The DNA sequence of human chromosome 7.
Human chromosome 7 has historically received prominent attention in the human genetics community, primarily related to the search for the cystic fibrosis gene and the frequent cytogenetic changes associated with various forms of cancer. Here we present more than 153 million base pairs representing 99.4% of the euchromatic sequence of chromosome 7, the first metacentric chromosome completed so far. The sequence has excellent concordance with previously established physical and genetic maps, and it exhibits an unusual amount of segmentally duplicated sequence (8.2%), with marked differences between the two arms. Our initial analyses have identified 1,150 protein-coding genes, 605 of which have been confirmed by complementary DNA sequences, and an additional 941 pseudogenes. Of genes confirmed by transcript sequences, some are polymorphic for mutations that disrupt the reading frame.
Hillier
Ladeana W
LW
Genome Sequencing Center, Washington University School of Medicine, Campus Box 8501, 4444 Forest Park Avenue, St Louis, Missouri 63108, USA.
Fulton
Robert S
RS
Fulton
Lucinda A
LA
Graves
Tina A
TA
Pepin
Kymberlie H
KH
Wagner-McPherson
Caryn
C
Layman
Dan
D
Maas
Jason
J
Jaeger
Sara
S
Walker
Rebecca
R
Wylie
Kristine
K
Sekhon
Mandeep
M
Becker
Michael C
MC
O'Laughlin
Michelle D
MD
Schaller
Mark E
ME
Fewell
Ginger A
GA
Delehaunty
Kimberly D
KD
Miner
Tracie L
TL
Nash
William E
WE
Cordes
Matt
M
Du
Hui
H
Sun
Hui
H
Edwards
Jennifer
J
Bradshaw-Cordum
Holland
H
Ali
Johar
J
Andrews
Stephanie
S
Isak
Amber
A
Vanbrunt
Andrew
A
Nguyen
Christine
C
Du
Feiyu
F
Lamar
Betty
B
Courtney
Laura
L
Kalicki
Joelle
J
Ozersky
Philip
P
Bielicki
Lauren
L
Scott
Kelsi
K
Holmes
Andrea
A
Harkins
Richard
R
Harris
Anthony
A
Strong
Cynthia Madsen
CM
Hou
Shunfang
S
Tomlinson
Chad
C
Dauphin-Kohlberg
Sara
S
Kozlowicz-Reilly
Amy
A
Leonard
Shawn
S
Rohlfing
Theresa
T
Rock
Susan M
SM
Tin-Wollam
Aye-Mon
AM
Abbott
Amanda
A
Minx
Patrick
P
Maupin
Rachel
R
Strowmatt
Catrina
C
Latreille
Phil
P
Miller
Nancy
N
Johnson
Doug
D
Murray
Jennifer
J
Woessner
Jeffrey P
JP
Wendl
Michael C
MC
Yang
Shiaw-Pyng
SP
Schultz
Brian R
BR
Wallis
John W
JW
Spieth
John
J
Bieri
Tamberlyn A
TA
Nelson
Joanne O
JO
Berkowicz
Nicolas
N
Wohldmann
Patricia E
PE
Cook
Lisa L
LL
Hickenbotham
Matthew T
MT
Eldred
James
J
Williams
Donald
D
Bedell
Joseph A
JA
Mardis
Elaine R
ER
Clifton
Sandra W
SW
Chissoe
Stephanie L
SL
Marra
Marco A
MA
Raymond
Christopher
C
Haugen
Eric
E
Gillett
Will
W
Zhou
Yang
Y
James
Rose
R
Phelps
Karen
K
Iadanoto
Shawn
S
Bubb
Kerry
K
Simms
Elizabeth
E
Levy
Ruth
R
Clendenning
James
J
Kaul
Rajinder
R
Kent
W James
WJ
Furey
Terrence S
TS
Baertsch
Robert A
RA
Brent
Michael R
MR
Keibler
Evan
E
Flicek
Paul
P
Bork
Peer
P
Suyama
Mikita
M
Bailey
Jeffrey A
JA
Portnoy
Matthew E
ME
Torrents
David
D
Chinwalla
Asif T
AT
Gish
Warren R
WR
Eddy
Sean R
SR
McPherson
John D
JD
Olson
Maynard V
MV
Eichler
Evan E
EE
Green
Eric D
ED
Waterston
Robert H
RH
Wilson
Richard K
RK
D000818:Animals; D001483:Base Sequence; D002897:Chromosomes, Human, Pair 7; D020440:Gene Duplication; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D020161:Physical Chromosome Mapping; D011506:Proteins / Q000235:genetics; D011544:Pseudogenes; D022661:RNA, Untranslated; D017422:Sequence Analysis, DNA; D013045:Species Specificity; D018980:Williams Syndrome / Q000235:genetics
D011506:Proteins; D022661:RNA, Untranslated