Chromosome 20


Human chromosome 20 is the smallest metacentric autosome and comprises approximately 2% of genetic material in the genome.

Keywords: chromosome 20; physical mapping; gene mapping; paralogy; gene disorder


Bench AJ, Nacheva EP, Hold TL, et al. (2000) Chromosome 20 deletions in myeloid malignancies: reduction of the common deleted region, generation of a PAC/BAC contig and identification of candidate genes. UK Cancer Cytogenetics Group (UKCCG). Oncogene 19(34): 3902–3913.

Bentley DR, Deloukas P, Dunham A, et al. (2001) The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X. Nature 409(6822): 942–943.

Besco JA, Frostholm A, Popesco MC, et al. (2001) Genomic organization and alternative splicing of the human and mouse RPTPrho genes. BMC Genomics 2(1): 1–13.

Collins C, Volik S, Kowbel D, et al. (2001) Comprehensive genome sequence analysis of a breast cancer amplicon. Genome Research 11(6): 1034–1042.

Deloukas P, Matthews LH, Ashurst J, et al. (2001) The DNA sequence and comparative analysis of human chromosome 20. Nature 414(6866): 865–871.

Dib C, Faure S, Fizames C, et al. (1996) A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 380(6570): 152–154.

Gibson TJ and Spring J (2000) Evidence in favour of ancient octaploidy in the vertebrate genome. Biochemical Society Transactions 28(2): 259–264.

Hazan J, Dubay C, Pankowiak MP, et al. (1992) A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers. Genomics 12(2): 183–189.

Schnittger S, Rao VV, Abrahamson M and Hansmann I (1993) Cystatin C (CST3), the candidate gene for hereditary cystatin C amyloid angiopathy (HCCAA), and other members of the cystatin gene family are clustered on chromosome 20p11.2. Genomics 16(1): 50–55.

Yamagata K, Furuta H, Oda N, et al. (1996) Mutations in the hepatocyte nuclear factor‐4‐alpha gene in maturity‐onset diabetes of the young (MODY1). Nature 384(6608): 458–460.

Further Reading

Clauss A, Lilja H and Lundwall A (2002) A locus on human chromosome 20 contains several genes expressing protease inhibitor domains with homology to whey acidic protein. Journal of Biochemistry 368: 233–242.

Guillier‐Gencik Z, Coullin P, Zoorob R, et al. (2001) Assignment of the homologue of human JAG1 to chicken chromosome 3q11 by in situ hybridization. Cytogenetics and Cell Genetics, 95: 116–117.

Raudsepp T and Chowdhary BP (2001) Correspondence of human chromosomes 9, 12, 15, 16, 19 and 20 with donkey chromosomes refines homology between horse and donkey karyotypes. Chromosome Research 9: 623–629.

Smith SF, Snell P, Gruetzner F, et al. (2002) Analyses of the extent of shared synteny and conserved gene orders between the genome of Fugu rubripes and human 20q. Genome Research 12: 776–784.

Web Links

CancerGene Database

HUGO: Chromosome 20

Human Chromosome 20

Sanger Institute: Human Chromosome 20

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How to Cite close
Pollet, Nicolas(Jan 2006) Chromosome 20. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005829]