Alu Recombination-Mediated Structural Deletions in the Chimpanzee Genome 英文参考文献.docVIP

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Alu Recombination-Mediated Structural Deletions in the Chimpanzee Genome 英文参考文献.doc

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Alu Recombination-Mediated Structural Deletions in the Chimpanzee Genome 英文参考文献

AluRecombination-MediatedStructural DeletionsintheChimpanzeeGenome Kyudong Han1,2,3[,Jungnam Lee1,2,3[,Thomas J.Meyer1,2,3,Jianxin Wang4,Shurjo K.Sen1,2,3,Deepa Srikanta1,2,3 Ping Liang4,Mark A.Batzer1,2,3* , 1 Department of Biological Sciences, Louisiana State University, Baton Rouge, Louisiana, United States of America, 2 Biological Computation and Visualization Center, Louisiana State University, Baton Rouge, Louisiana, United States of America, 3 Center for BioModular Multi-Scale Systems, Louisiana State University, Baton Rouge, Louisiana,UnitedStatesofAmerica,4DepartmentofCancerGenetics,RoswellParkCancerInstitute,NewYork,UnitedStatesofAmerica With more than 1.2 million copies, Alu elements are one of the most important sources of structural variation in primate genomes. Here, we compare the chimpanzee and human genomes to determine the extent of Alu recombination-mediated deletion (ARMD) in the chimpanzee genome since the divergence of the chimpanzee and human lineages (;6 million y ago). Combining computational data analysis and experimental verification, we have identified663chimpanzeelineage-specificdeletions(involvingatotalof;771kbofgenomicsequence)attributable to this process. The ARMD events essentially counteract the genomic expansion caused by chimpanzee-specific Alu inserts. The RefSeq databases indicate that 13 exons in six genes, annotated as either demonstrably or putatively functional in the human genome, and 299 intronic regions have been deleted through ARMDs in the chimpanzee lineage. Therefore, our data suggest that this process may contribute to the genomic and phenotypic diversity betweenchimpanzeesandhumans.Inaddition,wefoundfourindependentARMDeventsatorthologouslociinthe gorillaororangutangenomes.ThissuggeststhathumanorthologsoflociatwhichARMDeventshavealreadyoccurred inothernonhumanprimategenomesmaybe‘‘at-risk’’motifsforfuturedeletions,whichmaysubsequentlycontribute tohumanlineage-specificgeneticrearrangementsanddisorders. Citatio