Hromosom 1

Hromosom 1
Par ljudskih hromosoma 1 nakon G-pruganja.jedan je od majke, drugi od oca.
Par hromosoma 1
u kariogramu mušlarca
Karakteristike
Dužina (bp)248,956,422 bp
(GRCh38)[1]
Br. gena1.961 (CCDS)[2]
VrstaAutosom
Pozicija centromereMetacentrik[3]
(123.4 Mbp[4])
Kompletan spisak gena
CCDSSpisak gena
HGNCSpisak gena
UniProtSpisak gena
NCBISpisak gena
Vanjski preglednici karata
EnsemblHromosom 1
EntrezHromosom 1
NCBIHromosom 1
UCSCHromosom 1
Potpune DNK sekvence
RefSeqNC_000001 (FASTA)
GenBankCM000663 (FASTA)

Hromosom 1 je oznaka za najveći ljudski hromosom. Ljudi imaju dvije kopije hromosoma 1, kao i svih autosoma, koji nisu spolni hromosomi. Hromosom 1 obuhvata oko 249 miliona nukleotidnih baznih parova, koji su osnovne jedinice informacija za DNK.[5] Predstavlja oko 8% ukupne DNK u ljudskim ćelijama.[6]

Bio je to posljednji završeni hromosom, sekvenciran dvije decenije nakon početka Projekta ljudskog genoma.

Hromosom 1 je najveći autosomni hromosom u kariotipu čovjeka koji je zajedno sa hromosomima 2 i 3 svrstan u grupu A. Prema položaju centromere pripada metacentričnim hromosomima (vidi sliku). Na dužem kraku (q krak), odmah ispod centromere hromosoma 1 nalazi se sekundarno suženje . Sastoji se od 263 miliona baznih parova (bp), što čini skoro 8% ukupne DNK genoma čovjeka.[7]

Geni

Broj gena

Slijede neke od procjena broja gena za ljudski hromosom 2. Budući da istraživači koriste različite pristupe genomu, njihovo predviđanje broja gena na svakom hromosomu varira. Među raznim projektima, zajednički Projekt konsenzusnog kodiranja (CCDS) zauzima izuzetno konzervativnu strategiju. Dakle, predviđanje broja gena po CCDS–u predstavlja donju granicu ukupnog broja gena koji kodiraju ljudske proteine.[8]

Baza podataka Protein-kodirajući geni Geni nekodirajuće RNK Pseudogeni Izvor Datum objave
CCDS
 1.961 — — [2] 2016-09-08
HGNC
 1.993 707 1.113 [9] 2017-05-12
Ensembl
 2.044 1.924 1.223 [10] 2017-03-29
UniProt
2.064 — — [11] 2018-02-28
NCBI
 2.093 1.790 1.426 [12][13][14] 2017-05-19

Lista gena

Slijedi djelimična lista gena na ljudskom hromosomu 1. Za kompletnu listu pogledajte link u infokutiji sa desne strane

p-krak

Djelimična lista gena na p-kraku (kratki krak) ljudskog hromosoma 1:

q-krak

Djelomična lista gena smještenih na dudgom q-kraku ljudskog hromosma 1:

Bolesti i poremećaji

Postoji 890 poznatih bolesti povezanih sa ovim hromosomom.Neke od ovih bolesti su gubitak sluha, Alzheimerova bolest, glaukom i rak dojke. Preuređenje i mutacije hromosoma 1 preovlađuju kod kancera i mnogih drugih bolesti. Obrasci varijacije sekvence otkrivaju signale nedavne selekcije u specifičnim genima koji mogu doprinijeti ljudskoj kondiciji, kao i u regijama u kojima nije vidljiva nikakva funkcija.

Potpuna monosomija (samo jedna kopija cijelog hromosoma) je uvijek smrtonosna prije rođenja.[15] Potpuna trisomija (sa tri kopije cijelog hromosoma) je smrtonosna u roku od nekoliko dana nakon začeća.[15] Neke djelimične delecije i djelimične duplikacije proizvode urođene mahane.

Sljedeće bolesti su neke od onih koje se odnose na gene na hromozomu 1 (koji sadrži najpoznatije genetičke bolesti bilo kojeg ljudskog hromosoma):

Citogenetičke pruge/bendovi

G-prigani idiogrami ljudskog hromosoma 1
G-prugani ideigram ljudskog hromosoma 1 u rezoluciji 850 bphs. Dužine pruga u ovom dijagramu proporcionalne su dužini baznog para. Ovaj tip idiagrama pogodan je za upotrebu za genomske pretraživače (npr. Ensembl, UCSC Genome Browser).
Obrasci G-pruga ljudskog hromosoma 1 u tri različite rezolicije (400,[16] 550[17] i 850[4]).Dužine pruga u ovom dijagramu baziraju se na idiogramima iz ISCN (2013).[18] Ovaj tip idiograma predstavlja date relativne dužine pod mikroskopom u različitim fazama tokom mitotskog procesa.[19]
G-prugani ljudski hromosom 1 u rezoluciji 850 bphs[4]
Hromosom Krak[20] Pruga[21] ISCN
start[22] 		ISCN
stop[22] 		Bazni par
start 		Bazni par
stop 		Boja[23] Gustoća
1 p 36.33 0 100 1 2.300.000 gneg
1 p 36.32 100 244 2.300.001 5.300.000 gpos 25
1 p 36.31 244 344 5.300.001 7.100.000 gneg
1 p 36.23 344 459 7.100.001 9.100.000 gpos 25
1 p 36.22 459 660 9.100.001 12.500.000 gneg
1 p 36.21 660 861 12.500.001 15.900.000 gpos 50
1 p 36.13 861 1206 15.900.001 20.100.000 gneg
1 p 36.12 1206 1321 20.100.001 23.600.000 gpos 25
1 p 36.11 1321 1521 23.600.001 27.600.000 gneg
1 p 35.3 1521 1651 27.600.001 29.900.000 gpos 25
1 p 35.2 1651 1780 29.900.001 32.300.000 gneg
1 p 35.1 1780 1895 32.300.001 34.300.000 gpos 25
1 p 34.3 1895 2210 34.300.001 39.600.000 gneg
1 p 34.2 2210 2411 39.600.001 43.700.000 gpos 25
1 p 34.1 2411 2770 43.700.001 46.300.000 gneg
1 p 33 2770 2986 46.300.001 50.200.000 gpos 75
1 p 32.3 2986 3273 50.200.001 55.600.000 gneg
1 p 32.2 3273 3416 55.600.001 58.500.000 gpos 50
1 p 32.1 3416 3732 58.500.001 60.800.000 gneg
1 p 31.3 3732 3976 60.800.001 68.500.000 gpos 50
1 p 31.2 3976 4206 68.500.001 69.300.000 gneg
1 p 31.1 4206 4852 69.300.001 84.400.000 gpos 100
1 p 22.3 4852 5210 84.400.001 87.900.000 gneg
1 p 22.2 5210 5440 87.900.001 91.500.000 gpos 75
1 p 22.1 5440 5741 91.500.001 94.300.000 gneg
1 p 21.3 5741 5957 94.300.001 99.300.000 gpos 75
1 p 21.2 5957 6029 99.300.001 101.800.000 gneg
1 p 21.1 6029 6244 101.800.001 106.700.000 gpos 100
1 p 13.3 6244 6459 106.700.001 111.200.000 gneg
1 p 13.2 6459 6660 111.200.001 115.500.000 gpos 50
1 p 13.1 6660 6861 115.500.001 117.200.000 gneg
1 p 12 6861 7048 117.200.001 120.400.000 gpos 50
1 p 11.2 7048 7119 120.400.001 121.700.000 gneg
1 p 11.1 7119 7335 121.700.001 123.400.000 acen
1 q 11 7335 7579 123.400.001 125.100.000 acen
1 q 12 7579 8483 125.100.001 143.200.000 gvar
1 q 21.1 8483 8756 143.200.001 147.500.000 gneg
1 q 21.2 8756 8957 147.500.001 150.600.000 gpos 50
1 q 21.3 8957 9244 150.600.001 155.100.000 gneg
1 q 22 9244 9459 155.100.001 156.600.000 gpos 50
1 q 23.1 9459 9832 156.600.001 159.100.000 gneg
1 q 23.2 9832 10048 159.100.001 160.500.000 gpos 50
1 q 23.3 10048 10349 160.500.001 165.500.000 gneg
1 q 24.1 10349 10507 165.500.001 167.200.000 gpos 50
1 q 24.2 10507 10679 167.200.001 170.900.000 gneg
1 q 24.3 10679 10894 170.900.001 173.000.000 gpos 75
1 q 25.1 10894 11009 173.000.001 176.100.000 gneg
1 q 25.2 11009 11196 176.100.001 180.300.000 gpos 50
1 q 25.3 11196 11598 180.300.001 185.800.000 gneg
1 q 31.1 11598 11827 185.800.001 190.800.000 gpos 100
1 q 31.2 11827 11942 190.800.001 193.800.000 gneg
1 q 31.3 11942 12172 193.800.001 198.700.000 gpos 100
1 q 32.1 12172 12617 198.700.001 207.100.000 gneg
1 q 32.2 12617 12803 207.100.001 211.300.000 gpos 25
1 q 32.3 12803 13033 211.300.001 214.400.000 gneg
1 q 41 13033 13320 214.400.001 223.900.000 gpos 100
1 q 42.11 13320 13406 223.900.001 224.400.000 gneg
1 q 42.12 13406 13607 224.400.001 226.800.000 gpos 25
1 q 42.13 13607 13966 226.800.001 230.500.000 gneg
1 q 42.2 13966 14153 230.500.001 234.600.000 gpos 50
1 q 42.3 14153 14397 234.600.001 236.400.000 gneg
1 q 43 14397 14756 236.400.001 243.500.000 gpos 75
1 q 44 14756 15100 243.500.001 248.956.422 gneg

Reference

  1. ^ "Human Genome Assembly GRCh38 - Genome Reference Consortium". National Center for Biotechnology Information (jezik: engleski). 24. 12. 2013. Pristupljeno 4. 3. 2017.
  2. ^ 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. 9. 2016. Pristupljeno 28. 5. 2017.
  3. ^ Tom Strachan; Andrew Read (2. 4. 2010). Human Molecular Genetics. Garland Science. str. 45. ISBN 978-1-136-84407-2.
  4. ^ 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.
  5. ^ http://vega.sanger.ac.uk/Homo_sapiens/mapview?chr=1 Chromosome size and number of genes derived from this database, retrieved 2012-03-11.
  6. ^ Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, et al. (maj 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.
  7. ^ OMIM, Online Mendelian Inheritance in ManAn. Internet katalog ljudskih gena i genetskih poremećaja. Ažurirano 9. marta 2021.
  8. ^ 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.
  9. ^ "Statistics & Downloads for chromosome 2". HUGO Gene Nomenclature Committee. 12. 5. 2017. Arhivirano s originala, 29. 6. 2017. Pristupljeno 19. 5. 2017.
  10. ^ "Chromosome 2: Chromosome summary - Homo sapiens". Ensembl Release 88. 29. 3. 2017. Pristupljeno 19. 5. 2017.
  11. ^ "Human chromosome 2: entries, gene names and cross-references to MIM". UniProt. 28. 2. 2018. Pristupljeno 16. 3. 2018.
  12. ^ "Search results - 2[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 19. 5. 2017. Pristupljeno 20. 5. 2017.
  13. ^ "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. 5. 2017. Pristupljeno 20. 5. 2017.
  14. ^ "Search results - 2[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene". NCBI. 19. 5. 2017. Pristupljeno 20. 5. 2017.
  15. ^ a b Gersen, Steven L.; Keagle, Martha B. (26. 3. 2013). The Principles of Clinical Cytogenetics (jezik: engleski). Springer Science & Business Media. str. 278. ISBN 9781441916884.
  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. S2CID 16666470.
  20. ^ "p": kratki; "q": dugi krak.
  21. ^ Za nomenklaturu pruganja, pogledajte članak lokus.
  22. ^ 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.
  23. ^ gpos: Pozitivbno obojene regije G-pruganja, općenito AT-bogate i genima siromašne; gneg: Regije sa negativnim obojenjem G-preuga, općenito CG-bogate i genima bogate ; acen Centromere. var: Varijabilna regija; stalk: Drška.

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