The DNA sequence and comparative analysis of human chromosome 5.
Chromosome 5 is one of the largest human chromosomes and contains numerous intrachromosomal duplications, yet it has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of noncoding conservation with non-mammalian vertebrates, suggesting that they are functionally constrained. In total, we compiled 177.7 million base pairs of highly accurate finished sequence containing 923 manually curated protein-coding genes including the protocadherin and interleukin gene families. We also completely sequenced versions of the large chromosome-5-specific internal duplications. These duplications are very recent evolutionary events and probably have a mechanistic role in human physiological variation, as deletions in these regions are the cause of debilitating disorders including spinal muscular atrophy.
Schmutz
Jeremy
J
Stanford Human Genome Center, Department of Genetics, Stanford University School of Medicine, 975 California Ave, Palo Alto, California 94304, USA. jeremy@shgc.stanford.edu
Martin
Joel
J
Terry
Astrid
A
Couronne
Olivier
O
Grimwood
Jane
J
Lowry
Steve
S
Gordon
Laurie A
LA
Scott
Duncan
D
Xie
Gary
G
Huang
Wayne
W
Hellsten
Uffe
U
Tran-Gyamfi
Mary
M
She
Xinwei
X
Prabhakar
Shyam
S
Aerts
Andrea
A
Altherr
Michael
M
Bajorek
Eva
E
Black
Stacey
S
Branscomb
Elbert
E
Caoile
Chenier
C
Challacombe
Jean F
JF
Chan
Yee Man
YM
Denys
Mirian
M
Detter
John C
JC
Escobar
Julio
J
Flowers
Dave
D
Fotopulos
Dea
D
Glavina
Tijana
T
Gomez
Maria
M
Gonzales
Eidelyn
E
Goodstein
David
D
Grigoriev
Igor
I
Groza
Matthew
M
Hammon
Nancy
N
Hawkins
Trevor
T
Haydu
Lauren
L
Israni
Sanjay
S
Jett
Jamie
J
Kadner
Kristen
K
Kimball
Heather
H
Kobayashi
Arthur
A
Lopez
Frederick
F
Lou
Yunian
Y
Martinez
Diego
D
Medina
Catherine
C
Morgan
Jenna
J
Nandkeshwar
Richard
R
Noonan
James P
JP
Pitluck
Sam
S
Pollard
Martin
M
Predki
Paul
P
Priest
James
J
Ramirez
Lucia
L
Retterer
James
J
Rodriguez
Alex
A
Rogers
Stephanie
S
Salamov
Asaf
A
Salazar
Angelica
A
Thayer
Nina
N
Tice
Hope
H
Tsai
Ming
M
Ustaszewska
Anna
A
Vo
Nu
N
Wheeler
Jeremy
J
Wu
Kevin
K
Yang
Joan
J
Dickson
Mark
M
Cheng
Jan-Fang
JF
Eichler
Evan E
EE
Olsen
Anne
A
Pennacchio
Len A
LA
Rokhsar
Daniel S
DS
Richardson
Paul
P
Lucas
Susan M
SM
Myers
Richard M
RM
Rubin
Edward M
EM
D000818:Animals; D001482:Base Composition; D015820:Cadherins / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D017124:Conserved Sequence / Q000235:genetics; D020440:Gene Duplication; D005796:Genes / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000235:genetics; D023281:Genomics; D006801:Humans; D007378:Interleukins / Q000235:genetics; D008969:Molecular Sequence Data; D009134:Muscular Atrophy, Spinal / Q000235:genetics; D002679:Pan troglodytes / Q000235:genetics; D020161:Physical Chromosome Mapping; D011544:Pseudogenes / Q000235:genetics; D017422:Sequence Analysis, DNA; D026801:Synteny / Q000235:genetics; D014714:Vertebrates / Q000235:genetics
D015820:Cadherins; D007378:Interleukins