DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
Chromosome 17 is unusual among the human chromosomes in many respects. It is the largest human autosome with orthology to only a single mouse chromosome, mapping entirely to the distal half of mouse chromosome 11. Chromosome 17 is rich in protein-coding genes, having the second highest gene density in the genome. It is also enriched in segmental duplications, ranking third in density among the autosomes. Here we report a finished sequence for human chromosome 17, as well as a structural comparison with the finished sequence for mouse chromosome 11, the first finished mouse chromosome. Comparison of the orthologous regions reveals striking differences. In contrast to the typical pattern seen in mammalian evolution, the human sequence has undergone extensive intrachromosomal rearrangement, whereas the mouse sequence has been remarkably stable. Moreover, although the human sequence has a high density of segmental duplication, the mouse sequence has a very low density. Notably, these segmental duplications correspond closely to the sites of structural rearrangement, demonstrating a link between duplication and rearrangement. Examination of the main classes of duplicated segments provides insight into the dynamics underlying expansion of chromosome-specific, low-copy repeats in the human genome.
Zody
Michael C
MC
Broad Institute of MIT and Harvard, 7 Cambridge Center, Massachusetts 02142, USA.
Garber
Manuel
M
Adams
David J
DJ
Sharpe
Ted
T
Harrow
Jennifer
J
Lupski
James R
JR
Nicholson
Christine
C
Searle
Steven M
SM
Wilming
Laurens
L
Young
Sarah K
SK
Abouelleil
Amr
A
Allen
Nicole R
NR
Bi
Weimin
W
Bloom
Toby
T
Borowsky
Mark L
ML
Bugalter
Boris E
BE
Butler
Jonathan
J
Chang
Jean L
JL
Chen
Chao-Kung
CK
Cook
April
A
Corum
Benjamin
B
Cuomo
Christina A
CA
de Jong
Pieter J
PJ
DeCaprio
David
D
Dewar
Ken
K
FitzGerald
Michael
M
Gilbert
James
J
Gibson
Richard
R
Gnerre
Sante
S
Goldstein
Steven
S
Grafham
Darren V
DV
Grocock
Russell
R
Hafez
Nabil
N
Hagopian
Daniel S
DS
Hart
Elizabeth
E
Norman
Catherine Hosage
CH
Humphray
Sean
S
Jaffe
David B
DB
Jones
Matt
M
Kamal
Michael
M
Khodiyar
Varsha K
VK
LaButti
Kurt
K
Laird
Gavin
G
Lehoczky
Jessica
J
Liu
Xiaohong
X
Lokyitsang
Tashi
T
Loveland
Jane
J
Lui
Annie
A
Macdonald
Pendexter
P
Major
John E
JE
Matthews
Lucy
L
Mauceli
Evan
E
McCarroll
Steven A
SA
Mihalev
Atanas H
AH
Mudge
Jonathan
J
Nguyen
Cindy
C
Nicol
Robert
R
O'Leary
Sinéad B
SB
Osoegawa
Kazutoyo
K
Schwartz
David C
DC
Shaw-Smith
Charles
C
Stankiewicz
Pawel
P
Steward
Charles
C
Swarbreck
David
D
Venkataraman
Vijay
V
Whittaker
Charles A
CA
Yang
Xiaoping
X
Zimmer
Andrew R
AR
Bradley
Allan
A
Hubbard
Tim
T
Birren
Bruce W
BW
Rogers
Jane
J
Lander
Eric S
ES
Nusbaum
Chad
C
D000818:Animals; D001482:Base Composition; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D019143:Evolution, Molecular; D020440:Gene Duplication; D006801:Humans; D020084:Long Interspersed Nucleotide Elements / Q000235:genetics; D051379:Mice; D017422:Sequence Analysis, DNA; D020086:Short Interspersed Nucleotide Elements / Q000235:genetics; D026801:Synteny / Q000235:genetics