Chromosome 8
Template:Short description Template:Infobox chromosome 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.[1]
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.[1]
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.[2]
| Estimated by | Protein-coding genes | Non-coding RNA genes | Pseudogenes | Source | Release date |
|---|---|---|---|---|---|
| CCDS | 646 | — | — | [3] | 2016-09-08 |
| HGNC | 656 | 242 | 539 | [4] | 2017-05-12 |
| Ensembl | 670 | 1,052 | 613 | [5] | 2017-03-29 |
| UniProt | 703 | — | — | [6] | 2018-02-28 |
| NCBI | 719 | 848 | 682 | [7][8][9] | 2017-05-19 |
Gene list
Script error: No such module "Category see also".Template:Category see also/Category pair check The following is a partial list of genes on human chromosome 8. For complete list, see the link in the infobox on the right. Script error: No such module "Template wrapper".Script error: No such module "Check for unknown parameters".
Diseases and disorders
The following diseases and disorders are some of those related to genes on chromosome 8:
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- 8p23.1 duplication syndrome
- Bipolar disorder
- Burkitt lymphoma
- Charcot–Marie–Tooth disease
- COACH syndrome
- Cleft lip and cleft palate
- Cohen syndrome
- Congenital hypothyroidism
- Fahr's syndrome
- Hereditary multiple exostoses
- Lipoprotein lipase deficiency, familial
- Monosomy 8p[10]
- Myelodysplastic syndrome
- Pfeiffer syndrome
- Primary microcephaly
- Rothmund–Thomson syndrome
- Schizophrenia, associated with 8p21-22 locus[11][12][13]
- Waardenburg syndrome
- Werner syndrome
- Pingelapese blindness
- Langer–Giedion syndrome
- Roberts syndrome
- Hepatocellular carcinoma
- Sanfilippo syndrome
Cytogenetic band
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| Chr. | Arm[15] | Band[16] | ISCN start[17] |
ISCN stop[17] |
Basepair start |
Basepair stop |
Stain[18] | Density |
|---|---|---|---|---|---|---|---|---|
| 8 | p | 23.3 | 0 | 115 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 8 | p | 23.2 | 115 | 331 | Script error: No such module "val". | Script error: No such module "val". | gpos | 75 |
| 8 | p | 23.1 | 331 | 690 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 8 | p | 22 | 690 | 992 | Script error: No such module "val". | Script error: No such module "val". | gpos | 100 |
| 8 | p | 21.3 | 992 | 1179 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 8 | p | 21.2 | 1179 | 1380 | Script error: No such module "val". | Script error: No such module "val". | gpos | 50 |
| 8 | p | 21.1 | 1380 | 1639 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 8 | p | 12 | 1639 | 1897 | Script error: No such module "val". | Script error: No such module "val". | gpos | 75 |
| 8 | p | 11.23 | 1897 | 2041 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 8 | p | 11.22 | 2041 | 2156 | Script error: No such module "val". | Script error: No such module "val". | gpos | 25 |
| 8 | p | 11.21 | 2156 | 2343 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 8 | p | 11.1 | 2343 | 2472 | Script error: No such module "val". | Script error: No such module "val". | acen | |
| 8 | q | 11.1 | 2472 | 2645 | Script error: No such module "val". | Script error: No such module "val". | acen | |
| 8 | q | 11.21 | 2645 | 2817 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 8 | q | 11.22 | 2817 | 3033 | Script error: No such module "val". | Script error: No such module "val". | gpos | 75 |
| 8 | q | 11.23 | 3033 | 3277 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 8 | q | 12.1 | 3277 | 3493 | Script error: No such module "val". | Script error: No such module "val". | gpos | 50 |
| 8 | q | 12.2 | 3493 | 3622 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 8 | q | 12.3 | 3622 | 3809 | Script error: No such module "val". | Script error: No such module "val". | gpos | 50 |
| 8 | q | 13.1 | 3809 | 3938 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 8 | q | 13.2 | 3938 | 4096 | Script error: No such module "val". | Script error: No such module "val". | gpos | 50 |
| 8 | q | 13.3 | 4096 | 4312 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 8 | q | 21.11 | 4312 | 4545 | Script error: No such module "val". | Script error: No such module "val". | gpos | 100 |
| 8 | q | 21.12 | 4545 | 4628 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 8 | q | 21.13 | 4628 | 4858 | Script error: No such module "val". | Script error: No such module "val". | gpos | 75 |
| 8 | q | 21.2 | 4858 | 4959 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 8 | q | 21.3 | 4959 | 5289 | Script error: No such module "val". | Script error: No such module "val". | gpos | 100 |
| 8 | q | 22.1 | 5289 | 5577 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 8 | q | 22.2 | 5577 | 5692 | Script error: No such module "val". | Script error: No such module "val". | gpos | 25 |
| 8 | q | 22.3 | 5692 | 5922 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 8 | q | 23.1 | 5922 | 6152 | Script error: No such module "val". | Script error: No such module "val". | gpos | 75 |
| 8 | q | 23.2 | 6152 | 6267 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 8 | q | 23.3 | 6267 | 6611 | Script error: No such module "val". | Script error: No such module "val". | gpos | 100 |
| 8 | q | 24.11 | 6611 | 6726 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 8 | q | 24.12 | 6726 | 6942 | Script error: No such module "val". | Script error: No such module "val". | gpos | 50 |
| 8 | q | 24.13 | 6942 | 7244 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 8 | q | 24.21 | 7244 | 7431 | Script error: No such module "val". | Script error: No such module "val". | gpos | 50 |
| 8 | q | 24.22 | 7431 | 7661 | Script error: No such module "val". | Script error: No such module "val". | gneg | |
| 8 | q | 24.23 | 7661 | 7804 | Script error: No such module "val". | Script error: No such module "val". | gpos | 75 |
| 8 | q | 24.3 | 7804 | 8250 | Script error: No such module "val". | Script error: No such module "val". | gneg |
References
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- ↑ "p": Short arm; "q": Long arm.
- ↑ For cytogenetic banding nomenclature, see article locus.
- ↑ 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.
- ↑ 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.
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External links
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