The DNA sequence of the human X chromosome.
The human X chromosome has a unique biology that was shaped by its evolution as the sex chromosome shared by males and females. We have determined 99.3% of the euchromatic sequence of the X chromosome. Our analysis illustrates the autosomal origin of the mammalian sex chromosomes, the stepwise process that led to the progressive loss of recombination between X and Y, and the extent of subsequent degradation of the Y chromosome. LINE1 repeat elements cover one-third of the X chromosome, with a distribution that is consistent with their proposed role as way stations in the process of X-chromosome inactivation. We found 1,098 genes in the sequence, of which 99 encode proteins expressed in testis and in various tumour types. A disproportionately high number of mendelian diseases are documented for the X chromosome. Of this number, 168 have been explained by mutations in 113 X-linked genes, which in many cases were characterized with the aid of the DNA sequence.
Ross
Mark T
MT
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK. mtr@sanger.ac.uk
Grafham
Darren V
DV
Coffey
Alison J
AJ
Scherer
Steven
S
McLay
Kirsten
K
Muzny
Donna
D
Platzer
Matthias
M
Howell
Gareth R
GR
Burrows
Christine
C
Bird
Christine P
CP
Frankish
Adam
A
Lovell
Frances L
FL
Howe
Kevin L
KL
Ashurst
Jennifer L
JL
Fulton
Robert S
RS
Sudbrak
Ralf
R
Wen
Gaiping
G
Jones
Matthew C
MC
Hurles
Matthew E
ME
Andrews
T Daniel
TD
Scott
Carol E
CE
Searle
Stephen
S
Ramser
Juliane
J
Whittaker
Adam
A
Deadman
Rebecca
R
Carter
Nigel P
NP
Hunt
Sarah E
SE
Chen
Rui
R
Cree
Andrew
A
Gunaratne
Preethi
P
Havlak
Paul
P
Hodgson
Anne
A
Metzker
Michael L
ML
Richards
Stephen
S
Scott
Graham
G
Steffen
David
D
Sodergren
Erica
E
Wheeler
David A
DA
Worley
Kim C
KC
Ainscough
Rachael
R
Ambrose
Kerrie D
KD
Ansari-Lari
M Ali
MA
Aradhya
Swaroop
S
Ashwell
Robert I S
RI
Babbage
Anne K
AK
Bagguley
Claire L
CL
Ballabio
Andrea
A
Banerjee
Ruby
R
Barker
Gary E
GE
Barlow
Karen F
KF
Barrett
Ian P
IP
Bates
Karen N
KN
Beare
David M
DM
Beasley
Helen
H
Beasley
Oliver
O
Beck
Alfred
A
Bethel
Graeme
G
Blechschmidt
Karin
K
Brady
Nicola
N
Bray-Allen
Sarah
S
Bridgeman
Anne M
AM
Brown
Andrew J
AJ
Brown
Mary J
MJ
Bonnin
David
D
Bruford
Elspeth A
EA
Buhay
Christian
C
Burch
Paula
P
Burford
Deborah
D
Burgess
Joanne
J
Burrill
Wayne
W
Burton
John
J
Bye
Jackie M
JM
Carder
Carol
C
Carrel
Laura
L
Chako
Joseph
J
Chapman
Joanne C
JC
Chavez
Dean
D
Chen
Ellson
E
Chen
Guan
G
Chen
Yuan
Y
Chen
Zhijian
Z
Chinault
Craig
C
Ciccodicola
Alfredo
A
Clark
Sue Y
SY
Clarke
Graham
G
Clee
Chris M
CM
Clegg
Sheila
S
Clerc-Blankenburg
Kerstin
K
Clifford
Karen
K
Cobley
Vicky
V
Cole
Charlotte G
CG
Conquer
Jen S
JS
Corby
Nicole
N
Connor
Richard E
RE
David
Robert
R
Davies
Joy
J
Davis
Clay
C
Davis
John
J
Delgado
Oliver
O
Deshazo
Denise
D
Dhami
Pawandeep
P
Ding
Yan
Y
Dinh
Huyen
H
Dodsworth
Steve
S
Draper
Heather
H
Dugan-Rocha
Shannon
S
Dunham
Andrew
A
Dunn
Matthew
M
Durbin
K James
KJ
Dutta
Ireena
I
Eades
Tamsin
T
Ellwood
Matthew
M
Emery-Cohen
Alexandra
A
Errington
Helen
H
Evans
Kathryn L
KL
Faulkner
Louisa
L
Francis
Fiona
F
Frankland
John
J
Fraser
Audrey E
AE
Galgoczy
Petra
P
Gilbert
James
J
Gill
Rachel
R
Glöckner
Gernot
G
Gregory
Simon G
SG
Gribble
Susan
S
Griffiths
Coline
C
Grocock
Russell
R
Gu
Yanghong
Y
Gwilliam
Rhian
R
Hamilton
Cerissa
C
Hart
Elizabeth A
EA
Hawes
Alicia
A
Heath
Paul D
PD
Heitmann
Katja
K
Hennig
Steffen
S
Hernandez
Judith
J
Hinzmann
Bernd
B
Ho
Sarah
S
Hoffs
Michael
M
Howden
Phillip J
PJ
Huckle
Elizabeth J
EJ
Hume
Jennifer
J
Hunt
Paul J
PJ
Hunt
Adrienne R
AR
Isherwood
Judith
J
Jacob
Leni
L
Johnson
David
D
Jones
Sally
S
de Jong
Pieter J
PJ
Joseph
Shirin S
SS
Keenan
Stephen
S
Kelly
Susan
S
Kershaw
Joanne K
JK
Khan
Ziad
Z
Kioschis
Petra
P
Klages
Sven
S
Knights
Andrew J
AJ
Kosiura
Anna
A
Kovar-Smith
Christie
C
Laird
Gavin K
GK
Langford
Cordelia
C
Lawlor
Stephanie
S
Leversha
Margaret
M
Lewis
Lora
L
Liu
Wen
W
Lloyd
Christine
C
Lloyd
David M
DM
Loulseged
Hermela
H
Loveland
Jane E
JE
Lovell
Jamieson D
JD
Lozado
Ryan
R
Lu
Jing
J
Lyne
Rachael
R
Ma
Jie
J
Maheshwari
Manjula
M
Matthews
Lucy H
LH
McDowall
Jennifer
J
McLaren
Stuart
S
McMurray
Amanda
A
Meidl
Patrick
P
Meitinger
Thomas
T
Milne
Sarah
S
Miner
George
G
Mistry
Shailesh L
SL
Morgan
Margaret
M
Morris
Sidney
S
Müller
Ines
I
Mullikin
James C
JC
Nguyen
Ngoc
N
Nordsiek
Gabriele
G
Nyakatura
Gerald
G
O'Dell
Christopher N
CN
Okwuonu
Geoffery
G
Palmer
Sophie
S
Pandian
Richard
R
Parker
David
D
Parrish
Julia
J
Pasternak
Shiran
S
Patel
Dina
D
Pearce
Alex V
AV
Pearson
Danita M
DM
Pelan
Sarah E
SE
Perez
Lesette
L
Porter
Keith M
KM
Ramsey
Yvonne
Y
Reichwald
Kathrin
K
Rhodes
Susan
S
Ridler
Kerry A
KA
Schlessinger
David
D
Schueler
Mary G
MG
Sehra
Harminder K
HK
Shaw-Smith
Charles
C
Shen
Hua
H
Sheridan
Elizabeth M
EM
Shownkeen
Ratna
R
Skuce
Carl D
CD
Smith
Michelle L
ML
Sotheran
Elizabeth C
EC
Steingruber
Helen E
HE
Steward
Charles A
CA
Storey
Roy
R
Swann
R Mark
RM
Swarbreck
David
D
Tabor
Paul E
PE
Taudien
Stefan
S
Taylor
Tineace
T
Teague
Brian
B
Thomas
Karen
K
Thorpe
Andrea
A
Timms
Kirsten
K
Tracey
Alan
A
Trevanion
Steve
S
Tromans
Anthony C
AC
d'Urso
Michele
M
Verduzco
Daniel
D
Villasana
Donna
D
Waldron
Lenee
L
Wall
Melanie
M
Wang
Qiaoyan
Q
Warren
James
J
Warry
Georgina L
GL
Wei
Xuehong
X
West
Anthony
A
Whitehead
Siobhan L
SL
Whiteley
Mathew N
MN
Wilkinson
Jane E
JE
Willey
David L
DL
Williams
Gabrielle
G
Williams
Leanne
L
Williamson
Angela
A
Williamson
Helen
H
Wilming
Laurens
L
Woodmansey
Rebecca L
RL
Wray
Paul W
PW
Yen
Jennifer
J
Zhang
Jingkun
J
Zhou
Jianling
J
Zoghbi
Huda
H
Zorilla
Sara
S
Buck
David
D
Reinhardt
Richard
R
Poustka
Annemarie
A
Rosenthal
André
A
Lehrach
Hans
H
Meindl
Alfons
A
Minx
Patrick J
PJ
Hillier
Ladeana W
LW
Willard
Huntington F
HF
Wilson
Richard K
RK
Waterston
Robert H
RH
Rice
Catherine M
CM
Vaudin
Mark
M
Coulson
Alan
A
Nelson
David L
DL
Weinstock
George
G
Sulston
John E
JE
Durbin
Richard
R
Hubbard
Tim
T
Gibbs
Richard A
RA
Beck
Stephan
S
Rogers
Jane
J
Bentley
David R
DR
D000818:Animals; D000951:Antigens, Neoplasm / Q000235:genetics; D002503:Centromere / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics; D020451:Contig Mapping; D003434:Crossing Over, Genetic / Q000235:genetics; D004303:Dosage Compensation, Genetic; D019143:Evolution, Molecular; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D005826:Genetics, Medical; D023281:Genomics; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012313:RNA / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D017422:Sequence Analysis, DNA; D012689:Sequence Homology, Nucleic Acid; D013737:Testis / Q000378:metabolism
D000951:Antigens, Neoplasm; D012313:RNA