Chromosome 8 (human)

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Chromosome 8 (human)
File:Human male karyotpe high resolution - Chromosome 8 cropped.png
Human chromosome 8 pair after G-banding.
One is from mother, one is from father.
File:Human male karyotpe high resolution - Chromosome 8.png
Chromosome 8 pair
in human male karyogram.
Features
Length (bp)145,138,636 bp
(GRCh38)[1]
No. of genes646 (CCDS)[2]
TypeAutosome
Centromere positionSubmetacentric[3]
(45.2 Mbp[4])
Complete gene lists
CCDS?
HGNC?
UniProt?
NCBI?
External map viewers
EnsemblChromosome 8
EntrezChromosome 8
NCBIChromosome 8
UCSCChromosome 8
Full DNA sequences
RefSeqNC_000008 (FASTA)
GenBankCM000670 (FASTA)

Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 spans about 145 million base pairs (the building material of DNA) and represents between 4.5 and 5.0% of the total DNA in cells.[5]

About 8% of its genes are involved in brain development and function, and about 16% are involved in cancer. A unique feature of 8p is a region of about 15 megabases that appears to have a high mutation rate. This region shows a significant divergence between human and chimpanzee, suggesting that its high mutation rates have contributed to the evolution of the human brain.[5]

Genes

See also: Category:Genes on human chromosome 8.

The following are some of the gene count estimates of human chromosome 8. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.[6]

Estimated by Protein-coding genes Non-coding RNA genes Pseudogenes Source Release date
CCDS 646 - - [2] 2016-09-08
HGNC 656 242 539 [7] 2017-05-12
Ensembl 670 1,052 613 [8] 2017-03-29
NCBI 719 848 682 [9][10][11] 2017-05-19

The following are some of the genes located on chromosome 8:

  • ADHFE1 encoding protein Alcohol dehydrogenase, iron containing 1
  • AEG1 : Astrocyte Elevated Gene (linked to hepatocellular carcinoma and neuroblastoma)
  • ANK1: ankyrin 1, erythrocytic
  • Arc/Arg3.1
  • ASAH1: N-acylsphingosine amidohydrolase (acid ceramidase) 1
  • ASPH: encoding enzyme Aspartyl/asparaginyl beta-hydroxylase
  • AZIN1: encoding protein Antizyme inhibitor 1
  • BRF2: transcription factor IIIB 50 kDa subunit
  • C8orf32/WDYHV1: encoding enzyme Protein N-terminal glutamine amidohydrolase
  • C8orf33: chromosome 8, open reading frame 33
  • C8orf4: encoding protein Uncharacterized protein C8orf4
  • C8orf46: encoding protein chromosome 8 open reading frame 46 (C8orf46)
  • C8orf48 encoding protein C8orf48
  • C8orf58: chromosome 8 open reading frame 58
  • CCAT1: colon cancer associated transcript 1
  • CCDC25: coiled-coil domain containing protein 25
  • CHD7: chromodomain helicase DNA binding protein 7
  • CHMP4C: Charged multivesicular body protein 4c
  • CHRAC1 encoding protein Chromatin accessibility complex 1
  • CHRNA2: cholinergic receptor, nicotinic, alpha 2 (neuronal)
  • CLN8: ceroid-lipofuscinosis, neuronal 8
  • CNGB3: cyclic nucleotide gated channel beta 3
  • COH1: vacuolar protein sorting 13B
  • CRISPLD1 encoding protein Cysteine rich secretory protein LCCL domain containing 1
  • CSGALNACT1: Chondroitin sulfate N-acetylgalactosaminyltransferase 1
  • CTHRC1 encoding protein Collagen triple helix repeat containing 1
  • CYP11B1: cytochrome P450, family 11, subfamily B, polypeptide 1
  • CYP11B2: cytochrome P450, family 11, subfamily B, polypeptide 2
  • DCSTAMP: dendrocyte expressed seven transmembrane protein
  • DPYS: dihydropyrimidinase
  • EBAG9: Estrogen receptor binding site associated antigen 9
  • EPPK1: epiplakin
  • ERICH5 encoding protein Glutamate rich 5
  • ESCO2: establishment of sister chromatid cohesion N-acetyltransferase 2
  • EXT1: exostosin glycosyltransferase 1
  • EXTL3: exostosin-like glycosyltransferase 3
  • EYA1: EYA transcriptional coactivator and phosphatase 1
  • FABP9: fatty acid binding protein 9, testis
  • FAM167A: family with sequence similarity 167, member A
  • FAM203B: family with sequence similarity 203, member B
  • FAM83A: family with sequence similarity 83, member A
  • FAM83H: family with sequence similarity 83, member H
  • FBXO16 encoding protein F-box protein 16
  • FDFT1 encoding protein Farnesyl-diphosphate farnesyltransferase 1
  • FGFR1: fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)
  • FGL1: Fibrinogen-like protein 1
  • GDAP1: ganglioside-induced differentiation-associated protein 1
  • GDF6: growth differentiation factor 6
  • GPIHBP1: GPI-anchored high density lipoprotein binding protein 1
  • GRINA: encoding protein Glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)
  • GSDMC encoding protein Gasdermin C
  • GULOP pseudogene: responsible for human inability to produce Vitamin C
  • HGSNAT: heparan-alpha-glucosaminide N-acetyltransferase
  • HMBOX1: encoding protein Homeobox containing 1, also known as homeobox telomere-binding protein 1 (HOT1)
  • HRSP12 encoding enzyme Ribonuclease UK114
  • INTS8: integrator complex subunit 8
  • INTS9: integrator complex subunit 9
  • KCNQ3: potassium channel, voltage gated KQT-like subfamily Q, member 3.
  • KIAA0196: KIAA0196
  • KIF13B encoding protein Kinesin family member 13B
  • LACTB2: lactamase, beta 2
  • LAPTM4B: lysosomal-associated transmembrane protein 4B
  • LOC642658: encoding protein Basic helix-loop-helix transcription factor scleraxis
  • LPL: lipoprotein lipase
  • LSM1: U6 snRNA-associated Sm-like protein LSm1
  • MAK16: MAK16 homolog
  • MCPH1: microcephaly, primary autosomal recessive 1
  • MIR6850 encoding protein MicroRNA 6850
  • MRPL13 encoding protein Mitochondrial ribosomal protein L13
  • MYBL1 encoding protein MYB proto-oncogene like 1
  • NBN: nibrin
  • NDRG1: N-myc downstream regulated gene 1
  • NEF3: neurofilament 3 (150kDa medium)
  • NEFL: neurofilament, light polypeptide 68kDa
  • ODF1: outer dense fiber protein 1
  • OTUD6B: OTU domain containing 6B
  • PDP1: pyruvate dehydrogenase phosphatase catalytic subunit 1
  • PKIA: cAMP-dependent protein kinase inhibitor alpha
  • PLEC: plectin
  • PNMA2: paraneoplastic antigen Ma2
  • PREX2: phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2
  • PROSC: proline synthetase co-transcribe bacterial homolog protein
  • GLI4: encoding protein Gli family zinc finger 4
  • PURG encoding protein Purine-rich element binding protein G
  • PVT1: Pvt1 oncogene
  • RECQL4: RecQ protein-like 4
  • RNF5P1: ring finger protein 5 pseudogene 1
  • RRS1: ribosome biogenesis regulator homolog
  • RUNX1T1: runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
  • SFTPC: surfactant protein C
  • SLC20A2: Sodium-dependent phosphate transporter 2
  • SLURP1: secreted LY6/PLAUR domain containing 1
  • SNAI2: snail homolog 2 (Drosophila)
  • SPAG11B: sperm-associated antigen 11B
  • STAU2: staufen double-stranded RNA binding protein 2
  • SYBU: Syntabulin
  • TG: thyroglobulin
  • THAP1: THAP domain containing, apoptosis associated protein 1
  • TMEM67: encoding protein Meckelin
  • TNFRSF11B: tumor necrosis factor receptor superfamily, member 11b
  • TONSL: encoding protein Tonsoku-like, DNA repair protein
  • TPA: tissue plasminogen activator
  • TRMT12: tRNA methyltransferase 12 homolog
  • TRPS1: trichorhinophalangeal syndrome I
  • TTI2 encoding protein TELO2 interacting protein 2
  • VCPIP1: valosin containing protein/p47 complex interacting protein 1
  • VMAT1: vesicular monoamine transporter protein
  • VPS13B: vacuolar protein sorting 13 homolog B (yeast)
  • VPS37A: vacuolar protein sorting 37 homolog A
  • WRN: Werner syndrome
  • YTHDF3: YTH N6-methyladenosine RNA binding protein 3
  • ZFP41: encoding protein ZFP41 zinc finger protein
  • ZHX2: zinc fingers and homeoboxes protein 2
  • ZMAT4: zinc finger matrin-type 4
  • ZNF16: zinc finger protein 16
  • ZNF395: encoding protein Zinc finger protein 395
  • ZNF517 encoding protein Zinc finger protein 517
  • ZNF696 encoding protein Zinc finger protein 696
  • ZNF703: zinc finger protein 703
  • ZNF706: zinc finger protein 706
  • ZNF707: encoding protein Zinc finger protein 707

Diseases and disorders

The following diseases and disorders are some of those related to genes on chromosome 8:

Cytogenetic band

G-banding ideograms of human chromosome 8
File:Human chromosome 8 ideogram vertical.svg
G-banding ideogram of human chromosome 8 in resolution 850 bphs. Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e.g. Ensembl, UCSC Genome Browser).
File:Human chromosome 08 - 400 550 850 bphs.png
G-banding patterns of human chromosome 8 in three different resolutions (400,[15] 550[16] and 850[4]). Band length in this diagram is based on the ideograms from ISCN (2013).[17] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process.[18]
G-bands of human chromosome 8 in resolution 850 bphs[4]
Chr. Arm[19] Band[20] ISCN
start[21] 		ISCN
stop[21] 		Basepair
start 		Basepair
stop 		Stain[22] Density
8 q 23.3 0 115 1 2,300,000 gneg
8 q 23.2 115 331 2,300,001 6,300,000 gpos 75
8 q 23.1 331 690 6,300,001 12,800,000 gneg
8 q 22 690 992 12,800,001 19,200,000 gpos 100
8 q 21.3 992 1179 19,200,001 23,500,000 gneg
8 q 21.2 1179 1380 23,500,001 27,500,000 gpos 50
8 q 21.1 1380 1639 27,500,001 29,000,000 gneg
8 q 12 1639 1897 2,900,0001 36,700,000 gpos 75
8 q 11.23 1897 2041 36,700,001 38,500,000 gneg
8 q 11.22 2041 2156 38,500,001 39,900,000 gpos 25
8 q 11.21 2156 2343 39,900,001 43,200,000 gneg
8 q 11.1 2343 2472 43,200,001 45,200,000 acen
8 q 11.1 2472 2645 45,200,001 47,200,000 acen
8 q 11.21 2645 2817 47,200,001 51,300,000 gneg
8 q 11.22 2817 3033 51,300,001 51,700,000 gpos 75
8 q 11.23 3033 3277 51,700,001 54,600,000 gneg
8 q 12.1 3277 3493 54,600,001 60,600,000 gpos 50
8 q 12.2 3493 3622 60,600,001 61,300,000 gneg
8 q 12.3 3622 3809 61,300,001 65,100,000 gpos 50
8 q 13.1 3809 3938 65,100,001 67,100,000 gneg
8 q 13.2 3938 4096 67,100,001 69,600,000 gpos 50
8 q 13.3 4096 4312 69,600,001 72,000,000 gneg
8 q 21.11 4312 4545 7,200,0001 74,600,000 gpos 100
8 q 21.12 4545 4628 74,600,001 74,700,000 gneg
8 q 21.13 4628 4858 74,700,001 83,500,000 gpos 75
8 q 21.2 4858 4959 83,500,001 85,900,000 gneg
8 q 21.3 4959 5289 85,900,001 92,300,000 gpos 100
8 q 22.1 5289 5577 92,300,001 97,900,000 gneg
8 q 22.2 5577 5692 97,900,001 100,500,000 gpos 25
8 q 22.3 5692 5922 100,500,001 105,100,000 gneg
8 q 23.1 5922 6152 105,100,001 109,500,000 gpos 75
8 q 23.2 6152 6267 109,500,001 111,100,000 gneg
8 q 23.3 6267 6611 111,100,001 116,700,000 gpos 100
8 q 24.11 6611 6726 116,700,001 118,300,000 gneg
8 q 24.12 6726 6942 118,300,001 121,500,000 gpos 50
8 q 24.13 6942 7244 121,500,001 126,300,000 gneg
8 q 24.21 7244 7431 126,300,001 130,400,000 gpos 50
8 q 24.22 7431 7661 130,400,001 135,400,000 gneg
8 q 24.23 7661 7804 135,400,001 138,900,000 gpos 75
8 q 24.3 7804 8250 138,900,001 145,138,636 gneg

References

  1. ↑ "Human Genome Assembly GRCh38 - Genome Reference Consortium". National Center for Biotechnology Information. 2013-12-24. Retrieved 2017-03-04.
  2. ↑ 2.0 2.1 "Search results - 8[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene". NCBI. CCDS Release 20 for Homo sapiens. 2016-09-08. Retrieved 2017-05-28.
  3. ↑ Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics. Garland Science. p. 45. ISBN 978-1-136-84407-2.
  4. ↑ 4.0 4.1 4.2 Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
  5. ↑ 5.0 5.1 Tabarés-Seisdedos R, Rubenstein JL; Rubenstein (2009). "Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer". Mol Psychiatry. 14 (6): 563–89. doi:10.1038/mp.2009.2. PMID 19204725.
  6. ↑ Pertea M, Salzberg SL (2010). "Between a chicken and a grape: estimating the number of human genes". Genome Biol. 11 (5): 206. doi:10.1186/gb-2010-11-5-206. PMC 2898077. PMID 20441615.
  7. ↑ "Statistics & Downloads for chromosome 8". HUGO Gene Nomenclature Committee. 2017-05-12. Retrieved 2017-05-19.
  8. ↑ "Chromosome 8: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19.
  9. ↑ "Search results - 8[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
  10. ↑ "Search results - 8[CHR] AND "Homo sapiens"[Organism] AND ( ("genetype miscrna"[Properties] OR "genetype ncrna"[Properties] OR "genetype rrna"[Properties] OR "genetype trna"[Properties] OR "genetype scrna"[Properties] OR "genetype snrna"[Properties] OR "genetype snorna"[Properties]) NOT "genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
  11. ↑ "Search results - 8[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
  12. ↑ Blouin JL, Dombroski BA, Nath SK, et al. (September 1998). "Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21". Nat. Genet. 20 (1): 70–3. doi:10.1038/1734. PMID 9731535.
  13. ↑ Gurling HM, Kalsi G, Brynjolfson J, et al. (March 2001). "Genomewide genetic linkage analysis confirms the presence of susceptibility loci for schizophrenia, on chromosomes 1q32.2, 5q33.2, and 8p21-22 and provides support for linkage to schizophrenia, on chromosomes 11q23.3-24 and 20q12.1-11.23". Am. J. Hum. Genet. 68 (3): 661–73. doi:10.1086/318788. PMC 1274479. PMID 11179014.
  14. ↑ Suarez BK, Duan J, Sanders AR, et al. (February 2006). "Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample". Am. J. Hum. Genet. 78 (2): 315–33. doi:10.1086/500272. PMC 1380238. PMID 16400611.
  15. ↑ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26.
  16. ↑ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26.
  17. ↑ International Standing Committee on Human Cytogenetic Nomenclature (2013). ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013). Karger Medical and Scientific Publishers. ISBN 978-3-318-02253-7.
  18. ↑ Sethakulvichai, W.; Manitpornsut, S.; Wiboonrat, M.; Lilakiatsakun, W.; Assawamakin, A.; Tongsima, S. (2012). "Estimation of band level resolutions of human chromosome images" (PDF). In Computer Science and Software Engineering (JCSSE), 2012 International Joint Conference on: 276–282. doi:10.1109/JCSSE.2012.6261965.
  19. ↑ "p": Short arm; "q": Long arm.
  20. ↑ For cytogenetic banding nomenclature, see article locus.
  21. ↑ 21.0 21.1 These values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An International System for Human Cytogenetic Nomenclature (2013). Arbitrary unit.
  22. ↑ gpos: Region which is positively stained by G banding, generally AT-rich and gene poor; gneg: Region which is negatively stained by G banding, generally CG-rich and gene rich; acen Centromere. var: Variable region; stalk: Stalk.

External links

  • National Institutes of Health. "Chromosome 8". Genetics Home Reference. Retrieved 2017-05-06.
  • "Chromosome 8". Human Genome Project Information Archive 1990–2003. Retrieved 2017-05-06.
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