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, 441 (7091), 315-21

The DNA Sequence and Biological Annotation of Human Chromosome 1

S G Gregory  1 K F BarlowK E McLayR KaulD SwarbreckA DunhamC E ScottK L HoweK WoodfineC C A SpencerM C JonesC GillsonS SearleY ZhouF KokocinskiL McDonaldR EvansK PhillipsA AtkinsonR CooperC JonesR E HallT D AndrewsC LloydR AinscoughJ P AlmeidaK D AmbroseF AndersonR W AndrewR I S AshwellK AubinA K BabbageC L BagguleyJ BaileyH BeasleyG BethelC P BirdS Bray-AllenJ Y BrownA J BrownD BuckleyJ BurtonJ ByeC CarderJ C ChapmanS Y ClarkG ClarkeC CleeV CobleyR E CollierN CorbyG J CovilleJ DaviesR DeadmanM DunnM EarthrowlA G EllingtonH ErringtonA FrankishJ FranklandL FrenchP GarnerJ GarnettL GayM R J GhoriR GibsonL M GilbyW GillettR J GlitheroD V GrafhamC GriffithsS Griffiths-JonesR GrocockS HammondE S I HarrisonE HartE HaugenP D HeathS HolmesK HoltP J HowdenA R HuntS E HuntG HunterJ IsherwoodR JamesC JohnsonD JohnsonA JoyM KayJ K KershawM KibukawaA M KimberleyA KingA J KnightsH LadG LairdS LawlorD A LeongamornlertD M LloydJ LovelandJ LovellM J LushR LyneS MartinM Mashreghi-MohammadiL MatthewsN S W MatthewsS McLarenS MilneS MistryM J F MooreT NickersonC N O'DellK OliverA PalmeiriS A PalmerA ParkerD PatelA V PearceA I PeckS PelanK PhelpsB J PhillimoreR PlumbJ RajanC RaymondG RouseC SaenphimmachakH K SehraE SheridanR ShownkeenS SimsC D SkuceM SmithC StewardS SubramanianN SycamoreA TraceyA TromansZ Van HelmondM WallJ M WallisS WhiteS L WhiteheadJ E WilkinsonD L WilleyH WilliamsL WilmingP W WrayZ WuA CoulsonM VaudinJ E SulstonR DurbinT HubbardR WoosterI DunhamN P CarterG McVeanM T RossJ HarrowM V OlsonS BeckJ RogersD R BentleyR BanerjeeS P BryantD C BurfordW D H BurrillS M CleggP DhamiO DoveyL M FaulknerS M GribbleC F LangfordR D PandianK M PorterE Prigmore

The DNA Sequence and Biological Annotation of Human Chromosome 1

S G Gregory et al. Nature.

Erratum in

  • Nature. 2006 Oct 26;443(7114):1013. Banerjee, R [added]; Bryant, SP [added]; Burford, DC [added]; Burrill, WDH [added]; Clegg, SM [added]; Dhami, P [added]; Dovey, O [added]; Faulkner, LM [added]; Gribble, SM [added]; Langford, CF [added]; Pandian, RD [added]; Porter, KM [added]; Prigmore, E


The reference sequence for each human chromosome provides the framework for understanding genome function, variation and evolution. Here we report the finished sequence and biological annotation of human chromosome 1. Chromosome 1 is gene-dense, with 3,141 genes and 991 pseudogenes, and many coding sequences overlap. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. Fine-scale recombination occurs in hotspots of varying intensity along the sequence, and is enriched near genes. These and other studies of human biology and disease encoded within chromosome 1 are made possible with the highly accurate annotated sequence, as part of the completed set of chromosome sequences that comprise the reference human genome.

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