Home LiteratureArticle Details
PMID: 15057824 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.

The DNA sequence and biology of human chromosome 19.

Nature ·Vol. 428 ·No. 6982 ·2004-04-01 ·Pages 529-35

Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM, Lucas SM

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.

MeSH Terms
Alternative Splicing/genetics Animals Base Composition Chromosomes, Human, Pair 19/genetics Conserved Sequence/genetics CpG Islands/genetics Evolution, Molecular Gene Duplication Genes/genetics Genetics, Medical Humans Mice Molecular Sequence Data Multigene Family/genetics Physical Chromosome Mapping Pseudogenes/genetics Sequence Analysis, DNA
Authors & Affiliations
98 authors, click to expand affiliations / ORCID
Grimwood Jane
Stanford Human Genome Center, Department of Genetics, Stanford University School of Medicine, 975 California Avenue, Palo Alto, California 94304, USA. [email protected]
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
Article Info
Journal
Nature
Abbr.
Nature
ISSN
1476-4687
Published
2004-04-01
Pages
529-35
Language
English
Region
England
NLM ID
0410462
Subset
IM
Databases
RefSeq
NT_011109, NT_011295, NT_077812
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: [email protected]