IDEAS home Printed from https://ideas.repec.org/a/nat/nature/v431y2004i7006d10.1038_nature02919.html
   My bibliography  Save this article

The DNA sequence and comparative analysis of human chromosome 5

Author

Listed:
  • Jeremy Schmutz

    (Stanford University School of Medicine)

  • Joel Martin

    (DOE's Joint Genome Institute)

  • Astrid Terry

    (DOE's Joint Genome Institute)

  • Olivier Couronne

    (Lawrence Berkeley National Laboratory)

  • Jane Grimwood

    (Stanford University School of Medicine)

  • Steve Lowry

    (DOE's Joint Genome Institute)

  • Laurie A. Gordon

    (DOE's Joint Genome Institute
    Lawrence Livermore National Laboratory)

  • Duncan Scott

    (DOE's Joint Genome Institute)

  • Gary Xie

    (DOE's Joint Genome Institute
    Los Alamos National Laboratory)

  • Wayne Huang

    (DOE's Joint Genome Institute)

  • Uffe Hellsten

    (DOE's Joint Genome Institute)

  • Mary Tran-Gyamfi

    (DOE's Joint Genome Institute
    Lawrence Livermore National Laboratory)

  • Xinwei She

    (Center for Computational Genomics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland)

  • Shyam Prabhakar

    (Lawrence Berkeley National Laboratory)

  • Andrea Aerts

    (DOE's Joint Genome Institute)

  • Michael Altherr

    (DOE's Joint Genome Institute
    Los Alamos National Laboratory)

  • Eva Bajorek

    (Stanford University School of Medicine)

  • Stacey Black

    (Stanford University School of Medicine)

  • Elbert Branscomb

    (DOE's Joint Genome Institute
    Lawrence Livermore National Laboratory)

  • Chenier Caoile

    (Stanford University School of Medicine)

  • Jean F. Challacombe

    (Los Alamos National Laboratory)

  • Yee Man Chan

    (Stanford University School of Medicine)

  • Mirian Denys

    (Stanford University School of Medicine)

  • John C. Detter

    (DOE's Joint Genome Institute)

  • Julio Escobar

    (Stanford University School of Medicine)

  • Dave Flowers

    (Stanford University School of Medicine)

  • Dea Fotopulos

    (Stanford University School of Medicine)

  • Tijana Glavina

    (DOE's Joint Genome Institute)

  • Maria Gomez

    (Stanford University School of Medicine)

  • Eidelyn Gonzales

    (Stanford University School of Medicine)

  • David Goodstein

    (DOE's Joint Genome Institute)

  • Igor Grigoriev

    (DOE's Joint Genome Institute)

  • Matthew Groza

    (Lawrence Livermore National Laboratory)

  • Nancy Hammon

    (DOE's Joint Genome Institute)

  • Trevor Hawkins

    (DOE's Joint Genome Institute)

  • Lauren Haydu

    (Stanford University School of Medicine)

  • Sanjay Israni

    (DOE's Joint Genome Institute)

  • Jamie Jett

    (DOE's Joint Genome Institute)

  • Kristen Kadner

    (DOE's Joint Genome Institute)

  • Heather Kimball

    (DOE's Joint Genome Institute)

  • Arthur Kobayashi

    (DOE's Joint Genome Institute
    Lawrence Livermore National Laboratory)

  • Frederick Lopez

    (Stanford University School of Medicine)

  • Yunian Lou

    (DOE's Joint Genome Institute)

  • Diego Martinez

    (DOE's Joint Genome Institute)

  • Catherine Medina

    (Stanford University School of Medicine)

  • Jenna Morgan

    (DOE's Joint Genome Institute)

  • Richard Nandkeshwar

    (Lawrence Livermore National Laboratory)

  • James P. Noonan

    (Stanford University School of Medicine)

  • Sam Pitluck

    (DOE's Joint Genome Institute)

  • Martin Pollard

    (DOE's Joint Genome Institute)

  • Paul Predki

    (DOE's Joint Genome Institute)

  • James Priest

    (Lawrence Berkeley National Laboratory)

  • Lucia Ramirez

    (Stanford University School of Medicine)

  • James Retterer

    (Stanford University School of Medicine)

  • Alex Rodriguez

    (Stanford University School of Medicine)

  • Stephanie Rogers

    (Stanford University School of Medicine)

  • Asaf Salamov

    (DOE's Joint Genome Institute)

  • Angelica Salazar

    (Stanford University School of Medicine)

  • Nina Thayer

    (DOE's Joint Genome Institute
    Los Alamos National Laboratory)

  • Hope Tice

    (DOE's Joint Genome Institute)

  • Ming Tsai

    (Stanford University School of Medicine)

  • Anna Ustaszewska

    (DOE's Joint Genome Institute)

  • Nu Vo

    (Stanford University School of Medicine)

  • Jeremy Wheeler

    (Stanford University School of Medicine)

  • Kevin Wu

    (Stanford University School of Medicine)

  • Joan Yang

    (Stanford University School of Medicine)

  • Mark Dickson

    (Stanford University School of Medicine)

  • Jan-Fang Cheng

    (Lawrence Berkeley National Laboratory)

  • Evan E. Eichler

    (Center for Computational Genomics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland)

  • Anne Olsen

    (DOE's Joint Genome Institute
    Lawrence Livermore National Laboratory)

  • Len A. Pennacchio

    (DOE's Joint Genome Institute
    Lawrence Berkeley National Laboratory)

  • Daniel S. Rokhsar

    (DOE's Joint Genome Institute)

  • Paul Richardson

    (DOE's Joint Genome Institute)

  • Susan M. Lucas

    (DOE's Joint Genome Institute)

  • Richard M. Myers

    (Stanford University School of Medicine)

  • Edward M. Rubin

    (DOE's Joint Genome Institute
    Lawrence Berkeley National Laboratory)

Abstract

Chromosome 5 is one of the largest human chromosomes and contains numerous intrachromosomal duplications, yet it has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of noncoding conservation with non-mammalian vertebrates, suggesting that they are functionally constrained. In total, we compiled 177.7 million base pairs of highly accurate finished sequence containing 923 manually curated protein-coding genes including the protocadherin and interleukin gene families. We also completely sequenced versions of the large chromosome-5-specific internal duplications. These duplications are very recent evolutionary events and probably have a mechanistic role in human physiological variation, as deletions in these regions are the cause of debilitating disorders including spinal muscular atrophy.

Suggested Citation

  • Jeremy Schmutz & Joel Martin & Astrid Terry & Olivier Couronne & Jane Grimwood & Steve Lowry & Laurie A. Gordon & Duncan Scott & Gary Xie & Wayne Huang & Uffe Hellsten & Mary Tran-Gyamfi & Xinwei She , 2004. "The DNA sequence and comparative analysis of human chromosome 5," Nature, Nature, vol. 431(7006), pages 268-274, September.
    • Handle: RePEc:nat:nature:v:431:y:2004:i:7006:d:10.1038_nature02919
    DOI: 10.1038/nature02919
    as

    Download full text from publisher

    File URL: https://www.nature.com/articles/nature02919
    File Function: Abstract
    Download Restriction: Access to the full text of the articles in this series is restricted.
    File URL: https://libkey.io/10.1038/nature02919?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    As the access to this document is restricted, you may want to search for a different version of it.

    Citations

    Citations are extracted by the CitEc Project, subscribe to its RSS feed for this item.
    as


    Cited by:

    1. Yu Guo & Minjie Shen & Qiping Dong & Natasha M. Méndez-Albelo & Sabrina X. Huang & Carissa L. Sirois & Jonathan Le & Meng Li & Ezra D. Jarzembowski & Keegan A. Schoeller & Michael E. Stockton & Vaness, 2023. "Elevated levels of FMRP-target MAP1B impair human and mouse neuronal development and mouse social behaviors via autophagy pathway," Nature Communications, Nature, vol. 14(1), pages 1-23, December.

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:nat:nature:v:431:y:2004:i:7006:d:10.1038_nature02919. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    We have no bibliographic references for this item. You can help adding them by using this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Sonal Shukla or Springer Nature Abstracting and Indexing (email available below). General contact details of provider: http://www.nature.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.