Jan‐Fang Cheng, Lawrence Berkeley National Laboratory, Berkeley, California, USA
Published online: January 2006
DOI: 10.1038/npg.els.0005814
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
| References | |
| Boultwood J, Strickson AJ, Jabs EW, et al. (2000) Physical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q-syndrome within 5q32, and immediately adjacent to the SPARC gene. Human Genetics 106: 127–129. | |
| Church DM, Bengtsson U, Nielsen KV, Wasmuth JJ and Niebuhr E (1995) Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features. American Journal of Human Genetics 56: 1162–1172. | |
| 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. | |
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| Rochette CF, Gilbert N and Simard LR (2001) SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens. Human Genetics 108: 255–266. | |
| Serafini T (1999) Finding a partner in a crowd: neuronal diversity and synaptogenesis. Cell 98: 133–136. | |
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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 | |
| ePath CGAP–Mitelman Database http://cgap.nci.nih.gov/Chromosomes/Mitelman | |
| ePath DOE Joint Genome Institute. Tiling map of chromosome 5 http://www.jgi.doe.gov/programs/hgp.html | |
| ePath EMBL-EBI Ensembl Human Genome Browser http://www.ensembl.org/Homo_sapiens | |
| ePath Ensembl DiseaseView http://www.ensembl.org/Homo_sapiens/diseaseview | |
| ePath GeneCards Database http://nciarray.nci.nih.gov/cgi-bin/cards/listdiseasecards?search=5&type=chrom | |
| ePath Marshfield Clinic/Center for Medical Genetics http://research.marshfieldclinic.org/genetics | |
| ePath NCBI Entrez Map View http://www.ncbi.nlm.nih.gov/cgi-bin/Entrez/maps.cgi?org=hum&chr=5 | |
| ePath Online Mendelian Inheritance in Man (OMIM) Database http://www3.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM | |
| ePath UCSC Genome Bioinformatics Genome Browser http://genome.ucsc.edu | |
| ePath Survival of motor neuron 1 telomeric (SMN1); Locus ID: 6606 LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=6606 | |
| ePath Survival of motor neuron 1 telomeric (SMN1); MIM number: 600354 OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?600354 | |
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