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Nat Genet

Title:		Mouse segmental duplication and copy number variation
Author(s):		She X; Cheng Z; Zollner S; Church DM; Eichler EE;
Address:		"Department of Genome Sciences, University of Washington, 1705 NE Pacific Street, Seattle, Washington 98195, USA"
Journal Title:		Nat Genet
Year:		2008
Volume:		20080522
Issue:		7
Page Number:		909 - 914
DOI:		10.1038/ng.172
ISSN/ISBN:		1546-1718 (Electronic) 1061-4036 (Print) 1061-4036 (Linking)
Abstract:		"Detailed analyses of the clone-based genome assembly reveal that the recent duplication content of mouse (4.94%) is now comparable to that of human (5.5%), in contrast to previous estimates from the whole-genome shotgun sequence assembly. However, the architecture of mouse and human genomes differs markedly: most mouse duplications are organized into discrete clusters of tandem duplications that show depletion of genes and transcripts and enrichment of long interspersed nuclear element (LINE) and long terminal repeat (LTR) retroposons. We assessed copy number variation of the C57BL/6J duplicated regions within 15 mouse strains previously used for genetic association studies, sequencing and the Mouse Phenome Project. We determined that over 60% of these base pairs are polymorphic among the strains (on average, there was 20 Mb of copy-number-variable DNA between different mouse strains). Our data suggest that different mouse strains show comparable, if not greater, copy number polymorphism when compared to human; however, such variation is more locally restricted. We show large and complex patterns of interstrain copy number variation restricted to large gene families associated with spermatogenesis, pregnancy, viviparity, pheromone signaling and immune response"
Keywords:		"Animals Animals, Newborn *Gene Dosage *Gene Duplication Gene Expression Profiling *Genetic Variation Genome Long Interspersed Nucleotide Elements/genetics Male Mice Mice, Inbred C57BL Mice, Inbred Strains/*genetics Oligonucleotide Array Sequence Analysis;"
Notes:		"MedlineShe, Xinwei Cheng, Ze Zollner, Sebastian Church, Deanna M Eichler, Evan E eng HHMI/Howard Hughes Medical Institute/ R01 HG002385/HG/NHGRI NIH HHS/ R01 HG002385-07/HG/NHGRI NIH HHS/ HG002385/HG/NHGRI NIH HHS/ Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't 2008/05/27 Nat Genet. 2008 Jul; 40(7):909-14. doi: 10.1038/ng.172. Epub 2008 May 22"