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Generation and annotation of the DNA sequences of human chromosomes 2 and 4

Author

Listed:
  • LaDeana W. Hillier

    (Washington University School of Medicine)

  • Tina A. Graves

    (Washington University School of Medicine)

  • Robert S. Fulton

    (Washington University School of Medicine)

  • Lucinda A. Fulton

    (Washington University School of Medicine)

  • Kymberlie H. Pepin

    (Washington University School of Medicine)

  • Patrick Minx

    (Washington University School of Medicine)

  • Caryn Wagner-McPherson

    (Washington University School of Medicine)

  • Dan Layman

    (Washington University School of Medicine)

  • Kristine Wylie

    (Washington University School of Medicine)

  • Mandeep Sekhon

    (Washington University School of Medicine)

  • Michael C. Becker

    (Washington University School of Medicine)

  • Ginger A. Fewell

    (Washington University School of Medicine)

  • Kimberly D. Delehaunty

    (Washington University School of Medicine)

  • Tracie L. Miner

    (Washington University School of Medicine)

  • William E. Nash

    (Washington University School of Medicine)

  • Colin Kremitzki

    (Washington University School of Medicine)

  • Lachlan Oddy

    (Washington University School of Medicine)

  • Hui Du

    (Washington University School of Medicine)

  • Hui Sun

    (Washington University School of Medicine)

  • Holland Bradshaw-Cordum

    (Washington University School of Medicine)

  • Johar Ali

    (Washington University School of Medicine)

  • Jason Carter

    (Washington University School of Medicine)

  • Matt Cordes

    (Washington University School of Medicine)

  • Anthony Harris

    (Washington University School of Medicine)

  • Amber Isak

    (Washington University School of Medicine)

  • Andrew van Brunt

    (Washington University School of Medicine)

  • Christine Nguyen

    (Washington University School of Medicine)

  • Feiyu Du

    (Washington University School of Medicine)

  • Laura Courtney

    (Washington University School of Medicine)

  • Joelle Kalicki

    (Washington University School of Medicine)

  • Philip Ozersky

    (Washington University School of Medicine)

  • Scott Abbott

    (Washington University School of Medicine)

  • Jon Armstrong

    (Washington University School of Medicine)

  • Edward A. Belter

    (Washington University School of Medicine)

  • Lauren Caruso

    (Washington University School of Medicine)

  • Maria Cedroni

    (Washington University School of Medicine)

  • Marc Cotton

    (Washington University School of Medicine)

  • Teresa Davidson

    (Washington University School of Medicine)

  • Anu Desai

    (Washington University School of Medicine)

  • Glendoria Elliott

    (Washington University School of Medicine)

  • Thomas Erb

    (Washington University School of Medicine)

  • Catrina Fronick

    (Washington University School of Medicine)

  • Tony Gaige

    (Washington University School of Medicine)

  • William Haakenson

    (Washington University School of Medicine)

  • Krista Haglund

    (Washington University School of Medicine)

  • Andrea Holmes

    (Washington University School of Medicine)

  • Richard Harkins

    (Washington University School of Medicine)

  • Kyung Kim

    (Washington University School of Medicine)

  • Scott S. Kruchowski

    (Washington University School of Medicine)

  • Cynthia Madsen Strong

    (Washington University School of Medicine)

  • Neenu Grewal

    (Washington University School of Medicine)

  • Ernest Goyea

    (Washington University School of Medicine)

  • Shunfang Hou

    (Washington University School of Medicine)

  • Andrew Levy

    (Washington University School of Medicine)

  • Scott Martinka

    (Washington University School of Medicine)

  • Kelly Mead

    (Washington University School of Medicine)

  • Michael D. McLellan

    (Washington University School of Medicine)

  • Rick Meyer

    (Washington University School of Medicine)

  • Jennifer Randall-Maher

    (Washington University School of Medicine)

  • Chad Tomlinson

    (Washington University School of Medicine)

  • Sara Dauphin-Kohlberg

    (Washington University School of Medicine)

  • Amy Kozlowicz-Reilly

    (Washington University School of Medicine)

  • Neha Shah

    (Washington University School of Medicine)

  • Sharhonda Swearengen-Shahid

    (Washington University School of Medicine)

  • Jacqueline Snider

    (Washington University School of Medicine)

  • Joseph T. Strong

    (Washington University School of Medicine)

  • Johanna Thompson

    (Washington University School of Medicine)

  • Martin Yoakum

    (Washington University School of Medicine)

  • Shawn Leonard

    (Washington University School of Medicine)

  • Charlene Pearman

    (Washington University School of Medicine)

  • Lee Trani

    (Washington University School of Medicine)

  • Maxim Radionenko

    (Washington University School of Medicine)

  • Jason E. Waligorski

    (Washington University School of Medicine)

  • Chunyan Wang

    (Washington University School of Medicine)

  • Susan M. Rock

    (Washington University School of Medicine)

  • Aye-Mon Tin-Wollam

    (Washington University School of Medicine)

  • Rachel Maupin

    (Washington University School of Medicine)

  • Phil Latreille

    (Washington University School of Medicine)

  • Michael C. Wendl

    (Washington University School of Medicine)

  • Shiaw-Pyng Yang

    (Washington University School of Medicine)

  • Craig Pohl

    (Washington University School of Medicine)

  • John W. Wallis

    (Washington University School of Medicine)

  • John Spieth

    (Washington University School of Medicine)

  • Tamberlyn A. Bieri

    (Washington University School of Medicine)

  • Nicolas Berkowicz

    (Washington University School of Medicine)

  • Joanne O. Nelson

    (Washington University School of Medicine)

  • John Osborne

    (Washington University School of Medicine)

  • Li Ding

    (Washington University School of Medicine)

  • Rekha Meyer

    (Washington University School of Medicine)

  • Aniko Sabo

    (Washington University School of Medicine)

  • Yoram Shotland

    (Washington University School of Medicine)

  • Prashant Sinha

    (Washington University School of Medicine)

  • Patricia E. Wohldmann

    (Washington University School of Medicine)

  • Lisa L. Cook

    (Washington University School of Medicine)

  • Matthew T. Hickenbotham

    (Washington University School of Medicine)

  • James Eldred

    (Washington University School of Medicine)

  • Donald Williams

    (Washington University School of Medicine)

  • Thomas A. Jones

    (Washington University School of Medicine)

  • Xinwei She

    (Genome Sciences, University of Washington School of Medicine)

  • Francesca D. Ciccarelli

    (EMBL)

  • Elisa Izaurralde

    (EMBL)

  • James Taylor

    (Pennsylvania State University)

  • Jeremy Schmutz

    (Stanford University School of Medicine)

  • Richard M. Myers

    (Stanford University School of Medicine)

  • David R. Cox

    (Stanford University School of Medicine
    Perlegen Sciences Inc.)

  • Xiaoqiu Huang

    (Iowa State University)

  • John D. McPherson

    (Washington University School of Medicine
    Baylor College of Medicine, 1 Baylor Plaza, Human Genome Sequencing Center, N1519)

  • Elaine R. Mardis

    (Washington University School of Medicine)

  • Sandra W. Clifton

    (Washington University School of Medicine)

  • Wesley C. Warren

    (Washington University School of Medicine)

  • Asif T. Chinwalla

    (Washington University School of Medicine)

  • Sean R. Eddy

    (Washington University School of Medicine)

  • Marco A. Marra

    (Washington University School of Medicine
    Genome Sciences Centre, British Columbia Cancer Agency)

  • Ivan Ovcharenko

    (Lawrence Livermore National Laboratory)

  • Terrence S. Furey

    (University of California)

  • Webb Miller

    (Pennsylvania State University)

  • Evan E. Eichler

    (Genome Sciences, University of Washington School of Medicine)

  • Peer Bork

    (EMBL)

  • Mikita Suyama

    (EMBL)

  • David Torrents

    (EMBL)

  • Robert H. Waterston

    (Washington University School of Medicine
    University of Washington)

  • Richard K. Wilson

    (Washington University School of Medicine)

Abstract

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 attention primarily related to the search for the Huntington's disease gene, but also for genes associated with Wolf-Hirschhorn syndrome, polycystic kidney disease and a form of muscular dystrophy. Here we present approximately 237 million base pairs of sequence for chromosome 2, and 186 million base pairs for chromosome 4, representing more than 99.6% of their euchromatic sequences. Our initial analyses have identified 1,346 protein-coding genes and 1,239 pseudogenes on chromosome 2, and 796 protein-coding genes and 778 pseudogenes on chromosome 4. Extensive analyses confirm the underlying construction of the sequence, and expand our understanding of the structure and evolution of mammalian chromosomes, including gene deserts, segmental duplications and highly variant regions.

Suggested Citation

  • LaDeana W. Hillier & Tina A. Graves & Robert S. Fulton & Lucinda A. Fulton & Kymberlie H. Pepin & Patrick Minx & Caryn Wagner-McPherson & Dan Layman & Kristine Wylie & Mandeep Sekhon & Michael C. Beck, 2005. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4," Nature, Nature, vol. 434(7034), pages 724-731, April.
    • Handle: RePEc:nat:nature:v:434:y:2005:i:7034:d:10.1038_nature03466
    DOI: 10.1038/nature03466
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