The DNA sequence of human chromosome 21
By M. Hattori, A. Fujiyama, T. D. Taylor, H. Watanabe, T. Yada, H.-S. Park, A. Toyoda, K. Ishii, Y. Totoki, D.-K. Choi and 53 more. Nature, 2000
1,397 citations recorded by the source corpus.
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.
Subfields: Genetics
View Paper: https://www.semanticscholar.org/paper/d62d4a363cc1cf6729b0e2261aa591251ec90ae7
How researchers see this paper
The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.
In Genetics
- Ilia J. Leitch
- Michael D. Bennett
- Evan E. Eichler
- J. Postlethwait
- Emmanouil T. Dermitzakis
- Johann Greilhuber
- J. Doležel
Citations in the corpus
- Genomics, gene expression and DNA arrays (2000, background): “At least partial sequence has been obtained for tens of thousands of mouse, rat and human genes, and the sequence of two entire human chromosomes (chromosomes 21 and 22) has been determine”
- Informatics for unveiling hidden genome signatures. (2003, background): “Four-fifths of the sequences were derived from very AT-rich gene-desert regions on chromosome 21 (Hattori et al. 2000), which correspond to L1 isochores (Saccone et al. 1999) and replicate very late during S phase (Watanabe et al. 2002).”