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The DNA sequence and biology of human chromosome 19

Author

Listed:
  • Jane Grimwood

    (Stanford University School of Medicine)

  • Laurie A. Gordon

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

  • Anne Olsen

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

  • Astrid Terry

    (DOE's Joint Genome Institute)

  • Jeremy Schmutz

    (Stanford University School of Medicine)

  • Jane Lamerdin

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

  • Uffe Hellsten

    (DOE's Joint Genome Institute)

  • David Goodstein

    (DOE's Joint Genome Institute)

  • Olivier Couronne

    (DOE's Joint Genome Institute)

  • Mary Tran-Gyamfi

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

  • Andrea Aerts

    (DOE's Joint Genome Institute)

  • Michael Altherr

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

  • Linda Ashworth

    (DOE's Joint Genome Institute
    Lawrence Livermore 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)

  • Sean Caenepeel

    (DOE's Joint Genome Institute)

  • Anthony Carrano

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

  • Chenier Caoile

    (Stanford University School of Medicine)

  • Yee Man Chan

    (Stanford University School of Medicine)

  • Mari Christensen

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

  • Catherine A. Cleland

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

  • Alex Copeland

    (DOE's Joint Genome Institute)

  • Eileen Dalin

    (DOE's Joint Genome Institute)

  • Paramvir Dehal

    (DOE's Joint Genome Institute)

  • 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)

  • Carmen Garcia

    (Stanford University School of Medicine)

  • Anca M. Georgescu

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

  • Tijana Glavina

    (DOE's Joint Genome Institute)

  • Maria Gomez

    (Stanford University School of Medicine)

  • Eidelyn Gonzales

    (Stanford University School of Medicine)

  • Matthew Groza

    (DOE's Joint Genome Institute
    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)

  • Isaac Ho

    (DOE's Joint Genome Institute)

  • Wayne Huang

    (DOE's Joint Genome Institute)

  • 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)

  • Vladimer Larionov

    (National Cancer Institute, NIH)

  • Sun-Hee Leem

    (National Cancer Institute, NIH)

  • Frederick Lopez

    (Stanford University School of Medicine)

  • Yunian Lou

    (DOE's Joint Genome Institute)

  • Steve Lowry

    (DOE's Joint Genome Institute)

  • Stephanie Malfatti

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

  • Diego Martinez

    (DOE's Joint Genome Institute)

  • Paula McCready

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

  • Catherine Medina

    (Stanford University School of Medicine)

  • Jenna Morgan

    (DOE's Joint Genome Institute)

  • Kathryn Nelson

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

  • Matt Nolan

    (DOE's Joint Genome Institute)

  • Ivan Ovcharenko

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

  • Sam Pitluck

    (DOE's Joint Genome Institute)

  • Martin Pollard

    (DOE's Joint Genome Institute)

  • Anthony P. Popkie

    (Case Western Reserve University School of Medicine and University Hospitals of Cleveland)

  • Paul Predki

    (DOE's Joint Genome Institute)

  • Glenda Quan

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

  • Lucia Ramirez

    (Stanford University School of Medicine)

  • Sam Rash

    (DOE's Joint Genome Institute)

  • James Retterer

    (Stanford University School of Medicine)

  • Alex Rodriguez

    (Stanford University School of Medicine)

  • Stephanine Rogers

    (Stanford University School of Medicine)

  • Asaf Salamov

    (DOE's Joint Genome Institute)

  • Angelica Salazar

    (Stanford University School of Medicine)

  • Xinwei She

    (Case Western Reserve University School of Medicine and University Hospitals of Cleveland)

  • Doug Smith

    (DOE's Joint Genome Institute)

  • Tom Slezak

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

  • Victor Solovyev

    (DOE's Joint Genome Institute)

  • 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)

  • Mark Wagner

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

  • Jeremy Wheeler

    (Stanford University School of Medicine)

  • Kevin Wu

    (Stanford University School of Medicine)

  • Gary Xie

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

  • Joan Yang

    (Stanford University School of Medicine)

  • Inna Dubchak

    (DOE's Joint Genome Institute)

  • Terrence S. Furey

    (University of California)

  • Pieter DeJong

    (Children's Hospital Oakland)

  • Mark Dickson

    (Stanford University School of Medicine)

  • David Gordon

    (University of Washington)

  • Evan E. Eichler

    (Case Western Reserve University School of Medicine and University Hospitals of Cleveland)

  • Len A. Pennacchio

    (DOE's Joint Genome Institute)

  • Paul Richardson

    (DOE's Joint Genome Institute)

  • Lisa Stubbs

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

  • Daniel S. Rokhsar

    (DOE's Joint Genome Institute)

  • Richard M. Myers

    (Stanford University School of Medicine)

  • Edward M. Rubin

    (DOE's Joint Genome Institute)

  • Susan M. Lucas

    (DOE's Joint Genome Institute)

Abstract

Chromosome 19 has the highest gene density of all human chromosomes, more than double the genome-wide average. The large clustered gene families, corresponding high G + C content, CpG islands and density of repetitive DNA indicate a chromosome rich in biological and evolutionary significance. Here we describe 55.8 million base pairs of highly accurate finished sequence representing 99.9% of the euchromatin portion of the chromosome. Manual curation of gene loci reveals 1,461 protein-coding genes and 321 pseudogenes. Among these are genes directly implicated in mendelian disorders, including familial hypercholesterolaemia and insulin-resistant diabetes. Nearly one-quarter of these genes belong to tandemly arranged families, encompassing more than 25% of the chromosome. Comparative analyses show a fascinating picture of conservation and divergence, revealing large blocks of gene orthology with rodents, scattered regions with more recent gene family expansions and deletions, and segments of coding and non-coding conservation with the distant fish species Takifugu.

Suggested Citation

  • Jane Grimwood & Laurie A. Gordon & Anne Olsen & Astrid Terry & Jeremy Schmutz & Jane Lamerdin & Uffe Hellsten & David Goodstein & Olivier Couronne & Mary Tran-Gyamfi & Andrea Aerts & Michael Altherr &, 2004. "The DNA sequence and biology of human chromosome 19," Nature, Nature, vol. 428(6982), pages 529-535, April.
    • Handle: RePEc:nat:nature:v:428:y:2004:i:6982:d:10.1038_nature02399
    DOI: 10.1038/nature02399
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    Cited by:

    1. Derek Wong & Maha Tageldein & Ping Luo & Erik Ensminger & Jeffrey Bruce & Leslie Oldfield & Haifan Gong & Nicholas William Fischer & Brianne Laverty & Vallijah Subasri & Scott Davidson & Reem Khan & A, 2024. "Cell-free DNA from germline TP53 mutation carriers reflect cancer-like fragmentation patterns," Nature Communications, Nature, vol. 15(1), pages 1-16, December.
    2. Liye Zhang & Neahga Leonard & Rick Passaro & Mai Sy Luan & Pham Tuyen & Le Thi Ngoc Han & Nguyen Huy Cam & Larry Vogelnest & Michael Lynch & Amanda E. Fine & Nguyen Thi Thanh Nga & Nguyen Long & Benja, 2024. "Genomic adaptation to small population size and saltwater consumption in the critically endangered Cat Ba langur," Nature Communications, Nature, vol. 15(1), pages 1-14, December.

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