Chromosome 12

Abstract

Human chromosome 12 is a submetacentric chromosome that contains 4.5% of the genetic material in the genome. It is characterized by gene clusters including those encoding homeobox C, type II keratins and proline‐rich proteins. The final sequence of Human chromosome 12 has been published and annotated (Scherer et al., 2006).

Keywords: chromosome 12; mapping; gene clusters; diseases; cancer genes; rearrangements

References

ADHR Consortium (2000) Autosomal dominant hypophosphatae mic rickets is associated with mutations in FGF23. Nature Genetics 26: 345–348.

Baes M, Gressens P, Baumgart E et al. (1997) A mouse model for Zellweger syndrome. Nature Genetics 17: 49–57.

Bamshad M, Lin RC, Law DJ et al. (1997) Mutations in human TBX3 alter limb, apocrine and genital development in ulnarmammary syndrome. Nature Genetics 16: 311–315.

Basson CT, Cowley GS, Solomon SD et al. (1994) The clinical and genetic spectrum of the Holt–Oram syndrome (heart–hand syndrome). New England Journal of Medicine 330: 885–891.

Bienengraeber M, Olson TM, Selivanov VA et al. (2004) ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic K(ATP) channel gating. Nature Genetics 36: 382–387.

de Bruin TWA, Slater RM, Defferrari R et al. (1994) Isochromosome 12p‐positive pineal germ cell tumor. Cancer Research 54: 1542–1544.

Chipev CC, Korge BP, Markova N et al. (1992) A leucine‐to‐proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell 70: 821–828.

Cohen D, Chumakov I and Weissenbach J (1993) A first‐generation physical map of the human genome. Nature 366: 698–701.

Deen PMT, Weghuis DO, Sinke RJ et al. (1994) Assignment of the human gene for the water channel of renal collecting duct aquaporin 2 (AQP2) to chromosome 12 region q12–q13. Cytogenetics and Cell Genetics 66: 260–262.

Dong W, Ryynanen M and Uitto J (1993) Identification of a leucine‐to‐proline mutation in the keratin 5 gene in a family with the generalized Koebner type of epidermolysis bullosa simplex. Human Mutation 2: 94–102.

Duerr RH, Barmada MM, Zhang L et al. (1998) Linkage and association between inflammatory bowel disease and a locus on chromosome 12. American Journal of Human Genetics 63: 95–100.

Engle EC, Kunkel LM, Specht LA and Beggs AH (1994) Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nature Genetics 7: 69–73.

Hughes AL, da Silva J and Friedman R (2001) Ancient genome duplications did not structure the human Hox‐bearing chromosomes. Genome Research 11: 771–780.

International Human Genome Mapping Consortium (2001) A physical map of the human genome. Nature 409: 934–941.

International Human Genome Mapping Consortium (2001) Initial sequencing and analysis of the human genome. Nature 409: 860–921.

International SNP Map Working Group (2001) A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409: 928–933.

Koide R, Ikeuchi T, Onodera O et al. (1994) Unstable expansion of CAG repeat in hereditary dentatorubral pallidoluysian atrophy (DRPLA). Nature Genetics 6: 9–13.

Krauter K, Montgomery K, Yoon S‐J et al. (1995) A second generation YAC contig map of human chromosome 12. Nature 377(6547 supplement): 321–333.

Lane EB, Rugg EL, Navsaria H et al. (1992) A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature 356: 244–246.

LeBlanc‐Straceski JM, Montgomery KT, Kissel H et al. (1994) Twenty‐one polymorphic markers from human chromosome 12 for integration of genetic and physical maps. Genomics 19(2): 341–349.

Li SH, McInnis MG, Margolis RL, Antonarakis SE and Ross CA (1993) Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms. Genomics 16: 572–579.

Momand J, Zambetti GP, Olson DC, George DL and Levine AJ (1992) The mdm‐2 oncogene product forms a complex with the p53 protein and inhibits p53‐mediated transactivation. Cell 69: 1237–1245.

Montgomery KT, LeBlanc JM, Tsai P et al. (1993) Characterization of two chromosome 12 cosmid libraries and development of STSs from cosmids mapped by FISH. Genomics 17(3): 682–693.

Montgomery KT, Lee E, Miller A et al. (2001) A high‐resolution map of human chromosome 12. Nature 409: 943–945.

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

Murty VVVS, Houldsworth J, Baldwin S et al. (1992) Allelic deletions in the long arm of chromosome 12 identify sites of candidate tumor suppressor genes in male germ cell tumors. Proceedings of the National Academy of Sciences of the USA 89: 11006–11010.

Murty VVVS, Montgomery K, Dutta S et al. (1999) A 3‐Mb high resolution BAC/PAC contig of 12q22 encompassing the 830 kb consensus minimal deletion in male germ cell tumors. Genome Research 9: 662–671.

Osoegawa K, Mammoser AG, Wu C et al. (2001) A bacterial artificial chromosome library for sequencing the complete human genome. Genome Research 11: 483–496.

Parkes M, Barmada MM, Satsangi J et al. (2000) The IBD2 locus shows linkage heterogeneity between ulcerative colitis and Crohn disease. American Journal of Human Genetics 67: 1605–1610.

Pellegata NS, Dieguez‐Lucena JL, Joensuu T et al. (2000) Mutations in KERA, encoding keratocan, cause cornea plana. Nature Genetics 25: 91–95.

Peltomaki P, Knuutila S, Ritvanen A, Kaitila I and de la Chapelle A (1987) Pallister‐Killian syndrome: cytogenetic and molecular studies. Clinical Genetics 31: 399–405.

Pericak‐Vance MA, Bass MP, Yamaoka LH et al. (1997) Complete genomic screen in late‐onset familial Alzheimer disease: evidence for a new locus on chromosome 12. Journal of the American Medical Association 278: 1237–1241.

Poetter K, Jiang H, Hassanzadeh S et al. (1996) Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nature Genetics 13: 63–69.

Pulst S‐M, Nechiporuk A, Nechiporuk T et al. (1996) Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genetics 14: 269–276.

Rabbitts TH, Forster A, Larson R and Nathan P (1993) Fusion of the dominant negative transcription regulator CHOP with a novel gene FUS by translocation t(12;16) in malignant liposarcoma. Nature Genetics 4: 175–180.

Rothnagel JA, Dominey AM, Dempsey LD et al. (1992) Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science 257: 1128–1130.

Ruiz‐Perez VL, Carter SA, Healy E et al. (1999) ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class. Human Molecular Genetics 8: 1621–1630.

Satsangi J, Parkes M, Louis E et al. (1996) Two stage genome‐wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosome 3, 7 and 12. Nature Genetics 14: 199–202.

Scherer SE, Muzny DM, Buhay CJ et al. (2006) The finished DNA sequence of human chromosome 12. Nature 440: 346–351.

Schoenmakers EFPM, Huysmans C and Van de Ven WJM (1999) Allelic knockout of novel splice variants of human recombination repair gene RAD51B in t(12,14) uterine leiomyomas. Cancer Research 59: 19–23.

Schoenmakers EPPM, Wanschura S, Mols R et al. (1995) Recurrent rearrangements in the high mobility group protein gene, HMGIC, in benign mesenchymal tumours. Nature Genetics 10: 436–444.

Tartaglia M, Mehler EL, Goldberg R et al. (2001) Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP‐2, cause Noonan syndrome. Nature Genetics 29: 465–468.

Taylor MRG, Slavov D, Gajewski A et al. (2005) Thymopoietin (lamina‐associated polypeptide 2) gene mutation associated with dilated cardiomyopathy. Human Mutation 26: 566–574.

Tullio‐Pelet A, Salomon R, Hadj‐Rabia S et al. (2000) Mutant WD‐repeat protein in triple‐A syndrome. Nature Genetics 26: 332–335.

Warburton D, Anyane‐Yeboa K and Francke U (1987) Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the Pallister‐mosaic syndrome cases. American Journal of Medical Genetics 27: 275–283.

Winter H, Rogers MA, Langbein L et al. (1997) Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nature Genetics 16: 372–374.

Wolfel T, Hauer M, Schneider J et al. (1995) A p16(INK4a)‐insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma. Science 269: 1281–1284.

Xiao Z‐X, Chen J, Levine AJ et al. (1995) Interaction between the retinoblastoma protein and the oncoprotein MDM2. Nature 375: 694–698.

Zani VJ, Asou N, Jadayel D et al. (1996) Molecular cloning of complex chromosomal translocation t(8,14,12)(q24.1,q32.3, q24.1) in a Burkitt lymphoma cell line defines a new gene (BCL7A) with homology to caldesmon. Blood 87: 3124–3134.

Further Reading

Baylor College of Medicine Human Genome Sequencing Center (2006) http://www.hgsc.bcm.tmc.edu/.

Cancer Genome Anatomy Project. Includes link to Mittelman Database of Chromosome Aberrations in Cancer (2006) http://cgap.nci.nih.gov/Chromosomes/RecurrentAberrations.

Ensembl Genome Browser (2006) http://www.ensembl.org.

Genome Channel (2006) http://genome.ornl.gov.

Marshfield Center for Medical Genetics (2006) http://www.marshfieldclinic.org/research/genetics.

NCBI Human=Mouse Homology Map (2006) http://www.ncbi.nlm.nih.gov/Homology/.

NCBI Map Viewer (2006) http://www.ncbi.nlm.nih.gov/.

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How to Cite close
Montgomery, Kate, and Kucherlapati, Raju(Apr 2007) Chromosome 12. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005821.pub2]