Home LiteratureArticle Details

PMID: 15815621 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S.

Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

Nature ·Vol. 434 ·No. 7034 ·2005-04-07 ·Pages 724-31

Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK

Abstract

Human chromosome 2 is unique to the human lineage in being the product of a head-to-head fusion of two intermediate-sized ancestral chromosomes. Chromosome 4 has received attention primarily related to the search for the Huntington's disease gene, but also for genes associated with Wolf-Hirschhorn syndrome, polycystic kidney disease and a form of muscular dystrophy. Here we present approximately 237 million base pairs of sequence for chromosome 2, and 186 million base pairs for chromosome 4, representing more than 99.6% of their euchromatic sequences. Our initial analyses have identified 1,346 protein-coding genes and 1,239 pseudogenes on chromosome 2, and 796 protein-coding genes and 778 pseudogenes on chromosome 4. Extensive analyses confirm the underlying construction of the sequence, and expand our understanding of the structure and evolution of mammalian chromosomes, including gene deserts, segmental duplications and highly variant regions.

MeSH Terms

Animals Base Composition Base Sequence Centromere/genetics Chromosomes, Human, Pair 2/genetics Chromosomes, Human, Pair 4/genetics Conserved Sequence/genetics CpG Islands/genetics Euchromatin/genetics Expressed Sequence Tags Gene Duplication Genetic Variation/genetics Genomics Humans Molecular Sequence Data Physical Chromosome Mapping Polymorphism, Genetic/genetics Primates/genetics Proteins/genetics Pseudogenes/genetics RNA, Messenger/analysis,genetics RNA, Untranslated/analysis,genetics Recombination, Genetic/genetics Sequence Analysis, DNA

Chemicals

Euchromatin Proteins RNA, Messenger RNA, Untranslated

Authors & Affiliations

122 authors, click to expand affiliations / ORCID

Hillier Ladeana W

Genome Sequencing Center, Washington University School of Medicine, Campus Box 8501, 4444 Forest Park Avenue, St. Louis, Missouri 63108, USA.

Graves Tina A

Fulton Robert S

Fulton Lucinda A

Pepin Kymberlie H

Minx Patrick

Wagner-McPherson Caryn

Layman Dan

Wylie Kristine

Sekhon Mandeep

Becker Michael C

Fewell Ginger A

Delehaunty Kimberly D

Miner Tracie L

Nash William E

Kremitzki Colin

Oddy Lachlan

Du Hui

Sun Hui

Bradshaw-Cordum Holland

Ali Johar

Carter Jason

Cordes Matt

Harris Anthony

Isak Amber

van Brunt Andrew

Nguyen Christine

Du Feiyu

Courtney Laura

Kalicki Joelle

Ozersky Philip

Abbott Scott

Armstrong Jon

Belter Edward A

Caruso Lauren

Cedroni Maria

Cotton Marc

Davidson Teresa

Desai Anu

Elliott Glendoria

Erb Thomas

Fronick Catrina

Gaige Tony

Haakenson William

Haglund Krista

Holmes Andrea

Harkins Richard

Kim Kyung

Kruchowski Scott S

Strong Cynthia Madsen

Grewal Neenu

Goyea Ernest

Hou Shunfang

Levy Andrew

Martinka Scott

Mead Kelly

McLellan Michael D

Meyer Rick

Randall-Maher Jennifer

Tomlinson Chad

Dauphin-Kohlberg Sara

Kozlowicz-Reilly Amy

Shah Neha

Swearengen-Shahid Sharhonda

Snider Jacqueline

Strong Joseph T

Thompson Johanna

Yoakum Martin

Leonard Shawn

Pearman Charlene

Trani Lee

Radionenko Maxim

Waligorski Jason E

Wang Chunyan

Rock Susan M

Tin-Wollam Aye-Mon

Maupin Rachel

Latreille Phil

Wendl Michael C

Yang Shiaw-Pyng

Pohl Craig

Wallis John W

Spieth John

Bieri Tamberlyn A

Berkowicz Nicolas

Nelson Joanne O

Osborne John

Ding Li

Meyer Rekha

Sabo Aniko

Shotland Yoram

Sinha Prashant

Wohldmann Patricia E

Cook Lisa L

Hickenbotham Matthew T

Eldred James

Williams Donald

Jones Thomas A

She Xinwei

Ciccarelli Francesca D

Izaurralde Elisa

Taylor James

Schmutz Jeremy

Myers Richard M

Cox David R

Huang Xiaoqiu

McPherson John D

Mardis Elaine R

Clifton Sandra W

Warren Wesley C

Chinwalla Asif T

Eddy Sean R

Marra Marco A

Ovcharenko Ivan

Furey Terrence S

Miller Webb

Eichler Evan E

Bork Peer

Suyama Mikita

Torrents David

Waterston Robert H

Wilson Richard K

Article Info

Journal

Nature

Abbr.

Nature

ISSN

1476-4687

DOI

10.1038/nature03466

Published

2005-04-07

Pages

724-31

Language

English

Region

England

NLM ID

0410462

Subset

Databases

GENBANK

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RefSeq

NC_000002, NC_000004

External Links

PubMed source DOI: 10.1038/nature03466 View journal details

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Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

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