Human chromosome 7: DNA sequence and biology.
DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate genes for developmental diseases including autism.
Scherer
Stephen W
SW
Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8. steve@genet.sickkids.on.ca
Cheung
Joseph
J
MacDonald
Jeffrey R
JR
Osborne
Lucy R
LR
Nakabayashi
Kazuhiko
K
Herbrick
Jo-Anne
JA
Carson
Andrew R
AR
Parker-Katiraee
Layla
L
Skaug
Jennifer
J
Khaja
Razi
R
Zhang
Junjun
J
Hudek
Alexander K
AK
Li
Martin
M
Haddad
May
M
Duggan
Gavin E
GE
Fernandez
Bridget A
BA
Kanematsu
Emiko
E
Gentles
Simone
S
Christopoulos
Constantine C
CC
Choufani
Sanaa
S
Kwasnicka
Dorota
D
Zheng
Xiangqun H
XH
Lai
Zhongwu
Z
Nusskern
Deborah
D
Zhang
Qing
Q
Gu
Zhiping
Z
Lu
Fu
F
Zeesman
Susan
S
Nowaczyk
Malgorzata J
MJ
Teshima
Ikuko
I
Chitayat
David
D
Shuman
Cheryl
C
Weksberg
Rosanna
R
Zackai
Elaine H
EH
Grebe
Theresa A
TA
Cox
Sarah R
SR
Kirkpatrick
Susan J
SJ
Rahman
Nazneen
N
Friedman
Jan M
JM
Heng
Henry H Q
HH
Pelicci
Pier Giuseppe
PG
Lo-Coco
Francesco
F
Belloni
Elena
E
Shaffer
Lisa G
LG
Pober
Barbara
B
Morton
Cynthia C
CC
Gusella
James F
JF
Bruns
Gail A P
GA
Korf
Bruce R
BR
Quade
Bradley J
BJ
Ligon
Azra H
AH
Ferguson
Heather
H
Higgins
Anne W
AW
Leach
Natalia T
NT
Herrick
Steven R
SR
Lemyre
Emmanuelle
E
Farra
Chantal G
CG
Kim
Hyung-Goo
HG
Summers
Anne M
AM
Gripp
Karen W
KW
Roberts
Wendy
W
Szatmari
Peter
P
Winsor
Elizabeth J T
EJ
Grzeschik
Karl-Heinz
KH
Teebi
Ahmed
A
Minassian
Berge A
BA
Kere
Juha
J
Armengol
Lluis
L
Pujana
Miguel Angel
MA
Estivill
Xavier
X
Wilson
Michael D
MD
Koop
Ben F
BF
Tosi
Sabrina
S
Moore
Gudrun E
GE
Boright
Andrew P
AP
Zlotorynski
Eitan
E
Kerem
Batsheva
B
Kroisel
Peter M
PM
Petek
Erwin
E
Oscier
David G
DG
Mould
Sarah J
SJ
Döhner
Hartmut
H
Döhner
Konstanze
K
Rommens
Johanna M
JM
Vincent
John B
JB
Venter
J Craig
JC
Li
Peter W
PW
Mural
Richard J
RJ
Adams
Mark D
MD
Tsui
Lap-Chee
LC
D000818:Animals; D001321:Autistic Disorder / Q000235:genetics; D002869:Chromosome Aberrations; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D019295:Computational Biology; D000013:Congenital Abnormalities / Q000235:genetics; D018899:CpG Islands; D018076:DNA, Complementary; D030541:Databases, Genetic; D022041:Euchromatin / Q000235:genetics; D020224:Expressed Sequence Tags; D020440:Gene Duplication; D005807:Genes, Overlapping; D030342:Genetic Diseases, Inborn / Q000235:genetics; D018392:Genomic Imprinting; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D017880:Limb Deformities, Congenital / Q000235:genetics; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D009369:Neoplasms / Q000235:genetics; D011544:Pseudogenes; D012313:RNA / Q000235:genetics; D018626:Retroelements; D017422:Sequence Analysis, DNA; D018980:Williams Syndrome / Q000235:genetics
D018076:DNA, Complementary; D022041:Euchromatin; D018626:Retroelements; D012313:RNA