The DNA sequence and biology of human chromosome 19.
Chromosome 19 has the highest gene density of all human chromosomes, more than double the genome-wide average. The large clustered gene families, corresponding high G + C content, CpG islands and density of repetitive DNA indicate a chromosome rich in biological and evolutionary significance. Here we describe 55.8 million base pairs of highly accurate finished sequence representing 99.9% of the euchromatin portion of the chromosome. Manual curation of gene loci reveals 1,461 protein-coding genes and 321 pseudogenes. Among these are genes directly implicated in mendelian disorders, including familial hypercholesterolaemia and insulin-resistant diabetes. Nearly one-quarter of these genes belong to tandemly arranged families, encompassing more than 25% of the chromosome. Comparative analyses show a fascinating picture of conservation and divergence, revealing large blocks of gene orthology with rodents, scattered regions with more recent gene family expansions and deletions, and segments of coding and non-coding conservation with the distant fish species Takifugu.
Grimwood
Jane
J
Stanford Human Genome Center, Department of Genetics, Stanford University School of Medicine, 975 California Avenue, Palo Alto, California 94304, USA. jane@shgc.stanford.edu
Gordon
Laurie A
LA
Olsen
Anne
A
Terry
Astrid
A
Schmutz
Jeremy
J
Lamerdin
Jane
J
Hellsten
Uffe
U
Goodstein
David
D
Couronne
Olivier
O
Tran-Gyamfi
Mary
M
Aerts
Andrea
A
Altherr
Michael
M
Ashworth
Linda
L
Bajorek
Eva
E
Black
Stacey
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Branscomb
Elbert
E
Caenepeel
Sean
S
Carrano
Anthony
A
Caoile
Chenier
C
Chan
Yee Man
YM
Christensen
Mari
M
Cleland
Catherine A
CA
Copeland
Alex
A
Dalin
Eileen
E
Dehal
Paramvir
P
Denys
Mirian
M
Detter
John C
JC
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J
Flowers
Dave
D
Fotopulos
Dea
D
Garcia
Carmen
C
Georgescu
Anca M
AM
Glavina
Tijana
T
Gomez
Maria
M
Gonzales
Eidelyn
E
Groza
Matthew
M
Hammon
Nancy
N
Hawkins
Trevor
T
Haydu
Lauren
L
Ho
Isaac
I
Huang
Wayne
W
Israni
Sanjay
S
Jett
Jamie
J
Kadner
Kristen
K
Kimball
Heather
H
Kobayashi
Arthur
A
Larionov
Vladimer
V
Leem
Sun-Hee
SH
Lopez
Frederick
F
Lou
Yunian
Y
Lowry
Steve
S
Malfatti
Stephanie
S
Martinez
Diego
D
McCready
Paula
P
Medina
Catherine
C
Morgan
Jenna
J
Nelson
Kathryn
K
Nolan
Matt
M
Ovcharenko
Ivan
I
Pitluck
Sam
S
Pollard
Martin
M
Popkie
Anthony P
AP
Predki
Paul
P
Quan
Glenda
G
Ramirez
Lucia
L
Rash
Sam
S
Retterer
James
J
Rodriguez
Alex
A
Rogers
Stephanine
S
Salamov
Asaf
A
Salazar
Angelica
A
She
Xinwei
X
Smith
Doug
D
Slezak
Tom
T
Solovyev
Victor
V
Thayer
Nina
N
Tice
Hope
H
Tsai
Ming
M
Ustaszewska
Anna
A
Vo
Nu
N
Wagner
Mark
M
Wheeler
Jeremy
J
Wu
Kevin
K
Xie
Gary
G
Yang
Joan
J
Dubchak
Inna
I
Furey
Terrence S
TS
DeJong
Pieter
P
Dickson
Mark
M
Gordon
David
D
Eichler
Evan E
EE
Pennacchio
Len A
LA
Richardson
Paul
P
Stubbs
Lisa
L
Rokhsar
Daniel S
DS
Myers
Richard M
RM
Rubin
Edward M
EM
Lucas
Susan M
SM
D017398:Alternative Splicing / Q000235:genetics; D000818:Animals; D001482:Base Composition; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D017124:Conserved Sequence / Q000235:genetics; D018899:CpG Islands / Q000235:genetics; D019143:Evolution, Molecular; D020440:Gene Duplication; D005796:Genes / Q000235:genetics*; D005826:Genetics, Medical; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D005810:Multigene Family / Q000235:genetics; D020161:Physical Chromosome Mapping; D011544:Pseudogenes / Q000235:genetics; D017422:Sequence Analysis, DNA