The DNA sequence of human chromosome 21
| Autor: | M, Hattori, A, Fujiyama, T D, Taylor, H, Watanabe, T, Yada, H S, Park, A, Toyoda, K, Ishii, Y, Totoki, D K, Choi, Y, Groner, E, Soeda, M, Ohki, T, Takagi, Y, Sakaki, S, Taudien, K, Blechschmidt, A, Polley, U, Menzel, J, Delabar, K, Kumpf, R, Lehmann, D, Patterson, K, Reichwald, A, Rump, M, Schillhabel, A, Schudy, W, Zimmermann, A, Rosenthal, J, Kudoh, K, Schibuya, K, Kawasaki, S, Asakawa, A, Shintani, T, Sasaki, K, Nagamine, S, Mitsuyama, S E, Antonarakis, S, Minoshima, N, Shimizu, G, Nordsiek, K, Hornischer, P, Brant, M, Scharfe, O, Schon, A, Desario, J, Reichelt, G, Kauer, H, Blocker, J, Ramser, A, Beck, S, Klages, S, Hennig, L, Riesselmann, E, Dagand, T, Haaf, S, Wehrmeyer, K, Borzym, K, Gardiner, D, Nizetic, F, Francis, H, Lehrach, R, Reinhardt, M L, Yaspo |
|---|---|
| Přispěvatelé: | Antonarakis, Stylianos |
| Rok vydání: | 2000 |
| Předmět: |
ddc:616
Genetics Multidisciplinary Autosome Base Sequence Contig Gene map Chromosomes Human Pair 21 Molecular Sequence Data Chromosome Mapping Chromosome DNA Dna Sequence Analysis DNA Genome project Biology Genes Chromosome 19 Mutation Humans Down Syndrome Chromosome 21 Chromosome 22 Down Syndrome/genetics |
| Zdroj: | Nature, Vol. 405, No 6784 (2000) pp. 311-319 |
| ISSN: | 1476-4687 0028-0836 |
| DOI: | 10.1038/35012518 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|