Chromosome 7


Human chromosome 7 is a submetacentric chromosome containing 5.3% of the genome. It is characterized by T‐cell receptor and homeobox A gene clusters and contains several imprinted genes.

Keywords: chromosome 7; disease; genes; maps; DNA sequence


Bouffard GG, Idol JR, Braden VV, et al. (1997) A physical map of human chromosome 7: an integrated YAC contig map with average STS spacing of 79 kb. Genome Research 7: 673–692.

Glockner G, Scherer S, Schattevoy R, et al. (1998) Large‐scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes. Genome Research 8: 1060–1073.

Green ED and Olson MV (1990) Chromosomal region of the cystic fibrosis gene in yeast artificial chromosomes: a model for human genome mapping. Science 250: 94–98.

Hirschhorn JN, Lindgren CM, Daly MJ, et al. (2001) Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height. American Journal of Human Genetics 69(1): 106–116.

Kunz J, Scherer SW, Klawitz I, et al. (1994) Regional localization of 725 human chromosome 7‐specific yeast artificial chromosome clones. Genomics 22: 439–448.

Lai CS, Fisher SE, Hurst JA, Vargha‐Khadem F and Monaco AP (2001) A forkhead‐domain gene is mutated in a severe speech and language disorder. Nature 413: 519–523.

Laitinen T, Daly MJ, Rioux JD, et al. (2001) A susceptibility locus for asthma‐related traits on chromosome 7 revealed by genome‐wide scan in a founder population. Nature Genetics 28: 87–91.

Rowen L, Koop BF and Hood L (1996) The complete 685‐kilobase DNA sequence of the human beta T cell receptor locus. Science 272: 1755–1762.

Scherer SW, Tompkins BJ and Tsui LC (1992) A human chromosome 7‐specific genomic DNA library in yeast artificial chromosomes. Mammalian Genome 3: 179–181.

Spence JE, Perciaccante RG, Greig GM, et al. (1988) Uniparental disomy as a mechanism for human genetic disease. American Journal of Human Genetics 42: 217–226.

Further Reading

Ewart AK, Morris CA, Atkinson D, et al. (1993) Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature Genetics 1: 11–16.

Grzeschik KH, Tsui L‐C and Green ED (1993) Report and abstracts of the First International Workshop on Human Chromosome 7 Mapping 1993. Cytogenetics and Cell Genetics 65: 52–73.

International Molecular Genetic Study of Autism Consortium (1998) A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Human Molecular Genetics 7: 571–578.

Johnson E and Cotter FE (1997) Monosomy 7 and 7q‐associated with myeloid malignancy. Blood Reviews 1: 46–55.

Lander ES, Linton LM, Birren B, et al. (2001) Initial sequencing and analysis of the human genome. Nature 409: 860–921.

Osborne LR, Li M, Pober B, et al. (2001) A 1.5 million base pair inversion polymorphism in families with Williams–Beuren syndrome. Nature Genetics 3: 321–325.

Ridley M (1999) ‘Instinct’. chap. 7. Genome: The Autobiography of a Species in 23 Chapters, New York, NY: HarperCollins.

Scherer SW, Cheung J, MacDonald JR, et al. (2003) Human chromosome 7: DNA sequence and biology. Science [published online 10 April 2003].

Tsui L‐C (1988) Genetic markers on chromosome 7. Journal of Medical Genetics 25: 294–306.

Tsui L‐C and collaborators (1989) Cystic fibrosis: cloning and genetics. Science 245: 923–924, 1029, 1059–1065, 1066–1073, 1073–1080.

Tsui L‐C, Donis‐Keller H and Grzeschik K‐H (1994) Report of the Second International Workshop on Human Chromosome 7 mapping 1994. Cytogenetics and Cell Genetics 71: 2–31.

Venter JC, Adams MD, Myers EW, et al. (2001) The sequence of the human genome. Science 291: 1304–1351.

Web Links

Genew Human Gene Nomenclature Database Search Engine. A gene‐based entry point into genomic/genetic as well as disease/phenotype information‐bin/nomenclature/

Human Genome Organization (HUGO). HUGO has established a reference website for chromosome 7 providing links to all other relevant sites housing information for that chromosome and the diseases that map to it

Online Mendelian Inheritance in Man (OMIM).

The chromosome 7 Annotation Project. A new website to support research community initiatives for functional and medical annotation of human chromosome 7 has been established at http: // This site contains a description of the complete sequence of human chromosome 7, a curated gene set as well as other features such as structural, functional and medical annotation data.

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How to Cite close
Scherer, Stephen W(Jan 2006) Chromosome 7. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005816]