The DNA sequence and analysis of human chromosome 6.
[No authors listed]
摘要
Chromosome 6 is a metacentric chromosome that constitutes about 6% of the human genome. The finished sequence comprises 166,880,988 base pairs, representing the largest chromosome sequenced so far. The entire sequence has been subjected to high-quality manual annotation, resulting in the evidence-supported identification of 1,557 genes and 633 pseudogenes. Here we report that at least 96% of the protein-coding genes have been identified, as assessed by multi-species comparative sequence analysis, and provide evidence for the presence of further, otherwise unsupported exons/genes. Among these are genes directly implicated in cancer, schizophrenia, autoimmunity and many other diseases. Chromosome 6 harbours the largest transfer RNA gene cluster in the genome; we show that this cluster co-localizes with a region of high transcriptional activity. Within the essential immune loci of the major histocompatibility complex, we find HLA-B to be the most polymorphic gene on chromosome 6 and in the human genome.
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基因功能
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基因
GJE1, SMIM11P1, TRAPPC3L, C6orf99, TOMM6, HSPD1P16, MTRNR2L9, RANBP9, LOC100505530, KIF25-AS1, MICA, UST, LOC100996634, MEI4, SLC17A2, CDKN1A, PRSS16, CRISP3, BTN3A3, BTN2A2, ECI2, HMGN4, SYNCRIP, UBD, AGPAT1, SLC35A1, SCGN, DNPH1, C6orf10, FARS2, FUT9, TBC1D7-LOC100130357, TRAF3IP2, HBS1L, FRS3, PDE10A, SMPDL3A, APOBEC2, PNRC1, RAB32, TRIM31, KATNA1, FGFR1OP, BTN3A2, BTN3A1, BTN2A1, NUDT3, MRAP2, RWDD2A, IL17F, MTFR2, STK38, SFT2D1, EFHC1, ZBED9, MB21D1, KLHDC3, NUS1, GINM1, IL22RA2, MAS1L, TAGAP, CLIC1, CCR6, CNR1, COL9A1, COL10A1, COL11A2, COL19A1, COX7A2, TAAR1, STXBP5, NCOA7, PACRG, B3GAT2, SDHAF4, CD109, RAET1E, C6orf141, HUS1B, ATF6B, NRSN1, MAPK14, CSNK2B, CTGF, ZC2HC1B, SNRNP48, MBOAT1, RNF217, NKAIN2, CFAP206, LINC01600, BVES-AS1, CYP21A1P, DAXX, CRISP1, LCA5, OLIG3, TXLNB, C6orf118, DNAH8, AGER, DXO, DSP, E2F3, EDN1, AIF1, SERPINB1, AIM1, EPHA7, C6orf163, EYA4, ESR1, FABP7, FANCE, CCDC162P, AK9, NT5DC1, FAM26D, ZUFSP, FAM162B, TBC1D32, GSTA5, OPN5, ADGRF4, TDRD6, RSPH9, LRRC73, OARD1, KIF6, TMEM217, FGD2, C6orf89, ARMC12, ZBTB12, C6orf136, HIST1H2AA, KDM1B, RBM24, PHACTR1, GPRC6A, ADGRF2, KCTD20, SCUBE3, ZSCAN23, NKAPL, FAM217A, SCAF8, ICK, ANKRD6, FOXC1, CMTR1, FOXO3, CDK19, TAB2, ABCF1, MDN1, TSPYL4, ANKS1A, UBR2, SYNE1, UFL1, SIRT5, PHF3, HEY2, DAAM2, GLTSCR1L, DDAH2, HEBP2, MTCH1, ZNF318, FUCA2, FYN, TMEM244, MMS22L, FAM26E, MCM9, GABBR1, RNF144B, HIST1H2BA, GABRR1, GABRR2, SPDEF, MTO1, YIPF3, CCDC28A, NCR3, PNISR, IBTK, UPF2, ZNF451, SENP6, OR2B6, AMD1, FBXL4, FBXO9, FBXO5, OR12D2, OR11A1, RGS17, OR2W1, ADGRF1, OR2J2, OR2H1, FILIP1, BRPF3, TNFRSF21, GCLC, GLO1, GLP1R, GMDS, GMPR, GPLD1, ZNF311, GPR6, DLL1, GPR31, PPIL6, DCBLD1, CAGE1, RPL7L1, RNF5P1, GPX5, TMEM14A, NDUFAF4, GRM1, C6orf15, GRM4, GSTA2, GSTA3, GSTA4, ABT1, GUCA1A, GUCA1B, DSE, PRICKLE4, HIST1H1D, HIST1H1E, HIST1H1B, HIST1H2AE, HIST1H2BD, HDAC2, ZNRD1, HIVEP2, HLA-A, HLA-DOA, HLA-DQA1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB3, HLA-DRB4, HLA-F, TAAR6, HSF2, HSPA1A, HSPA1B, HSPA1L, HSP90AB1, HTR1B, HTR1E, ID4, ZC3H12D, MYLK4, TREML1, IFNGR1, EYS, TUBB2B, SLC35B2, IGF2R, C6orf58, KAAG1, IMPG1, IRF4, JARID2, GJB7, NHLRC1, ARG1, KIFC1, KIF25, ZKSCAN4, GUSBP2, SUMO4, SOGA3, C6orf222, GFRAL, C6orf183, IYD, LAMA4, ACAT2, MCCD1, SAPCD1, RAB44, CRIP3, KLHL31, LINC00242, GTF2H5, ERVFRD-1, MARCKS, MAK, MAN1A1, MAS1, MCM3, MDFI, ME1, MEA1, MAP3K5, MLLT4, MOCS1, MOG, FAM26F, OR2B3, OR2J3, OR14J1, OR10C1, MSH5, MUT, MYO6, RPL10A, NFKBIL1, NFYA, CLDN20, NOX3, PARK2, PBX2, SLC35B3, GMNN, MRPL2, TFB1M, C6orf203, NRN1, PDCD2, CDC40, RWDD1, AIG1, NOL7, SNX9, FAM8A1, UBE2J1, DCDC2, ETV7, LGSN, TDP2, CUTA, PPIL1, ENPP1, ENPP3, HECA, RAB23, PGC, PGK2, PGM3, PHF1, PLG, CLIC5, ATP6V1G2, IL20RA, TREM1, POLH, UNC93A, GFOD1, POU3F2, PPARD, GTPBP2, BTN2A3P, AHI1, UHRF1BP1, PAK1IP1, RMND1, AKIRIN2, PPP1R10, CENPQ, MRPS18A, MRPS10, PHF10, VNN3, TMEM63B, PRIM2, FAM46A, TBC1D22B, PKIB, TMEM30A, EXOC2, SAYSD1, LMBRD1, TRERF1, ACOT13, ECHDC1, APOM, MAPK13, KCNQ5, PSMB1, AGPAT4, WRNIP1, DUSP22, PSMB8, PSMB9, RARS2, PDSS2, GOPC, LYRM4, SMIM8, MRS2, PLEKHG1, ARID1B, LRFN2, AARS2, XPO5, SERINC1, HACE1, TMEM181, ZBTB2, CPNE5, BAK1, C6orf47, RRAGD, PRDM13, PBOV1, REV3L, TRIM27, RING1, BRD2, BACH2, ELOVL5, RNF5, TRMT11, SMAP1, ZFAND3, ROS1, RPS6KA2, RPS18, RXRB, CFB, VPS52, ATXN1, BLOC1S5, GPSM3, KIF13A, ERVK-6, PERP, SMOC2, POPDC3, ZSCAN31, SGK1, C6orf106, MICAL1, SIM1, MRPL14, BMP5, BMP6, OR2B8P, DLK2, SOD2, SOX4, DST, BPHL, SRPK1, SSR1, ELOVL4, T, TAF11, MAP3K7, TAPBP, TBCC, TBP, TCF19, TCF21, TCP1, TCP10, BTN1A1, PPP1R11, TEAD3, TFAP2B, NR2E1, TNFAIP3, TPBG, TPMT, CRISP2, C4A, C4B, TUBB2A, VARS, VEGFA, EZR, VIP, ZNF165, ZKSCAN8, ZSCAN9, DDR1, PTP4A1, DEK, ALDH5A1, PRRC2A, BAG6, GPANK1, DDX39B, ABHD16A, SLC39A7, HSD17B8, OR2H2, NELFE, LST1, TFEB, OR2A4, ARMT1, ZDHHC14, MANEA, ADGB, TREML2, LINC00472, FRMD1, AGPAT4-IT1, LINC00574, CCDC170, ZKSCAN3, ZSCAN16, RNF39, SLC44A4, VWA7, C6orf25, PRR3, EGFL8, GPR63, TXNDC5, C6orf62, OR5V1, OR2B2, PPP1R14C, OR12D3, SPACA1, RNF146, HIST1H4I, HIST1H2AK, HIST1H2AM, HIST1H2BG, HIST1H2BL, HIST1H2BN, HIST1H2BM, HIST1H2BE, SF3B5, HIST1H2BH, HIST1H2BO, TAAR8, HIST1H3B, SH3BGRL2, KCNK16, DTNBP1, FBXO30, STX7, CMAHP, UQCC2, L3MBTL3, MCHR2, FAXC, TTBK1, RTN4IP1, ADTRP, RSPO3, LRP11, SERAC1, USP45, PEX3, GCM1, HIST1H2AH, HIST1H2BK, DDO, PPIL4, PAQR8, RUNX2, RNASET2, B3GALT4, SNX3, RIPK1, CD164, SYNGAP1, WISP3, STK19, SYNJ2, RRP36, VNN2, VNN1, CCNC, CCND3, HIST1H2BJ, KCNK17, ABCC10, KLC4, RNF8, TAAR5, MLIP, MAP7, TBX18, GCM2, WDR46, ZBTB22, TAAR2, HMGN3, TJAP1, ARHGAP18, PPT2, NCR2, MED23, QKI, LY86, FHL5, AKAP7, ATG5, MED20, TBPL1, EEF1E1, BAG2, POLR1C, MAD2L1BP, MDC1, TRAM2, KIAA0408, ZSCAN12, BCLAF1, CUL7, ZBTB24, KIAA0319, CDC5L, SNAP91, FIG4
原始数据
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文献解读
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