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Comparative Study
, 425 (6960), 805-11

The DNA Sequence and Analysis of Human Chromosome 6

A J Mungall  1 S A PalmerS K SimsC A EdwardsJ L AshurstL WilmingM C JonesR HortonS E HuntC E ScottJ G R GilbertM E ClampG BethelS MilneR AinscoughJ P AlmeidaK D AmbroseT D AndrewsR I S AshwellA K BabbageC L BagguleyJ BaileyR BanerjeeD J BarkerK F BarlowK BatesD M BeareH BeasleyO BeasleyC P BirdS BlakeyS Bray-AllenJ BrookA J BrownJ Y BrownD C BurfordW BurrillJ BurtonC CarderN P CarterJ C ChapmanS Y ClarkG ClarkC M CleeS CleggV CobleyR E CollierJ E CollinsL K ColmanN R CorbyG J CovilleK M CulleyP DhamiJ DaviesM DunnM E EarthrowlA E EllingtonK A EvansL FaulknerM D FrancisA FrankishJ FranklandL FrenchP GarnerJ GarnettM J R GhoriL M GilbyC J GillsonR J GlitheroD V GrafhamM GrantS GribbleC GriffithsM GriffithsR HallK S HallsS HammondJ L HarleyE A HartP D HeathR HeathcottS J HolmesP J HowdenK L HoweG R HowellE HuckleS J HumphrayM D HumphriesA R HuntC M JohnsonA A JoyM KayS J KeenanA M KimberleyA KingG K LairdC LangfordS LawlorD A LeongamornlertM LevershaC R LloydD M LloydJ E LovelandJ LovellS MartinM Mashreghi-MohammadiG L MaslenL MatthewsO T McCannS J McLarenK McLayA McMurrayM J F MooreJ C MullikinD NiblettT NickersonK L NovikK OliverE K Overton-LartyA ParkerR PatelA V PearceA I PeckB PhillimoreS PhillipsR W PlumbK M PorterY RamseyS A RanbyC M RiceM T RossS M SearleH K SehraE SheridanC D SkuceS SmithM SmithL SpraggonS L SquaresC A StewardN SycamoreG Tamlyn-HallJ TesterA J TheakerD W ThomasA ThorpeA TraceyA TromansB TubbyM WallJ M WallisA P WestS S WhiteS L WhiteheadH WhittakerA WildD J WilleyT E WilmerJ M WoodP W WrayJ C WyattL YoungR M YoungerD R BentleyA CoulsonR DurbinT HubbardJ E SulstonI DunhamJ RogersS Beck
Affiliations
Comparative Study

The DNA Sequence and Analysis of Human Chromosome 6

A J Mungall et al. Nature.

Abstract

Chromosome 6 is a metacentric chromosome that constitutes about 6% of the human genome. The finished sequence comprises 166,880,988 base pairs, representing the largest chromosome sequenced so far. The entire sequence has been subjected to high-quality manual annotation, resulting in the evidence-supported identification of 1,557 genes and 633 pseudogenes. Here we report that at least 96% of the protein-coding genes have been identified, as assessed by multi-species comparative sequence analysis, and provide evidence for the presence of further, otherwise unsupported exons/genes. Among these are genes directly implicated in cancer, schizophrenia, autoimmunity and many other diseases. Chromosome 6 harbours the largest transfer RNA gene cluster in the genome; we show that this cluster co-localizes with a region of high transcriptional activity. Within the essential immune loci of the major histocompatibility complex, we find HLA-B to be the most polymorphic gene on chromosome 6 and in the human genome.

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