Human chromosome
Chromosome 1 is the designation for the largesthuman chromosome . Humans have two copies of chromosome 1, as they do with all of theautosomes , which are the non-sex chromosomes . Chromosome 1 spans about 249 millionnucleotide base pairs , which are the basic units of information forDNA .[ 4] [ 5]
It was the last completed chromosome, sequenced two decades after the beginning of theHuman Genome Project .
The following are some of the gene count estimates of human chromosome 1. Because researchers use different approaches togenome annotation their predictions of thenumber of genes on each chromosome varies (for technical details, seegene 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
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 181DENND1B : 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-likePartial 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 : encodingenzyme AMP deaminase 2ARID1A (1p36)ATXN7L2 : Ataxin 7-like 2AZIN2 : encodingenzyme Antizyme inhibitor 2 (AzI2) also known as arginine decarboxylase (ADC)BCAS2 : Breast carcinoma amplified sequence 2BCL10 (1p22)LRIF1 : encodingprotein 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 encodingprotein 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 encodingprotein 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 encodingprotein Formin-binding protein 1-likeFPGT : Fucose-1-phosphate guanylyltransferaseFUBP1 (1p31)GALE : UDP-galactose-4-epimeraseGADD45A (1p31)GBP1 (1p22)GBP2 : guanylate binding protein 2GBP5 encodingprotein 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 encodingprotein 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 : encodingprotein transmembrane and coiled-coil domains 2TMCO4 : encodingprotein transmembrane and coiled-coil domains 4TMEM48 : encodingprotein nucleoporinNDC1 TMEM50A : Transmembrane protein 50ATMEM59 : Transmembrane protein 59TMEM69 : Transmembrane protein 69TMEM201 encodingprotein 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 forporphyria 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 encodingprotein Zinc finger MYM-type containing 1ZNF436 : Zinc finger protein 436ZNF684 : encoding protein Zinc finger protein 684ZYG11B encodingprotein Zyg-11 family member B, cell cycle regulatorZZZ3 : ZZ-type zinc finger-containing protein 3Partial list of the genes located onq-arm (long arm) of human chromosome 1:
ABL2 (1q25)ADIPOR1 (1q32)AHCTF1 : encodingprotein ELYSAKT3 (1q43-44)ANGPTL1 : Angiopoietin-related protein 1ARHGEF2 (1q22)ARID4B : encodingprotein AT-rich interactive domain-containing protein 4BARV1 encodingprotein 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 encodingprotein 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 encodingprotein 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 encodingprotein Fragile site, 5-azacytidine type, common, fra(1)(q12)G0S2 : encoding G0/G1 switch 2GAS5 (1q25)GBA : glucosidase, beta; acid (includes glucosylceramidase) (gene forGaucher disease )GBAP1 : glucosylceramidase beta pseudogene 1GLC1A : gene forglaucoma 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 forconnective tissue formationKCNH1 (1q32)KIF14 (1q32)LEFTY1 : Left-right determination factor 1LHX9 encodingprotein LIM homeobox 9LMNA : lamin A/CLMOD1 : encoding protein Leiomodin 1LOC645166 encodingprotein 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 encodingprotein 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 encodingprotein 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 encodingprotein Zinc finger protein 648ZNF669 : Zinc finger protein 669ZNF687 : Zinc finger protein 687ZNF692 : Zinc finger protein 692ZNF695 : Zinc finger protein 695Diseases and disorders [ edit ] There are 890 known diseases related to this chromosome.[citation needed Some of these diseases arehearing loss ,Alzheimer's disease ,glaucoma andbreast 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.
Completemonosomy (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 afterconception .[ 13] birth defects .
The following diseases are some of those related to genes on chromosome 1 (which contains the most knowngenetic diseases of any human chromosome):
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,
[ 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
^a b "Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene" .NCBI . CCDS Release 20 forHomo sapiens . 2016-09-08. Retrieved2017-05-28 .^ 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 fromthe original on 2017-06-29. Retrieved2017-05-19 .^ "Chromosome 1: Chromosome summary - Homo sapiens" .Ensembl Release 88 . 2017-03-29. Retrieved2017-05-19 .^ "Human chromosome 1: entries, gene names and cross-references to MIM" .UniProt . 2018-02-28. Retrieved2018-03-16 .^ "Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene" .NCBI . 2017-05-19. Retrieved2017-05-20 .^ "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. Retrieved2017-05-20 .^ "Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene" .NCBI . 2017-05-19. Retrieved2017-05-20 .^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 articlelocus . ^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 byG banding , generallyAT-rich and gene poor;gneg : Region which is negatively stained by G banding, generallyCG-rich and gene rich;acen Centromere .var : Variable region;stalk : Stalk.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 .
Basic Types Processes Structures
See also
