Analysis of the DNA sequence and duplication history of human chromosome 15.
Here we present a finished sequence of human chromosome 15, together with a high-quality gene catalogue. As chromosome 15 is one of seven human chromosomes with a high rate of segmental duplication, we have carried out a detailed analysis of the duplication structure of the chromosome. Segmental duplications in chromosome 15 are largely clustered in two regions, on proximal and distal 15q; the proximal region is notable because recombination among the segmental duplications can result in deletions causing Prader-Willi and Angelman syndromes. Sequence analysis shows that the proximal and distal regions of 15q share extensive ancient similarity. Using a simple approach, we have been able to reconstruct many of the events by which the current duplication structure arose. We find that most of the intrachromosomal duplications seem to share a common ancestry. Finally, we demonstrate that some remaining gaps in the genome sequence are probably due to structural polymorphisms between haplotypes; this may explain a significant fraction of the gaps remaining in the human genome.
Zody
Michael C
MC
Broad Institute of MIT and Harvard, 320 Charles Street, Cambridge, Massachusetts 02141, USA. mczody@broad.mit.edu
Garber
Manuel
M
Sharpe
Ted
T
Young
Sarah K
SK
Rowen
Lee
L
O'Neill
Keith
K
Whittaker
Charles A
CA
Kamal
Michael
M
Chang
Jean L
JL
Cuomo
Christina A
CA
Dewar
Ken
K
FitzGerald
Michael G
MG
Kodira
Chinnappa D
CD
Madan
Anup
A
Qin
Shizhen
S
Yang
Xiaoping
X
Abbasi
Nissa
N
Abouelleil
Amr
A
Arachchi
Harindra M
HM
Baradarani
Lida
L
Birditt
Brian
B
Bloom
Scott
S
Bloom
Toby
T
Borowsky
Mark L
ML
Burke
Jeremy
J
Butler
Jonathan
J
Cook
April
A
DeArellano
Kurt
K
DeCaprio
David
D
Dorris
Lester
L
Dors
Monica
M
Eichler
Evan E
EE
Engels
Reinhard
R
Fahey
Jessica
J
Fleetwood
Peter
P
Friedman
Cynthia
C
Gearin
Gary
G
Hall
Jennifer L
JL
Hensley
Grace
G
Johnson
Ericka
E
Jones
Charlien
C
Kamat
Asha
A
Kaur
Amardeep
A
Locke
Devin P
DP
Madan
Anuradha
A
Munson
Glen
G
Jaffe
David B
DB
Lui
Annie
A
Macdonald
Pendexter
P
Mauceli
Evan
E
Naylor
Jerome W
JW
Nesbitt
Ryan
R
Nicol
Robert
R
O'Leary
Sinéad B
SB
Ratcliffe
Amber
A
Rounsley
Steven
S
She
Xinwei
X
Sneddon
Katherine M B
KM
Stewart
Sandra
S
Sougnez
Carrie
C
Stone
Sabrina M
SM
Topham
Kerri
K
Vincent
Dascena
D
Wang
Shunguang
S
Zimmer
Andrew R
AR
Birren
Bruce W
BW
Hood
Leroy
L
Lander
Eric S
ES
Nusbaum
Chad
C
D000818:Animals; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D017124:Conserved Sequence / Q000235:genetics; D019143:Evolution, Molecular; D020440:Gene Duplication; D005796:Genes; D015894:Genome, Human; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008253:Macaca mulatta / Q000235:genetics; D008969:Molecular Sequence Data; D005810:Multigene Family / Q000235:genetics; D010802:Phylogeny; D011110:Polymorphism, Genetic / Q000235:genetics; D017422:Sequence Analysis, DNA; D026801:Synteny / Q000235:genetics