Chromosome 8

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]

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)	145,138,636 bp (GRCh38)[1]
No. of genes	646 (CCDS)[2]
Type	Autosome
Centromere position	Submetacentric[3] (45.2 Mbp[4])
Complete gene lists
CCDS	Gene list
HGNC	Gene list
UniProt	Gene list
NCBI	Gene list
External map viewers
Ensembl	Chromosome 8
Entrez	Chromosome 8
NCBI	Chromosome 8
UCSC	Chromosome 8
Full DNA sequences
RefSeq	NC_000008 (FASTA)
GenBank	CM000670 (FASTA)

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

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

• 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:

• 8p23.1 duplication syndrome
• Burkitt's lymphoma
• Charcot-Marie-Tooth disease
• COACH Syndrome
• Cleft lip and palate
• Cohen syndrome
• Congenital hypothyroidism
• Fahr's syndrome
• Hereditary Multiple Exostoses
• Lipoprotein lipase deficiency, familial
• Myelodysplastic syndrome
• Pfeiffer syndrome
• Primary microcephaly
• Rothmund-Thomson syndrome
• Schizophrenia, associated with 8p21-22 locus[13][14][15]
• Waardenburg syndrome
• Werner syndrome
• Pingelapese blindness
• Langer-Giedion syndrome
• Roberts Syndrome
• Hepatocellular carcinoma
• Sanfilippo syndrome

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	2,900,0001	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	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. "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. Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
5. 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. 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.
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". In Computer Science and Software Engineering (JCSSE), 2012 International Joint Conference on: 276–282. doi:10.1109/JCSSE.2012.6261965. ISBN 978-1-4673-1921-8.
20. "p": Short arm; "q": Long arm.
21. For cytogenetic banding nomenclature, see article locus.
22. 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.

• Gilbert F (2001). "Chromosome 8". Genet Test. 5 (4): 345–54. doi:10.1089/109065701753617516. PMID 11960583.
• Nusbaum C; et al. (2006). "DNA sequence and analysis of human chromosome 8". Nature. 439 (7074): 331–5. Bibcode:2006Natur.439..331N. doi:10.1038/nature04406. PMID 16421571.

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.