Kromosom 1
| Kromosom 1 | |
|---|---|
 Pasangan kromosom 1 selepas penjaluran G. | |
 Pasangan kromosome 1 dalam kariogram manusia lelaki. | |
| Ciri-ciri | |
| Panjang (bp) | 248,387,328 bp (CHM13) |
| Bilangan gen | 1,961 (CCDS)[1] |
| Jenis | Autosom |
| Kedudukan sentromer | Metasentrik[2] (123.4 Mbp[3]) |
| Senarai gen lengkap | |
| CCDS | Senarai gen |
| HGNC | Senarai gen |
| UniProt | Senarai gen |
| NCBI | Gene list |
| Pemidang peta luaran | |
| Ensembl | Kromosom 1 |
| Entrez | Kromosom 1 |
| NCBI | Kromosom 1 |
| UCSC | Kromosom 1 |
| Jujukan DNA penuh | |
| RefSeq | NC_000001 (FASTA) |
| GenBank | CM000663 (FASTA) |
Kromosom 1 ialah sebutan untuk kromosom manusia terbesar. Manusia mempunyai dua salinan kromosom 1 seperti semua autosom, yakni kromosom bukan jantina. Kromosom 1 merangkumi kira-kira 249 juta pasangan bes nukleotida, unit asas maklumat DNA.[4] Ia mewakili kira-kira 8% daripada jumlah DNA dalam sel manusia.[5]
Ia merupakan kromosom terakhir yang berjaya dijujuki lengkap, dengan tempoh penjujukan dua dekad selepas permulaan Projek Genom Manusia.
Gen
Bilangan gen
Berikut adalah beberapa anggaran kiraan gen kromosom manusia 1. Oleh kerana penyelidik menggunakan pendekatan yang berbeza bagi anotasi genom, ramalan mereka tentang bilangan gen pada setiap kromosom berbeza-beza. Dalam pelbagai projek, projek jujukan pengekodan konsensus kolaboratif (CCDS) mengambil strategi yang sangat konservatif. Dengan itu, ramalan nombor gen CCDS mewakili had bawah jumlah bilangan gen pengekodan protein manusia.[6]
| Dianggarkan oleh | Gen pengekod protein | Gen RNA bukan pengekod | Pseudogen | Sumber | Tarikh keluaran |
|---|---|---|---|---|---|
| CCDS | 1,961 | — | — | [1] | 08-09-2016 |
| HGNC | 1,993 | 707 | 1,113 | [7] | 2017-05-12 |
| Ensembl | 2,044 | 1,924 | 1,223 | [8] | 29-03-2017 |
| UniProt | 2,064 | — | — | [9] | 28-02-2018 |
| NCBI | 2,093 | 1,790 | 1,426 | [10] [11] [12] | 19-05-2017 |
Senarai gen
Berikut ialah senarai separa gen pada kromosom 1 manusia. Untuk senarai lengkap, lihat pautan dalam kotak info di sebelah kanan.
- C1orf112: pengekodan protein Kromosom 1 bingkai bacaan terbuka 112
- C1orf127: pengekodan protein Kromosom 1 bingkai bacaan terbuka 127
- C1orf27: pengekodan protein Kromosom 1 bingkai bacaan terbuka 27
- C1orf38: pengekodan protein Kromosom 1 bingkai bacaan terbuka 38
- CCDC181: pengekodan protein berkandungan domain gegelung bergelung 181
- DENN1B: dihipotesiskan berkaitan dengan asma
- FHAD1: pengekodan protein domain berkaitan forkhead 1
- LOC100132287: protein tidak berciri
- LRRIQ3: pengekodan protein ulangan kaya leusina dan motif IQ 3
- Ahli keluarga Shisa 4: pengekodan protein ahli keluarga Shisa 4
- TINAGL1: pengekodan protein nefritis tubulointerstitial seperti antigen
Penyakit dan gangguan
Terdapat 890 penyakit yang diketahui berkaitan dengan kromosom ini.[perlu rujukan] Beberapa penyakit ini termasuk kehilangan pendengaran, penyakit Alzheimer, glaukoma dan kanser payudara. Penyusunan semula dan mutasi kromosom 1 adalah lazim dalam kanser dan banyak penyakit lain. Corak variasi jujukan mendedahkan isyarat pemilihan baru-baru ini dalam gen tertentu yang mungkin menyumbang kepada kecergasan manusia, dan juga di kawasan yang tiada fungsi yang jelas.
Monosomi lengkap (hanya mempunyai satu salinan keseluruhan kromosom) selalu membawa maut sebelum kelahiran.[13] Trisomi lengkap (mempunyai tiga salinan keseluruhan kromosom) boleh membawa maut dalam beberapa hari selepas persenyawaan.[13] Sesetengah pemadaman dan duplikasi separa separa menghasilkan kecacatan kelahiran.
Jalur sitogenetik
G-banding ideograms of human chromosome 1
Ideogram penjaluran G kromosom 1 manusia dalam resolusi 850 bphs. Panjang jalur adalah berkadaran dengan panjang pasangan bes. Jenis ideogram ini biasanya digunakan dalam carian genom (cth. Ensembl, UCSC Genome Browser).
Corak penjaluran G kromosom 1 manusia dalam tiga resolusi berbeza (400,[14] 550[15] dan 850[3]). Panjang jalur dalam rajah adalah berdasarkan ideogram ISCN (2013).[16] Jenis ideogram ini mewakili panjang jalur relatif sebenar yang diperhatikan di bawah mikroskop ketika tempoh berbeza dalam mitosis.[17]
| Kr. | Lengan[18] | Jalur[19] | Permulaan ISCN[20] | Pengakhiran ISCN[20] | Permulaan pasangan bes | Pengakhiran pasangan bes | Stain[21] | Ketumpatan |
|---|---|---|---|---|---|---|---|---|
| 1 | p | 36.33 | 0 | 100 | 7000100000000000000♠1 | 7006230000000000000♠2,300,000 | gneg | |
| 1 | p | 36.32 | 100 | 244 | 7006230000100000000♠2,300,001 | 7006530000000000000♠5,300,000 | gpos | 25 |
| 1 | p | 36.31 | 244 | 344 | 7006530000100000000♠5,300,001 | 7006710000000000000♠7,100,000 | gneg | |
| 1 | p | 36.23 | 344 | 459 | 7006710000100000000♠7,100,001 | 7006910000000000000♠9,100,000 | gpos | 25 |
| 1 | p | 36.22 | 459 | 660 | 7006910000100000000♠9,100,001 | 7007125000000000000♠12,500,000 | gneg | |
| 1 | p | 36.21 | 660 | 861 | 7007125000010000000♠12,500,001 | 7007159000000000000♠15,900,000 | gpos | 50 |
| 1 | p | 36.13 | 861 | 1206 | 7007159000010000000♠15,900,001 | 7007201000000000000♠20,100,000 | gneg | |
| 1 | p | 36.12 | 1206 | 1321 | 7007201000010000000♠20,100,001 | 7007236000000000000♠23,600,000 | gpos | 25 |
| 1 | p | 36.11 | 1321 | 1521 | 7007236000010000000♠23,600,001 | 7007276000000000000♠27,600,000 | gneg | |
| 1 | p | 35.3 | 1521 | 1651 | 7007276000010000000♠27,600,001 | 7007299000000000000♠29,900,000 | gpos | 25 |
| 1 | p | 35.2 | 1651 | 1780 | 7007299000010000000♠29,900,001 | 7007323000000000000♠32,300,000 | gneg | |
| 1 | p | 35.1 | 1780 | 1895 | 7007323000010000000♠32,300,001 | 7007343000000000000♠34,300,000 | gpos | 25 |
| 1 | p | 34.3 | 1895 | 2210 | 7007343000010000000♠34,300,001 | 7007396000000000000♠39,600,000 | gneg | |
| 1 | p | 34.2 | 2210 | 2411 | 7007396000010000000♠39,600,001 | 7007437000000000000♠43,700,000 | gpos | 25 |
| 1 | p | 34.1 | 2411 | 2770 | 7007437000010000000♠43,700,001 | 7007463000000000000♠46,300,000 | gneg | |
| 1 | p | 33 | 2770 | 2986 | 7007463000010000000♠46,300,001 | 7007502000000000000♠50,200,000 | gpos | 75 |
| 1 | p | 32.3 | 2986 | 3273 | 7007502000010000000♠50,200,001 | 7007556000000000000♠55,600,000 | gneg | |
| 1 | p | 32.2 | 3273 | 3416 | 7007556000010000000♠55,600,001 | 7007585000000000000♠58,500,000 | gpos | 50 |
| 1 | p | 32.1 | 3416 | 3732 | 7007585000010000000♠58,500,001 | 7007608000000000000♠60,800,000 | gneg | |
| 1 | p | 31.3 | 3732 | 3976 | 7007608000010000000♠60,800,001 | 7007685000000000000♠68,500,000 | gpos | 50 |
| 1 | p | 31.2 | 3976 | 4206 | 7007685000010000000♠68,500,001 | 7007693000000000000♠69,300,000 | gneg | |
| 1 | p | 31.1 | 4206 | 4852 | 7007693000010000000♠69,300,001 | 7007844000000000000♠84,400,000 | gpos | 100 |
| 1 | p | 22.3 | 4852 | 5210 | 7007844000010000000♠84,400,001 | 7007879000000000000♠87,900,000 | gneg | |
| 1 | p | 22.2 | 5210 | 5440 | 7007879000010000000♠87,900,001 | 7007915000000000000♠91,500,000 | gpos | 75 |
| 1 | p | 22.1 | 5440 | 5741 | 7007915000010000000♠91,500,001 | 7007943000000000000♠94,300,000 | gneg | |
| 1 | p | 21.3 | 5741 | 5957 | 7007943000010000000♠94,300,001 | 7007993000000000000♠99,300,000 | gpos | 75 |
| 1 | p | 21.2 | 5957 | 6029 | 7007993000010000000♠99,300,001 | 7008101800000000000♠101,800,000 | gneg | |
| 1 | p | 21.1 | 6029 | 6244 | 7008101800001000000♠101,800,001 | 7008106700000000000♠106,700,000 | gpos | 100 |
| 1 | p | 13.3 | 6244 | 6459 | 7008106700001000000♠106,700,001 | 7008111200000000000♠111,200,000 | gneg | |
| 1 | p | 13.2 | 6459 | 6660 | 7008111200001000000♠111,200,001 | 7008115500000000000♠115,500,000 | gpos | 50 |
| 1 | p | 13.1 | 6660 | 6861 | 7008115500001000000♠115,500,001 | 7008117200000000000♠117,200,000 | gneg | |
| 1 | p | 12 | 6861 | 7048 | 7008117200001000000♠117,200,001 | 7008120400000000000♠120,400,000 | gpos | 50 |
| 1 | p | 11.2 | 7048 | 7119 | 7008120400001000000♠120,400,001 | 7008121700000000000♠121,700,000 | gneg | |
| 1 | p | 11.1 | 7119 | 7335 | 7008121700001000000♠121,700,001 | 7008123400000000000♠123,400,000 | acen | |
| 1 | q | 11 | 7335 | 7579 | 7008123400001000000♠123,400,001 | 7008125100000000000♠125,100,000 | acen | |
| 1 | q | 12 | 7579 | 8483 | 7008125100001000000♠125,100,001 | 7008143200000000000♠143,200,000 | gvar | |
| 1 | q | 21.1 | 8483 | 8756 | 7008143200001000000♠143,200,001 | 7008147500000000000♠147,500,000 | gneg | |
| 1 | q | 21.2 | 8756 | 8957 | 7008147500001000000♠147,500,001 | 7008150600000000000♠150,600,000 | gpos | 50 |
| 1 | q | 21.3 | 8957 | 9244 | 7008150600001000000♠150,600,001 | 7008155100000000000♠155,100,000 | gneg | |
| 1 | q | 22 | 9244 | 9459 | 7008155100001000000♠155,100,001 | 7008156600000000000♠156,600,000 | gpos | 50 |
| 1 | q | 23.1 | 9459 | 9832 | 7008156600001000000♠156,600,001 | 7008159100000000000♠159,100,000 | gneg | |
| 1 | q | 23.2 | 9832 | 10048 | 7008159100001000000♠159,100,001 | 7008160500000000000♠160,500,000 | gpos | 50 |
| 1 | q | 23.3 | 10048 | 10349 | 7008160500001000000♠160,500,001 | 7008165500000000000♠165,500,000 | gneg | |
| 1 | q | 24.1 | 10349 | 10507 | 7008165500001000000♠165,500,001 | 7008167200000000000♠167,200,000 | gpos | 50 |
| 1 | q | 24.2 | 10507 | 10679 | 7008167200001000000♠167,200,001 | 7008170900000000000♠170,900,000 | gneg | |
| 1 | q | 24.3 | 10679 | 10894 | 7008170900001000000♠170,900,001 | 7008173000000000000♠173,000,000 | gpos | 75 |
| 1 | q | 25.1 | 10894 | 11009 | 7008173000001000000♠173,000,001 | 7008176100000000000♠176,100,000 | gneg | |
| 1 | q | 25.2 | 11009 | 11196 | 7008176100001000000♠176,100,001 | 7008180300000000000♠180,300,000 | gpos | 50 |
| 1 | q | 25.3 | 11196 | 11598 | 7008180300001000000♠180,300,001 | 7008185800000000000♠185,800,000 | gneg | |
| 1 | q | 31.1 | 11598 | 11827 | 7008185800001000000♠185,800,001 | 7008190800000000000♠190,800,000 | gpos | 100 |
| 1 | q | 31.2 | 11827 | 11942 | 7008190800001000000♠190,800,001 | 7008193800000000000♠193,800,000 | gneg | |
| 1 | q | 31.3 | 11942 | 12172 | 7008193800001000000♠193,800,001 | 7008198700000000000♠198,700,000 | gpos | 100 |
| 1 | q | 32.1 | 12172 | 12617 | 7008198700001000000♠198,700,001 | 7008207100000000000♠207,100,000 | gneg | |
| 1 | q | 32.2 | 12617 | 12803 | 7008207100001000000♠207,100,001 | 7008211300000000000♠211,300,000 | gpos | 25 |
| 1 | q | 32.3 | 12803 | 13033 | 7008211300001000000♠211,300,001 | 7008214400000000000♠214,400,000 | gneg | |
| 1 | q | 41 | 13033 | 13320 | 7008214400001000000♠214,400,001 | 7008223900000000000♠223,900,000 | gpos | 100 |
| 1 | q | 42.11 | 13320 | 13406 | 7008223900001000000♠223,900,001 | 7008224400000000000♠224,400,000 | gneg | |
| 1 | q | 42.12 | 13406 | 13607 | 7008224400001000000♠224,400,001 | 7008226800000000000♠226,800,000 | gpos | 25 |
| 1 | q | 42.13 | 13607 | 13966 | 7008226800001000000♠226,800,001 | 7008230500000000000♠230,500,000 | gneg | |
| 1 | q | 42.2 | 13966 | 14153 | 7008230500001000000♠230,500,001 | 7008234600000000000♠234,600,000 | gpos | 50 |
| 1 | q | 42.3 | 14153 | 14397 | 7008234600001000000♠234,600,001 | 7008236400000000000♠236,400,000 | gneg | |
| 1 | q | 43 | 14397 | 14756 | 7008236400001000000♠236,400,001 | 7008243500000000000♠243,500,000 | gpos | 75 |
| 1 | q | 44 | 14756 | 15100 | 7008243500001000000♠243,500,001 | 7008248956422000000♠248,956,422 | gneg |
Rujukan
- ^ a b "Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene". NCBI. 2016-09-08. Dicapai pada 2017-05-28.
- ^ Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics. Garland Science. m/s. 45. ISBN 978-1-136-84407-2.
- ^ 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.
- ^ http://vega.sanger.ac.uk/Homo_sapiens/mapview?chr=1 Chromosome size and number of genes derived from this database, retrieved 2012-03-11.
- ^ "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. May 2006. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414. Unknown parameter
|displayauthors=ignored (bantuan) - ^ 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.
- ^ "Statistics & Downloads for chromosome 1". HUGO Gene Nomenclature Committee. 2017-05-12. Dicapai pada 2017-05-19.
- ^ "Chromosome 1: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Dicapai pada 2017-05-19.
- ^ "Human chromosome 1: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Dicapai pada 2018-03-16.
- ^ "Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Dicapai pada 2017-05-20.
- ^ "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. Dicapai pada 2017-05-20.
- ^ "Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Dicapai pada 2017-05-20.
- ^ a b Gersen, Steven L.; Keagle, Martha B. (2013-03-26). The Principles of Clinical Cytogenetics (dalam bahasa Inggeris). Springer Science & Business Media. m/s. 278. ISBN 9781441916884.
- ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26.
- ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26.
- ^ 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.
- ^ 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.
- ^ "p": Lengan pendek; "q": Lengan panjang.
- ^ Bagi tatanama penjaluran sitogenetik, lihat rencana lokus.
- ^ a b Nilai ini adalah berdasarkan panjang jalur/ideogram daripada buku ISCN, An International System for Human Cytogenetic Nomenclature (2013). Unit arbitrari.
- ^ gpos: Kawasan positif stain penjaluran G, biasanya kaya AT dan sedikit gen; gneg: Kawasan negatif stain penjaluran G, biasanya kaya GC dan kaya gen; acen Sentromer. var: Kawasan bervariasi; stalk: Tangkai.
