Human Genome Project: Chromosome 20

The Wellcome Trust Sanger Institute played a substantial role in the sequencing and interpretation of the human genome, contributing almost one third of the gold-standard sequence, published in 2004. The Institute engaged in collaborative projects to sequence 9 of the 23 human chromosomes. This document is historical, presented here to provide a complete record. It might not have been updated and is a contemporary account.

Chromosome 20 publication front cover.

Chromosome 20 publication front cover. [Reprinted by permission from Macmillan Publishers Ltd: [Nature] (414 (6866): 829 - 938), ©2001]

zoom

Chromosome 20 is the largest human acrocentric chromosome. The short arm of the chromosome is heterochromatic and is homologous to the short arms of chromosomes 14, 15, 21 and 22. The sequence of the euchromatic, long arm of the chromosome was determined at the Sanger Institute and covers 95,567,076 base pairs. The analysis of the sequence, reported in Nature, identifies 633 gene structures and 296 pseudogenes, which means that chromosome 13 has the lowest gene density of the autosomes analysed to date. The genes present include ones linked to various cancers (BRCA2, RB1) and to schizophrenia. 105 putative non-coding RNA genes have also been identified, including 9 microRNAs. Multi-species sequence comparison indicates that over 95% of protein coding genes on the chromosome have been identified. This analysis also reveals 112 non-exonic conserved regions, some of which could be regulatory or structural elements.

Chromosome 20 is metacentric and has an estimated size of 63.7 Mb (NCBI build 34). We completed 99.4% of the sequence of the euchromatic part of the short (p) and long (q) arm of the chromosome in 6 contigs (59,187,298 bp). An additional 234,339 bp of sequence has been determined within the pericentromeric region of the long arm.

  • Sequencing Centre: Wellcome Trust Sanger Institute

References

  • The impact of SNP density on fine-scale patterns of linkage disequilibrium.

    Ke X, Hunt S, Tapper W, Lawrence R, Stavrides G, Ghori J, Whittaker P, Collins A, Morris AP, Bentley D, Cardon LR and Deloukas P

    Human molecular genetics 2004;13;6;577-88

  • The DNA sequence and comparative analysis of human chromosome 20.

    Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M, Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE, Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C, Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A, Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA, Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S and Rogers J

    Nature 2001;414;6866;865-71

* quick link - http://q.sanger.ac.uk/4kcf9bh1