Chromosome 15

Chantal Farra, American University of Beirut Medical Center, Beirut, Lebanon
Cynthia C Morton, Harvard Medical School, Boston, Massachusetts, USA

Published online: March 2017

DOI: 10.1002/9780470015902.a0005824.pub3

Abstract

Human chromosome 15 is an acrocentric chromosome that represents approximately 3% of the genetic material in the human genome. Although it remains comparatively gene‐poor, chromosome 15 contains a ribosomal ribonucleic acid (rRNA) gene cluster and a number of imprinted genes. Over 900 genes were mapped to chromosome 15, some of which have been traced to various diseases including Prader–Willi syndrome (PWS), Angelman syndrome (AS) and many others. Robertsonian translocations are common cytogenetic aberrations that occur between nonhomologous acrocentric chromosomes at a frequency of 1 in 1000 live births. Robertsonian translocations that are involved with chromosome 15 represent an important cause of uniparental disomy, and thus are mechanistic in causing PWS and AS, which are disorders manifesting neurological, developmenmtal and behavioural phenotypes. A variety of non‐Robertsonian translocations have been reported to involve chromosome 15, among them being t(15;17)(q22;q11–q21), which is specifically associated with acute promyelocytic leukaemia.

Key Concepts

  • Human chromosome 15 is an acrocentric estimated to contain approximately 3% of the genetic material of the entire human genome.
  • Chromosome 15 shares substantial sequence similarities in the short arm that encode the tandemly repeated ribosomal ribonucleic acid genes and a series of other tandemly repeated sequence arrays.
  • Chromosome 15 has, due to the localisation in 15q11–q13 of Prader–Willi syndrome (PWS) and Angelman syndrome (AS), has illuminated the role of genomic imprinting in gene expression.
  • The physical size of chromosome 15 has been estimated at 107 Mb with 15p at 17 Mb and 15q at 89 Mb. The euchromatic region of this chromosome has been entirely sequenced, and contains 11 contigs.
  • A total of 301 Yeast artificial chromosomes, 306 bacterial artificial chromosomes, and 6493 sequence‐tagged sites have been identified on chromosome 15.
  • The genetic map length for chromosome 15 is 137 cM in the human female and 99 cM in the human male.
  • Over 900 genes were mapped to chromosome 15, some of which have been traced to the following diseases: Andermann syndrome, AS, Bardet–Biedl syndrome type 4, Bloom syndrome, cardiomyopathy, hepatic lipase deficiency, limb girdle muscular dystrophy, Marfan syndrome, oculocutaneous albinism type 2, PWS, spastic paraplegia type 6 and Tay–Sachs disease.
  • Robertsonian translocations are common cytogenetic aberrations that occur between nonhomologous acrocentric chromosomes at a frequency of 1 in 1000 live births.
  • Robertsonian translocations represent an important cause of uniparental disomy, and thus are mechanistic in causing PWS and AS when chromosome 15 is involved.
  • A variety of non‐Robertsonian translocations have been reported to involve chromosome 15, notably among them being t(15;17)(q22;q11–q21), which is specifically associated with acute promyelocytic leukaemia.

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

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Related Sub-Topics:

Inter-Individual Variation and Polymorphism | Genes, Molecules and Cellular Processes | Specific Genetic Disorders | Genomic Disorders | Chromosomal Disorders | Human Evolution | Population Structure and Genetics | Evolution and Development | Gene and Genome Structure and Organisation | Gene Mapping by Disease Association
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Article Title: Chromosome 15
 
How to Cite close
Farra, Chantal, and Morton, Cynthia C(Mar 2017) Chromosome 15. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005824.pub3]