title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
abstract: Chromosome 17 is unusual among the human chromosomes in many respects. It is the largest human autosome with orthology to only a single mouse chromosome, mapping entirely to the distal half of mouse chromosome 11. Chromosome 17 is rich in protein-coding genes, having the second highest gene density in the genome. It is also enriched in segmental duplications, ranking third in density among the autosomes. Here we report a finished sequence for human chromosome 17, as well as a structural comparison with the finished sequence for mouse chromosome 11, the first finished mouse chromosome. Comparison of the orthologous regions reveals striking differences. In contrast to the typical pattern seen in mammalian evolution, the human sequence has undergone extensive intrachromosomal rearrangement, whereas the mouse sequence has been remarkably stable. Moreover, although the human sequence has a high density of segmental duplication, the mouse sequence has a very low density. Notably, these segmental duplications correspond closely to the sites of structural rearrangement, demonstrating a link between duplication and rearrangement. Examination of the main classes of duplicated segments provides insight into the dynamics underlying expansion of chromosome-specific, low-copy repeats in the human genome.
authors.affiliation: Broad Institute of MIT and Harvard, 7 Cambridge Center, Massachusetts 02142, USA.
authors.forename: Michael C
authors.initials: MC
authors.lastname: Zody
authors.forename: Manuel
authors.initials: M
authors.lastname: Garber
authors.forename: David J
authors.initials: DJ
authors.lastname: Adams
authors.forename: Ted
authors.initials: T
authors.lastname: Sharpe
authors.forename: Jennifer
authors.initials: J
authors.lastname: Harrow
authors.forename: James R
authors.initials: JR
authors.lastname: Lupski
authors.forename: Christine
authors.initials: C
authors.lastname: Nicholson
authors.forename: Steven M
authors.initials: SM
authors.lastname: Searle
authors.forename: Laurens
authors.initials: L
authors.lastname: Wilming
authors.forename: Sarah K
authors.initials: SK
authors.lastname: Young
authors.forename: Amr
authors.initials: A
authors.lastname: Abouelleil
authors.forename: Nicole R
authors.initials: NR
authors.lastname: Allen
authors.forename: Weimin
authors.initials: W
authors.lastname: Bi
authors.forename: Toby
authors.initials: T
authors.lastname: Bloom
authors.forename: Mark L
authors.initials: ML
authors.lastname: Borowsky
authors.forename: Boris E
authors.initials: BE
authors.lastname: Bugalter
authors.forename: Jonathan
authors.initials: J
authors.lastname: Butler
authors.forename: Jean L
authors.initials: JL
authors.lastname: Chang
authors.forename: Chao-Kung
authors.initials: CK
authors.lastname: Chen
authors.forename: April
authors.initials: A
authors.lastname: Cook
authors.forename: Benjamin
authors.initials: B
authors.lastname: Corum
authors.forename: Christina A
authors.initials: CA
authors.lastname: Cuomo
authors.forename: Pieter J
authors.initials: PJ
authors.lastname: de Jong
authors.forename: David
authors.initials: D
authors.lastname: DeCaprio
authors.forename: Ken
authors.initials: K
authors.lastname: Dewar
authors.forename: Michael
authors.initials: M
authors.lastname: FitzGerald
authors.forename: James
authors.initials: J
authors.lastname: Gilbert
authors.forename: Richard
authors.initials: R
authors.lastname: Gibson
authors.forename: Sante
authors.initials: S
authors.lastname: Gnerre
authors.forename: Steven
authors.initials: S
authors.lastname: Goldstein
authors.forename: Darren V
authors.initials: DV
authors.lastname: Grafham
authors.forename: Russell
authors.initials: R
authors.lastname: Grocock
authors.forename: Nabil
authors.initials: N
authors.lastname: Hafez
authors.forename: Daniel S
authors.initials: DS
authors.lastname: Hagopian
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Hart
authors.forename: Catherine Hosage
authors.initials: CH
authors.lastname: Norman
authors.forename: Sean
authors.initials: S
authors.lastname: Humphray
authors.forename: David B
authors.initials: DB
authors.lastname: Jaffe
authors.forename: Matt
authors.initials: M
authors.lastname: Jones
authors.forename: Michael
authors.initials: M
authors.lastname: Kamal
authors.forename: Varsha K
authors.initials: VK
authors.lastname: Khodiyar
authors.forename: Kurt
authors.initials: K
authors.lastname: LaButti
authors.forename: Gavin
authors.initials: G
authors.lastname: Laird
authors.forename: Jessica
authors.initials: J
authors.lastname: Lehoczky
authors.forename: Xiaohong
authors.initials: X
authors.lastname: Liu
authors.forename: Tashi
authors.initials: T
authors.lastname: Lokyitsang
authors.forename: Jane
authors.initials: J
authors.lastname: Loveland
authors.forename: Annie
authors.initials: A
authors.lastname: Lui
authors.forename: Pendexter
authors.initials: P
authors.lastname: Macdonald
authors.forename: John E
authors.initials: JE
authors.lastname: Major
authors.forename: Lucy
authors.initials: L
authors.lastname: Matthews
authors.forename: Evan
authors.initials: E
authors.lastname: Mauceli
authors.forename: Steven A
authors.initials: SA
authors.lastname: McCarroll
authors.forename: Atanas H
authors.initials: AH
authors.lastname: Mihalev
authors.forename: Jonathan
authors.initials: J
authors.lastname: Mudge
authors.forename: Cindy
authors.initials: C
authors.lastname: Nguyen
authors.forename: Robert
authors.initials: R
authors.lastname: Nicol
authors.forename: Sinéad B
authors.initials: SB
authors.lastname: O'Leary
authors.forename: Kazutoyo
authors.initials: K
authors.lastname: Osoegawa
authors.forename: David C
authors.initials: DC
authors.lastname: Schwartz
authors.forename: Charles
authors.initials: C
authors.lastname: Shaw-Smith
authors.forename: Pawel
authors.initials: P
authors.lastname: Stankiewicz
authors.forename: Charles
authors.initials: C
authors.lastname: Steward
authors.forename: David
authors.initials: D
authors.lastname: Swarbreck
authors.forename: Vijay
authors.initials: V
authors.lastname: Venkataraman
authors.forename: Charles A
authors.initials: CA
authors.lastname: Whittaker
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Yang
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Zimmer
authors.forename: Allan
authors.initials: A
authors.lastname: Bradley
authors.forename: Tim
authors.initials: T
authors.lastname: Hubbard
authors.forename: Bruce W
authors.initials: BW
authors.lastname: Birren
authors.forename: Jane
authors.initials: J
authors.lastname: Rogers
authors.forename: Eric S
authors.initials: ES
authors.lastname: Lander
authors.forename: Chad
authors.initials: C
authors.lastname: Nusbaum
mesh_terms: D000818:Animals; D001482:Base Composition; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D019143:Evolution, Molecular; D020440:Gene Duplication; D006801:Humans; D020084:Long Interspersed Nucleotide Elements / Q000235:genetics; D051379:Mice; D017422:Sequence Analysis, DNA; D020086:Short Interspersed Nucleotide Elements / Q000235:genetics; D026801:Synteny / Q000235:genetics