1番染色体 (ヒト)
表示
(第1染色体から転送)
1番染色体 (ヒト) | |
---|---|
ギムザ染色後のヒト1番染色体のペア。 一本は母から、一本は父から。 | |
ヒト男性の核型における1番染色体のペア | |
概要 | |
塩基長 | 2億4895万6422[1] 塩基対 |
遺伝子数 | 2,968 |
タイプ | 常染色体 |
セントロメアの位置 |
メタセントリック[2] (123.4 Mbp[3]) |
全ての遺伝子のリスト | |
CCDS | Gene list |
HGNC | Gene list |
UniProt | Gene list |
NCBI | Gene list |
マップ・ビューア | |
Ensembl | Chromosome 1 |
Entrez | Chromosome 1 |
NCBI | Chromosome 1 |
UCSC | Chromosome 1 |
全DNA配列 | |
RefSeq | NC_000001 (FASTA) |
GenBank | CM000663 (FASTA) |
ヒト1番染色体(ヒトいちばんせんしょくたい)は、ヒトゲノム中に23対ある染色体の内の一対。ヒト染色体の中で一番長く、約2億4895万個[1](≈249Mbp)の塩基対からなる。父と母から一本ずつ受け継ぎ、合計で二本もつ。ヒトDNA配列全体の約8%を構成する。
遺伝子
[編集]以下、ヒト1番染色体にある遺伝子のうちのいくらかを列挙する。
遺伝子数
[編集]ヒト1番染色体に含まれる遺伝子の数は、遺伝子数の定義の違い、および、数え上げる際に使われる方法の違いにより、ソースごとに異なった数値となっている。
短腕
[編集]短腕(p)上の遺伝子(の一部)
- ACADM: acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
- AHCTF1: encoding protein ELYS
- AMPD2: encoding enzyme AMP deaminase 2
- AZIN2: encoding enzyme Antizyme inhibitor 2(AzI2)also known as arginine decarboxylase(ADC)
- C1orf103: encoding protein Ligand-dependent nuclear receptor-interacting factor 1(LRIF1)
- COL11A1: collagen, type XI, alpha 1
- CPT2: carnitine palmitoyltransferase II[4]
- DBT: dihydrolipoamide branched chain transacylase E2
- DIRAS3: DIRAS family, GTP-binding RAS-like 3
- ESPN: espin(autosomal recessive deafness 36)
- GALE: UDP-galactose-4-epimerase
- GJB3: gap junction protein, beta 3, 31kDa(connexin 31)
- HMGCL: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase(hydroxymethylglutaricaciduria)
- KCNQ4: potassium voltage-gated channel, KQT-like subfamily, member 4
- KIF1B: kinesin family member 1B
- MFN2: mitofusin 2
- MTHFR: 5,10-methylenetetrahydrofolate reductase(NADPH)
- MUTYH: mutY homolog(E. coli)
- NGF: Nerve Growth Factor
- PARK7: Parkinson disease(autosomal recessive, early onset)7
- PINK1: PTEN induced putative kinase 1
- PLOD1: procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
- TACSTD2: tumour-associated calcium signal transducer 2
- TMEM48: encoding protein nucleoporin NDC1
- TSHB: thyroid stimulating hormone, beta
- UROD: uroporphyrinogen decarboxylase(the gene for porphyria cutanea tarda)
長腕
[編集]長腕(q)上の遺伝子(の一部)
- ASPM: a brain size determinant
- ARID4B: encoding protein AT-rich interactive domain-containing protein 4B
- CRP: C-reactive protein
- C1orf21: encoding protein Uncharacterized protein C1orf21
- C1orf49: encoding protein Uncharacterized protein C1orf49
- F5: coagulation factor V (proaccelerin, labile factor)
- FMO3: flavin containing monooxygenase 3
- GBA: glucosidase, beta; acid (includes glucosylceramidase) (gene for Gaucher disease)
- GLC1A: gene for glaucoma
- HFE2: hemochromatosis type 2 (juvenile)
- HPC1: gene for prostate cancer
- IRF6: gene for connective tissue formation
- LMNA: lamin A/C
- MPZ: myelin protein zero (Charcot–Marie–Tooth neuropathy 1B)
- MTR: 5-methyltetrahydrofolate-homocysteine methyltransferase
- PPOX: protoporphyrinogen oxidase
- PSEN2: presenilin 2 (Alzheimer disease 4)
- SDHB: succinate dehydrogenase complex subunit B
- TNNT2: cardiac troponin T2
- USH2A: Usher syndrome 2A (autosomal recessive, mild)
疾患と疾病
[編集]以下、ヒト1番染色体が関わる疾患、疾病のうちのいくらかを列挙する。
- 1q21.1 deletion syndrome
- 1q21.1 duplication syndrome
- アルツハイマー病
- Alzheimer disease, type 4
- 乳癌
- Brooke Greenberg Disease (Syndrome X)
- Carnitine palmitoyltransferase II deficiency
- シャルコー・マリー・トゥース病, types 1 and 2
- collagenopathy, types II and XI
- congenital hypothyroidism
- エーラス・ダンロス症候群
- Ehlers-Danlos syndrome, kyphoscoliosis type
- Factor V Leiden thrombophilia
- 家族性大腸腺腫症
- ガラクトース血症
- ゴーシェ病
- Gaucher disease type 1
- Gaucher disease type 2
- Gaucher disease type 3
- Gaucher-like disease
- Gelatinous drop-like corneal dystrophy
- 緑内障
- 難聴, autosomal recessive deafness 36
- Hemochromatosis
- Hemochromatosis, type 2
- Hepatoerythropoietic porphyria
- Homocystinuria
- Hutchinson Gilford progeria syndrome
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- Hypertrophic cardiomyopathy, autosomal dominant mutations of TNNT2; hypertrophy usually mild; restrictive phenotype may be present; may carry high risk of sudden cardiac death
- maple syrup urine disease
- medium-chain acyl-coenzyme A dehydrogenase deficiency
- Microcephaly
- Muckle-Wells Syndrome
- Nonsyndromic deafness
- Nonsyndromic deafness, autosomal dominant
- Nonsyndromic deafness, autosomal recessive
- Oligodendroglioma
- パーキンソン病
- 褐色細胞腫
- ポルフィリン症
- porphyria cutanea tarda
- popliteal pterygium syndrome
- 前立腺癌
- Stickler syndrome
- Stickler syndrome, COL11A1
- TAR syndrome
- トリメチルアミン尿症
- アッシャー症候群
- Usher syndrome type II
- Van der Woude syndrome
- Variegate porphyria
染色体バンド
[編集]ヒト1番染色体のイデオグラム
染色体 | 腕[10] | バンド[11] | ISCN 開始[12] |
ISCN 停止[12] |
塩基対 開始 |
塩基対 停止 |
染色[13] | 濃度 |
---|---|---|---|---|---|---|---|---|
1 | p | 36.33 | 0 | 100 | 1 | 2,300,000 | G陰性 | |
1 | p | 36.32 | 100 | 244 | 2,300,001 | 5,300,000 | G陽性 | 25 |
1 | p | 36.31 | 244 | 344 | 5,300,001 | 7,100,000 | G陰性 | |
1 | p | 36.23 | 344 | 459 | 7,100,001 | 9,100,000 | G陽性 | 25 |
1 | p | 36.22 | 459 | 660 | 9,100,001 | 12,500,000 | G陰性 | |
1 | p | 36.21 | 660 | 861 | 12,500,001 | 15,900,000 | G陽性 | 50 |
1 | p | 36.13 | 861 | 1206 | 15,900,001 | 20,100,000 | G陰性 | |
1 | p | 36.12 | 1206 | 1321 | 20,100,001 | 23,600,000 | G陽性 | 25 |
1 | p | 36.11 | 1321 | 1521 | 23,600,001 | 27,600,000 | G陰性 | |
1 | p | 35.3 | 1521 | 1651 | 27,600,001 | 29,900,000 | G陽性 | 25 |
1 | p | 35.2 | 1651 | 1780 | 29,900,001 | 32,300,000 | G陰性 | |
1 | p | 35.1 | 1780 | 1895 | 32,300,001 | 34,300,000 | G陽性 | 25 |
1 | p | 34.3 | 1895 | 2210 | 34,300,001 | 39,600,000 | G陰性 | |
1 | p | 34.2 | 2210 | 2411 | 39,600,001 | 43,700,000 | G陽性 | 25 |
1 | p | 34.1 | 2411 | 2770 | 43,700,001 | 46,300,000 | G陰性 | |
1 | p | 33 | 2770 | 2986 | 46,300,001 | 50,200,000 | G陽性 | 75 |
1 | p | 32.3 | 2986 | 3273 | 50,200,001 | 55,600,000 | G陰性 | |
1 | p | 32.2 | 3273 | 3416 | 55,600,001 | 58,500,000 | G陽性 | 50 |
1 | p | 32.1 | 3416 | 3732 | 58,500,001 | 60,800,000 | G陰性 | |
1 | p | 31.3 | 3732 | 3976 | 60,800,001 | 68,500,000 | G陽性 | 50 |
1 | p | 31.2 | 3976 | 4206 | 68,500,001 | 69,300,000 | G陰性 | |
1 | p | 31.1 | 4206 | 4852 | 69,300,001 | 84,400,000 | G陽性 | 100 |
1 | p | 22.3 | 4852 | 5210 | 84,400,001 | 87,900,000 | G陰性 | |
1 | p | 22.2 | 5210 | 5440 | 87,900,001 | 91,500,000 | G陽性 | 75 |
1 | p | 22.1 | 5440 | 5741 | 91,500,001 | 94,300,000 | G陰性 | |
1 | p | 21.3 | 5741 | 5957 | 94,300,001 | 99,300,000 | G陽性 | 75 |
1 | p | 21.2 | 5957 | 6029 | 99,300,001 | 101,800,000 | G陰性 | |
1 | p | 21.1 | 6029 | 6244 | 101,800,001 | 106,700,000 | G陽性 | 100 |
1 | p | 13.3 | 6244 | 6459 | 106,700,001 | 111,200,000 | G陰性 | |
1 | p | 13.2 | 6459 | 6660 | 111,200,001 | 115,500,000 | G陽性 | 50 |
1 | p | 13.1 | 6660 | 6861 | 115,500,001 | 117,200,000 | G陰性 | |
1 | p | 12 | 6861 | 7048 | 117,200,001 | 120,400,000 | G陽性 | 50 |
1 | p | 11.2 | 7048 | 7119 | 120,400,001 | 121,700,000 | G陰性 | |
1 | p | 11.1 | 7119 | 7335 | 121,700,001 | 123,400,000 | セントロメア | |
1 | q | 11 | 7335 | 7579 | 123,400,001 | 125,100,000 | セントロメア | |
1 | q | 12 | 7579 | 8483 | 125,100,001 | 143,200,000 | 変異領域 | |
1 | q | 21.1 | 8483 | 8756 | 143,200,001 | 147,500,000 | G陰性 | |
1 | q | 21.2 | 8756 | 8957 | 147,500,001 | 150,600,000 | G陽性 | 50 |
1 | q | 21.3 | 8957 | 9244 | 150,600,001 | 155,100,000 | G陰性 | |
1 | q | 22 | 9244 | 9459 | 155,100,001 | 156,600,000 | G陽性 | 50 |
1 | q | 23.1 | 9459 | 9832 | 156,600,001 | 159,100,000 | G陰性 | |
1 | q | 23.2 | 9832 | 10048 | 159,100,001 | 160,500,000 | G陽性 | 50 |
1 | q | 23.3 | 10048 | 10349 | 160,500,001 | 165,500,000 | G陰性 | |
1 | q | 24.1 | 10349 | 10507 | 165,500,001 | 167,200,000 | G陽性 | 50 |
1 | q | 24.2 | 10507 | 10679 | 167,200,001 | 170,900,000 | G陰性 | |
1 | q | 24.3 | 10679 | 10894 | 170,900,001 | 173,000,000 | G陽性 | 75 |
1 | q | 25.1 | 10894 | 11009 | 173,000,001 | 176,100,000 | G陰性 | |
1 | q | 25.2 | 11009 | 11196 | 176,100,001 | 180,300,000 | G陽性 | 50 |
1 | q | 25.3 | 11196 | 11598 | 180,300,001 | 185,800,000 | G陰性 | |
1 | q | 31.1 | 11598 | 11827 | 185,800,001 | 190,800,000 | G陽性 | 100 |
1 | q | 31.2 | 11827 | 11942 | 190,800,001 | 193,800,000 | G陰性 | |
1 | q | 31.3 | 11942 | 12172 | 193,800,001 | 198,700,000 | G陽性 | 100 |
1 | q | 32.1 | 12172 | 12617 | 198,700,001 | 207,100,000 | G陰性 | |
1 | q | 32.2 | 12617 | 12803 | 207,100,001 | 211,300,000 | G陽性 | 25 |
1 | q | 32.3 | 12803 | 13033 | 211,300,001 | 214,400,000 | G陰性 | |
1 | q | 41 | 13033 | 13320 | 214,400,001 | 223,900,000 | G陽性 | 100 |
1 | q | 42.11 | 13320 | 13406 | 223,900,001 | 224,400,000 | G陰性 | |
1 | q | 42.12 | 13406 | 13607 | 224,400,001 | 226,800,000 | G陽性 | 25 |
1 | q | 42.13 | 13607 | 13966 | 226,800,001 | 230,500,000 | G陰性 | |
1 | q | 42.2 | 13966 | 14153 | 230,500,001 | 234,600,000 | G陽性 | 50 |
1 | q | 42.3 | 14153 | 14397 | 234,600,001 | 236,400,000 | G陰性 | |
1 | q | 43 | 14397 | 14756 | 236,400,001 | 243,500,000 | G陽性 | 75 |
1 | q | 44 | 14756 | 15100 | 243,500,001 | 248,956,422 | G陰性 |
参考文献
[編集]- ^ a b “Human Genome Assembly GRCh38.p10 - Genome Reference Consortium” (英語). National Center for Biotechnology Information (2017年1月6日). 2017年3月4日閲覧。
- ^ Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics. Garland Science. p. 45. ISBN 978-1-136-84407-2
- ^ a b Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
- ^ CPT-II:カルニチンパルミトイルトランスフェラーゼII。カルニチンを参照
- ^ 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 .
- ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
- ^ "p": 短腕; "q": 長腕.
- ^ For cytogenetic banding nomenclature, see article locus.
- ^ a b これらの値(ISCN開始/停止)は、標準化団体から出版されている書籍「An International System for Human Cytogenetic Nomenclature (2013)」中のバンド図に基づく。任意単位。
- ^ gpos: G陽性バンド。G分染法により濃く染まる領域。一般にAT対が多く、遺伝子密度は低い; gneg: G陰性バンド。G分染法であまり染まらない領域。一般にCG対が多く、遺伝子密度は高い; acen セントロメア. var: 変異領域; stalk: ストーク[要曖昧さ回避].
外部リンク
[編集]- ヒトゲノムマップ・1番染色体 - 京都大学大学院・生命科学研究科