Chromosome 15

Human chromosome 15 is an acrocentric chromosome that contains approximately 3% of the genetic material in the genome. Although comparatively gene-poor, it contains a ribosomal ribonucleic acid (rRNA) gene cluster and a number of imprinted genes.

Keywords: chromosome 15; acrocentric chromosome; rRNA genes; imprinted genes; Robertsonian translocations

 References
    Adams MD, McVey M and Sekelsky J (2003) Drosophila BLM in double-strand break repair by synthesis-dependent strand annealing. Science 299: 265–267.
    Bittel DC, Kibiryeva N, Talebizadeh Z et al. (2003) Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD. Journal of Medical Genetics 40: 568–574.
    Casaubon LK, Melanson M, Lopes-Cendes I et al. (1996) The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q. American Journal of Human Genetics 58: 28–34.
    Christian SL, Bhatt NK, Martin SA et al. (1998) Integrated YAC contig map of the Prader–Willi/Angelman region on chromosome 15q11–q13 with average STS spacing of 35 kb. Genome Research 8: 146–157.
    de The H, Lavau C, Marchio A et al. (1991) The PML–RAR alpha fusion mRNA generated by the t(15;17) translocation in acute promyelocytic leukemia encodes a functionally altered RAR. Cell 66: 675–684.
    Ellis NA, Groden J, Ye TZ et al. (1995) The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 83: 655–666.
    Frisch A, Colombo R, Michaelovsky E et al. (2004) Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis. Human Genetics 114: 366–376.
    ePath Genew: Human Gene Nomenclature Database Search Engine (2006) Searchgenes. http://www.gene.ucl.ac.uk/cgi-bin/nomenclature/searchgenes.pl.
    Gratacos M, Nadal M, Martin-Santos R et al. (2001) A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders. Cell 106: 367–379.
    Howard HC, Dube MP, Prevost C et al. (2002a) Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population. European Journal of Human Genetics 10: 406–412.
    Howard HC, Mount DB, Rochefort D et al. (2002b) The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nature Genetics 32: 384–392.
    Jannot AS, Meziani R, Bertrand G et al. (2005) Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. European Journal of Human Genetics 13: 913–920.
    Kishore S and Stamm S (2006) The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Science 311: 230–232.
    Lee ST, Nicholls RD, Bundey S et al. (1994) Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader–Willi syndrome plus albinism. New England Journal of Medicine 330: 529–534.
    Maslen CL, Corson GM, Maddox BK, Glanville RW and Sakai LY (1991) Partial sequence of a candidate gene for the Marfan syndrome. Nature 352: 334–337.
    Morton CC, Christian SL, Donlon TA et al. (1999) Report of the Fourth International Workshop on Human Chromosome 15 Mapping 1997. Cytogenetics and Cell Genetics 84: 12–21.
    Mutirangura A, Jayakumar A, Sutcliffe JS et al. (1993) A complete YAC contig of the Prader–Willi/Angelman chromosome region (15q11–q13) and refined localization of the SNRPN gene. Genomics 18: 546–552.
    Mykytyn K, Braun T, Carmi R et al. (2001) Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nature Genetics 28: 188–191.
    Mykytyn K, Mullins RF, Andrews M et al. (2004) Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Proceedings of the National Academy of Sciences of the USA 101: 8664–8669.
    ePath NCBI Database (2006) http://www.ncbi.nlm.nih.gov/.
    Nicholls RD and Knepper JL (2001) Genome organization, function, and imprinting in Prader–Willi and Angelman syndromes. Annual Review of Genomics and Human Genetics 2: 153–175.
    ePath Online Mendelian Inheritance in Man (OMIM) (2006). http://www.ncbi.nlm.nih.gov/OMIM/.
    Richard I, Broux O, Chiannilkulchai N et al. (1994) Regional localization of human chromosome 15 loci. Genomics 23: 619–627.
    Richard I, Roudaut C, Saenz A et al. (1999) Calpainopathy – a survey of mutations and polymorphisms. American Journal of Human Genetics 64: 1524–1540.
    Robinson WP, Horsthemke B, Leonard S et al. (1997) Report of the Third International Workshop on Human Chromosome 15 Mapping. Cytogenetics and Cell Genetics 76: 1–13.
    Runte M, Huttenhofer A, Gross S et al. (2001) The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. Human Molecular Genetics 10: 2687–2700.
    Suzuki Y and Suzuki K (1970) Partial deficiency of hexosaminidase component a in juvenile gm2-gangliosidosis. Neurology 20: 848–851.
    Therman E, Susman B and Denniston C (1989) The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations. Annals of Human Genetics 53: 49–65.
    Wirth J, Back E, Huttenhofer A et al. (2001) A translocation breakpoint cluster disrupts the newly defined 3¢ end of the SNURF-SNRPN transcription unit on chromosome 15. Human Molecular Genetics 10: 201–210.
    Zody M, Garber M, Sharpe T et al. (2006) Analysis of the DNA sequence and duplication history of human chromosome 15. Nature 440(7084): 671–675.
 Further Reading
    Collod-Beroud G, Le Bourdelles S, Ades L et al. (2003) Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Human Mutation 22: 199–208.
    Corson GM, Chalberg SC, Dietz HC, Charbonneau NL and Sakai LY (1993) Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5¢ end. Genomics 17: 476–484.
    Farber C, Gross S, Neesen J, Buiting K and Horsthemke B (2000) Identification of a testis-specific gene (C15orf2) in the Prader–Willi syndrome region on chromosome 15. Genomics 65: 174–183.
    Howard HC, Mount DB, Rochefort D et al. (2002) The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nature Genetics 32: 384–392.
    Imamura O, Fujita K, Shimamoto A et al. (2001) Bloom helicase is involved in DNA surveillance in early S phase in vertebrate cells. Oncogene 20: 1143–1151.
    Kishino T, Lalande M and Wagstaff J (1997) UBE3A/E6-AP mutations cause Angelman syndrome. Nature Genetics 15: 70–73.
    Lee ST, Nicholls RD, Jong MT, Fukai K and Spritz RA (1995) Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics 26: 354–363.
    Pereira L, D’Alessio M, Ramirez F et al. (1993) Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. Human Molecular Genetics 2: 961–968.
    Rougeulle C, Glatt H and Lalande M (1997) The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in the brain. Nature Genetics 17: 14–15.
    Zatz M and Starling A (2005) Calpains and disease. New England Journal of Medicine 352: 2413–2423.
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Farra, Chantal, and Morton, Cynthia C(Apr 2007) Chromosome 15. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005824.pub2]