The DNA sequence, annotation and analysis of human chromosome 3.
After the completion of a draft human genome sequence, the International Human Genome Sequencing Consortium has proceeded to finish and annotate each of the 24 chromosomes comprising the human genome. Here we describe the sequencing and analysis of human chromosome 3, one of the largest human chromosomes. Chromosome 3 comprises just four contigs, one of which currently represents the longest unbroken stretch of finished DNA sequence known so far. The chromosome is remarkable in having the lowest rate of segmental duplication in the genome. It also includes a chemokine receptor gene cluster as well as numerous loci involved in multiple human cancers such as the gene encoding FHIT, which contains the most common constitutive fragile site in the genome, FRA3B. Using genomic sequence from chimpanzee and rhesus macaque, we were able to characterize the breakpoints defining a large pericentric inversion that occurred some time after the split of Homininae from Ponginae, and propose an evolutionary history of the inversion.
Muzny
Donna M
DM
Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
Scherer
Steven E
SE
Kaul
Rajinder
R
Wang
Jing
J
Yu
Jun
J
Sudbrak
Ralf
R
Buhay
Christian J
CJ
Chen
Rui
R
Cree
Andrew
A
Ding
Yan
Y
Dugan-Rocha
Shannon
S
Gill
Rachel
R
Gunaratne
Preethi
P
Harris
R Alan
RA
Hawes
Alicia C
AC
Hernandez
Judith
J
Hodgson
Anne V
AV
Hume
Jennifer
J
Jackson
Andrew
A
Khan
Ziad Mohid
ZM
Kovar-Smith
Christie
C
Lewis
Lora R
LR
Lozado
Ryan J
RJ
Metzker
Michael L
ML
Milosavljevic
Aleksandar
A
Miner
George R
GR
Morgan
Margaret B
MB
Nazareth
Lynne V
LV
Scott
Graham
G
Sodergren
Erica
E
Song
Xing-Zhi
XZ
Steffen
David
D
Wei
Sharon
S
Wheeler
David A
DA
Wright
Mathew W
MW
Worley
Kim C
KC
Yuan
Ye
Y
Zhang
Zhengdong
Z
Adams
Charles Q
CQ
Ansari-Lari
M Ali
MA
Ayele
Mulu
M
Brown
Mary J
MJ
Chen
Guan
G
Chen
Zhijian
Z
Clendenning
James
J
Clerc-Blankenburg
Kerstin P
KP
Chen
Runsheng
R
Chen
Zhu
Z
Davis
Clay
C
Delgado
Oliver
O
Dinh
Huyen H
HH
Dong
Wei
W
Draper
Heather
H
Ernst
Stephen
S
Fu
Gang
G
Gonzalez-Garay
Manuel L
ML
Garcia
Dawn K
DK
Gillett
Will
W
Gu
Jun
J
Hao
Bailin
B
Haugen
Eric
E
Havlak
Paul
P
He
Xin
X
Hennig
Steffen
S
Hu
Songnian
S
Huang
Wei
W
Jackson
Laronda R
LR
Jacob
Leni S
LS
Kelly
Susan H
SH
Kube
Michael
M
Levy
Ruth
R
Li
Zhangwan
Z
Liu
Bin
B
Liu
Jing
J
Liu
Wen
W
Lu
Jing
J
Maheshwari
Manjula
M
Nguyen
Bao-Viet
BV
Okwuonu
Geoffrey O
GO
Palmeiri
Anthony
A
Pasternak
Shiran
S
Perez
Lesette M
LM
Phelps
Karen A
KA
Plopper
Farah J H
FJ
Qiang
Boqin
B
Raymond
Christopher
C
Rodriguez
Ruben
R
Saenphimmachak
Channakhone
C
Santibanez
Jireh
J
Shen
Hua
H
Shen
Yan
Y
Subramanian
Sandhya
S
Tabor
Paul E
PE
Verduzco
Daniel
D
Waldron
Lenee
L
Wang
Jian
J
Wang
Jun
J
Wang
Qiaoyan
Q
Williams
Gabrielle A
GA
Wong
Gane K-S
GK
Yao
Zhijian
Z
Zhang
JingKun
J
Zhang
Xiuqing
X
Zhao
Guoping
G
Zhou
Jianling
J
Zhou
Yang
Y
Nelson
David
D
Lehrach
Hans
H
Reinhardt
Richard
R
Naylor
Susan L
SL
Yang
Huanming
H
Olson
Maynard
M
Weinstock
George
G
Gibbs
Richard A
RA
D000818:Animals; D001483:Base Sequence; D019457:Chromosome Breakage / Q000235:genetics; D007446:Chromosome Inversion / Q000235:genetics; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D020451:Contig Mapping; D018899:CpG Islands / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D019143:Evolution, Molecular; D020224:Expressed Sequence Tags; D016045:Human Genome Project; D006801:Humans; D008253:Macaca mulatta / Q000235:genetics; D008969:Molecular Sequence Data; D002679:Pan troglodytes / Q000235:genetics; D017422:Sequence Analysis, DNA; D026801:Synteny / Q000235:genetics
D018076:DNA, Complementary