title: DNA sequence and analysis of human chromosome 18.
abstract: Chromosome 18 appears to have the lowest gene density of any human chromosome and is one of only three chromosomes for which trisomic individuals survive to term. There are also a number of genetic disorders stemming from chromosome 18 trisomy and aneuploidy. Here we report the finished sequence and gene annotation of human chromosome 18, which will allow a better understanding of the normal and disease biology of this chromosome. Despite the low density of protein-coding genes on chromosome 18, we find that the proportion of non-protein-coding sequences evolutionarily conserved among mammals is close to the genome-wide average. Extending this analysis to the entire human genome, we find that the density of conserved non-protein-coding sequences is largely uncorrelated with gene density. This has important implications for the nature and roles of non-protein-coding sequence elements.
authors.affiliation: Broad Institute of MIT and Harvard, 320 Charles Street, Cambridge, Massachusetts 02141, USA. chad@broad.mit.edu
authors.forename: Chad
authors.initials: C
authors.lastname: Nusbaum
authors.forename: Michael C
authors.initials: MC
authors.lastname: Zody
authors.forename: Mark L
authors.initials: ML
authors.lastname: Borowsky
authors.forename: Michael
authors.initials: M
authors.lastname: Kamal
authors.forename: Chinnappa D
authors.initials: CD
authors.lastname: Kodira
authors.forename: Todd D
authors.initials: TD
authors.lastname: Taylor
authors.forename: Charles A
authors.initials: CA
authors.lastname: Whittaker
authors.forename: Jean L
authors.initials: JL
authors.lastname: Chang
authors.forename: Christina A
authors.initials: CA
authors.lastname: Cuomo
authors.forename: Ken
authors.initials: K
authors.lastname: Dewar
authors.forename: Michael G
authors.initials: MG
authors.lastname: FitzGerald
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Yang
authors.forename: Amr
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authors.lastname: Abouelleil
authors.forename: Nicole R
authors.initials: NR
authors.lastname: Allen
authors.forename: Scott
authors.initials: S
authors.lastname: Anderson
authors.forename: Toby
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authors.lastname: Bloom
authors.forename: Boris
authors.initials: B
authors.lastname: Bugalter
authors.forename: Jonathan
authors.initials: J
authors.lastname: Butler
authors.forename: April
authors.initials: A
authors.lastname: Cook
authors.forename: David
authors.initials: D
authors.lastname: DeCaprio
authors.forename: Reinhard
authors.initials: R
authors.lastname: Engels
authors.forename: Manuel
authors.initials: M
authors.lastname: Garber
authors.forename: Andreas
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authors.lastname: Gnirke
authors.forename: Nabil
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authors.lastname: Hafez
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Hall
authors.forename: Catherine Hosage
authors.initials: CH
authors.lastname: Norman
authors.forename: Takehiko
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authors.lastname: Itoh
authors.forename: David B
authors.initials: DB
authors.lastname: Jaffe
authors.forename: Yoko
authors.initials: Y
authors.lastname: Kuroki
authors.forename: Jessica
authors.initials: J
authors.lastname: Lehoczky
authors.forename: Annie
authors.initials: A
authors.lastname: Lui
authors.forename: Pendexter
authors.initials: P
authors.lastname: Macdonald
authors.forename: Evan
authors.initials: E
authors.lastname: Mauceli
authors.forename: Tarjei S
authors.initials: TS
authors.lastname: Mikkelsen
authors.forename: Jerome W
authors.initials: JW
authors.lastname: Naylor
authors.forename: Robert
authors.initials: R
authors.lastname: Nicol
authors.forename: Cindy
authors.initials: C
authors.lastname: Nguyen
authors.forename: Hideki
authors.initials: H
authors.lastname: Noguchi
authors.forename: Sinéad B
authors.initials: SB
authors.lastname: O'Leary
authors.forename: Keith
authors.initials: K
authors.lastname: O'Neill
authors.forename: Bruno
authors.initials: B
authors.lastname: Piqani
authors.forename: Cherylyn L
authors.initials: CL
authors.lastname: Smith
authors.forename: Jessica A
authors.initials: JA
authors.lastname: Talamas
authors.forename: Kerri
authors.initials: K
authors.lastname: Topham
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Totoki
authors.forename: Atsushi
authors.initials: A
authors.lastname: Toyoda
authors.forename: Hester M
authors.initials: HM
authors.lastname: Wain
authors.forename: Sarah K
authors.initials: SK
authors.lastname: Young
authors.forename: Qiandong
authors.initials: Q
authors.lastname: Zeng
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Zimmer
authors.forename: Asao
authors.initials: A
authors.lastname: Fujiyama
authors.forename: Masahira
authors.initials: M
authors.lastname: Hattori
authors.forename: Bruce W
authors.initials: BW
authors.lastname: Birren
authors.forename: Yoshiyuki
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authors.lastname: Sakaki
authors.forename: Eric S
authors.initials: ES
authors.lastname: Lander
mesh_terms: D000782:Aneuploidy; D000818:Animals; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D017124:Conserved Sequence / Q000235:genetics; D018899:CpG Islands / Q000235:genetics; D004247:DNA / Q000235:genetics*; D005091:Exons / Q000235:genetics; D020224:Expressed Sequence Tags; D005796:Genes / Q000235:genetics; D015894:Genome, Human; D006801:Humans; D007438:Introns / Q000235:genetics; D008969:Molecular Sequence Data; D017422:Sequence Analysis, DNA; D026801:Synteny
chemical_list: D004247:DNA