The DNA sequence of human chromosome 21.

Article Details


Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, Totoki Y, Choi DK, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, Schibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Hornischer K, Brant P, Scharfe M, Schon O, Desario A, Reichelt J, Kauer G, Blocker H, Ramser J, Beck A, Klages S, Hennig S, Riesselmann L, Dagand E, Haaf T, Wehrmeyer S, Borzym K, Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R, Yaspo ML

The DNA sequence of human chromosome 21.

Nature. 2000 May 18;405(6784):311-9.

PubMed ID
10830953 [ View in PubMed

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.

DrugBank Data that Cites this Article

NameUniProt ID
NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrialP56181Details
Pyridoxal kinaseO00764Details
Biotin--protein ligaseP50747Details
Interferon alpha/beta receptor 2P48551Details
Interferon alpha/beta receptor 1P17181Details
Integrin beta-2P05107Details
ATP-binding cassette sub-family G member 1P45844Details
Protein S100-BP04271Details
Lanosterol synthaseP48449Details
Superoxide dismutase [Cu-Zn]P00441Details
Carbonyl reductase [NADPH] 1P16152Details
High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9AO76083Details
Amyloid beta A4 proteinP05067Details
A disintegrin and metalloproteinase with thrombospondin motifs 5Q9UNA0Details
Nuclear receptor-interacting protein 1P48552Details
Folate transporter 1P41440Details
Serine/threonine-protein kinase SIK1P57059Details
Carbonyl reductase [NADPH] 3O75828Details
ATP-sensitive inward rectifier potassium channel 15Q99712Details
Heat shock 70 kDa protein 13P48723Details
Trefoil factor 1P04155Details
Sodium/myo-inositol cotransporterP53794Details
Receptor-interacting serine/threonine-protein kinase 4P57078Details
Transmembrane protease serine 2O15393Details