The DNA sequence and comparative analysis of human chromosome 5

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, Shyam Prabhakar, Andrea Aerts, Michael Altherr, Eva Bajorek, Stacey Black, Elbert Branscomb, Chenier Caoile, Jean F. Challacombe, Yee Man Chan, Mirian Denys, John C. Detter, Julio Escobar, Dave Flowers, Dea Fotopulos, Tijana Glavina, Maria Gomez, Eidelyn Gonzales, David Goodstein, Igor Grigoriev, Matthew Groza, Nancy Hammon, Trevor Hawkins, Lauren Haydu, Sanjay Israni, Jamie Jett, Kristen Kadner, Heather Kimball, Arthur Kobayashi, Frederick Lopez, Yunian Lou, Diego Martinez, Catherine Medina, Jenna Morgan, Richard Nandkeshwar, James P. Noonan, Sam Pitluck, Martin Pollard, Paul Predki, James Priest, Lucia Ramirez, James Retterer, Alex Rodriguez, Stephanie Rogers, Asaf Salamov, Angelica Salazar, Nina Thayer, Hope Tice, Ming Tsai, Anna Ustaszewska, Nu Vo, Jeremy Wheeler, Kevin Wu, Joan Yang, Mark Dickson, Jan-Fang Cheng, Evan E. Eichler, Anne Olsen, Len A. Pennacchio, Daniel S. Rokhsar, Paul Richardson, Susan M. Lucas, Richard M. Myers and Edward M. Rubin ()
Additional contact information
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
Duncan Scott: DOE's Joint Genome Institute
Gary Xie: DOE's Joint Genome Institute
Wayne Huang: DOE's Joint Genome Institute
Uffe Hellsten: DOE's Joint Genome Institute
Mary Tran-Gyamfi: DOE's Joint Genome Institute
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
Eva Bajorek: Stanford University School of Medicine
Stacey Black: Stanford University School of Medicine
Elbert Branscomb: DOE's Joint Genome Institute
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
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
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
Len A. Pennacchio: DOE's Joint Genome Institute
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

Nature, 2004, vol. 431, issue 7006, 268-274

Abstract: 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.

Date: 2004
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DOI: 10.1038/nature02919

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