title: The DNA sequence and biology of human chromosome 19.
abstract: Chromosome 19 has the highest gene density of all human chromosomes, more than double the genome-wide average. The large clustered gene families, corresponding high G + C content, CpG islands and density of repetitive DNA indicate a chromosome rich in biological and evolutionary significance. Here we describe 55.8 million base pairs of highly accurate finished sequence representing 99.9% of the euchromatin portion of the chromosome. Manual curation of gene loci reveals 1,461 protein-coding genes and 321 pseudogenes. Among these are genes directly implicated in mendelian disorders, including familial hypercholesterolaemia and insulin-resistant diabetes. Nearly one-quarter of these genes belong to tandemly arranged families, encompassing more than 25% of the chromosome. Comparative analyses show a fascinating picture of conservation and divergence, revealing large blocks of gene orthology with rodents, scattered regions with more recent gene family expansions and deletions, and segments of coding and non-coding conservation with the distant fish species Takifugu.
authors.affiliation: Stanford Human Genome Center, Department of Genetics, Stanford University School of Medicine, 975 California Avenue, Palo Alto, California 94304, USA. jane@shgc.stanford.edu
authors.forename: Jane
authors.initials: J
authors.lastname: Grimwood
authors.forename: Laurie A
authors.initials: LA
authors.lastname: Gordon
authors.forename: Anne
authors.initials: A
authors.lastname: Olsen
authors.forename: Astrid
authors.initials: A
authors.lastname: Terry
authors.forename: Jeremy
authors.initials: J
authors.lastname: Schmutz
authors.forename: Jane
authors.initials: J
authors.lastname: Lamerdin
authors.forename: Uffe
authors.initials: U
authors.lastname: Hellsten
authors.forename: David
authors.initials: D
authors.lastname: Goodstein
authors.forename: Olivier
authors.initials: O
authors.lastname: Couronne
authors.forename: Mary
authors.initials: M
authors.lastname: Tran-Gyamfi
authors.forename: Andrea
authors.initials: A
authors.lastname: Aerts
authors.forename: Michael
authors.initials: M
authors.lastname: Altherr
authors.forename: Linda
authors.initials: L
authors.lastname: Ashworth
authors.forename: Eva
authors.initials: E
authors.lastname: Bajorek
authors.forename: Stacey
authors.initials: S
authors.lastname: Black
authors.forename: Elbert
authors.initials: E
authors.lastname: Branscomb
authors.forename: Sean
authors.initials: S
authors.lastname: Caenepeel
authors.forename: Anthony
authors.initials: A
authors.lastname: Carrano
authors.forename: Chenier
authors.initials: C
authors.lastname: Caoile
authors.forename: Yee Man
authors.initials: YM
authors.lastname: Chan
authors.forename: Mari
authors.initials: M
authors.lastname: Christensen
authors.forename: Catherine A
authors.initials: CA
authors.lastname: Cleland
authors.forename: Alex
authors.initials: A
authors.lastname: Copeland
authors.forename: Eileen
authors.initials: E
authors.lastname: Dalin
authors.forename: Paramvir
authors.initials: P
authors.lastname: Dehal
authors.forename: Mirian
authors.initials: M
authors.lastname: Denys
authors.forename: John C
authors.initials: JC
authors.lastname: Detter
authors.forename: Julio
authors.initials: J
authors.lastname: Escobar
authors.forename: Dave
authors.initials: D
authors.lastname: Flowers
authors.forename: Dea
authors.initials: D
authors.lastname: Fotopulos
authors.forename: Carmen
authors.initials: C
authors.lastname: Garcia
authors.forename: Anca M
authors.initials: AM
authors.lastname: Georgescu
authors.forename: Tijana
authors.initials: T
authors.lastname: Glavina
authors.forename: Maria
authors.initials: M
authors.lastname: Gomez
authors.forename: Eidelyn
authors.initials: E
authors.lastname: Gonzales
authors.forename: Matthew
authors.initials: M
authors.lastname: Groza
authors.forename: Nancy
authors.initials: N
authors.lastname: Hammon
authors.forename: Trevor
authors.initials: T
authors.lastname: Hawkins
authors.forename: Lauren
authors.initials: L
authors.lastname: Haydu
authors.forename: Isaac
authors.initials: I
authors.lastname: Ho
authors.forename: Wayne
authors.initials: W
authors.lastname: Huang
authors.forename: Sanjay
authors.initials: S
authors.lastname: Israni
authors.forename: Jamie
authors.initials: J
authors.lastname: Jett
authors.forename: Kristen
authors.initials: K
authors.lastname: Kadner
authors.forename: Heather
authors.initials: H
authors.lastname: Kimball
authors.forename: Arthur
authors.initials: A
authors.lastname: Kobayashi
authors.forename: Vladimer
authors.initials: V
authors.lastname: Larionov
authors.forename: Sun-Hee
authors.initials: SH
authors.lastname: Leem
authors.forename: Frederick
authors.initials: F
authors.lastname: Lopez
authors.forename: Yunian
authors.initials: Y
authors.lastname: Lou
authors.forename: Steve
authors.initials: S
authors.lastname: Lowry
authors.forename: Stephanie
authors.initials: S
authors.lastname: Malfatti
authors.forename: Diego
authors.initials: D
authors.lastname: Martinez
authors.forename: Paula
authors.initials: P
authors.lastname: McCready
authors.forename: Catherine
authors.initials: C
authors.lastname: Medina
authors.forename: Jenna
authors.initials: J
authors.lastname: Morgan
authors.forename: Kathryn
authors.initials: K
authors.lastname: Nelson
authors.forename: Matt
authors.initials: M
authors.lastname: Nolan
authors.forename: Ivan
authors.initials: I
authors.lastname: Ovcharenko
authors.forename: Sam
authors.initials: S
authors.lastname: Pitluck
authors.forename: Martin
authors.initials: M
authors.lastname: Pollard
authors.forename: Anthony P
authors.initials: AP
authors.lastname: Popkie
authors.forename: Paul
authors.initials: P
authors.lastname: Predki
authors.forename: Glenda
authors.initials: G
authors.lastname: Quan
authors.forename: Lucia
authors.initials: L
authors.lastname: Ramirez
authors.forename: Sam
authors.initials: S
authors.lastname: Rash
authors.forename: James
authors.initials: J
authors.lastname: Retterer
authors.forename: Alex
authors.initials: A
authors.lastname: Rodriguez
authors.forename: Stephanine
authors.initials: S
authors.lastname: Rogers
authors.forename: Asaf
authors.initials: A
authors.lastname: Salamov
authors.forename: Angelica
authors.initials: A
authors.lastname: Salazar
authors.forename: Xinwei
authors.initials: X
authors.lastname: She
authors.forename: Doug
authors.initials: D
authors.lastname: Smith
authors.forename: Tom
authors.initials: T
authors.lastname: Slezak
authors.forename: Victor
authors.initials: V
authors.lastname: Solovyev
authors.forename: Nina
authors.initials: N
authors.lastname: Thayer
authors.forename: Hope
authors.initials: H
authors.lastname: Tice
authors.forename: Ming
authors.initials: M
authors.lastname: Tsai
authors.forename: Anna
authors.initials: A
authors.lastname: Ustaszewska
authors.forename: Nu
authors.initials: N
authors.lastname: Vo
authors.forename: Mark
authors.initials: M
authors.lastname: Wagner
authors.forename: Jeremy
authors.initials: J
authors.lastname: Wheeler
authors.forename: Kevin
authors.initials: K
authors.lastname: Wu
authors.forename: Gary
authors.initials: G
authors.lastname: Xie
authors.forename: Joan
authors.initials: J
authors.lastname: Yang
authors.forename: Inna
authors.initials: I
authors.lastname: Dubchak
authors.forename: Terrence S
authors.initials: TS
authors.lastname: Furey
authors.forename: Pieter
authors.initials: P
authors.lastname: DeJong
authors.forename: Mark
authors.initials: M
authors.lastname: Dickson
authors.forename: David
authors.initials: D
authors.lastname: Gordon
authors.forename: Evan E
authors.initials: EE
authors.lastname: Eichler
authors.forename: Len A
authors.initials: LA
authors.lastname: Pennacchio
authors.forename: Paul
authors.initials: P
authors.lastname: Richardson
authors.forename: Lisa
authors.initials: L
authors.lastname: Stubbs
authors.forename: Daniel S
authors.initials: DS
authors.lastname: Rokhsar
authors.forename: Richard M
authors.initials: RM
authors.lastname: Myers
authors.forename: Edward M
authors.initials: EM
authors.lastname: Rubin
authors.forename: Susan M
authors.initials: SM
authors.lastname: Lucas
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D000818:Animals; D001482:Base Composition; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D017124:Conserved Sequence / Q000235:genetics; D018899:CpG Islands / Q000235:genetics; D019143:Evolution, Molecular; D020440:Gene Duplication; D005796:Genes / Q000235:genetics*; D005826:Genetics, Medical; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D005810:Multigene Family / Q000235:genetics; D020161:Physical Chromosome Mapping; D011544:Pseudogenes / Q000235:genetics; D017422:Sequence Analysis, DNA