The DNA sequence of human chromosome 21.
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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]
- 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.
DrugBank Data that Cites this Article
- Polypeptides
Name UniProt ID NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial P56181 Details Pyridoxal kinase O00764 Details Biotin--protein ligase P50747 Details Interferon alpha/beta receptor 2 P48551 Details Interferon alpha/beta receptor 1 P17181 Details Integrin beta-2 P05107 Details ATP-binding cassette sub-family G member 1 P45844 Details Protein S100-B P04271 Details Lanosterol synthase P48449 Details Superoxide dismutase [Cu-Zn] P00441 Details Carbonyl reductase [NADPH] 1 P16152 Details High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A O76083 Details Amyloid beta A4 protein P05067 Details A disintegrin and metalloproteinase with thrombospondin motifs 5 Q9UNA0 Details Nuclear receptor-interacting protein 1 P48552 Details Folate transporter 1 P41440 Details Serine/threonine-protein kinase SIK1 P57059 Details Carbonyl reductase [NADPH] 3 O75828 Details ATP-sensitive inward rectifier potassium channel 15 Q99712 Details Heat shock 70 kDa protein 13 P48723 Details Trefoil factor 1 P04155 Details Cystatin-B P04080 Details Calcipressin-1 P53805 Details Sodium/myo-inositol cotransporter P53794 Details Receptor-interacting serine/threonine-protein kinase 4 P57078 Details Transmembrane protease serine 2 O15393 Details