Mapping Insertions, Deletions and SNPs on Venters Chromosomes 英文参考文献.docVIP

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Mapping Insertions, Deletions and SNPs on Venters Chromosomes 英文参考文献.doc

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MappingInsertions,DeletionsandSNPsonVenter’s Chromosomes MariaCostantini*,GiorgioBernardi* StazioneZoologicaAntonDohrn,Naples,Italy Abstract Background: The very recent availability of fully sequenced individual human genomes is a major revolution in biology whichiscertainlygoingtoprovidenewinsightsintogeneticdiseasesandgenomicrearrangements. Results:Wemappedtheinsertions,deletionsandSNPs(singlenucleotidepolymorphisms)thatarepresentinCraigVenter’s genome, more precisely on chromosomes 17 to 22, and compared them with the human reference genome hg17. Our results show that insertions and deletions are almost absent in L1 and generally scarce in L2 isochore families (GC-poor L1+L2 isochores represent slightly over half of the human genome), whereas they increase in GC-rich isochores, largely parallelingthedensitiesofgenes,retroviralintegrationsandAlusequences.Thedistributionsofinsertions/deletionsarein striking contrast with those of SNPs which exhibit almost the same density across all isochore families with, however, a trendforlowerconcentrationsingene-richregions. Conclusions:Ourstudystronglysuggeststhatthedistributionofinsertions/deletionsisduetothestructureofchromatin which is mostly open in gene-rich, GC-rich isochores, and largely closed in gene-poor, GC-poor isochores. The different distributions of insertions/deletions and SNPs are clearly related to the two different responsible mechanisms, namely recombinationandpointmutations. Citation: Costantini M, Bernardi G (2009) Mapping Insertions, Deletions and SNPs on Venter’s Chromosomes. PLoS ONE 4(6): e5972. doi:10.1371/ journal.pone.0005972 Editor:MarkA.Batzer,LouisianaStateUniversity,UnitedStatesofAmerica ReceivedMarch31,2009;AcceptedMay19,2009;PublishedJune22,2009 Copyright:?2009Costantini,Bernardi.Thisisanopen-accessarticledistributedunderthetermsoftheCreativeCommonsAttributionLicense,whichpermits unrestricteduse,distribution,andreproductioninanymedium,providedtheoriginalauthorandsourcearecredited. Funding