Origins of chromosomal rearrangement hotspots in the human genome evidence from the AZFa deletion hotspots 英文参考文献.docVIP

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Origins of chromosomal rearrangement hotspots in the human genome evidence from the AZFa deletion hotspots 英文参考文献.doc

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Origins of chromosomal rearrangement hotspots in the human genome evidence from the AZFa deletion hotspots 英文参考文献

Open Access Re rch V2004Hurlesetoal.lumesea5, Issue 8, Article R55 Origins of chromosomal rearrangement hotspots in the human genome: evidence from the AZFa deletion hotspots Matthew E Hurles*?, David Willey?, Lucy Matthews? and Syed Sufyan Hussain? Addresses: *Molecular Genetics Laboratory, McDonald Institute for Archaeological Research, University of Cambridge, Downing Street, Cambridge, CB2 3ER, UK. ?The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK. Correspondence: Matthew E Hurles. E-mail: meh@sanger.ac.uk Published: 14 July 2004 Received: 23 April 2004 Revised: 2 June 2004 Accepted: 7 June 2004 Genome Biology 2004, 5:R55 The electronic version of this article is the complete one and can be found online at /2004/5/8/R55 ? 2004 Hurles et al.; licensee BioMed Central Ltd. This is an Open Access article: verbatim copying and redistribution of this article are permitted in all media for any purpose, provided this notice is preserved along with the articles original URL. OriginshtiuolpimtyToa.hlno/egpofooernuchromosomaliosgmineescooamrfetbhpienoroetriclrearrangementoyonmuonbndinetharstetiooYnocdhh.orWothotspotssmepohstasovmteheianinttvhaethearsettilagihumaneactwoemidth,mbinoygenome:npcaofermatlpouagrreoaevidenceuotisfvsbeeosqtehuqeuanfromlelcneelcsiicnktheangn,odtwhAZFnneoetnovα-osadeletionlpluloetniloiscnohroodfmhotspotsetwlologouseotiohnstsrperecombinationostusltoinf gnoinn-malaleleliniicnthefer- Abstract Background: The origins of the recombination hotspots that are a common feature of both allelic and non-allelic homologous recombination in the human genome are poorly understood. We have investigated, by comparative sequencing, the evolution of two hotspots of non-allelic homologous recombination on the Y chromosome that lie within paralogous sequences known to sponsor deletions resulting in male infertility. Results: These recombination hotspots are characterized by signatures of