Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
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.
Hillier
Ladeana W
LW
Genome Sequencing Center, Washington University School of Medicine, Campus Box 8501, 4444 Forest Park Avenue, St. Louis, Missouri 63108, USA.
Graves
Tina A
TA
Fulton
Robert S
RS
Fulton
Lucinda A
LA
Pepin
Kymberlie H
KH
Minx
Patrick
P
Wagner-McPherson
Caryn
C
Layman
Dan
D
Wylie
Kristine
K
Sekhon
Mandeep
M
Becker
Michael C
MC
Fewell
Ginger A
GA
Delehaunty
Kimberly D
KD
Miner
Tracie L
TL
Nash
William E
WE
Kremitzki
Colin
C
Oddy
Lachlan
L
Du
Hui
H
Sun
Hui
H
Bradshaw-Cordum
Holland
H
Ali
Johar
J
Carter
Jason
J
Cordes
Matt
M
Harris
Anthony
A
Isak
Amber
A
van Brunt
Andrew
A
Nguyen
Christine
C
Du
Feiyu
F
Courtney
Laura
L
Kalicki
Joelle
J
Ozersky
Philip
P
Abbott
Scott
S
Armstrong
Jon
J
Belter
Edward A
EA
Caruso
Lauren
L
Cedroni
Maria
M
Cotton
Marc
M
Davidson
Teresa
T
Desai
Anu
A
Elliott
Glendoria
G
Erb
Thomas
T
Fronick
Catrina
C
Gaige
Tony
T
Haakenson
William
W
Haglund
Krista
K
Holmes
Andrea
A
Harkins
Richard
R
Kim
Kyung
K
Kruchowski
Scott S
SS
Strong
Cynthia Madsen
CM
Grewal
Neenu
N
Goyea
Ernest
E
Hou
Shunfang
S
Levy
Andrew
A
Martinka
Scott
S
Mead
Kelly
K
McLellan
Michael D
MD
Meyer
Rick
R
Randall-Maher
Jennifer
J
Tomlinson
Chad
C
Dauphin-Kohlberg
Sara
S
Kozlowicz-Reilly
Amy
A
Shah
Neha
N
Swearengen-Shahid
Sharhonda
S
Snider
Jacqueline
J
Strong
Joseph T
JT
Thompson
Johanna
J
Yoakum
Martin
M
Leonard
Shawn
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Pearman
Charlene
C
Trani
Lee
L
Radionenko
Maxim
M
Waligorski
Jason E
JE
Wang
Chunyan
C
Rock
Susan M
SM
Tin-Wollam
Aye-Mon
AM
Maupin
Rachel
R
Latreille
Phil
P
Wendl
Michael C
MC
Yang
Shiaw-Pyng
SP
Pohl
Craig
C
Wallis
John W
JW
Spieth
John
J
Bieri
Tamberlyn A
TA
Berkowicz
Nicolas
N
Nelson
Joanne O
JO
Osborne
John
J
Ding
Li
L
Meyer
Rekha
R
Sabo
Aniko
A
Shotland
Yoram
Y
Sinha
Prashant
P
Wohldmann
Patricia E
PE
Cook
Lisa L
LL
Hickenbotham
Matthew T
MT
Eldred
James
J
Williams
Donald
D
Jones
Thomas A
TA
She
Xinwei
X
Ciccarelli
Francesca D
FD
Izaurralde
Elisa
E
Taylor
James
J
Schmutz
Jeremy
J
Myers
Richard M
RM
Cox
David R
DR
Huang
Xiaoqiu
X
McPherson
John D
JD
Mardis
Elaine R
ER
Clifton
Sandra W
SW
Warren
Wesley C
WC
Chinwalla
Asif T
AT
Eddy
Sean R
SR
Marra
Marco A
MA
Ovcharenko
Ivan
I
Furey
Terrence S
TS
Miller
Webb
W
Eichler
Evan E
EE
Bork
Peer
P
Suyama
Mikita
M
Torrents
David
D
Waterston
Robert H
RH
Wilson
Richard K
RK
D000818:Animals; D001482:Base Composition; D001483:Base Sequence; D002503:Centromere / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D017124:Conserved Sequence / Q000235:genetics; D018899:CpG Islands / Q000235:genetics; D022041:Euchromatin / Q000235:genetics; D020224:Expressed Sequence Tags; D020440:Gene Duplication; D014644:Genetic Variation / Q000235:genetics; D023281:Genomics; D006801:Humans; D008969:Molecular Sequence Data; D020161:Physical Chromosome Mapping; D011110:Polymorphism, Genetic / Q000235:genetics; D011323:Primates / Q000235:genetics; D011506:Proteins / Q000235:genetics; D011544:Pseudogenes / Q000235:genetics; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D022661:RNA, Untranslated / Q000032:analysis / Q000235:genetics; D011995:Recombination, Genetic / Q000235:genetics; D017422:Sequence Analysis, DNA
D022041:Euchromatin; D011506:Proteins; D012333:RNA, Messenger; D022661:RNA, Untranslated