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Latest revision as of 06:39, February 21, 2007

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Chromosome 11

Chromosome 11 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 11 spans about 134.5 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells. It is one of the most gene- and disease-rich chromosomes in the human genome.

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 11 likely contains between 1,300 and 1,700 genes.

A recent study [1] shows that 11.6 genes per megabase, including 1,524 protein-coding genes and 765 pseudogenes can be found on chromosome 11.

More than 40% of the 856 olfactory receptor genes in the human genome are located in 28 single- and multi-gene clusters along this chromosome.

Genetic linkage studies have been carried out by Hodgkinson et al (2002) investigating mutations affecting the tyrosine hydroxylase (TH) gene which encodes the rate-limiting enzyme for the synthesis of three neurotransmitters, adrenaline, noradrenaline and dopamine; the variable portion of the Harvey-ras-1 HRAS110 locus and the variable region of the insulin gene (INS)11. All three markers are closely linked on chromosome 11 and might therefore be responsible for causing the bipolar disorder phenotype.

GenesEdit

The following are some of the genes located on chromosome 11:

  • ACAT1: acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase)
  • ATM: ataxia telangiectasia mutated (includes complementation groups A, C and D)
  • CPT1A: carnitine palmitoyltransferase 1A (liver)
  • DHCR7: 7-dehydrocholesterol reductase
  • HBB: hemoglobin, beta
  • HMBS: hydroxymethylbilane synthase
  • HRAS: v-Ha-ras Harvey rat sarcoma viral oncogene homolog
  • KCNQ1: potassium voltage-gated channel, KQT-like subfamily, member 1 (mutation leads to sudden death)
  • MEN1: multiple endocrine neoplasia I
  • MTMR2: myotubularin related protein 2
  • MYO7A: myosin VIIA
  • PAX6
  • PTS: 6-pyruvoyltetrahydropterin synthase
  • SAA1: serum amyloid A1
  • SBF2: SET binding factor 2
  • SMPD1: sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)
  • TECTA: tectorin alpha (nonsyndromic deafness)
  • USH1C: Usher syndrome 1C (autosomal recessive, severe)

DiseasesEdit

The following diseases are some of those related to genes on chromosome 11:

ReferencesEdit

  1. Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E, Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K, Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC, Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES, Sakaki Y (2006). Human chromosome 11 DNA sequence and analysis including novel gene identification. Nature 440 (7083): 497-500. PMID 16554811.
  • Gilbert F (2000). Disease genes and chromosomes: disease maps of the human genome. Genet Test 4 (4): 409-26. PMID 11216668.
  • Hodgkinson,S., Sherrington,R., Gurling,H., Marchbanks,R., Reeders,S., Mallet,J., Mclnnis,M., Petursson,H. & Brynjolfsson,J.(2002); Molecular genetic evidence for heterogeneity in manic depression.Nature 325, 805 -806 doi:10.1038/325805a0


Human chromosomes

{1} {2} {3} {4} {5} {6} {7} {8} {9} {10} {11} {12} {13} {14} {15} {16} {17} {18} {19} {20} {21} {22} {X} {Y}

fr:Chromosome 11 humain
hu:Humán 11-es kromoszóma
pt:Cromossoma 11 (humano)
sr:Хромозом 11 (човек)
tr:kromozom 11
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