Chromosome 8
Human chromosome 8 pair after G-banding.
One is from mother, one is from father.
Chromosome 8 pair
in human male karyogram.
Features
Length (bp)146,259,331
(CHM13)[1]
No. of genes646 (CCDS)[2]
TypeAutosome
Centromere positionSubmetacentric[3]
(45.2 Mbp[4])
Complete gene lists
CCDSGene list
HGNCGene list
UniProtGene list
NCBIGene list
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 146 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

Number of genes

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
UniProt 703 — — [9] 2018-02-28
NCBI 719 848 682 [10][11][12] 2017-05-19

Gene list

See also: Category:Genes on human chromosome 8

The following is a partial list of genes on human chromosome 8. For complete list, see the link in the infobox on the right.

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
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).
G-banding patterns of human chromosome 8 in three different resolutions (400,[16] 550[17] and 850[4]). Band length in this diagram is based on the ideograms from ISCN (2013).[18] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process.[19]
G-bands of human chromosome 8 in resolution 850 bphs[4]
Chr. Arm[20] Band[21] ISCN
start[22] 		ISCN
stop[22] 		Basepair
start 		Basepair
stop 		Stain[23] Density
8 p 23.3 0 115 1 2,300,000 gneg
8 p 23.2 115 331 2,300,001 6,300,000 gpos 75
8 p 23.1 331 690 6,300,001 12,800,000 gneg
8 p 22 690 992 12,800,001 19,200,000 gpos 100
8 p 21.3 992 1179 19,200,001 23,500,000 gneg
8 p 21.2 1179 1380 23,500,001 27,500,000 gpos 50
8 p 21.1 1380 1639 27,500,001 29,000,000 gneg
8 p 12 1639 1897 29,000,001 36,700,000 gpos 75
8 p 11.23 1897 2041 36,700,001 38,500,000 gneg
8 p 11.22 2041 2156 38,500,001 39,900,000 gpos 25
8 p 11.21 2156 2343 39,900,001 43,200,000 gneg
8 p 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 72,000,001 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. ^ "Homo sapiens isolate CHM13 chromosome 8". National Library of Medicine /accessdate=2023-01-13. 4 April 2022.
  2. ^ a b "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. ^ a b c Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
  5. ^ a b 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. S2CID 11118479.
  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. Archived from the original on 2017-10-26. Retrieved 2017-05-19.
  8. ^ "Chromosome 8: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Archived from the original on 2019-12-03. Retrieved 2017-05-19.
  9. ^ "Human chromosome 8: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16.
  10. ^ "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.
  11. ^ "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.
  12. ^ "Search results - 8[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
  13. ^ 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. S2CID 52804924.
  14. ^ 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.
  15. ^ 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.
  16. ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26.
  17. ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26.
  18. ^ 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.
  19. ^ Sethakulvichai, W.; Manitpornsut, S.; Wiboonrat, M.; Lilakiatsakun, W.; Assawamakin, A.; Tongsima, S. (2012). "Estimation of band level resolutions of human chromosome images". 2012 Ninth International Conference on Computer Science and Software Engineering (JCSSE). pp. 276–282. doi:10.1109/JCSSE.2012.6261965. ISBN 978-1-4673-1921-8. S2CID 16666470.
  20. ^ "p": Short arm; "q": Long arm.
  21. ^ For cytogenetic banding nomenclature, see article locus.
  22. ^ a b 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.
  23. ^ 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

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