1번 염색체 는 인간에서 가장 큰 염색체 이다. 인간은 이질염색체 가 아닌 모든 상염색체 와 마찬가지로 1번 염색체에 두 개의 사본을 가지고 있다. 1번 염색체는 DNA 정보의 기본 단위인 약 2억 4,900만 뉴클레오타이드 염기쌍 에 걸쳐 있다.[1] 그것은 인간 세포에 있는 전체 DNA의 약 8%를 차지한다.[2]
상염색체 , 성염색체 를 포함한 인간의 염색체 중에서 길이가 제일 길다. 1번 염색체의 단완의 일부가 결실 되면 해당 부위의 유전자의 일부가 없어지는 유전병 이 발생하는데 이를 1번 단완 염색체 결실 증후군 이라고 한다. 해당 병에 걸리면 안면에 기형이 발생하며 발달장애 , 운동장애 등을 동반하는 경우가 많다. 인종, 성별과 무관하게 1/5000에서 1/10000 정도의 확률로 발생한다.[3]
인간 유전체 프로젝트 가 시작된 지 20년 후에 시퀀싱된 마지막 완성된 염색체였다.
유전자 [ 편집 ]
유전자 수 [ 편집 ]
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.[4]
분석
단백질 암호화 유전자
비암호화 RNA 유전자
슈도진
소스
출시일
CCDS
1,961
—
—
[5]
2016-09-08
HGNC
1,993
707
1,113
[6]
2017-05-12
Ensembl
2,044
1,924
1,223
[7]
2017-03-29
UniProt
2,064
—
—
[8]
2018-02-28
NCBI
2,093
1,790
1,426
[9] [10] [11]
2017-05-19
유전자 목록 [ 편집 ]
다음은 인간 1번 염색체에 있는 유전자의 일부 목록이다. 전체 목록은 오른쪽 정보 상자의 링크를 참조하라.
p-arm [ 편집 ]
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 [ 편집 ]
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 [ 편집 ]
이 염색체와 관련된 알려진 질병은 890가지이다. 이러한 질병 중 일부는 청각 장애 , 알츠하이머병 , 녹내장 및 유방암 이다. 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.[12] 완전한 삼염색체(전체 염색체의 3개 사본 보유)는 수태 후 수일 이내에 치명적이다.[12] 일부 부분 삭제 및 부분 복제는 선천적 장애 를 생성한다.
다음 질병은 1번 염색체의 유전자와 관련된 질병 중 일부이다. (인간 염색체 중 가장 잘 알려진 유전성 질환 포함)
세포유전학적 밴드 [ 편집 ]
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,
[13] 550
[14] and 850
[15] ). Band length in this diagram is based on the ideograms from ISCN (2013).
[16] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the
mitotic process .
[17]
G-bands of human chromosome 1 in resolution 850 bphs
Chr.
Arm
Band
ISCN start
ISCN stop[18]
Basepair start
Basepair stop
Stain
Density
1
p
36.33
0
100
1
2300 000
gneg
1
p
36.32
100
244
2300 001
5300 000
gpos
25
1
p
36.31
244
344
5300 001
7100 000
gneg
1
p
36.23
344
459
7100 001
9100 000
gpos
25
1
p
36.22
459
660
9100 001
12500 000
gneg
1
p
36.21
660
861
12500 001
15900 000
gpos
50
1
p
36.13
861
1206
15900 001
20100 000
gneg
1
p
36.12
1206
1321
20100 001
23600 000
gpos
25
1
p
36.11
1321
1521
23600 001
27600 000
gneg
1
p
35.3
1521
1651
27600 001
29900 000
gpos
25
1
p
35.2
1651
1780
29900 001
32300 000
gneg
1
p
35.1
1780
1895
32300 001
34300 000
gpos
25
1
p
34.3
1895
2210
34300 001
39600 000
gneg
1
p
34.2
2210
2411
39600 001
43700 000
gpos
25
1
p
34.1
2411
2770
43700 001
46300 000
gneg
1
p
33
2770
2986
46300 001
50200 000
gpos
75
1
p
32.3
2986
3273
50200 001
55600 000
gneg
1
p
32.2
3273
3416
55600 001
58500 000
gpos
50
1
p
32.1
3416
3732
58500 001
60800 000
gneg
1
p
31.3
3732
3976
60800 001
68500 000
gpos
50
1
p
31.2
3976
4206
68500 001
69300 000
gneg
1
p
31.1
4206
4852
69300 001
84400 000
gpos
100
1
p
22.3
4852
5210
84400 001
87900 000
gneg
1
p
22.2
5210
5440
87900 001
91500 000
gpos
75
1
p
22.1
5440
5741
91500 001
94300 000
gneg
1
p
21.3
5741
5957
94300 001
99300 000
gpos
75
1
p
21.2
5957
6029
99300 001
101800 000
gneg
1
p
21.1
6029
6244
101800 001
106700 000
gpos
100
1
p
13.3
6244
6459
106700 001
111200 000
gneg
1
p
13.2
6459
6660
111200 001
115500 000
gpos
50
1
p
13.1
6660
6861
115500 001
117200 000
gneg
1
p
12
6861
7048
117200 001
120400 000
gpos
50
1
p
11.2
7048
7119
120400 001
121700 000
gneg
1
p
11.1
7119
7335
121700 001
123400 000
acen
1
q
11
7335
7579
123400 001
125100 000
acen
1
q
12
7579
8483
125100 001
143200 000
gvar
1
q
21.1
8483
8756
143200 001
147500 000
gneg
1
q
21.2
8756
8957
147500 001
150600 000
gpos
50
1
q
21.3
8957
9244
150600 001
155100 000
gneg
1
q
22
9244
9459
155100 001
156600 000
gpos
50
1
q
23.1
9459
9832
156600 001
159100 000
gneg
1
q
23.2
9832
10048
159100 001
160500 000
gpos
50
1
q
23.3
10048
10349
160500 001
165500 000
gneg
1
q
24.1
10349
10507
165500 001
167200 000
gpos
50
1
q
24.2
10507
10679
167200 001
170900 000
gneg
1
q
24.3
10679
10894
170900 001
173000 000
gpos
75
1
q
25.1
10894
11009
173000 001
176100 000
gneg
1
q
25.2
11009
11196
176100 001
180300 000
gpos
50
1
q
25.3
11196
11598
180300 001
185800 000
gneg
1
q
31.1
11598
11827
185800 001
190800 000
gpos
100
1
q
31.2
11827
11942
190800 001
193800 000
gneg
1
q
31.3
11942
12172
193800 001
198700 000
gpos
100
1
q
32.1
12172
12617
198700 001
207100 000
gneg
1
q
32.2
12617
12803
207100 001
211300 000
gpos
25
1
q
32.3
12803
13033
211300 001
214400 000
gneg
1
q
41
13033
13320
214400 001
223900 000
gpos
100
1
q
42.11
13320
13406
223900 001
224400 000
gneg
1
q
42.12
13406
13607
224400 001
226800 000
gpos
25
1
q
42.13
13607
13966
226800 001
230500 000
gneg
1
q
42.2
13966
14153
230500 001
234600 000
gpos
50
1
q
42.3
14153
14397
234600 001
236400 000
gneg
1
q
43
14397
14756
236400 001
243500 000
gpos
75
1
q
44
14756
15100
243500 001
248956 422
gneg
↑ 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 .
↑ 1번 단완 염색체 결실 증후군 네이버 지식백과-건강백과
↑ 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 .
↑ “Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene” . 《NCBI》. 2016년 9월 8일. 2017년 5월 28일에 확인함 .
↑ “Statistics & Downloads for chromosome 1” . 《HUGO Gene Nomenclature Committee》. 2017년 5월 12일. 2017년 5월 19일에 확인함 .
↑ “Chromosome 1: Chromosome summary - Homo sapiens” . 《Ensembl Release 88》. 2017년 3월 29일. 2017년 5월 19일에 확인함 .
↑ “Human chromosome 1: entries, gene names and cross-references to MIM” . 《UniProt》. 2018년 2월 28일. 2018년 3월 16일에 확인함 .
↑ “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 .
↑ “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 .
↑ “Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene” . 《NCBI》. 2017년 5월 19일. 2017년 5월 20일에 확인함 .
↑ 가 나 Gersen, Steven L.; Keagle, Martha B. (2013년 3월 26일). 《The Principles of Clinical Cytogenetics》 (영어). Springer Science & Business Media. 278쪽. 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.
↑ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3) . Last update 2014-06-03. 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 .
↑ 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 .