomal duplication events that are usually prevalent on the Y chromosome. We defined the modular structure of this interval and detected a total of 128 underlying pairwise alignments (90% and 1 kb in length) to various autosomal pericentromeric and ancestral pericentromeric regions. We also analyzed the putative gene content of this region by a combination of in silico gene prediction and paralogy analysis. We can show that even in this exceptionally duplicated region of the Y chromosome, eight putative genes with open reading frames reside, including fusion transcripts formed by the splicing of exons from two different duplication modules as well as members of the homeobox gene family DUX.

⁶ Corresponding author.
E-mail gudrun_rappold{at}med.uni-heidelberg.de; fax 49 6221-565332.

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