WordNet
- a threadlike strand of DNA in the cell nucleus that carries the genes in a linear order; "humans have 22 chromosome pairs plus two sex chromosomes"
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- 染色体
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/10/12 21:18:31」(JST)
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This article is about a chromosome. For the novel of the same name, see Chromosome 6 (novel) .
| Chromosome 6 (human) |
|
Human chromosome 6 pair after G-banding.
One is from mother, one is from father.
|
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Chromosome 6 pair in human male karyogram.
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| Features |
| Length (bp) |
170,805,979 bp |
| Number of genes |
2,828 |
| Type |
Autosome |
| Centromere position |
Submetacentric [1] |
| Identifiers |
| RefSeq |
NC_000006 |
| GenBank |
CM000668 |
Ideogram of human chromosome 6. Mbp means mega base pair. See locus for other notation.
Chromosome 6 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 6 spans more than 170 million base pairs (the building material of DNA) and represents between 5.5 and 6% of the total DNA in cells. It contains the Major Histocompatibility Complex, which contains over 100 genes related to the immune response, and plays a vital role in organ transplantation.
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 6 likely contains between 2,000 and 2,057 genes.[2] As of 2003, the entirety of chromosome 6 has been sequenced by manual annotation of proteins, resulting in the identification of 1,557 genes and 633 pseudogenes.[3]
Contents
- 1 Genes
- 2 Diseases & disorders
- 3 References
Genes
The human leukocyte antigen lies on chromosome 6 (exception: the gene for β2-microglobulin which is located on chromosome 15), and encodes cell-surface antigen-presenting proteins among other functions. The following are some of the genes and their corresponding Cytogenetic location on chromosome 6:
q-arm
- BCKDHB: branched-chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease) (6q14.1)
- MYO6: myosin VI (6q14.1)
- CNR1: cannabinoid 1 receptor (6q14-q15)[4]
- HACE1: HECT domain and Ankyrin repeat containing, E3 ubiquitin protein ligase 1 (6q21)
- TAAR1: trace amine associated receptor 1 (6q23.1)
- TAAR2: trace amine associated receptor 2 (6q24)
- EYA4: eyes absent homolog 4 (Drosophila)(6q23.2)
- IFNGR: interferon-γ receptor gene (6q23-q24)
- OPRM1: μ-opioid receptors (6q24-q25)
- IGF2R: insulin-like growth factor 2 receptor (6q25.3)
- PLG: plasminogen (6q26)
- PARK2: Parkinson disease (autosomal recessive, juvenile) 2, parkin (6q26)
- T: T brachyury transcription factor (more commonly known as the T gene) linked to Hepatocellular carcinoma and Chordoma (6q27)[5]
p-arm
- MUT: methylmalonyl Coenzyme A mutase (6p12.3)
- VEGF: vascular endothelial growth factor A (angiogenic growth factor) (6p21.1)
- PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive) (6p21.2-p12)
- COL11A2: collagen, type XI, alpha 2(6p21.3)
- CYP21A2: cytochrome P450, family 21, subfamily A, polypeptide 2 (6p21.33)
- HFE: hemochromatosis (6p21.3)
- HLA-A, HLA-B, HLA-C: major histocompatibility complex (MHC), class I, A, B, and C loci. (6p21.3)
- HLA-DQA1 and HLA-DQB1 form HLA-DQ heterodimer MHC class II, DQ: Celiac1, IDDM (6p21.3)
- HLA-DRA, HLA-DRB1, HLA-DRB3, HLA-DRB4, HLA-DRB5 forms HLA-DR, heterodimer MHC class II, DR (6p21.3)
- HLA-DPA1 and HLA-DPB1 forms HLA-DR, MHC class II, DP (6p21.3)
- HLA-Cw*06:02: gene variation related to psoriasis (6p21.3)
- TNXB: tenascin XB (6p21.3)
- DSP: Desmoplakin gene linked to cardiomyopathy (6p24.3)
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This section requires expansion. (June 2008) |
Diseases & disorders
The following diseases are some of those related to genes on chromosome 6:
- ankylosing spondylitis, HLA-B
- collagenopathy, types II and XI
- Coeliac disease HLA-DQA1 & DQB1
- Ehlers-Danlos syndrome, classical, hypermobility, and Tenascin-X types
- Hashimoto's thyroiditis
- hemochromatosis
- Hemochromatosis type 1
- 21-hydroxylase deficiency
- maple syrup urine disease
- methylmalonic acidemia
- Autosomal nonsyndromic deafness
- otospondylomegaepiphyseal dysplasia
- Parkinson disease
- polycystic kidney disease
- porphyria
- porphyria cutanea tarda
- Rheumatoid arthritis, HLA-DR
- Stickler syndrome, COL11A2
- Systemic lupus erythematosus
- Diabetes mellitus type 1, HLA-DR, DQA1 & DQB1
- X-linked sideroblastic anemia
- Epilepsy
- Guillain Barre Syndrome
- Chordoma
- Hepatocellular carcinoma
References
- ^ "Table 2.3: Human chromosome groups". Human Molecular Genetics (2nd ed.). Garland Science. 1999.
- ^ "Homo sapiens (human) Chromosome 6". NCBI Map Viewer. National Center for Biotechnology Information.
- ^ Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J, Beck S; Palmer; Sims; Edwards; Ashurst; Wilming; Jones; Horton; Hunt; Scott; Gilbert; Clamp; Bethel; Milne; Ainscough; Almeida; Ambrose; Andrews; Ashwell; Babbage; Bagguley; Bailey; Banerjee; Barker; Barlow; Bates; Beare; Beasley; Beasley; et al. (October 2003). "The DNA sequence and analysis of human chromosome 6". Nature 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404.
- ^ Matsuda LA, Lolait SJ, Brownstein MJ, Young AC, Bonner TI; Lolait; Brownstein; Young; Bonner (August 1990). "Structure of a cannabinoid receptor and functional expression of the cloned cDNA". Nature 346 (6284): 561–4. Bibcode:1990Natur.346..561M. doi:10.1038/346561a0. PMID 2165569.
- ^ "T brachyury transcription factor". T - T brachyury transcription factor - Genetics Home Reference.
- Some text in this article was taken from http://ghr.nlm.nih.gov/chromosome=6 (public domain)
- Gilbert F (2002). "Chromosome 6". Genet Test 6 (4): 341–58. doi:10.1089/10906570260471912. PMID 12537662.
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Wikimedia Commons has media related to Human chromosome 6. |
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Human chromosomes
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| Autosome |
- 1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
- 9
- 10
- 11
- 12
- 13
- 14
- 15
- 16
- 17
- 18
- 19
- 20
- 21
- 22
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| Sex chromosome |
- X
- Y
- Pseudoautosomal region
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UpToDate Contents
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English Journal
- Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.
- Raviglione F1, Conte G2,3, Ghezzi D4, Parazzini C3, Righini A3, Vergaro R5, Legati A4, Spaccini L6, Gasperini S7, Garavaglia B4, Mastrangelo M5.
- American journal of medical genetics. Part A.Am J Med Genet A.2016 Nov;170(11):3004-3007. doi: 10.1002/ajmg.a.37836. Epub 2016 Aug 23.
- The FARS2 gene encodes the mitochondrial phenylalanyl-tRNA synthetase and is implicated in autosomal recessive combined oxidative phosphorylation deficiency 14, a clinical condition characterized by infantile onset epilepsy and encephalopathy. Mutations in FARS2 have been reported in only few patien
- PMID 27549011
- Spontaneous mutation accumulation in Daphnia pulex in selection-free versus competitive environments.
- Flynn JM1, Chain FJ2, Schoen DJ2, Cristescu ME2.
- Molecular biology and evolution.Mol Biol Evol.2016 Oct 24. pii: msw234. [Epub ahead of print]
- Understanding the rates, spectra, and fitness effects of spontaneous mutations is fundamental to answering key questions in evolution, molecular biology, disease genetics and conservation biology. To estimate mutation rates and evaluate the effect of selection on new mutations, we propagated mutatio
- PMID 27777284
- Polymorphic variation in TPMT is the principal determinant of TPMT phenotype: a meta-analysis of three genome-wide association studies.
- Tamm R1,2, Mägi R2, Tremmel R3, Winter S3, Mihailov E2, Smid A4, Möricke A5, Klein K3, Schrappe M5, Stanulla M6, Houlston R7, Weinshilboum R8, Mlinarič Raščan I4, Metspalu A1,2, Milani L2, Schwab M9,10,11, Schaeffeler E12.
- Clinical pharmacology and therapeutics.Clin Pharmacol Ther.2016 Oct 22. doi: 10.1002/cpt.540. [Epub ahead of print]
- Thiopurine-related hematotoxicity in paediatric acute lymphoblastic leukemia (ALL) and inflammatory bowel diseases has been linked to genetically defined variability in thiopurine S-methyltransferase (TPMT) activity. While gene testing of TPMT is being clinically implemented, it is unclear if additi
- PMID 27770449
Japanese Journal
- 顕微鏡下精巣内精子回収術(Microdissection testicular sperm extraction : MD-TESE)により精子を回収し得たY染色体常染色体転座の1例
- Large-scale genome reorganization in Saccharomyces cerevisiae through combinatorial loss of mini-chromosomes
- Ueda Youji,Ikushima Shigehito,Sugiyama Minetaka [他]
- Journal of bioscience and bioengineering 113(6), 675682, 2012-06
- NAID 40019318854
Related Links
- Duplications of genetic material in the short (p) arm of chromosome 6 have been associated with the growth and spread of several types of cancer. These duplications are somatic, which means they are acquired during a person's ...
- Chromosome 6 Deletions: A chromosome 6 deletion is a rare disorder in which some of the genetic material that makes up one of the body’s 46 chromosomes – specifically chromosome 6 in this case – is missing. Like most other ...
- General Discussion Chromosome 6 Ring is a rare disorder in which there is loss (deletion) of chromosomal material from both ends of the 6th chromosome and joining of the ends to form a ring. Associated symptoms and findings ...
★リンクテーブル★
[★]
- 英
- chromosome 6
- 関
- 第6番染色体、第6染色体
[★]
- 英
- chromosome 6
- 関
- 第6番染色体、6番染色体
[★]
- 英
- chromosome 6
- 関
- 第6染色体、6番染色体