Chromosome 1 (human)

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Template:Infobox chromosome Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 spans about 249 million nucleotide base pairs, which are the basic units of information for DNA.[1] It represents about 8% of the total DNA in human cells.[2]

It was the last completed chromosome, sequenced two decades after the beginning of the Human Genome Project.

Genes

Template:Category see also

Number of genes

The following are some of the gene count estimates of human chromosome 1. 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 1,961 - - [4] 2016-09-08
HGNC 1,993 707 1,113 [5] 2017-05-12
Ensembl 2,044 1,924 1,223 [6] 2017-03-29
NCBI 2,093 1,790 1,426 [7][8][9] 2017-05-19

Some genes needing arm identification:

p-arm

The following are some of the genes located on p-arm (short arm) of human chromosome 1:

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q-arm

The following are some of the genes located on q-arm (long arm) of human chromosome 1:

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Diseases and disorders

There are 890 known diseases related to this chromosome.Template:Cn Some of these diseases are hearing loss, Alzheimer disease, glaucoma and breast cancer. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. The following diseases are some of those related to genes on chromosome 1 (which contains the most known genetic diseases of any human chromosome):

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Cytogenetic band

G-banding ideograms of human chromosome 1

G-banding ideogram of human chromosome 1 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 1 in three different resolutions (400,[10] 550[11] and 850[12]). Band length in this diagram is based on the ideograms from ISCN (2013).[13] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process.[14]
G-bands of human chromosome 1 in resolution 850 bphs[15]
Chr. Arm[16] Band[17] ISCN
start[18]
ISCN
stop[18]
Basepair
start
Basepair
stop
Stain[19] Density
1 p 36.33 0 100 Template:Val/delimitnum Template:Val/delimitnum gneg
1 p 36.32 100 244 Template:Val/delimitnum Template:Val/delimitnum gpos 25
1 p 36.31 244 344 Template:Val/delimitnum Template:Val/delimitnum gneg
1 p 36.23 344 459 Template:Val/delimitnum Template:Val/delimitnum gpos 25
1 p 36.22 459 660 Template:Val/delimitnum Template:Val/delimitnum gneg
1 p 36.21 660 861 Template:Val/delimitnum Template:Val/delimitnum gpos 50
1 p 36.13 861 1206 Template:Val/delimitnum Template:Val/delimitnum gneg
1 p 36.12 1206 1321 Template:Val/delimitnum Template:Val/delimitnum gpos 25
1 p 36.11 1321 1521 Template:Val/delimitnum Template:Val/delimitnum gneg
1 p 35.3 1521 1651 Template:Val/delimitnum Template:Val/delimitnum gpos 25
1 p 35.2 1651 1780 Template:Val/delimitnum Template:Val/delimitnum gneg
1 p 35.1 1780 1895 Template:Val/delimitnum Template:Val/delimitnum gpos 25
1 p 34.3 1895 2210 Template:Val/delimitnum Template:Val/delimitnum gneg
1 p 34.2 2210 2411 Template:Val/delimitnum Template:Val/delimitnum gpos 25
1 p 34.1 2411 2770 Template:Val/delimitnum Template:Val/delimitnum gneg
1 p 33 2770 2986 Template:Val/delimitnum Template:Val/delimitnum gpos 75
1 p 32.3 2986 3273 Template:Val/delimitnum Template:Val/delimitnum gneg
1 p 32.2 3273 3416 Template:Val/delimitnum Template:Val/delimitnum gpos 50
1 p 32.1 3416 3732 Template:Val/delimitnum Template:Val/delimitnum gneg
1 p 31.3 3732 3976 Template:Val/delimitnum Template:Val/delimitnum gpos 50
1 p 31.2 3976 4206 Template:Val/delimitnum Template:Val/delimitnum gneg
1 p 31.1 4206 4852 Template:Val/delimitnum Template:Val/delimitnum gpos 100
1 p 22.3 4852 5210 Template:Val/delimitnum Template:Val/delimitnum gneg
1 p 22.2 5210 5440 Template:Val/delimitnum Template:Val/delimitnum gpos 75
1 p 22.1 5440 5741 Template:Val/delimitnum Template:Val/delimitnum gneg
1 p 21.3 5741 5957 Template:Val/delimitnum Template:Val/delimitnum gpos 75
1 p 21.2 5957 6029 Template:Val/delimitnum Template:Val/delimitnum gneg
1 p 21.1 6029 6244 Template:Val/delimitnum Template:Val/delimitnum gpos 100
1 p 13.3 6244 6459 Template:Val/delimitnum Template:Val/delimitnum gneg
1 p 13.2 6459 6660 Template:Val/delimitnum Template:Val/delimitnum gpos 50
1 p 13.1 6660 6861 Template:Val/delimitnum Template:Val/delimitnum gneg
1 p 12 6861 7048 Template:Val/delimitnum Template:Val/delimitnum gpos 50
1 p 11.2 7048 7119 Template:Val/delimitnum Template:Val/delimitnum gneg
1 p 11.1 7119 7335 Template:Val/delimitnum Template:Val/delimitnum acen
1 q 11 7335 7579 Template:Val/delimitnum Template:Val/delimitnum acen
1 q 12 7579 8483 Template:Val/delimitnum Template:Val/delimitnum gvar
1 q 21.1 8483 8756 Template:Val/delimitnum Template:Val/delimitnum gneg
1 q 21.2 8756 8957 Template:Val/delimitnum Template:Val/delimitnum gpos 50
1 q 21.3 8957 9244 Template:Val/delimitnum Template:Val/delimitnum gneg
1 q 22 9244 9459 Template:Val/delimitnum Template:Val/delimitnum gpos 50
1 q 23.1 9459 9832 Template:Val/delimitnum Template:Val/delimitnum gneg
1 q 23.2 9832 10048 Template:Val/delimitnum Template:Val/delimitnum gpos 50
1 q 23.3 10048 10349 Template:Val/delimitnum Template:Val/delimitnum gneg
1 q 24.1 10349 10507 Template:Val/delimitnum Template:Val/delimitnum gpos 50
1 q 24.2 10507 10679 Template:Val/delimitnum Template:Val/delimitnum gneg
1 q 24.3 10679 10894 Template:Val/delimitnum Template:Val/delimitnum gpos 75
1 q 25.1 10894 11009 Template:Val/delimitnum Template:Val/delimitnum gneg
1 q 25.2 11009 11196 Template:Val/delimitnum Template:Val/delimitnum gpos 50
1 q 25.3 11196 11598 Template:Val/delimitnum Template:Val/delimitnum gneg
1 q 31.1 11598 11827 Template:Val/delimitnum Template:Val/delimitnum gpos 100
1 q 31.2 11827 11942 Template:Val/delimitnum Template:Val/delimitnum gneg
1 q 31.3 11942 12172 Template:Val/delimitnum Template:Val/delimitnum gpos 100
1 q 32.1 12172 12617 Template:Val/delimitnum Template:Val/delimitnum gneg
1 q 32.2 12617 12803 Template:Val/delimitnum Template:Val/delimitnum gpos 25
1 q 32.3 12803 13033 Template:Val/delimitnum Template:Val/delimitnum gneg
1 q 41 13033 13320 Template:Val/delimitnum Template:Val/delimitnum gpos 100
1 q 42.11 13320 13406 Template:Val/delimitnum Template:Val/delimitnum gneg
1 q 42.12 13406 13607 Template:Val/delimitnum Template:Val/delimitnum gpos 25
1 q 42.13 13607 13966 Template:Val/delimitnum Template:Val/delimitnum gneg
1 q 42.2 13966 14153 Template:Val/delimitnum Template:Val/delimitnum gpos 50
1 q 42.3 14153 14397 Template:Val/delimitnum Template:Val/delimitnum gneg
1 q 43 14397 14756 Template:Val/delimitnum Template:Val/delimitnum gpos 75
1 q 44 14756 15100 Template:Val/delimitnum Template:Val/delimitnum gneg

References

  1. http://vega.sanger.ac.uk/Homo_sapiens/mapview?chr=1 Chromosome size and number of genes derived from this database, retrieved 2012-03-11.
  2. Gregory SG, Barlow KF, McLay KE; et al. (May 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. PMID 16710414. doi:10.1038/nature04727. 
  3. Pertea M, Salzberg SL (2010). "Between a chicken and a grape: estimating the number of human genes.". Genome Biol. 11 (5): 206. PMC 2898077Freely accessible. PMID 20441615. doi:10.1186/gb-2010-11-5-206. 
  4. "Search results - 1[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. 
  5. "Statistics & Downloads for chromosome 1". HUGO Gene Nomenclature Committee. 2017-05-12. Retrieved 2017-05-19. 
  6. "Chromosome 1: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. 
  7. "Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20. 
  8. "Search results - 1[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. 
  9. "Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20. 
  10. Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26.
  11. Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26.
  12. Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
  13. 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. 
  14. Sethakulvichai, W.; Manitpornsut, S.; Wiboonrat, M.; Lilakiatsakun, W.; Assawamakin, A.; Tongsima, S. (2012). "Estimation of band level resolutions of human chromosome images" (PDF). In Computer Science and Software Engineering (JCSSE), 2012 International Joint Conference on: 276–282. doi:10.1109/JCSSE.2012.6261965. 
  15. Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
  16. "p": Short arm; "q": Long arm.
  17. For cytogenetic banding nomenclature, see article locus.
  18. 18.0 18.1 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.
  19. 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.

Further reading

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External links

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