Human chromosome
Chromosome 1 is the designation for the largest human chromosome . Humans have two copies of chromosome 1, as they do with all of the autosomes , which are the non-sex chromosomes . Chromosome 1 spans about 249 million nucleotide base pairs , which are the basic units of information for DNA .[ 4] [ 5]
It was the last completed chromosome, sequenced two decades after the beginning of the Human Genome Project .
Genes
Number of genes
The following are some of the gene count estimates of human chromosome 1. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction ). Among various projects, the collaborative consensus coding sequence project (CCDS ) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.[ 6]
Estimated by
Protein-coding genes
Non-coding RNA genes
Pseudogenes
Source
Release date
CCDS 1,961
—
—
[ 1] 2016-09-08
HGNC 1,993
707
1,113
[ 7] 2017-05-12
Ensembl 2,044
1,924
1,223
[ 8] 2017-03-29
UniProt 2,064
—
—
[ 9] 2018-02-28
NCBI 2,093
1,790
1,426
[ 10] [ 11] [ 12] 2017-05-19
Gene list
The following is a partial list of genes on human chromosome 1. For complete list, see the link in the infobox on the right.
C1orf112 : encoding protein Chromosome 1 open reading frame 112C1orf127 : encoding protein Chromosome 1 open reading frame 127C1orf27 : encoding protein Chromosome 1 open reading frame 27C1orf38 : encoding protein Chromosome 1 open reading frame 38CCDC181 : encoding protein Coiled-coil domain-containing protein 181DENN1B : hypothesized to be related to asthmaFHAD1 : encoding protein Forkhead-associated domain containing protein 1LOC100132287 : uncharacterized proteinLRRIQ3 : encoding protein Leucine-rich repeats and IQ motif containing 3Shisa family member 4 : encoding protein Shisa family member 4TINAGL1 : encoding protein Tubulointerstitial nephritis antigen-like
p-arm
Partial list of the genes located on p-arm (short arm) of human chromosome 1:
AADACL3 : Arylacetamide deacetylase-like 3AADACL4 : Arylacetamide deacetylase-like 4ACADM : acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chainACTG1P6 : encoding protein Actin, gamma 1 pseudogene 6ACTL8 : Actin-like 8ADGRL2 (1p31.1): adhesion G protein-coupled receptor L2ADPRHL2 : Poly(ADP-ribose) glycohydrolase ARH3AMPD2 : encoding enzyme AMP deaminase 2ARID1A (1p36)ATXN7L2 : Ataxin 7-like 2AZIN2 : encoding enzyme Antizyme inhibitor 2 (AzI2) also known as arginine decarboxylase (ADC)BCAS2 : Breast carcinoma amplified sequence 2BCL10 (1p22)LRIF1 : encoding protein Ligand-dependent nuclear receptor-interacting factor 1C1orf109 : chromosome 1 open reading frame 109C1orf162 : encoding protein Chromosome 1 open reading frame 162C1orf194 : encoding protein Chromosome 1 open reading frame 194CZIB : chromosome 1 open reading frame 123CACHD1 encoding protein Cache domain containing 1CAMK2N1 : encoding protein Calcium/calmodulin dependent protein kinase II inhibitor 1CAMTA1 (1p36)CASP9 (1p36)CASZ1 (1p36): Castor zinc finger 1CCDC17 : encoding protein Coiled-coil domain containing 17CCDC18 : encoding protein Coiled-coil domain containing 18CEP85 : encoding protein Centrosomal protein 85CFAP74 : encoding protein Cilia and flagella associated protein 74CHD5 (1p36)CLIC4 (1p36)CLSPN (1p34)CMPK : UMP-CMP kinaseCOL16A1 (1p35)COL11A1 : collagen, type XI, alpha 1CPT2 : carnitine palmitoyltransferase IICRYZ : Crystallin zetaCSDE1 : Cold shock domain containing E1CYP4B1 (1p33)CYR61 (1p22)DBT : dihydrolipoamide branched chain transacylase E2DCLRE1B : DNA cross-link repair 1BDEPDC1 encoding protein DEP domain containing 1DIRAS3 (1p31): DIRAS family, GTP-binding RAS-like 3DISP3 : encoding protein Dispatched rnd transporter family member 3DNASE2B : encoding protein Deoxyribonuclease 2 betaDPH5 : Diphthine synthaseDVL1 (1p36)ENO1 (1p36)EPHA2 (1p36)EPS15 (1p32)ESPN : espin (autosomal recessive deafness 36)EVI5 : ecotropic viral integration site 5EXO5 : encoding protein Exonuclease 5EXTL1 : exostosin like glycosyltransferase 1EXTL2 : exostosin like glycosyltransferase 2FAAH : Fatty-acid amide hydrolase 1FAM46B : family with sequence similarity 46, member BFAM46C : family with sequence similarity 46, member CFAM76A : family with sequence similarity 76, member AFAM87B : encoding protein Family with sequence similarity 87 member BFBXO2 : F-box protein 2FNBP1L encoding protein Formin-binding protein 1-likeFPGT : Fucose-1-phosphate guanylyltransferaseFUBP1 (1p31)GALE : UDP-galactose-4-epimeraseGADD45A (1p31)GBP1 (1p22)GBP2 : guanylate binding protein 2GBP5 encoding protein Guanylate binding protein 5GBP6 : encoding protein Guanylate binding protein family member 6GJB3 : gap junction protein, beta 3, 31kDa (connexin 31)GLMN (1p22)GNL2 : G protein nucleolar 2GSTM1 (1p13)GUCA2B : encoding protein Guanylate cyclase activator 2BHDAC1 (1p35)HES2 : Hes family bHLH transcription factor 2HES3 : Hes family bHLH transcription factor 3HMGCL : 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)HAO2 encoding protein Hydroxyacid oxidase 2HMGCS2 : 3-hydroxy-3-methylglutaryl-CoA synthase 2HP1BP3 : Heterochromatin protein 1, binding protein 3IFI6 : Interferon alpha-inducible protein 6IL22RA1 (1p36)INTS11 : Integrator complex subunit 11JAK1 (1p31)JUN (1p32)KANK4 : encoding protein KN motif and ankyrin repeat domains 4KCNQ4 : potassium voltage-gated channel, KQT-like subfamily, member 4KIF1B : kinesin family member 1BL1TD1 : LINE-1 type transposase domain containing 1LCK (1p35)LINC01137 : encoding protein Long intergenic non-protein coding RNA 1137LRRC39 : Leucine-rich repeat-containing protein 39LRRC40 : Leucine-rich repeat-containing protein 40LRRC41 : Leucine-rich repeat-containing protein 41LRRC8D : Leucine-rich repeat-containing protein 8DMACO1 : encoding protein Transmembrane protein 57MAN1A2 : Mannosyl-oligosaccharide 1,2-alpha-mannosidase IBMAP3K6 : encoding protein Mitogen-activated protein kinase kinase kinase 6MEAF6 : MYST/ESA1 associated factor 6MECR : Trans-2-enoyl-CoA reductase, mitochondrialMFAP2 : Microfibrillar-associated protein 2MIB2 (1p36)MIER1 (1p31)MIGA1 : encoding protein Mitoguardin 1MFN2 : mitofusin 2MFSD2 : Major facilitator superfamily domain containing 2AMIR6079 : microRNA 6079MMEL1 : Membrane metallo-endopeptidase-like 1MTFR1L : mitochondrial fission regulator 1 likeMTHFR (1p36): 5,10-methylenetetrahydrofolate reductase (NADPH)MUL1 : Mitochondrial E3 ubiquitin protein ligase 1MUTYH (1p34): mutY homolog (E. coli)NBPF3 : Neuroblastoma breakpoint family member 3NDUFA4P1 : encoding protein Nadh dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kda, pseudogene 1NGF : Nerve Growth FactorNOL9 : Nucleolar protein 9NRAS (1p13)NOTCH2 (1p12)OLFML3 : Olfactomedin-like 3OMA1 : Metalloendopeptidase OMA1, mitochondrialOVGP1 : Oviductal glycoprotein 1PARK7 (1p36): Parkinson disease (autosomal recessive, early onset) 7PINK1 : PTEN induced putative kinase 1PLOD1 : procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1PRAMEF10 : encoding protein Prame family member 10PRMT6 : Protein arginine methyltransferase 6PRXL2B : encoding protein Peroxiredoxin like 2BPSRC1 : Proline/serine-rich coiled-coil protein 1RAD54L : RAD54-likeRAP1A (1p13)RBM15 (1p13)RCC2 : Regulator of chromosome condensation 2REG4 (1p12)RHBDL2 : Rhomboid like 2RHOC (1p13)RIMS3 : encoding protein Regulating synaptic membrane exocytosis 3RLF : rearranged L-myc fusionRNF11 (1p32)RNF19B : encoding protein Ring finger protein 19BRNF220 : RING finger protein 220RPA2 (1p35)RSPO1 (1p34)S100A1 (1q21)SAMD11 : encoding protein Sterile alpha motif domain containing 11SDC3 : Syndecan-3SDHB (1p36)SFPQ (1p34): encoding protein Splicing factor proline and glutamine richSGIP1 : SH3 domain GRB2-like protein 3-interaction protein 1SH3BGRL3 : SH3 domain-binding glutamic acid-rich-like protein 3SLC16A1 (1p13)SLC2A1 Glucose transporter 1SPSB1 : SPRY domain-containing SOCS box protein 1STIL (1p33)SYCP1 : Synaptonemal complex protein 1SZT2 : Seizure threshold 2 homologTACSTD2 : tumor-associated calcium signal transducer 2TAL1 (1p33)TCTEX1D4 : encoding protein Tctex1 domain containing 4TCEB3 : Transcription elongation factor B polypeptide 3TGFBR3 (1p22)THRAP3 (1p34)TIE1 (1p34)TM2D1 : encoding protein Tm2 domain containing 1TMCO2 : encoding protein transmembrane and coiled-coil domains 2TMCO4 : encoding protein transmembrane and coiled-coil domains 4TMEM48 : encoding protein nucleoporin NDC1 TMEM50A : Transmembrane protein 50ATMEM59 : Transmembrane protein 59TMEM69 : Transmembrane protein 69TMEM201 encoding protein Transmembrane protein 201TMEM222 : Transmembrane protein 222TOE1 : Target of EGR1 protein 1TRABD2B : encoding protein Trab domain containing 2bTRAPPC3 : Trafficking protein particle complex subunit 3TRIT1 : tRNA isopentenyltransferase, mitochondrialTSHB : thyroid stimulating hormone, betaTTC39A : Tetratricopeptide repeat 39AUBR4 : E3 ubiquitin-protein ligase component n-recognin 4UROD : uroporphyrinogen decarboxylase (the gene for porphyria cutanea tarda )USP1 (1p31)USP48 : Ubiquitin carboxyl-terminal hydrolase 48VAV3 (1p13)VPS13D : Vacuolar protein sorting-associated protein 13DVTCN1 (1p13)WARS2 : Tryptophanyl-tRNA synthetase, mitochondrialWDR77 (1p13)YBX1 (1p34)ZCCHC17 : zinc finger CCHC-type containing 17ZFP69 : encoding protein Zfp69 zinc finger proteinZMYM1 encoding protein Zinc finger MYM-type containing 1ZNF436 : Zinc finger protein 436ZNF684 : encoding protein Zinc finger protein 684ZYG11B encoding protein Zyg-11 family member B, cell cycle regulatorZZZ3 : ZZ-type zinc finger-containing protein 3
q-arm
Partial list of the genes located on q-arm (long arm) of human chromosome 1:
ABL2 (1q25)ADIPOR1 (1q32)AHCTF1 : encoding protein ELYSAKT3 (1q43-44)ANGPTL1 : Angiopoietin-related protein 1ARHGEF2 (1q22)ARID4B : encoding protein AT-rich interactive domain-containing protein 4BARV1 encoding protein ARV1 homolog (S. cerevisiae)ARNT (1q21)ASPM (1q31): a brain size determinantATF3 (1q32)ATP2B4 (1q32)BCL9 (1q21)CATSPERE : encoding protein Catsper channel auxiliary subunit epsilonC1orf21 : chromosome 1 open reading frame 21MMTAP2 encoding protein Multiple myeloma tumor-associated protein 2TEX35 : TEX35C1orf74 : chromosome 1 open reading frame 74C2CD4D : C2 calcium-dependent domain-containing 4DCTSS: Cathepsin S
CD5L : CD5 molecule likeCENPL : Centromere protein LCENPF (1q41)CHTOP : Chromatin target of prmt1CNIH4 : cornichon homolog 4CNST : ConsortinCREG1 : Cellular repressor of E1A stimulated genes 1CRP : C-reactive proteinCRTC2 (1q21)CSRP1 : Cysteine and glycine rich protein 1DCAF8 : encoding protein DDB1 and CUL4 associated factor 8DDX59 : DEAD-box helicase 59DEL1Q21 : encoding protein Chromosome 1q21.1 deletion syndromeDPT : DermatopontinDISC2 , long non-coding RNA DNAH14 encoding protein Dynein, axonemal, heavy chain 14DUSP10 (1q41)DUSP27 : encoding protein Dual specificity phosphatase 27 (putative)ECM1 (1q21)EDEM3 : ER degradation enhancing alpha-mannosidase like protein 3EGLN1 (1q42)ELF3 : encoding protein E74 like ets transcription factor 3ENAH (1q42)ESRRG (1q41)FAM129A : family with sequence similarity 129, member AFAM163A : encoding protein neuroblastoma-derived secretory proteinFAM20B : FAM20B, glycosaminoglycan xylosylkinaseFAM63A : Family with sequence similarity 63, member AFAM78B : family with sequence similarity 78, member BFAM89A : encoding protein Fam89AFBXO28 : F-box protein 28FCMR : Fc fragment of IgM receptorFCGR2B (1q23)FCGR2C : encoding protein Fc fragment of igg receptor iic (gene/pseudogene)FH (1q43): fumarase FLAD1 : encoding protein Flavin adenine dinucleotide synthetase 1FLG-AS1 : encoding protein FLG antisense RNA 1FMO3 : flavin containing monooxygenase 3FRA1J encoding protein Fragile site, 5-azacytidine type, common, fra(1)(q12)G0S2 : encoding G0/G1 switch 2GAS5 (1q25)GBA : glucosidase, beta; acid (includes glucosylceramidase) (gene for Gaucher disease )GBAP1 : glucosylceramidase beta pseudogene 1GLC1A : gene for glaucoma GON4L : gon-4 likeGPA33 (1q24)GPR37L1 G protein-coupled receptor 37 like 1H3C13 : encoding protein Histone cluster 2 h3 family member dHEATR1 : HEAT repeat-containing protein 1HFE2 : hemochromatosis type 2 (juvenile)HIST2H2AB : Histone 2A type 2-BHIST2H2BF : Histone H2B type 2-FHIST2H3PS2 : Histone cluster 2, H3, pseudogene 2HIST3H2A : Histone H2A type 3HIST3H2BB : Histone H2B type 3-BHRM2 : Hair, curlyIGSF8 (1q23)INAVA : Innate immunity activator proteinINTS3 : Integrator complex subunit 3IRF2BP2 : encoding protein Interferon regulatory factor 2 binding protein 2IRF6 : gene for connective tissue formationKCNH1 (1q32)KIF14 (1q32)LEFTY1 : Left-right determination factor 1LHX9 encoding protein LIM homeobox 9LMNA : lamin A/CLMOD1 : encoding protein Leiomodin 1LOC645166 encoding protein Lymphocyte-specific protein 1 pseudogeneLYPLAL1 : Lysophospholipase-like 1MAPKAPK2 (1q32)MIR194-1 : microRNA 194-1MIR5008 : microRNA 5008MPC2 : Mitochondrial pyruvate carrier 2MOSC1 : MOCO sulphurase C-terminal domain containing 1MOSC2 : MOSC domain-containing protein 2, mitochondrialMPZ : myelin protein zero (Charcot–Marie–Tooth neuropathy 1B)MSTO1 : misato 1MTR : 5-methyltetrahydrofolate-homocysteine methyltransferaseNAV1 : Neuron navigator 1NBPF16 : Neuroblastoma breakpoint family, member 16NOC2L : Nucleolar complex protein 2 homologNUCKS1 : Nuclear ubiquitous casein and cyclin-dependent kinases substrateNVL : Nuclear valosin-containing protein-likeOLFML2B : Olfactomedin-like 2BOPTC : OpticinOTUD7B : OTU domain-containing protein 7BPACERR encoding protein PTGS2 antisense NFKB1 complex-mediated expression regulator RNAPBX1 (1q23)PEA15 (1q23)PGDB5 : PiggyBac transposable element derived 5PIAS3 (1q21)PI4KB : Phosphatidylinositol 4-kinase betaPIP5K1A (1q21): Phosphatidylinositol-4-phosphate 5-kinase type-1 alphaPLA2G4A (1q31)PPOX : protoporphyrinogen oxidasePRCC (1q23)PRR9 encoding protein Proline rich 9PSEN2 (1q42): presenilin 2 (Alzheimer disease 4)PTGS2 (1q31)PTPN14 (1q32-41)PTPN7 (1q32)RABIF : RAB interacting factorRASSF5 (1q32)RGS2 (1q31)RN5S1@ : RNA, 5S ribosomal 1q42 clusterRPS27 (1q21)SCAMP3 : Secretory carrier-associated membrane protein 3SDHC (1q23)SELE (1q24)SFT2D2 : encoding protein Sft2 domain containing 2SHC1 (1q21)SHCBP1L : encoding protein Shc binding and spindle associated 1 likeSLC30A10 : encoding protein Solute carrier family 30 member 10SLC39A1 (1q21)SLC50A1 : Solute carrier family 50 member 1SMCP : Sperm mitochondrial-associated cysteine-rich proteinSMG7 : nonsense mediated mRNA decay factorSMYD3 (1q44)SPG23 SPRR1A : Cornifin-ASPRR1B : Cornifin-BSPRR2A : Small proline rich protein 2ASPRTN : SpartanTARBP1 : TAR (HIV-1) RNA-binding protein 1TBCE : Tubulin-specific chaperone ETHBS3 : Thrombospondin 3TMCO1 : Transmembrane and coiled-coil domain-containing protein 1TMEM9 : Transmembrane protein 9TMEM63A : Transmembrane protein 63ATMEM81 : Transmembrane protein 81TNFAIP8L2 : encoding TNF alpha induced protein 8 like 2TNFSF18 (1q25)TNNT2 : cardiac troponin T2TOR1AIP1 : Torsin-1A-interacting protein 1TOR3A : encoding protein Torsin family 3 member ATP53BP2 (1q41)TRE-CTC1-5 : Transfer RNA-Glu (CTC) 1-5UAP1 : UDP-N-acetylhexosamine pyrophosphorylaseUSH2A : Usher syndrome 2A (autosomal recessive, mild)USF1 (1q23)VANGL2 : encoding protein VANGL planar cell polarity protein 2VPS45 : Vacuolar protein sorting-associated protein 45VPS72 : Vacuolar protein sorting-associated protein 72YY1AP1 : YY1-associated protein 1ZBED6 : zinc finger, BED-type containing 6ZC3H11A : Zinc finger CCCH domain-containing protein 11AZNF648 encoding protein Zinc finger protein 648ZNF669 : Zinc finger protein 669ZNF687 : Zinc finger protein 687ZNF692 : Zinc finger protein 692ZNF695 : Zinc finger protein 695
Diseases and disorders
There are 890 known diseases related to this chromosome.[citation needed Some of these diseases are hearing loss , Alzheimer's disease , glaucoma and breast cancer . Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident.
Complete monosomy (only having one copy of the entire chromosome) is invariably lethal before birth.[ 13] trisomy (having three copies of the entire chromosome) is lethal within days after conception .[ 13] birth defects .
The following diseases are some of those related to genes on chromosome 1 (which contains the most known genetic diseases of any human chromosome):
Cytogenetic band
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,
[ 14] 550
[ 15] and 850
[ 3] ). 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[ 3]
Chr.
Arm[ 18]
Band[ 19]
ISCN[ 20]
ISCN[ 20]
Basepair
Basepair
Stain[ 21]
Density
1
p
36.33
0
100
gneg
1
p
36.32
100
244
gpos
25
1
p
36.31
244
344
gneg
1
p
36.23
344
459
gpos
25
1
p
36.22
459
660
gneg
1
p
36.21
660
861
gpos
50
1
p
36.13
861
1206
gneg
1
p
36.12
1206
1321
gpos
25
1
p
36.11
1321
1521
gneg
1
p
35.3
1521
1651
gpos
25
1
p
35.2
1651
1780
gneg
1
p
35.1
1780
1895
gpos
25
1
p
34.3
1895
2210
gneg
1
p
34.2
2210
2411
gpos
25
1
p
34.1
2411
2770
gneg
1
p
33
2770
2986
gpos
75
1
p
32.3
2986
3273
gneg
1
p
32.2
3273
3416
gpos
50
1
p
32.1
3416
3732
gneg
1
p
31.3
3732
3976
gpos
50
1
p
31.2
3976
4206
gneg
1
p
31.1
4206
4852
gpos
100
1
p
22.3
4852
5210
gneg
1
p
22.2
5210
5440
gpos
75
1
p
22.1
5440
5741
gneg
1
p
21.3
5741
5957
gpos
75
1
p
21.2
5957
6029
gneg
1
p
21.1
6029
6244
gpos
100
1
p
13.3
6244
6459
gneg
1
p
13.2
6459
6660
gpos
50
1
p
13.1
6660
6861
gneg
1
p
12
6861
7048
gpos
50
1
p
11.2
7048
7119
gneg
1
p
11.1
7119
7335
acen
1
q
11
7335
7579
acen
1
q
12
7579
8483
gvar
1
q
21.1
8483
8756
gneg
1
q
21.2
8756
8957
gpos
50
1
q
21.3
8957
9244
gneg
1
q
22
9244
9459
gpos
50
1
q
23.1
9459
9832
gneg
1
q
23.2
9832
10048
gpos
50
1
q
23.3
10048
10349
gneg
1
q
24.1
10349
10507
gpos
50
1
q
24.2
10507
10679
gneg
1
q
24.3
10679
10894
gpos
75
1
q
25.1
10894
11009
gneg
1
q
25.2
11009
11196
gpos
50
1
q
25.3
11196
11598
gneg
1
q
31.1
11598
11827
gpos
100
1
q
31.2
11827
11942
gneg
1
q
31.3
11942
12172
gpos
100
1
q
32.1
12172
12617
gneg
1
q
32.2
12617
12803
gpos
25
1
q
32.3
12803
13033
gneg
1
q
41
13033
13320
gpos
100
1
q
42.11
13320
13406
gneg
1
q
42.12
13406
13607
gpos
25
1
q
42.13
13607
13966
gneg
1
q
42.2
13966
14153
gpos
50
1
q
42.3
14153
14397
gneg
1
q
43
14397
14756
gpos
75
1
q
44
14756
15100
gneg
References
^ a b "Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene" . NCBI . CCDS Release 20 for Homo sapiens . 2016-09-08. Retrieved 2017-05-28 .^ Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics 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.^ Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, et al. (May 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 . ^ 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. Archived from the original on 2017-06-29. Retrieved 2017-05-19 .^ "Chromosome 1: Chromosome summary - Homo sapiens" . Ensembl Release 88 . 2017-03-29. Retrieved 2017-05-19 .^ "Human chromosome 1: entries, gene names and cross-references to MIM" . UniProt . 2018-02-28. Retrieved 2018-03-16 .^ "Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene" . NCBI . 2017-05-19. Retrieved 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. Retrieved 2017-05-20 .^ "Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene" . NCBI . 2017-05-19. Retrieved 2017-05-20 .^ a b Gersen, Steven L.; Keagle, Martha B. (2013-03-26). The Principles of Clinical Cytogenetics 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) 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" . 2012 Ninth International Conference on Computer Science and Software Engineering (JCSSE) . pp. 276– 282. doi :10.1109/JCSSE.2012.6261965 . ISBN 978-1-4673-1921-8 S2CID 16666470 . ^ "p ": Short arm; "q ": Long arm.
^ For cytogenetic banding nomenclature, see article locus .
^ 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 .
^ gpos : Region which is positively stained by G banding , generally AT-rich and gene poor; gneg : Region which is negatively stained by G banding, generally CG-rich and gene rich; acen Centromere . var : Variable region; stalk : Stalk.
Further reading
Murphy WJ, Fronicke L, O'Brien SJ, Stanyon R (2003). "The Origin of Human Chromosome 1 and Its Homologs in Placental Mammals" . Genome Res . 13 (8): 1880– 8. doi :10.1101/gr.1022303 . PMC 403779 PMID 12869576 . Revera, M.; Van Der Merwe, L; et al. (2007). "Long-term follow-up of R403WMHY7 and R92WTNNT2 HCM families: mutations determine left ventricular dimensions but not wall thickness during disease progression" . Cardiovascular Journal of Africa . 18 (3): 146– 153. PMC 4213759 PMID 17612745 . Schutte BC, Carpten JD, Forus A, Gregory SG, Horii A, White PS (2001). "Report and abstracts of the sixth international workshop on human chromosome 1 mapping 2000. Iowa City, Iowa, USA. 30 September-3 October 2000". Cytogenet Cell Genet . 92 (1– 2): 23– 41. doi :10.1159/000056867 . PMID 11306795 . S2CID 202651814 .
External links
Basic Types Processes Structures
See also
