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Chromosome 2

Fusion of ancestral chromosomes left distinctive remnants of telomeres, and a vestigial centromere

Chromosome 2 is one of the twenty-three pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 is the second-largest human chromosome, spanning more than 242 million base pairs[4] and representing almost eight percent of the total DNA in human cells.

Chromosome 2 contains the HOXD homeobox gene cluster.[5]

Chromosomes

Humans have only twenty-three pairs of chromosomes, while all other extant members of Hominidae have twenty-four pairs.[6] It is believed that Neanderthals and Denisovans had twenty-three pairs.[6]

Human chromosome 2 is a result of an end-to-end fusion of two ancestral chromosomes.[7][8][9] The evidence for this includes:

We conclude that the locus cloned in cosmids c8.1 and c29B is the relic of an ancient telomere-telomere fusion and marks the point at which two ancestral ape chromosomes fused to give rise to human chromosome 2.

— Jacob W. Ijdo[13]

Genes

Number of genes

The following are some of the gene count estimates of human chromosome 2. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome vary. 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.[14]

List of genes

The following is a partial list of genes on human chromosome 2. For complete list, see the link in the infobox on the right.

p-arm

Partial list of the genes located on p-arm (short arm) of human chromosome 2:

q-arm

Partial list of the genes located on q-arm (long arm) of human chromosome 2:

Related disorders and traits

The following diseases and traits are related to genes located on chromosome 2:

Cytogenetic band

G-banding ideograms of human chromosome 2

References

  1. ^ a b "Search results – 2[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) – Gene". NCBI. CCDS Release 20 for Homo sapiens. 8 September 2016. Retrieved 28 May 2017.
  2. ^ Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics. Garland Science. p. 45. ISBN 978-1-136-84407-2.
  3. ^ 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.
  4. ^ Hillier; et al. (2005). "Generation and annotation of the DNAD sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. Bibcode:2005Natur.434..724H. doi:10.1038/nature03466. PMID 15815621.
  5. ^ Vega Homo sapiens genome browser: HoxD cluster on Chromosome 2
  6. ^ a b Meyer M, Kircher M, Gansauge MT, Li H, Racimo F, Mallick S, et al. (October 2012). "A high-coverage genome sequence from an archaic Denisovan individual". Science. 338 (6104): 222–6. Bibcode:2012Sci...338..222M. doi:10.1126/science.1224344. PMC 3617501. PMID 22936568.
  7. ^ It has been hypothesized that Human Chromosome 2 is a fusion of two ancestral chromosomes by Alec MacAndrew; accessed 18 May 2006.
  8. ^ "Chromosome 2 in the Great Apes – YouTube". Archived from the original on 21 December 2021. Retrieved 24 July 2020 – via YouTube.
  9. ^ "Chromosome 2--Re-Upload – YouTube". Archived from the original on 21 December 2021. Retrieved 24 July 2020 – via YouTube.
  10. ^ Yunis and Prakash; Prakash, O (1982). "The origin of man: a chromosomal pictorial legacy". Science. 215 (4539): 1525–30. Bibcode:1982Sci...215.1525Y. doi:10.1126/science.7063861. PMID 7063861.
  11. ^ Human and Ape Chromosomes Archived 6 September 2017 at the Wayback Machine; accessed 8 September 2007.
  12. ^ Avarello; et al. (1992). "Evidence for an ancestral alphoid domain on the long arm of human chromosome 2". Human Genetics. 89 (2): 247–9. doi:10.1007/BF00217134. PMID 1587535. S2CID 1441285.
  13. ^ a b Ijdo, Jacob W.; et al. (1991). "Origin of human chromosome 2: an ancestral telomere-telomere fusion". Proc. Natl. Acad. Sci. U.S.A. 88 (20): 9051–5. Bibcode:1991PNAS...88.9051I. doi:10.1073/pnas.88.20.9051. PMC 52649. PMID 1924367.
  14. ^ 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.
  15. ^ "Statistics & Downloads for chromosome 2". HUGO Gene Nomenclature Committee. 12 May 2017. Archived from the original on 29 June 2017. Retrieved 19 May 2017.
  16. ^ "Chromosome 2: Chromosome summary – Homo sapiens". Ensembl Release 88. 29 March 2017. Retrieved 19 May 2017.
  17. ^ "Human chromosome 2: entries, gene names and cross-references to MIM". UniProt. 28 February 2018. Retrieved 16 March 2018.
  18. ^ "Search results – 2[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) – Gene". NCBI. 19 May 2017. Retrieved 20 May 2017.
  19. ^ "Search results – 2[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. 19 May 2017. Retrieved 20 May 2017.
  20. ^ "Search results – 2[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) – Gene". NCBI. 19 May 2017. Retrieved 20 May 2017.
  21. ^ Swaminathan, Nikhil. "Largest Ever Autism Study Identifies Two Genetic Culprits". Scientific American. Retrieved 25 January 2018.
  22. ^ "Cleft Chin | AncestryDNA® Traits Learning Hub". ancestry.com. Retrieved 22 February 2022.
  23. ^ Shelihan, I.; Ehresmann, S.; Magnani, C.; Forzano, F.; Baldo, C.; Brunetti-Pierri, N.; Campeau, P. M. (2018). "Lowry-Wood syndrome: Further evidence of association with RNU4ATAC, and correlation between genotype and phenotype". Human Genetics. 137 (11–12): 905–909. doi:10.1007/s00439-018-1950-8. PMID 30368667. S2CID 53079178.
  24. ^ "Photic Sneeze Reflex | AncestryDNA® Traits Learning Hub". ancestry.com. Retrieved 22 February 2022.
  25. ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26.
  26. ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26.
  27. ^ 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.
  28. ^ 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.
  29. ^ "p": Short arm; "q": Long arm.
  30. ^ For cytogenetic banding nomenclature, see article locus.
  31. ^ 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.
  32. ^ 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

Wikimedia Commons has media related to Human chromosome 2.