Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
, 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
Affiliations

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

Abstract

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.

Similar articles

  • Generation and Annotation of the DNA Sequences of Human Chromosomes 2 and 4
    LW Hillier et al. Nature 434 (7034), 724-31. PMID 15815621.
    Human chromosome 2 is unique to the human lineage in being the product of a head-to-head fusion of two intermediate-sized ancestral chromosomes. Chromosome 4 has received …
  • The DNA Sequence and Analysis of Human Chromosome 14
    R Heilig et al. Nature 421 (6923), 601-7. PMID 12508121.
    Chromosome 14 is one of five acrocentric chromosomes in the human genome. These chromosomes are characterized by a heterochromatic short arm that contains essentially rib …
  • The DNA Sequence and Comparative Analysis of Human Chromosome 10
    P Deloukas et al. Nature 429 (6990), 375-81. PMID 15164054.
    The finished sequence of human chromosome 10 comprises a total of 131,666,441 base pairs. It represents 99.4% of the euchromatic DNA and includes one megabase of heteroch …
  • DNA Sequence and Analysis of Human Chromosome 9
    SJ Humphray et al. Nature 429 (6990), 369-74. PMID 15164053.
    Chromosome 9 is highly structurally polymorphic. It contains the largest autosomal block of heterochromatin, which is heteromorphic in 6-8% of humans, whereas pericentric …
  • Decoding the Human Genome Sequence
    DR Bentley. Hum Mol Genet 9 (16), 2353-8. PMID 11005789. - Review
    The year 2000 is marked by the production of the sequence of the human genome. A 'working draft' of high quality sequence covering 90% of the genome has been determined a …
See all similar articles

Cited by 65 PubMed Central articles

See all "Cited by" articles

Publication types

Associated data

LinkOut - more resources

Feedback