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1번 염색체

위키백과, 우리 모두의 백과사전.

1번 염색체
김자 염색을 한 인간의 1번 염색체의 모습. X자 모양의 염색체가 보인다.
김자 염색을 한 인간의 1번 염색체.
인간 남성의 염색체 핵형이 보인다. 제일 왼쪽 상단에 1번 염색체 1쌍이 보인다.
인간 남성의 핵형에 표시된 1번 염색체 1쌍의 모습.
특성
길이 (bp)248,387,328 bp
(CHM13)
유전자 갯수1,961 (CCDS)
종류상염색체
동원체 위치중부동원체형[1]
(123.4 Mbp[2])
전체 유전자 목록
CCDS유전자 목록
HGNC유전자 목록
UniProt유전자 목록
NCBI유전자 목록
유전자 지도
Ensembl1번 염색체 지도
Entrez1번 염색체 지도
NCBI1번 염색체 지도
UCSC1번 염색체 지도
전체 DNA 서열
RefSeqNC_000001 (FASTA)
GenBankCM000663 (FASTA)

1번 염색체는 인간에서 가장 큰 염색체이다. 인간은 이질염색체가 아닌 모든 상염색체와 마찬가지로 1번 염색체에 두 개의 사본을 가지고 있다. 1번 염색체는 DNA 정보의 기본 단위인 약 2억 4,900만 뉴클레오타이드 염기쌍에 걸쳐 있다.[3] 그것은 인간 세포에 있는 전체 DNA의 약 8%를 차지한다.[4]

상염색체, 성염색체를 포함한 인간의 염색체 중에서 길이가 제일 길다. 1번 염색체의 단완의 일부가 결실되면 해당 부위의 유전자의 일부가 없어지는 유전병이 발생하는데 이를 1번 단완 염색체 결실 증후군이라고 한다. 해당 병에 걸리면 안면에 기형이 발생하며 발달장애, 운동장애 등을 동반하는 경우가 많다. 인종, 성별과 무관하게 1/5000에서 1/10000 정도의 확률로 발생한다.[5]

인간 유전체 프로젝트가 시작된 지 20년 후에 시퀀싱된 마지막 완성된 염색체였다.

유전자

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유전자 수

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다음은 인간 1번 염색체의 유전자 수 추정치 중 일부이다. 연구자들은 게놈 주석에 다른 접근 방식을 사용하기 때문에 각 염색체의 유전자 수에 대한 예측은 다양하다 (기술적인 세부 사항은 유전자 예측 참조). 다양한 프로젝트 중 CCDS (Collaborative Consensus coding sequence project)는 매우 보수적인 전략을 취한다. 따라서 CCDS의 유전자 수 예측은 인간 단백질 암호화 유전자의 총 수에 대한 하한을 나타낸다.[6]

분석 단백질 암호화 유전자 비암호화 RNA 유전자 슈도진 소스 출시일
CCDS 1,961 — — [7] 2016-09-08
HGNC 1,993 707 1,113 [8] 2017-05-12
Ensembl 2,044 1,924 1,223 [9] 2017-03-29
UniProt 2,064 — — [10] 2018-02-28
NCBI 2,093 1,790 1,426 [11][12][13] 2017-05-19

유전자 목록

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다음은 인간 1번 염색체에 있는 유전자의 일부 목록이다. 전체 목록은 오른쪽 정보 상자의 링크를 참조하라.

  • C1orf112 : 암호화 단백질 염색체 1 오픈 리딩 프레임 112
  • C1orf127 : 암호화 단백질 염색체 1 오픈 리딩 프레임 127
  • C1orf27 : 암호화 단백질 염색체 1 오픈 리딩 프레임 27
  • C1orf38 : 암호화 단백질 염색체 1 오픈 리딩 프레임 38
  • CCDC181 : 암호화 단백질 코일된 코일 도메인 함유 단백질 181
  • DENN1B : 천식과 관련이 있다고 가정됨
  • FHAD1 : 단백질 1을 포함하는 단백질 포크헤드 관련 도메인 암호화
  • LOC100132287 : 확실하지 않은 단백질
  • LRRIQ3 : 암호화 단백질 류신이 풍부한 반복 및 3을 포함하는 IQ 모티브
  • Shisa family member 4 : 암호화 단백질 시사 패밀리 구성원 4
  • TINAGL1 : 항원 유사 세뇨관간질성 신염을 암호화하는 단백질

p-arm

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인간 1번 염색체의 p-arm (short arm)에 위치한 유전자의 일부 목록이다.

  • AADACL3: Arylacetamide deacetylase-like 3
  • AADACL4: Arylacetamide deacetylase-like 4
  • ACADM: acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
  • ACTG1P6: encoding protein Actin, gamma 1 pseudogene 6
  • ACTL8: Actin-like 8
  • ADGRL2 (1p31.1): adhesion G protein-coupled receptor L2
  • ADPRHL2: Poly(ADP-ribose) glycohydrolase ARH3
  • AMPD2: encoding enzyme AMP deaminase 2
  • ARID1A (1p36)
  • ATXN7L2: Ataxin 7-like 2
  • AZIN2: encoding enzyme Antizyme inhibitor 2 (AzI2) also known as arginine decarboxylase (ADC)
  • BCAS2: Breast carcinoma amplified sequence 2
  • BCL10 (1p22)
  • BCL2L15 (1p13)
  • LRIF1: encoding protein Ligand-dependent nuclear receptor-interacting factor 1
  • C1orf109: chromosome 1 open reading frame 109
  • CZIB: chromosome 1 open reading frame 123
  • CACHD1 encoding protein Cache domain containing 1
  • CAMTA1 (1p36)
  • CASP9 (1p36)
  • CASZ1 (1p36): Castor zinc finger 1
  • CSDE1: Cold shock domain containing E1
  • CHD5 (1p36)
  • CLIC4 (1p36)
  • CLSPN (1p34)
  • CMPK: UMP-CMP kinase
  • COL16A1 (1p35)
  • COL11A1: collagen, type XI, alpha 1
  • CPT2: carnitine palmitoyltransferase II
  • CRYZ: Crystallin zeta
  • CYP4B1 (1p33)
  • CYR61 (1p22)
  • DBT: dihydrolipoamide branched chain transacylase E2
  • DCLRE1B: DNA cross-link repair 1B
  • DEPDC1 encoding protein DEP domain containing 1
  • DIRAS3 (1p31): DIRAS family, GTP-binding RAS-like 3
  • DPH5: Diphthine synthase
  • DVL1 (1p36)
  • ENO1 (1p36)
  • EPHA2 (1p36)
  • EPS15 (1p32)
  • ESPN: espin (autosomal recessive deafness 36)
  • EVI5: ecotropic viral integration site 5
  • EXTL1: exostosin like glycosyltransferase 1
  • EXTL2: exostosin like glycosyltransferase 2
  • FAM46B: family with sequence similarity 46, member B
  • FAM46C: family with sequence similarity 46, member C
  • FAM76A: family with sequence similarity 76, member A
  • FBXO2: F-box protein 2
  • FNBP1L encoding protein Formin-binding protein 1-like
  • FPGT: Fucose-1-phosphate guanylyltransferase
  • FUBP1 (1p31)
  • GALE: UDP-galactose-4-epimerase
  • GADD45A (1p31)
  • GBP1 (1p22)
  • GBP2: guanylate binding protein 2
  • GBP5 encoding protein Guanylate binding protein 5
  • GJB3: gap junction protein, beta 3, 31kDa (connexin 31)
  • GLMN (1p22)
  • GNL2: G protein nucleolar 2
  • GSTM1 (1p13)
  • HDAC1 (1p35)
  • HES2: Hes family bHLH transcription factor 2
  • HES3: Hes family bHLH transcription factor 3
  • HMGCL: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)
  • HAO2 encoding protein Hydroxyacid oxidase 2
  • HMGCS2: 3-hydroxy-3-methylglutaryl-CoA synthase 2
  • HP1BP3: Heterochromatin protein 1, binding protein 3
  • IFI6: Interferon alpha-inducible protein 6
  • IL22RA1 (1p36)
  • INTS11: Integrator complex subunit 11
  • JAK1 (1p31)
  • JUN (1p32)
  • KCNQ4: potassium voltage-gated channel, KQT-like subfamily, member 4
  • KIF1B: kinesin family member 1B
  • L1TD1: LINE-1 type transposase domain containing 1
  • LCK (1p35)
  • LINC01137: encoding protein Long intergenic non-protein coding RNA 1137
  • LRRC39: Leucine-rich repeat-containing protein 39
  • LRRC40: Leucine-rich repeat-containing protein 40
  • LRRC41: Leucine-rich repeat-containing protein 41
  • LRRC8D: Leucine-rich repeat-containing protein 8D
  • MAN1A2: Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB
  • MEAF6: MYST/ESA1 associated factor 6
  • MECR: Trans-2-enoyl-CoA reductase, mitochondrial
  • MFAP2: Microfibrillar-associated protein 2
  • MIB2 (1p36)
  • MIER1 (1p31)
  • MFN2: mitofusin 2
  • MFSD2: Major facilitator superfamily domain containing 2A
  • MIR6079: microRNA 6079
  • MMEL1: Membrane metallo-endopeptidase-like 1
  • MTFR1L: mitochondrial fission regulator 1 like
  • MTHFR (1p36): 5,10-methylenetetrahydrofolate reductase (NADPH)
  • MUL1: Mitochondrial E3 ubiquitin protein ligase 1
  • MUTYH (1p34): mutY homolog (E. coli)
  • NBPF3: Neuroblastoma breakpoint family member 3
  • NDUFA4P1: encoding protein Nadh dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kda, pseudogene 1
  • NGF: Nerve Growth Factor
  • NOL9: Nucleolar protein 9
  • NRAS (1p13)
  • NOTCH2 (1p12)
  • OLFML3: Olfactomedin-like 3
  • OMA1: Metalloendopeptidase OMA1, mitochondrial
  • OVGP1: Oviductal glycoprotein 1
  • PARK7 (1p36): Parkinson disease (autosomal recessive, early onset) 7
  • PINK1: PTEN induced putative kinase 1
  • PLOD1: procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
  • PRMT6: Protein arginine methyltransferase 6
  • PSRC1: Proline/serine-rich coiled-coil protein 1
  • RAD54L: RAD54-like
  • RAP1A (1p13)
  • RBM15 (1p13)
  • RCC2: Regulator of chromosome condensation 2
  • REG4 (1p12)
  • RHBDL2: Rhomboid like 2
  • RHOC (1p13)
  • RLF: rearranged L-myc fusion
  • RNF11 (1p32)
  • RNF220: RING finger protein 220
  • RPA2 (1p35)
  • RSPO1 (1p34)
  • S100A1 (1q21)
  • SAMD11: encoding protein Sterile alpha motif domain containing 11
  • SDC3: Syndecan-3
  • SDHB (1p36)
  • SFPQ (1p34)
  • SGIP1: SH3 domain GRB2-like protein 3-interaction protein 1
  • SH3BGRL3: SH3 domain-binding glutamic acid-rich-like protein 3
  • SLC16A1 (1p13)
  • SPSB1: SPRY domain-containing SOCS box protein 1
  • STIL (1p33)
  • SYCP1: Synaptonemal complex protein 1
  • SZT2: Seizure threshold 2 homolog
  • TACSTD2: tumor-associated calcium signal transducer 2
  • TAL1 (1p33)
  • TCTEX1D4: encoding protein Tctex1 domain containing 4
  • TCEB3: Transcription elongation factor B polypeptide 3
  • TGFBR3 (1p22)
  • THRAP3 (1p34)
  • TIE1 (1p34)
  • TMCO2: encoding protein transmembrane and coiled-coil domains 2
  • TMCO4: encoding protein transmembrane and coiled-coil domains 4
  • TMEM48: encoding protein nucleoporin NDC1
  • TMEM50A: Transmembrane protein 50A
  • TMEM59: Transmembrane protein 59
  • TMEM69: Transmembrane protein 69
  • TMEM201 encoding protein Transmembrane protein 201
  • TMEM222: Transmembrane protein 222
  • TOE1: Target of EGR1 protein 1
  • TRAPPC3: Trafficking protein particle complex subunit 3
  • TRIT1: tRNA isopentenyltransferase, mitochondrial
  • TSHB: thyroid stimulating hormone, beta
  • TTC39A: Tetratricopeptide repeat 39A
  • UBR4: E3 ubiquitin-protein ligase component n-recognin 4
  • UROD: uroporphyrinogen decarboxylase (the gene for porphyria cutanea tarda)
  • USP1 (1p31)
  • USP48: Ubiquitin carboxyl-terminal hydrolase 48
  • VAV3 (1p13)
  • VPS13D: Vacuolar protein sorting-associated protein 13D
  • VTCN1 (1p13)
  • WARS2: Tryptophanyl-tRNA synthetase, mitochondrial
  • WDR77 (1p13)
  • YBX1 (1p34)
  • ZCCHC17: zinc finger CCHC-type containing 17
  • ZMYM1 encoding protein Zinc finger MYM-type containing 1
  • ZNF436: Zinc finger protein 436
  • ZYG11B encoding protein Zyg-11 family member B, cell cycle regulator
  • ZZZ3: ZZ-type zinc finger-containing protein 3

q-arm

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인간 1번 염색체의 q-arm (long arm)에 있는 유전자의 일부 목록이다.

  • ABL2 (1q25)
  • ADIPOR1 (1q32)
  • AHCTF1: encoding protein ELYS
  • AKT3 (1q43-44)
  • ANGPTL1: Angiopoietin-related protein 1
  • ARHGEF2 (1q22)
  • ARID4B: encoding protein AT-rich interactive domain-containing protein 4B
  • ARV1 encoding protein ARV1 homolog (S. cerevisiae)
  • ARNT (1q21)
  • ASPM (1q31): a brain size determinant
  • ATF3 (1q32)
  • ATP2B4 (1q32)
  • BCL9 (1q21)
  • CATSPERE: encoding protein Catsper channel auxiliary subunit epsilon
  • C1orf21: chromosome 1 open reading frame 21
  • MMTAP2 encoding protein Multiple myeloma tumor-associated protein 2
  • TEX35: TEX35
  • C1orf74: chromosome 1 open reading frame 74
  • C2CD4D: C2 calcium-dependent domain-containing 4D
  • CD5L: CD5 molecule like
  • CENPL: Centromere protein L
  • CENPF (1q41)
  • CHTOP: Chromatin target of prmt1
  • CNIH4: cornichon homolog 4
  • CNST: Consortin
  • CREG1: Cellular repressor of E1A stimulated genes 1
  • CRP: C-reactive protein
  • CRTC2 (1q21)
  • CSRP1: Cysteine and glycine rich protein 1
  • DCAF8: encoding protein DDB1 and CUL4 associated factor 8
  • DDX59: DEAD-box helicase 59
  • DEL1Q21: encoding protein Chromosome 1q21.1 deletion syndrome
  • DPT: Dermatopontin
  • DISC2, long non-coding RNA
  • DNAH14 encoding protein Dynein, axonemal, heavy chain 14
  • DUSP10 (1q41)
  • DUSP27: encoding protein Dual specificity phosphatase 27 (putative)
  • ECM1 (1q21)
  • EDEM3: ER degradation enhancing alpha-mannosidase like protein 3
  • EGLN1 (1q42)
  • ENAH (1q42)
  • ESRRG (1q41)
  • FAM163A: encoding protein neuroblastoma-derived secretory protein
  • FAM20B: FAM20B, glycosaminoglycan xylosylkinase
  • FAM63A: Family with sequence similarity 63, member A
  • FAM78B: family with sequence similarity 78, member B
  • FAM129A: family with sequence similarity 129, member A
  • FBXO28: F-box protein 28
  • FCMR: Fc fragment of IgM receptor
  • FCGR2B (1q23)
  • FCGR2C: encoding protein Fc fragment of igg receptor iic (gene/pseudogene)
  • FH (1q43): fumarase
  • FMO3: flavin containing monooxygenase 3
  • FRA1J encoding protein Fragile site, 5-azacytidine type, common, fra(1)(q12)
  • G0S2: encoding G0/G1 switch 2
  • GAS5 (1q25)
  • GBA: glucosidase, beta; acid (includes glucosylceramidase) (gene for Gaucher disease)
  • GBAP1: glucosylceramidase beta pseudogene 1
  • GLC1A: gene for glaucoma
  • GON4L: gon-4 like
  • GPA33 (1q24)
  • GPR37L1 G protein-coupled receptor 37 like 1
  • HEATR1: HEAT repeat-containing protein 1
  • HFE2: hemochromatosis type 2 (juvenile)
  • HIST2H2AB: Histone 2A type 2-B
  • HIST2H2BF: Histone H2B type 2-F
  • HIST2H3PS2: Histone cluster 2, H3, pseudogene 2
  • HIST3H2A: Histone H2A type 3
  • HIST3H2BB: Histone H2B type 3-B
  • HPC1: gene for prostate cancer
  • HRM2: Hair, curly
  • IGSF8 (1q23)
  • INAVA: Innate immunity activator protein
  • INTS3: Integrator complex subunit 3
  • IRF6: gene for connective tissue formation
  • KCNH1 (1q32)
  • KIF14 (1q32)
  • LEFTY1: Left-right determination factor 1
  • LHX9 encoding protein LIM homeobox 9
  • LMNA: lamin A/C
  • LOC645166 encoding protein Lymphocyte-specific protein 1 pseudogene
  • LYPLAL1: Lysophospholipase-like 1
  • MAPKAPK2 (1q32)
  • MIR194-1: microRNA 194-1
  • MIR5008: microRNA 5008
  • MPC2: Mitochondrial pyruvate carrier 2
  • MOSC1: MOCO sulphurase C-terminal domain containing 1
  • MOSC2: MOSC domain-containing protein 2, mitochondrial
  • MPZ: myelin protein zero (Charcot–Marie–Tooth neuropathy 1B)
  • MSTO1: misato 1
  • MTR: 5-methyltetrahydrofolate-homocysteine methyltransferase
  • NAV1: Neuron navigator 1
  • NBPF16: Neuroblastoma breakpoint family, member 16
  • NOC2L: Nucleolar complex protein 2 homolog
  • NUCKS1: Nuclear ubiquitous casein and cyclin-dependent kinases substrate
  • NVL: Nuclear valosin-containing protein-like
  • OLFML2B: Olfactomedin-like 2B
  • OPTC: Opticin
  • OTUD7B: OTU domain-containing protein 7B
  • PACERR encoding protein PTGS2 antisense NFKB1 complex-mediated expression regulator RNA
  • PBX1 (1q23)
  • PEA15 (1q23)
  • PGDB5: PiggyBac transposable element derived 5
  • PIAS3 (1q21)
  • PI4KB: Phosphatidylinositol 4-kinase beta
  • PIP5K1A (1q21): Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha
  • PLA2G4A (1q31)
  • PPOX: protoporphyrinogen oxidase
  • PRCC (1q23)
  • PRR9 encoding protein Proline rich 9
  • PSEN2 (1q42): presenilin 2 (Alzheimer disease 4)
  • PTGS2 (1q31)
  • PTPN14 (1q32-41)
  • PTPN7 (1q32)
  • RABIF: RAB interacting factor
  • RASSF5 (1q32)
  • RGS2 (1q31)
  • RN5S1@: RNA, 5S ribosomal 1q42 cluster
  • RPS27 (1q21)
  • SCAMP3: Secretory carrier-associated membrane protein 3
  • SDHC (1q23)
  • SELE (1q24)
  • SHC1 (1q21)
  • SLC39A1 (1q21)
  • SLC50A1: Solute carrier family 50 member 1
  • SMCP: Sperm mitochondrial-associated cysteine-rich protein
  • SMG7: nonsense mediated mRNA decay factor
  • SMYD3 (1q44)
  • SPG23
  • SPRR1A: Cornifin-A
  • SPRR1B: Cornifin-B
  • SPRR2A: Small proline rich protein 2A
  • SPRTN: Spartan
  • TARBP1: TAR (HIV-1) RNA-binding protein 1
  • TBCE: Tubulin-specific chaperone E
  • THBS3: Thrombospondin 3
  • TMCO1: Transmembrane and coiled-coil domain-containing protein 1
  • TMEM9: Transmembrane protein 9
  • TMEM63A: Transmembrane protein 63A
  • TMEM81: Transmembrane protein 81
  • TNFAIP8L2: encoding TNF alpha induced protein 8 like 2
  • TNFSF18 (1q25)
  • TNN (1q25)
  • TNNT2: cardiac troponin T2
  • TOR1AIP1: Torsin-1A-interacting protein 1
  • TOR3A: encoding protein Torsin family 3 member A
  • TP53BP2 (1q41)
  • TRE-CTC1-5: Transfer RNA-Glu (CTC) 1-5
  • TRP (1q31)
  • UAP1: UDP-N-acetylhexosamine pyrophosphorylase
  • USH2A: Usher syndrome 2A (autosomal recessive, mild)
  • USF1 (1q23)
  • VANGL2: encoding protein VANGL planar cell polarity protein 2
  • VPS45: Vacuolar protein sorting-associated protein 45
  • VPS72: Vacuolar protein sorting-associated protein 72
  • YY1AP1: YY1-associated protein 1
  • ZBED6: zinc finger, BED-type containing 6
  • ZC3H11A: Zinc finger CCCH domain-containing protein 11A
  • ZNF648 encoding protein Zinc finger protein 648
  • ZNF669: Zinc finger protein 669
  • ZNF687: Zinc finger protein 687
  • ZNF692: Zinc finger protein 692
  • ZNF695: Zinc finger protein 695

질병 및 장애

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이 염색체와 관련된 알려진 질병은 890가지이다.  이러한 질병 중 일부는 청각 장애, 알츠하이머병, 녹내장 및 유방암이다. 1번 염색체의 재배열 및 돌연변이는 암 및 기타 많은 질병에서 만연하다. 서열 변이의 패턴은 인간의 건강에 기여할 수 있는 특정 유전자의 최근 선택 신호와 기능이 명확하지 않은 영역을 나타낸다.

완전한 일염색체성(전체 염색체의 사본이 하나만 있음)은 출생 전에 항상 치명적이다.[14] 완전한 삼염색체(전체 염색체의 3개 사본 보유)는 수태 후 수일 이내에 치명적이다.[14] 일부 부분 삭제 및 부분 복제는 선천적 장애를 생성한다.

다음 질병은 1번 염색체의 유전자와 관련된 질병 중 일부이다. (인간 염색체 중 가장 잘 알려진 유전성 질환 포함)

 

세포유전학적 밴드

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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,[15] 550[16] and 850[2]). Band length in this diagram is based on the ideograms from ISCN (2013).[17] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process.[18]
G-bands of human chromosome 1 in resolution 850 bphs
Chr. Arm Band ISCN

start 		ISCN

stop[19] 		Basepair

start 		Basepair

stop 		Stain Density
1 p 36.33 0 100 1 2300000 gneg
1 p 36.32 100 244 2300001 5300000 gpos 25
1 p 36.31 244 344 5300001 7100000 gneg
1 p 36.23 344 459 7100001 9100000 gpos 25
1 p 36.22 459 660 9100001 12500000 gneg
1 p 36.21 660 861 12500001 15900000 gpos 50
1 p 36.13 861 1206 15900001 20100000 gneg
1 p 36.12 1206 1321 20100001 23600000 gpos 25
1 p 36.11 1321 1521 23600001 27600000 gneg
1 p 35.3 1521 1651 27600001 29900000 gpos 25
1 p 35.2 1651 1780 29900001 32300000 gneg
1 p 35.1 1780 1895 32300001 34300000 gpos 25
1 p 34.3 1895 2210 34300001 39600000 gneg
1 p 34.2 2210 2411 39600001 43700000 gpos 25
1 p 34.1 2411 2770 43700001 46300000 gneg
1 p 33 2770 2986 46300001 50200000 gpos 75
1 p 32.3 2986 3273 50200001 55600000 gneg
1 p 32.2 3273 3416 55600001 58500000 gpos 50
1 p 32.1 3416 3732 58500001 60800000 gneg
1 p 31.3 3732 3976 60800001 68500000 gpos 50
1 p 31.2 3976 4206 68500001 69300000 gneg
1 p 31.1 4206 4852 69300001 84400000 gpos 100
1 p 22.3 4852 5210 84400001 87900000 gneg
1 p 22.2 5210 5440 87900001 91500000 gpos 75
1 p 22.1 5440 5741 91500001 94300000 gneg
1 p 21.3 5741 5957 94300001 99300000 gpos 75
1 p 21.2 5957 6029 99300001 101800000 gneg
1 p 21.1 6029 6244 101800001 106700000 gpos 100
1 p 13.3 6244 6459 106700001 111200000 gneg
1 p 13.2 6459 6660 111200001 115500000 gpos 50
1 p 13.1 6660 6861 115500001 117200000 gneg
1 p 12 6861 7048 117200001 120400000 gpos 50
1 p 11.2 7048 7119 120400001 121700000 gneg
1 p 11.1 7119 7335 121700001 123400000 acen
1 q 11 7335 7579 123400001 125100000 acen
1 q 12 7579 8483 125100001 143200000 gvar
1 q 21.1 8483 8756 143200001 147500000 gneg
1 q 21.2 8756 8957 147500001 150600000 gpos 50
1 q 21.3 8957 9244 150600001 155100000 gneg
1 q 22 9244 9459 155100001 156600000 gpos 50
1 q 23.1 9459 9832 156600001 159100000 gneg
1 q 23.2 9832 10048 159100001 160500000 gpos 50
1 q 23.3 10048 10349 160500001 165500000 gneg
1 q 24.1 10349 10507 165500001 167200000 gpos 50
1 q 24.2 10507 10679 167200001 170900000 gneg
1 q 24.3 10679 10894 170900001 173000000 gpos 75
1 q 25.1 10894 11009 173000001 176100000 gneg
1 q 25.2 11009 11196 176100001 180300000 gpos 50
1 q 25.3 11196 11598 180300001 185800000 gneg
1 q 31.1 11598 11827 185800001 190800000 gpos 100
1 q 31.2 11827 11942 190800001 193800000 gneg
1 q 31.3 11942 12172 193800001 198700000 gpos 100
1 q 32.1 12172 12617 198700001 207100000 gneg
1 q 32.2 12617 12803 207100001 211300000 gpos 25
1 q 32.3 12803 13033 211300001 214400000 gneg
1 q 41 13033 13320 214400001 223900000 gpos 100
1 q 42.11 13320 13406 223900001 224400000 gneg
1 q 42.12 13406 13607 224400001 226800000 gpos 25
1 q 42.13 13607 13966 226800001 230500000 gneg
1 q 42.2 13966 14153 230500001 234600000 gpos 50
1 q 42.3 14153 14397 234600001 236400000 gneg
1 q 43 14397 14756 236400001 243500000 gpos 75
1 q 44 14756 15100 243500001 248956422 gneg

각주

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  1. ↑ Tom Strachan; Andrew Read (2010년 4월 2일). 《Human Molecular Genetics》. Garland Science. 45쪽. ISBN 978-1-136-84407-2. 
  2. ↑ 가 나 Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
  3. ↑ http://vega.sanger.ac.uk/Homo_sapiens/mapview?chr=1 Chromosome size and number of genes derived from this database, retrieved 2012-03-11.
  4. ↑ “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. 
  5. ↑ 1번 단완 염색체 결실 증후군네이버 지식백과-건강백과
  6. ↑ 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. 
  7. ↑ “Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene”. 《NCBI》. 2016년 9월 8일. 2017년 5월 28일에 확인함. 
  8. ↑ “Statistics & Downloads for chromosome 1”. 《HUGO Gene Nomenclature Committee》. 2017년 5월 12일. 2017년 6월 29일에 원본 문서에서 보존된 문서. 2017년 5월 19일에 확인함. 
  9. ↑ “Chromosome 1: Chromosome summary - Homo sapiens”. 《Ensembl Release 88》. 2017년 3월 29일. 2017년 5월 19일에 확인함. 
  10. ↑ “Human chromosome 1: entries, gene names and cross-references to MIM”. 《UniProt》. 2018년 2월 28일. 2018년 3월 16일에 확인함. 
  11. ↑ “Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene”. 《NCBI》. 2017년 5월 19일. 2017년 5월 20일에 확인함. 
  12. ↑ “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》. 2017년 5월 19일. 2017년 5월 20일에 확인함. 
  13. ↑ “Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene”. 《NCBI》. 2017년 5월 19일. 2017년 5월 20일에 확인함. 
  14. ↑ 가 나 Gersen, Steven L.; Keagle, Martha B. (2013년 3월 26일). 《The Principles of Clinical Cytogenetics》 (영어). Springer Science & Business Media. 278쪽. ISBN 9781441916884. 
  15. ↑ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26.
  16. ↑ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26.
  17. ↑ 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. 
  18. ↑ 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. 
  19. ↑ 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.
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