The DNA sequence and biology of human chromosome 19

Grimwood, Jane; Gordon, Laurie A.; Olsen, Anne; Terry, Astrid; Schmutz, Jeremy; Lamerdin, Jane; Hellsten, Uffe; Goodstein, David; Couronne, Olivier; Tran-Gyamfi, Mary; Aerts, Andrea; Altherr, Michael; Ashworth, Linda; Bajorek, Eva; Black, Stacey; Branscomb, Elbert; Caenepeel, Sean; Carrano, Anthony; Caoile, Chenier; Chan, Yee Man; Christensen, Mari; Cleland, Catherine A.; Copeland, Alex; Dalin, Eileen; Dehal, Paramvir; Denys, Mirian; Detter, John C.; Escobar, Julio; Flowers, Dave; Fotopulos, Dea; Garcia, Carmen; Georgescu, Anca M.; Glavina, Tijana; Gomez, Maria; Gonzales, Eidelyn; Groza, Matthew; Hammon, Nancy; Hawkins, Trevor; Haydu, Lauren; Ho, Isaac; Huang, Wayne; Israni, Sanjay; Jett, Jamie; Kadner, Kristen; Kimball, Heather; Kobayashi, Arthur; Larionov, Vladimer; Leem, Sun-Hee; Lopez, Frederick; Lou, Yunian; Lowry, Steve; Malfatti, Stephanie; Martinez, Diego; McCready, Paula; Medina, Catherine; Morgan, Jenna; Nelson, Kathryn; Nolan, Matt; Ovcharenko, Ivan; Pitluck, Sam; Pollard, Martin; Popkie, Anthony P.; Predki, Paul; Quan, Glenda; Ramirez, Lucia; Rash, Sam; Retterer, James; Rodriguez, Alex; Rogers, Stephanine; Salamov, Asaf; Salazar, Angelica; She, Xinwei; Smith, Doug; Slezak, Tom; Solovyev, Victor; Thayer, Nina; Tice, Hope; Tsai, Ming; Ustaszewska, Anna; Vo, Nu; Wagner, Mark; Wheeler, Jeremy; Wu, Kevin; Xie, Gary; Yang, Joan; Dubchak, Inna; Furey, Terrence S.; DeJong, Pieter; Dickson, Mark; Gordon, David; Eichler, Evan E.; Pennacchio, Len A.; Richardson, Paul; Stubbs, Lisa; Rokhsar, Daniel S.; Myers, Richard M.; Rubin, Edward M.; Lucas, Susan M.

The DNA sequence and biology of human chromosome 19

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, Linda Ashworth, Eva Bajorek, Stacey Black, Elbert Branscomb, Sean Caenepeel, Anthony Carrano, Chenier Caoile, Yee Man Chan, Mari Christensen, Catherine A. Cleland, Alex Copeland, Eileen Dalin, Paramvir Dehal, Mirian Denys, John C. Detter, Julio Escobar, Dave Flowers, Dea Fotopulos, Carmen Garcia, Anca M. Georgescu, Tijana Glavina, Maria Gomez, Eidelyn Gonzales, Matthew Groza, Nancy Hammon, Trevor Hawkins, Lauren Haydu, Isaac Ho, Wayne Huang, Sanjay Israni, Jamie Jett, Kristen Kadner, Heather Kimball, Arthur Kobayashi, Vladimer Larionov, Sun-Hee Leem, Frederick Lopez, Yunian Lou, Steve Lowry, Stephanie Malfatti, Diego Martinez, Paula McCready, Catherine Medina, Jenna Morgan, Kathryn Nelson, Matt Nolan, Ivan Ovcharenko, Sam Pitluck, Martin Pollard, Anthony P. Popkie, Paul Predki, Glenda Quan, Lucia Ramirez, Sam Rash, James Retterer, Alex Rodriguez, Stephanine Rogers, Asaf Salamov, Angelica Salazar, Xinwei She, Doug Smith, Tom Slezak, Victor Solovyev, Nina Thayer, Hope Tice, Ming Tsai, Anna Ustaszewska, Nu Vo, Mark Wagner, Jeremy Wheeler, Kevin Wu, Gary Xie, Joan Yang, Inna Dubchak, Terrence S. Furey, Pieter DeJong, Mark Dickson, David Gordon, Evan E. Eichler, Len A. Pennacchio, Paul Richardson, Lisa Stubbs, Daniel S. Rokhsar, Richard M. Myers, Edward M. Rubin () and Susan M. Lucas
Additional contact information
Jane Grimwood: Stanford University School of Medicine
Laurie A. Gordon: DOE's Joint Genome Institute
Anne Olsen: DOE's Joint Genome Institute
Astrid Terry: DOE's Joint Genome Institute
Jeremy Schmutz: Stanford University School of Medicine
Jane Lamerdin: DOE's Joint Genome Institute
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
Andrea Aerts: DOE's Joint Genome Institute
Michael Altherr: DOE's Joint Genome Institute
Linda Ashworth: 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
Sean Caenepeel: DOE's Joint Genome Institute
Anthony Carrano: DOE's Joint Genome Institute
Chenier Caoile: Stanford University School of Medicine
Yee Man Chan: Stanford University School of Medicine
Mari Christensen: DOE's Joint Genome Institute
Catherine A. Cleland: DOE's Joint Genome Institute
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
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
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
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
Diego Martinez: DOE's Joint Genome Institute
Paula McCready: DOE's Joint Genome Institute
Catherine Medina: Stanford University School of Medicine
Jenna Morgan: DOE's Joint Genome Institute
Kathryn Nelson: DOE's Joint Genome Institute
Matt Nolan: DOE's Joint Genome Institute
Ivan Ovcharenko: DOE's Joint Genome Institute
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
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
Victor Solovyev: DOE's Joint Genome Institute
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
Mark Wagner: DOE's Joint Genome Institute
Jeremy Wheeler: Stanford University School of Medicine
Kevin Wu: Stanford University School of Medicine
Gary Xie: DOE's Joint Genome Institute
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
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

Nature, 2004, vol. 428, issue 6982, 529-535

Abstract: 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.

Date: 2004
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DOI: 10.1038/nature02399

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