DNA sequence and analysis of human chromosome 18.
Chromosome 18 appears to have the lowest gene density of any human chromosome and is one of only three chromosomes for which trisomic individuals survive to term. There are also a number of genetic disorders stemming from chromosome 18 trisomy and aneuploidy. Here we report the finished sequence and gene annotation of human chromosome 18, which will allow a better understanding of the normal and disease biology of this chromosome. Despite the low density of protein-coding genes on chromosome 18, we find that the proportion of non-protein-coding sequences evolutionarily conserved among mammals is close to the genome-wide average. Extending this analysis to the entire human genome, we find that the density of conserved non-protein-coding sequences is largely uncorrelated with gene density. This has important implications for the nature and roles of non-protein-coding sequence elements.
Nusbaum
Chad
C
Broad Institute of MIT and Harvard, 320 Charles Street, Cambridge, Massachusetts 02141, USA. chad@broad.mit.edu
Zody
Michael C
MC
Borowsky
Mark L
ML
Kamal
Michael
M
Kodira
Chinnappa D
CD
Taylor
Todd D
TD
Whittaker
Charles A
CA
Chang
Jean L
JL
Cuomo
Christina A
CA
Dewar
Ken
K
FitzGerald
Michael G
MG
Yang
Xiaoping
X
Abouelleil
Amr
A
Allen
Nicole R
NR
Anderson
Scott
S
Bloom
Toby
T
Bugalter
Boris
B
Butler
Jonathan
J
Cook
April
A
DeCaprio
David
D
Engels
Reinhard
R
Garber
Manuel
M
Gnirke
Andreas
A
Hafez
Nabil
N
Hall
Jennifer L
JL
Norman
Catherine Hosage
CH
Itoh
Takehiko
T
Jaffe
David B
DB
Kuroki
Yoko
Y
Lehoczky
Jessica
J
Lui
Annie
A
Macdonald
Pendexter
P
Mauceli
Evan
E
Mikkelsen
Tarjei S
TS
Naylor
Jerome W
JW
Nicol
Robert
R
Nguyen
Cindy
C
Noguchi
Hideki
H
O'Leary
Sinéad B
SB
O'Neill
Keith
K
Piqani
Bruno
B
Smith
Cherylyn L
CL
Talamas
Jessica A
JA
Topham
Kerri
K
Totoki
Yasushi
Y
Toyoda
Atsushi
A
Wain
Hester M
HM
Young
Sarah K
SK
Zeng
Qiandong
Q
Zimmer
Andrew R
AR
Fujiyama
Asao
A
Hattori
Masahira
M
Birren
Bruce W
BW
Sakaki
Yoshiyuki
Y
Lander
Eric S
ES
D000782:Aneuploidy; D000818:Animals; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D017124:Conserved Sequence / Q000235:genetics; D018899:CpG Islands / Q000235:genetics; D004247:DNA / Q000235:genetics*; D005091:Exons / Q000235:genetics; D020224:Expressed Sequence Tags; D005796:Genes / Q000235:genetics; D015894:Genome, Human; D006801:Humans; D007438:Introns / Q000235:genetics; D008969:Molecular Sequence Data; D017422:Sequence Analysis, DNA; D026801:Synteny
D004247:DNA