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Comparative Study
. 2004 Dec 23;432(7020):988-94.
doi: 10.1038/nature03187.

The Sequence and Analysis of Duplication-Rich Human Chromosome 16

Joel Martin  1 Cliff HanLaurie A GordonAstrid TerryShyam PrabhakarXinwei SheGary XieUffe HellstenYee Man ChanMichael AltherrOlivier CouronneAndrea AertsEva BajorekStacey BlackHeather BlumerElbert BranscombNancy C BrownWilliam J BrunoJudith M BuckinghamDavid F CallenConnie S CampbellMary L CampbellEvelyn W CampbellChenier CaoileJean F ChallacombeLeslie A ChasteenOlga ChertkovHan C ChiMari ChristensenLynn M ClarkJudith D CohnMirian DenysJohn C DetterMark DicksonMira Dimitrijevic-BussodJulio EscobarJoseph J FawcettDave FlowersDea FotopulosTijana GlavinaMaria GomezEidelyn GonzalesDavid GoodsteinLynne A GoodwinDeborah L GradyIgor GrigorievMatthew GrozaNancy HammonTrevor HawkinsLauren HayduCarl E HildebrandWayne HuangSanjay IsraniJamie JettPhillip B JewettKristen KadnerHeather KimballArthur KobayashiMarie-Claude KrawczykTina LeybaJonathan L LongmireFrederick LopezYunian LouSteve LowryThom LudemanChitra F ManoharGraham A MarkKimberly L McMurrayLinda J MeinckeJenna MorganRobert K MoyzisMark O MundtA Christine MunkRichard D NandkeshwarSam PitluckMartin PollardPaul PredkiBeverly Parson-QuintanaLucia RamirezSam RashJames RettererDarryl O RickeDonna L RobinsonAlex RodriguezAsaf SalamovElizabeth H SaundersDuncan ScottTimothy ShoughRaymond L StallingsMalinda StalveyRobert D SutherlandRoxanne TapiaJudith G TesmerNina ThayerLinda S ThompsonHope TiceDavid C TorneyMary Tran-GyamfiMing TsaiLevy E UlanovskyAnna UstaszewskaNu VoP Scott WhiteAlbert L WilliamsPatricia L WillsJung-Rung WuKevin WuJoan YangPieter DejongDavid BruceNorman A DoggettLarry DeavenJeremy SchmutzJane GrimwoodPaul RichardsonDaniel S RokhsarEvan E EichlerPaul GilnaSusan M LucasRichard M MyersEdward M RubinLen A Pennacchio
Affiliations
Comparative Study

The Sequence and Analysis of Duplication-Rich Human Chromosome 16

Joel Martin et al. Nature. .

Abstract

Human chromosome 16 features one of the highest levels of segmentally duplicated sequence among the human autosomes. We report here the 78,884,754 base pairs of finished chromosome 16 sequence, representing over 99.9% of its euchromatin. Manual annotation revealed 880 protein-coding genes confirmed by 1,670 aligned transcripts, 19 transfer RNA genes, 341 pseudogenes and three RNA pseudogenes. These genes include metallothionein, cadherin and iroquois gene families, as well as the disease genes for polycystic kidney disease and acute myelomonocytic leukaemia. Several large-scale structural polymorphisms spanning hundreds of kilobase pairs were identified and result in gene content differences among humans. Whereas the segmental duplications of chromosome 16 are enriched in the relatively gene-poor pericentromere of the p arm, some are involved in recent gene duplication and conversion events that are likely to have had an impact on the evolution of primates and human disease susceptibility.

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