title: The DNA sequence of human chromosome 21.
abstract: Chromosome 21 is the smallest human autosome. An extra copy of chromosome 21 causes Down syndrome, the most frequent genetic cause of significant mental retardation, which affects up to 1 in 700 live births. Several anonymous loci for monogenic disorders and predispositions for common complex disorders have also been mapped to this chromosome, and loss of heterozygosity has been observed in regions associated with solid tumours. Here we report the sequence and gene catalogue of the long arm of chromosome 21. We have sequenced 33,546,361 base pairs (bp) of DNA with very high accuracy, the largest contig being 25,491,867 bp. Only three small clone gaps and seven sequencing gaps remain, comprising about 100 kilobases. Thus, we achieved 99.7% coverage of 21q. We also sequenced 281,116 bp from the short arm. The structural features identified include duplications that are probably involved in chromosomal abnormalities and repeat structures in the telomeric and pericentromeric regions. Analysis of the chromosome revealed 127 known genes, 98 predicted genes and 59 pseudogenes.
authors.affiliation: RIKEN, Genomic Sciences Center, Sagamihara, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Hattori
authors.forename: A
authors.initials: A
authors.lastname: Fujiyama
authors.forename: T D
authors.initials: TD
authors.lastname: Taylor
authors.forename: H
authors.initials: H
authors.lastname: Watanabe
authors.forename: T
authors.initials: T
authors.lastname: Yada
authors.forename: H S
authors.initials: HS
authors.lastname: Park
authors.forename: A
authors.initials: A
authors.lastname: Toyoda
authors.forename: K
authors.initials: K
authors.lastname: Ishii
authors.forename: Y
authors.initials: Y
authors.lastname: Totoki
authors.forename: D K
authors.initials: DK
authors.lastname: Choi
authors.forename: Y
authors.initials: Y
authors.lastname: Groner
authors.forename: E
authors.initials: E
authors.lastname: Soeda
authors.forename: M
authors.initials: M
authors.lastname: Ohki
authors.forename: T
authors.initials: T
authors.lastname: Takagi
authors.forename: Y
authors.initials: Y
authors.lastname: Sakaki
authors.forename: S
authors.initials: S
authors.lastname: Taudien
authors.forename: K
authors.initials: K
authors.lastname: Blechschmidt
authors.forename: A
authors.initials: A
authors.lastname: Polley
authors.forename: U
authors.initials: U
authors.lastname: Menzel
authors.forename: J
authors.initials: J
authors.lastname: Delabar
authors.forename: K
authors.initials: K
authors.lastname: Kumpf
authors.forename: R
authors.initials: R
authors.lastname: Lehmann
authors.forename: D
authors.initials: D
authors.lastname: Patterson
authors.forename: K
authors.initials: K
authors.lastname: Reichwald
authors.forename: A
authors.initials: A
authors.lastname: Rump
authors.forename: M
authors.initials: M
authors.lastname: Schillhabel
authors.forename: A
authors.initials: A
authors.lastname: Schudy
authors.forename: W
authors.initials: W
authors.lastname: Zimmermann
authors.forename: A
authors.initials: A
authors.lastname: Rosenthal
authors.forename: J
authors.initials: J
authors.lastname: Kudoh
authors.forename: K
authors.initials: K
authors.lastname: Schibuya
authors.forename: K
authors.initials: K
authors.lastname: Kawasaki
authors.forename: S
authors.initials: S
authors.lastname: Asakawa
authors.forename: A
authors.initials: A
authors.lastname: Shintani
authors.forename: T
authors.initials: T
authors.lastname: Sasaki
authors.forename: K
authors.initials: K
authors.lastname: Nagamine
authors.forename: S
authors.initials: S
authors.lastname: Mitsuyama
authors.forename: S E
authors.initials: SE
authors.lastname: Antonarakis
authors.forename: S
authors.initials: S
authors.lastname: Minoshima
authors.forename: N
authors.initials: N
authors.lastname: Shimizu
authors.forename: G
authors.initials: G
authors.lastname: Nordsiek
authors.forename: K
authors.initials: K
authors.lastname: Hornischer
authors.forename: P
authors.initials: P
authors.lastname: Brant
authors.forename: M
authors.initials: M
authors.lastname: Scharfe
authors.forename: O
authors.initials: O
authors.lastname: Schon
authors.forename: A
authors.initials: A
authors.lastname: Desario
authors.forename: J
authors.initials: J
authors.lastname: Reichelt
authors.forename: G
authors.initials: G
authors.lastname: Kauer
authors.forename: H
authors.initials: H
authors.lastname: Blocker
authors.forename: J
authors.initials: J
authors.lastname: Ramser
authors.forename: A
authors.initials: A
authors.lastname: Beck
authors.forename: S
authors.initials: S
authors.lastname: Klages
authors.forename: S
authors.initials: S
authors.lastname: Hennig
authors.forename: L
authors.initials: L
authors.lastname: Riesselmann
authors.forename: E
authors.initials: E
authors.lastname: Dagand
authors.forename: T
authors.initials: T
authors.lastname: Haaf
authors.forename: S
authors.initials: S
authors.lastname: Wehrmeyer
authors.forename: K
authors.initials: K
authors.lastname: Borzym
authors.forename: K
authors.initials: K
authors.lastname: Gardiner
authors.forename: D
authors.initials: D
authors.lastname: Nizetic
authors.forename: F
authors.initials: F
authors.lastname: Francis
authors.forename: H
authors.initials: H
authors.lastname: Lehrach
authors.forename: R
authors.initials: R
authors.lastname: Reinhardt
authors.forename: M L
authors.initials: ML
authors.lastname: Yaspo
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21; D004247:DNA; D004314:Down Syndrome / Q000235:genetics; D005796:Genes; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D017422:Sequence Analysis, DNA
chemical_list: D004247:DNA