Английская Википедия:Chromosome 6
Шаблон:Short description Шаблон:Infobox chromosome 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 172 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.
The evolution of human centromere 6
The centromere of chromosome 6 illustrates an interestingШаблон:To whom example of centromere evolution. It was knownШаблон:Explain that in a Catarrhini ancestor the chromosome 6 centromere was situated near position 26 Mb of the modern human chromosome. In Macaca mulatta, this old centromere went defunct and repositioned to a different chromosomal locationШаблон:Relevance. In case of humans, the old centromere went defunct and a more recent form emerged near the modern position of human cen6 (size of 60 Mb). Such cases are known as Evolutionary New Centromeres (ENC). This assembly phenomenon of the human chromosome 6 gives researchers an opportunity to investigate the origin of the ENC on chromosome 6. [1]
Genes
The human leukocyte antigen lies on chromosome 6, with the exception of the gene for β2-microglobulin (which is located on chromosome 15), and encodes cell-surface antigen-presenting proteins among other functions.
Number of genes
In 2003, the entirety of chromosome 6 was manually annotated for proteins, resulting in the identification of 1,557 genes, and 633 pseudogenes.[2]
The following are some of the newer gene count estimates. 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.[3]
| Estimated by | Protein-coding genes | Non-coding RNA genes | Pseudogenes | Source | Release date |
|---|---|---|---|---|---|
| CCDS | 996 | — | — | [4] | 2016-09-08 |
| HGNC | 1,007 | 422 | 736 | [5] | 2017-05-12 |
| Ensembl | 1,038 | 985 | 800 | [6] | 2017-03-29 |
| UniProt | 1,111 | — | — | [7] | 2018-02-28 |
| NCBI | 1,053 | 1,188 | 911 | [8][9][10] | 2017-05-19 |
Gene list
Шаблон:Category see also The following is a partial list of genes on human chromosome 6. For complete list, see the link in the infobox on the right.
p-arm
The following are some of the genes located on p-arm (short arm) of human chromosome 6: Шаблон:Columns-list
q-arm
The following are some of the genes located on q-arm (long arm) of human chromosome 6: Шаблон:Columns-list
Diseases and disorders
The following diseases are some of those related to genes on chromosome 6: Шаблон:Div col
- 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
- North Carolina macular dystrophy
- otospondylomegaepiphyseal dysplasia
- Parkinson disease
- polycystic kidney disease
- porphyria
- porphyria cutanea tarda
- Rheumatoid arthritis, HLA-DR
- CIRS (Chronic Inflammatory Response Syndrome ), Sick Building Syndrome, Mold Toxin Susceptibility / Poisoning, HLA-DR/DQ
- Spinocerebellar ataxia type 1, ATXN1
- 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
- Schizophrenia
Cytogenetic band
| Chr. | Arm[12] | Band[13] | ISCN start[14] |
ISCN stop[14] |
Basepair start |
Basepair stop |
Stain[15] | Density |
|---|---|---|---|---|---|---|---|---|
| 6 | p | 25.3 | 0 | 118 | Шаблон:Val | Шаблон:Val | gneg | |
| 6 | p | 25.2 | 118 | 207 | Шаблон:Val | Шаблон:Val | gpos | 25 |
| 6 | p | 25.1 | 207 | 355 | Шаблон:Val | Шаблон:Val | gneg | |
| 6 | p | 24.3 | 355 | 548 | Шаблон:Val | Шаблон:Val | gpos | 50 |
| 6 | p | 24.2 | 548 | 592 | Шаблон:Val | Шаблон:Val | gneg | |
| 6 | p | 24.1 | 592 | 740 | Шаблон:Val | Шаблон:Val | gpos | 25 |
| 6 | p | 23 | 740 | 844 | Шаблон:Val | Шаблон:Val | gneg | |
| 6 | p | 22.3 | 844 | 1185 | Шаблон:Val | Шаблон:Val | gpos | 75 |
| 6 | p | 22.2 | 1185 | 1348 | Шаблон:Val | Шаблон:Val | gneg | |
| 6 | p | 22.1 | 1348 | 1585 | Шаблон:Val | Шаблон:Val | gpos | 50 |
| 6 | p | 21.33 | 1585 | 1718 | Шаблон:Val | Шаблон:Val | gneg | |
| 6 | p | 21.32 | 1718 | 1836 | Шаблон:Val | Шаблон:Val | gpos | 25 |
| 6 | p | 21.31 | 1836 | 2162 | Шаблон:Val | Шаблон:Val | gneg | |
| 6 | p | 21.2 | 2162 | 2310 | Шаблон:Val | Шаблон:Val | gpos | 25 |
| 6 | p | 21.1 | 2310 | 2755 | Шаблон:Val | Шаблон:Val | gneg | |
| 6 | p | 12.3 | 2755 | 3080 | Шаблон:Val | Шаблон:Val | gpos | 100 |
| 6 | p | 12.2 | 3080 | 3140 | Шаблон:Val | Шаблон:Val | gneg | |
| 6 | p | 12.1 | 3140 | 3377 | Шаблон:Val1 | Шаблон:Val | gpos | 100 |
| 6 | p | 11.2 | 3377 | 3421 | Шаблон:Val | Шаблон:Val | gneg | |
| 6 | p | 11.1 | 3421 | 3554 | Шаблон:Val | Шаблон:Val | acen | |
| 6 | q | 11.1 | 3554 | 3658 | Шаблон:Val | Шаблон:Val | acen | |
| 6 | q | 11.2 | 3658 | 3732 | Шаблон:Val | Шаблон:Val | gneg | |
| 6 | q | 12 | 3732 | 4147 | Шаблон:Val | Шаблон:Val | gpos | 100 |
| 6 | q | 13 | 4147 | 4324 | Шаблон:Val | Шаблон:Val | gneg | |
| 6 | q | 14.1 | 4324 | 4621 | Шаблон:Val | Шаблон:Val | gpos | 50 |
| 6 | q | 14.2 | 4621 | 4709 | Шаблон:Val | Шаблон:Val | gneg | |
| 6 | q | 14.3 | 4709 | 4917 | Шаблон:Val | Шаблон:Val | gpos | 50 |
| 6 | q | 15 | 4917 | 5228 | Шаблон:Val | Шаблон:Val | gneg | |
| 6 | q | 16.1 | 5228 | 5613 | Шаблон:Val | Шаблон:Val | gpos | 100 |
| 6 | q | 16.2 | 5613 | 5687 | Шаблон:Val | Шаблон:Val | gneg | |
| 6 | q | 16.3 | 5687 | 5983 | Шаблон:Val1 | Шаблон:Val | gpos | 100 |
| 6 | q | 21 | 5983 | 6531 | Шаблон:Val1 | Шаблон:Val | gneg | |
| 6 | q | 22.1 | 6531 | 6753 | Шаблон:Val | Шаблон:Val | gpos | 75 |
| 6 | q | 22.2 | 6753 | 6872 | Шаблон:Val | Шаблон:Val | gneg | |
| 6 | q | 22.31 | 6872 | 7168 | Шаблон:Val | Шаблон:Val | gpos | 100 |
| 6 | q | 22.32 | 7168 | 7345 | Шаблон:Val | Шаблон:Val | gneg | |
| 6 | q | 22.33 | 7345 | 7642 | Шаблон:Val | Шаблон:Val | gpos | 75 |
| 6 | q | 23.1 | 7642 | 7923 | Шаблон:Val1 | Шаблон:Val | gneg | |
| 6 | q | 23.2 | 7923 | 8145 | Шаблон:Val | Шаблон:Val | gpos | 50 |
| 6 | q | 23.3 | 8145 | 8352 | Шаблон:Val | Шаблон:Val | gneg | |
| 6 | q | 24.1 | 8352 | 8560 | Шаблон:Val | Шаблон:Val | gpos | 75 |
| 6 | q | 24.2 | 8560 | 8708 | Шаблон:Val | Шаблон:Val | gneg | |
| 6 | q | 24.3 | 8708 | 8886 | Шаблон:Val | Шаблон:Val | gpos | 75 |
| 6 | q | 25.1 | 8886 | 9078 | Шаблон:Val | Шаблон:Val | gneg | |
| 6 | q | 25.2 | 9078 | 9241 | Шаблон:Val | Шаблон:Val | gpos | 50 |
| 6 | q | 25.3 | 9241 | 9596 | Шаблон:Val | Шаблон:Val | gneg | |
| 6 | q | 26 | 9596 | 9774 | Шаблон:Val | Шаблон:Val | gpos | 50 |
| 6 | q | 27 | 9774 | 10100 | Шаблон:Val | Шаблон:Val | gneg |
References
- Notes
- Some text in this article was taken from http://ghr.nlm.nih.gov/chromosome=6 Шаблон:Webarchive (public domain)
Further reading
External links
- Шаблон:Cite web
- Шаблон:Cite web
- "Chromosome 6 Research Project". Parent-driven research for genotype-phenotype studies on chromosome 6 disorders. Retrieved 2017-06-17
Шаблон:Chromosomes Шаблон:Chromosome genetics
- ↑ Шаблон:Cite journal
- ↑ Шаблон:Cite journal
- ↑ Шаблон:Cite journal
- ↑ Шаблон:Cite web
- ↑ Шаблон:Cite web
- ↑ Шаблон:Cite web
- ↑ Шаблон:Cite web
- ↑ Шаблон:Cite web
- ↑ Шаблон:Cite web
- ↑ Шаблон:Cite web
- ↑ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
- ↑ "p": Short arm; "q": Long arm.
- ↑ For cytogenetic banding nomenclature, see article locus.
- ↑ 14,0 14,1 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.
- ↑ 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.
