Chromosome 14 (human)

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Chromosome 14 (human)
Features
Length (bp) 107,043,718 bp
Number of genes 1,655
Type Autosome
Centromere position Acrocentric [1]
Identifiers
RefSeq NC_000014
GenBank CM000676
Chromosome 14.jpeg

Chromosome 14 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 14 spans about 109 million base pairs (the building material of DNA) and represents between 3 and 3.5% of the total DNA in cells.

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 14 likely contains between 700 and 1,300 genes.

The centromere of chromosome 14 is positioned approximately at position 19.0-19.1 Mbp.

Genes[edit]

The following are some of the genes located on chromosome 14:

  • ATXN3: Ataxin-3 (Machado-Joseph disease)
  • COCH: coagulation factor C homolog, cochlin (Limulus polyphemus)
  • GALC: galactosylceramidase (Krabbe disease)
  • GCH1: GTP cyclohydrolase 1 (dopa-responsive dystonia)
  • IGH@: immunoglobulin heavy chain locus
  • IFT43: intraflagellar transport 43
  • MYH7: myosin heavy chain beta (MHC-β) isoform[2]
  • NPC2: Niemann-Pick disease, type C2
  • PSEN1: presenilin 1 (Alzheimer disease 3)
  • SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
  • TSHR: thyroid stimulating hormone receptor

Diseases & disorders[edit]

The following diseases are some of those related to genes on chromosome 14:

References[edit]

  1. ^ "Table 2.3: Human chromosome groups". Human Molecular Genetics (2nd ed.). Garland Science. 1999. 
  2. ^ Quiat D, Voelker KA, Pei J, Grishin NV, Grange RW, Bassel-Duby R, Olson EN (June 2011). "Concerted regulation of myofiber-specific gene expression and muscle performance by the transcriptional repressor Sox6". Proc. Natl. Acad. Sci. U.S.A. 108 (25): 10196–201. doi:10.1073/pnas.1107413108. PMC 3121857. PMID 21633012. 
  • Campo E (2003). "Genetic and molecular genetic studies in the diagnosis of B-cell lymphomas I: mantle cell lymphoma, follicular lymphoma, and Burkitt's lymphoma". Hum Pathol 34 (4): 330–5. doi:10.1053/hupa.2003.97. PMID 12733111. 
  • Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 14". Genet Test 3 (4): 379–91. PMID 10627948. 
  • Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C, Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A, Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H, Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon O, Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R, Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A, Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S, Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C, Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S, Combette S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C, Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P, Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois M, Dumont C, Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V, Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J, Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F, Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F, Waterston R, Hood L, Jean Weissenbach (2003). "The DNA sequence and analysis of human chromosome 14". Nature 421 (6923): 601–7. doi:10.1038/nature01348. PMID 12508121. 
  • Kamnasaran D, Cox DW (2002). "Current status of human chromosome 14". J Med Genet 39 (2): 81–90. doi:10.1136/jmg.39.2.81. PMC 1735028. PMID 11836355. 
  • Lemire EG, Cardwell S (1999). "Unusual phenotype in partial trisomy 14". Am J Med Genet 87 (4): 294–6. doi:10.1002/(SICI)1096-8628(19991203)87:4<294::AID-AJMG2>3.0.CO;2-S. PMID 10588832. 
  • van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC (2002). "Further delineation of the chromosome 14q terminal deletion syndrome". Am J Med Genet 110 (1): 65–72. doi:10.1002/ajmg.10207. PMID 12116274. 


References[edit]