Chromosome 5


Human chromosome 5 is a submetacentric chromosome containing some 6% of the genetic material in the genome. It is characterized by many gene clusters including those encoding interleukins, protocadherins and complement proteins.

Keywords: chromosome 5; complex genetic diseases; spinal muscular atrophy; asthma; interleukin gene cluster; Cri du chat; acute myelogenous leukemia; protocadherin


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Loots GG, Locksley RM, Blankespoor CM, et al. (2000) Identification of a coordinate regulator of interleukins 4, 13, and 5 by cross‐species sequence comparisons. Science 288: 136–140.

Mainardi PC, Perfumo C, Cali A, et al. (2001) Clinical and molecular characterisation of 80 patients with 5p deletion: genotype–phenotype correlation. Journal of Medical Genetics 38: 151–158.

Morton NE (1991) Parameters of the human genome. Proceedings of the National Academy of Sciences of the United States of America 88: 7474–7476.

Overhauser J, Huang X, Gersh M, et al. (1994) Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri‐du‐chat syndrome. Human Molecular Genetics 3: 247–252.

Postma DS, Bleecker ER, Amelung PJ, et al. (1995) Genetic susceptibility to asthma – bronchial hyperresponsiveness coinherited with a major gene for atopy. New England Journal of Medicine 333: 894–900.

Puechberty J, Laurent AM, Gimenez S, et al. (1999) Genetic and physical analyses of the centromeric and pericentromeric regions of human chromosome 5: recombination across 5cen. Genomics 56: 274–287.

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Further Reading

Fairman J, Chumakov I, Chinault AC, Nowell PC and Nagarajan L (1995) Physical mapping of the minimal region of loss in 5q‐ chromosome. Proceedings of the National Academy of Sciences of the United States of America 92: 7406–7410.

Fischer U, Liu Q and Dreyfuss G (1997) The SMN–SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell 90: 1023–1029.

Gu Z, Wang H, Nekrutenko A and Li WH (2000) Densities, length proportions, and other distributional features of repetitive sequences in the human genome estimated from 430 megabases of genomic sequence. Gene 259: 81–88.

Horrigan SK, Arbieva ZH, Xie HY, et al. (2000) Delineation of a minimal interval and identification of 9 candidates for a tumor suppressor gene in malignant myeloid disorders on 5q31. Blood 95: 2372–2377.

Liu Q, Fischer U, Wang F and Dreyfuss G (1997) The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. Cell 90: 1013–1021.

Niebuhr E (1978) The cri du chat syndrome: epidemiology, cytogenetics, and clinical features. Human Genetics 44: 227–275.

Pellizzoni L, Charroux B, Rappsilber J, Mann M and Dreyfuss G (2001) A functional interaction between the survival motor neuron complex and RNA polymerase II. Journal of Cell Biology 152: 75–85.

Web Links

CGAP–Mitelman Database

DOE Joint Genome Institute. Tiling map of chromosome 5

EMBL‐EBI Ensembl Human Genome Browser

Ensembl DiseaseView

GeneCards Database‐bin/cards/listdiseasecards?search=5&type=chrom

Marshfield Clinic/Center for Medical Genetics

NCBI Entrez Map View‐bin/Entrez/maps.cgi?org=hum&chr=5

Online Mendelian Inheritance in Man (OMIM) Database

UCSC Genome Bioinformatics Genome Browser

Survival of motor neuron 1 telomeric (SMN1); Locus ID: 6606 LocusLink:

Survival of motor neuron 1 telomeric (SMN1); MIM number: 600354 OMIM:‐post/Omim/dispmim?600354

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How to Cite close
Cheng, Jan‐Fang(Jan 2006) Chromosome 5. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005814]