title: The DNA sequence of human chromosome 7.
abstract: Human chromosome 7 has historically received prominent attention in the human genetics community, primarily related to the search for the cystic fibrosis gene and the frequent cytogenetic changes associated with various forms of cancer. Here we present more than 153 million base pairs representing 99.4% of the euchromatic sequence of chromosome 7, the first metacentric chromosome completed so far. The sequence has excellent concordance with previously established physical and genetic maps, and it exhibits an unusual amount of segmentally duplicated sequence (8.2%), with marked differences between the two arms. Our initial analyses have identified 1,150 protein-coding genes, 605 of which have been confirmed by complementary DNA sequences, and an additional 941 pseudogenes. Of genes confirmed by transcript sequences, some are polymorphic for mutations that disrupt the reading frame.
authors.affiliation: Genome Sequencing Center, Washington University School of Medicine, Campus Box 8501, 4444 Forest Park Avenue, St Louis, Missouri 63108, USA.
authors.forename: Ladeana W
authors.initials: LW
authors.lastname: Hillier
authors.forename: Robert S
authors.initials: RS
authors.lastname: Fulton
authors.forename: Lucinda A
authors.initials: LA
authors.lastname: Fulton
authors.forename: Tina A
authors.initials: TA
authors.lastname: Graves
authors.forename: Kymberlie H
authors.initials: KH
authors.lastname: Pepin
authors.forename: Caryn
authors.initials: C
authors.lastname: Wagner-McPherson
authors.forename: Dan
authors.initials: D
authors.lastname: Layman
authors.forename: Jason
authors.initials: J
authors.lastname: Maas
authors.forename: Sara
authors.initials: S
authors.lastname: Jaeger
authors.forename: Rebecca
authors.initials: R
authors.lastname: Walker
authors.forename: Kristine
authors.initials: K
authors.lastname: Wylie
authors.forename: Mandeep
authors.initials: M
authors.lastname: Sekhon
authors.forename: Michael C
authors.initials: MC
authors.lastname: Becker
authors.forename: Michelle D
authors.initials: MD
authors.lastname: O'Laughlin
authors.forename: Mark E
authors.initials: ME
authors.lastname: Schaller
authors.forename: Ginger A
authors.initials: GA
authors.lastname: Fewell
authors.forename: Kimberly D
authors.initials: KD
authors.lastname: Delehaunty
authors.forename: Tracie L
authors.initials: TL
authors.lastname: Miner
authors.forename: William E
authors.initials: WE
authors.lastname: Nash
authors.forename: Matt
authors.initials: M
authors.lastname: Cordes
authors.forename: Hui
authors.initials: H
authors.lastname: Du
authors.forename: Hui
authors.initials: H
authors.lastname: Sun
authors.forename: Jennifer
authors.initials: J
authors.lastname: Edwards
authors.forename: Holland
authors.initials: H
authors.lastname: Bradshaw-Cordum
authors.forename: Johar
authors.initials: J
authors.lastname: Ali
authors.forename: Stephanie
authors.initials: S
authors.lastname: Andrews
authors.forename: Amber
authors.initials: A
authors.lastname: Isak
authors.forename: Andrew
authors.initials: A
authors.lastname: Vanbrunt
authors.forename: Christine
authors.initials: C
authors.lastname: Nguyen
authors.forename: Feiyu
authors.initials: F
authors.lastname: Du
authors.forename: Betty
authors.initials: B
authors.lastname: Lamar
authors.forename: Laura
authors.initials: L
authors.lastname: Courtney
authors.forename: Joelle
authors.initials: J
authors.lastname: Kalicki
authors.forename: Philip
authors.initials: P
authors.lastname: Ozersky
authors.forename: Lauren
authors.initials: L
authors.lastname: Bielicki
authors.forename: Kelsi
authors.initials: K
authors.lastname: Scott
authors.forename: Andrea
authors.initials: A
authors.lastname: Holmes
authors.forename: Richard
authors.initials: R
authors.lastname: Harkins
authors.forename: Anthony
authors.initials: A
authors.lastname: Harris
authors.forename: Cynthia Madsen
authors.initials: CM
authors.lastname: Strong
authors.forename: Shunfang
authors.initials: S
authors.lastname: Hou
authors.forename: Chad
authors.initials: C
authors.lastname: Tomlinson
authors.forename: Sara
authors.initials: S
authors.lastname: Dauphin-Kohlberg
authors.forename: Amy
authors.initials: A
authors.lastname: Kozlowicz-Reilly
authors.forename: Shawn
authors.initials: S
authors.lastname: Leonard
authors.forename: Theresa
authors.initials: T
authors.lastname: Rohlfing
authors.forename: Susan M
authors.initials: SM
authors.lastname: Rock
authors.forename: Aye-Mon
authors.initials: AM
authors.lastname: Tin-Wollam
authors.forename: Amanda
authors.initials: A
authors.lastname: Abbott
authors.forename: Patrick
authors.initials: P
authors.lastname: Minx
authors.forename: Rachel
authors.initials: R
authors.lastname: Maupin
authors.forename: Catrina
authors.initials: C
authors.lastname: Strowmatt
authors.forename: Phil
authors.initials: P
authors.lastname: Latreille
authors.forename: Nancy
authors.initials: N
authors.lastname: Miller
authors.forename: Doug
authors.initials: D
authors.lastname: Johnson
authors.forename: Jennifer
authors.initials: J
authors.lastname: Murray
authors.forename: Jeffrey P
authors.initials: JP
authors.lastname: Woessner
authors.forename: Michael C
authors.initials: MC
authors.lastname: Wendl
authors.forename: Shiaw-Pyng
authors.initials: SP
authors.lastname: Yang
authors.forename: Brian R
authors.initials: BR
authors.lastname: Schultz
authors.forename: John W
authors.initials: JW
authors.lastname: Wallis
authors.forename: John
authors.initials: J
authors.lastname: Spieth
authors.forename: Tamberlyn A
authors.initials: TA
authors.lastname: Bieri
authors.forename: Joanne O
authors.initials: JO
authors.lastname: Nelson
authors.forename: Nicolas
authors.initials: N
authors.lastname: Berkowicz
authors.forename: Patricia E
authors.initials: PE
authors.lastname: Wohldmann
authors.forename: Lisa L
authors.initials: LL
authors.lastname: Cook
authors.forename: Matthew T
authors.initials: MT
authors.lastname: Hickenbotham
authors.forename: James
authors.initials: J
authors.lastname: Eldred
authors.forename: Donald
authors.initials: D
authors.lastname: Williams
authors.forename: Joseph A
authors.initials: JA
authors.lastname: Bedell
authors.forename: Elaine R
authors.initials: ER
authors.lastname: Mardis
authors.forename: Sandra W
authors.initials: SW
authors.lastname: Clifton
authors.forename: Stephanie L
authors.initials: SL
authors.lastname: Chissoe
authors.forename: Marco A
authors.initials: MA
authors.lastname: Marra
authors.forename: Christopher
authors.initials: C
authors.lastname: Raymond
authors.forename: Eric
authors.initials: E
authors.lastname: Haugen
authors.forename: Will
authors.initials: W
authors.lastname: Gillett
authors.forename: Yang
authors.initials: Y
authors.lastname: Zhou
authors.forename: Rose
authors.initials: R
authors.lastname: James
authors.forename: Karen
authors.initials: K
authors.lastname: Phelps
authors.forename: Shawn
authors.initials: S
authors.lastname: Iadanoto
authors.forename: Kerry
authors.initials: K
authors.lastname: Bubb
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Simms
authors.forename: Ruth
authors.initials: R
authors.lastname: Levy
authors.forename: James
authors.initials: J
authors.lastname: Clendenning
authors.forename: Rajinder
authors.initials: R
authors.lastname: Kaul
authors.forename: W James
authors.initials: WJ
authors.lastname: Kent
authors.forename: Terrence S
authors.initials: TS
authors.lastname: Furey
authors.forename: Robert A
authors.initials: RA
authors.lastname: Baertsch
authors.forename: Michael R
authors.initials: MR
authors.lastname: Brent
authors.forename: Evan
authors.initials: E
authors.lastname: Keibler
authors.forename: Paul
authors.initials: P
authors.lastname: Flicek
authors.forename: Peer
authors.initials: P
authors.lastname: Bork
authors.forename: Mikita
authors.initials: M
authors.lastname: Suyama
authors.forename: Jeffrey A
authors.initials: JA
authors.lastname: Bailey
authors.forename: Matthew E
authors.initials: ME
authors.lastname: Portnoy
authors.forename: David
authors.initials: D
authors.lastname: Torrents
authors.forename: Asif T
authors.initials: AT
authors.lastname: Chinwalla
authors.forename: Warren R
authors.initials: WR
authors.lastname: Gish
authors.forename: Sean R
authors.initials: SR
authors.lastname: Eddy
authors.forename: John D
authors.initials: JD
authors.lastname: McPherson
authors.forename: Maynard V
authors.initials: MV
authors.lastname: Olson
authors.forename: Evan E
authors.initials: EE
authors.lastname: Eichler
authors.forename: Eric D
authors.initials: ED
authors.lastname: Green
authors.forename: Robert H
authors.initials: RH
authors.lastname: Waterston
authors.forename: Richard K
authors.initials: RK
authors.lastname: Wilson
mesh_terms: D000818:Animals; D001483:Base Sequence; D002897:Chromosomes, Human, Pair 7; D020440:Gene Duplication; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D020161:Physical Chromosome Mapping; D011506:Proteins / Q000235:genetics; D011544:Pseudogenes; D022661:RNA, Untranslated; D017422:Sequence Analysis, DNA; D013045:Species Specificity; D018980:Williams Syndrome / Q000235:genetics
chemical_list: D011506:Proteins; D022661:RNA, Untranslated