Human Genome Project: Chromosome 13

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 13 publication front cover.

Chromosome 13 publication front cover. [Reprinted by permission from Macmillan Publishers Ltd: [Nature] (428 (6982): 451 - 581), ©2004]


Chromosome 13 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.

  • Sequencing Centre: Wellcome Trust Sanger Institute


  • The DNA sequence and analysis of human chromosome 13.

    Dunham A, Matthews LH, Burton J, Ashurst JL, Howe KL, Ashcroft KJ, Beare DM, Burford DC, Hunt SE, Griffiths-Jones S, Jones MC, Keenan SJ, Oliver K, Scott CE, Ainscough R, Almeida JP, Ambrose KD, Andrews DT, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Bannerjee R, Barlow KF, Bates K, Beasley H, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burrill W, Carder C, Carter NP, Chapman JC, Clamp ME, Clark SY, Clarke G, Clee CM, Clegg SC, Cobley V, Collins JE, Corby N, Coville GJ, Deloukas P, Dhami P, Dunham I, Dunn M, Earthrowl ME, Ellington AG, Faulkner L, Frankish AG, Frankland J, French L, Garner P, Garnett J, Gilbert JG, Gilson CJ, Ghori J, Grafham DV, Gribble SM, Griffiths C, Hall RE, Hammond S, Harley JL, Hart EA, Heath PD, Howden PJ, Huckle EJ, Hunt PJ, Hunt AR, Johnson C, Johnson D, Kay M, Kimberley AM, King A, Laird GK, Langford CJ, Lawlor S, Leongamornlert DA, Lloyd DM, Lloyd C, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, McLaren SJ, McMurray A, Milne S, Moore MJ, Nickerson T, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B, Porter KM, Rice CM, Searle S, Sehra HK, Shownkeen R, Skuce CD, Smith M, Steward CA, Sycamore N, Tester J, Thomas DW, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Wilming L, Wray PW, Wright MW, Young L, Coulson A, Durbin R, Hubbard T, Sulston JE, Beck S, Bentley DR, Rogers J and Ross MT

    Nature 2004;428;6982;522-8

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