Chromosome 1


Human chromosome 1 is the largest human chromosome. This metacentric chromosome, which contains 8% of the genetic material in the genome, is characterized by several gene clusters, including the epidermal differentiation complex, and genes predisposing to a large number of human diseases.

Keywords: chromosome 1; sequencing; gene cluster; disease; maps


Bailey JA, Yavor AM, Massa HF, Trask BJ and Eichler EE (2001) Segmental duplications: organization and impact within the current Human Genome Project assembly. Genome Research 11: 1005–1017.


CGAP (The Cancer Genome Anatomy Project). Mitelman Database of Chromosome Aberrations in Cancer


Entrez Gene

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Further Reading

Gregory SG, Barlow KF, McLay KE et al. (2006) The DNA sequence and biological annotation of human chromosome 1. Nature 441: 315–321.

Kong X, Murphy K, Raj T et al. (2004) A combined linkage‐physical map of the human genome. American Journal of Human Genetics 75: 1143–1148.

Schutte BC, Carpten JD, Forus A et al. (2001) Report of the sixth international workshop on human chromosome 1 mapping 2000. Cytogenetics and Cell Genetics 92: 23–41.

South AP, Cabral A, Ives JH et al. (1999) Human epidermal differentiation complex in a single 2.5 Mbp long continuum of overlapping DNA cloned in bacteria integrating physical and transcript maps. Journal of Investigative Dermatology 112: 910–918.

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How to Cite close
White, Peter S(Sep 2007) Chromosome 1. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005810.pub2]