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.
Broad Institute of MIT and Harvard, 320 Charles Street, Cambridge, Massachusetts 02141, USA. mczody@broad.mit.edu
Michael C
MC
Zody
Manuel
M
Garber
Ted
T
Sharpe
Sarah K
SK
Young
Lee
L
Rowen
Keith
K
O'Neill
Charles A
CA
Whittaker
Michael
M
Kamal
Jean L
JL
Chang
Christina A
CA
Cuomo
Ken
K
Dewar
Michael G
MG
FitzGerald
Chinnappa D
CD
Kodira
Anup
A
Madan
Shizhen
S
Qin
Xiaoping
X
Yang
Nissa
N
Abbasi
Amr
A
Abouelleil
Harindra M
HM
Arachchi
Lida
L
Baradarani
Brian
B
Birditt
Scott
S
Bloom
Toby
T
Bloom
Mark L
ML
Borowsky
Jeremy
J
Burke
Jonathan
J
Butler
April
A
Cook
Kurt
K
DeArellano
David
D
DeCaprio
Lester
L
Dorris
Monica
M
Dors
Evan E
EE
Eichler
Reinhard
R
Engels
Jessica
J
Fahey
Peter
P
Fleetwood
Cynthia
C
Friedman
Gary
G
Gearin
Jennifer L
JL
Hall
Grace
G
Hensley
Ericka
E
Johnson
Charlien
C
Jones
Asha
A
Kamat
Amardeep
A
Kaur
Devin P
DP
Locke
Anuradha
A
Madan
Glen
G
Munson
David B
DB
Jaffe
Annie
A
Lui
Pendexter
P
Macdonald
Evan
E
Mauceli
Jerome W
JW
Naylor
Ryan
R
Nesbitt
Robert
R
Nicol
Sinéad B
SB
O'Leary
Amber
A
Ratcliffe
Steven
S
Rounsley
Xinwei
X
She
Katherine M B
KM
Sneddon
Sandra
S
Stewart
Carrie
C
Sougnez
Sabrina M
SM
Stone
Kerri
K
Topham
Dascena
D
Vincent
Shunguang
S
Wang
Andrew R
AR
Zimmer
Bruce W
BW
Birren
Leroy
L
Hood
Eric S
ES
Lander
Chad
C
Nusbaum
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