The DNA sequence and biology of human chromosome 19.
[No authors listed]
摘要
Chromosome 19 has the highest gene density of all human chromosomes, more than double the genome-wide average. The large clustered gene families, corresponding high G + C content, CpG islands and density of repetitive DNA indicate a chromosome rich in biological and evolutionary significance. Here we describe 55.8 million base pairs of highly accurate finished sequence representing 99.9% of the euchromatin portion of the chromosome. Manual curation of gene loci reveals 1,461 protein-coding genes and 321 pseudogenes. Among these are genes directly implicated in mendelian disorders, including familial hypercholesterolaemia and insulin-resistant diabetes. Nearly one-quarter of these genes belong to tandemly arranged families, encompassing more than 25% of the chromosome. Comparative analyses show a fascinating picture of conservation and divergence, revealing large blocks of gene orthology with rodents, scattered regions with more recent gene family expansions and deletions, and segments of coding and non-coding conservation with the distant fish species Takifugu.
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基因功能
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基因
ZGLP1, C19orf71, ZNF725P, TMEM221, SBK3, SNRPGP15, BSPH1, KIR2DS2, LOC100134317, ERICH4, MEF2B, ZNF729, ZNF861P, GFY, ZNF865, ERVS71-1, SUGP2, EBI3, AKAP8, HMG20B, KLF1, CERS1, CEACAM7, CEACAM8, UQCR11, KLK11, TMED1, UPK1A, KLK8, PNKP, COPE, CIRBP, TBCB, ARHGAP33, CKM, GRIN3B, CLC, CCDC159, MOB3A, GIPC3, OR1I1, HSPB6, COMP, COX6B1, COX7A1, CSNK1G2, NCAN, ZNRF4, ZNF98, DIRAS1, CYP2B6, AP2A1, ZNF550, ZNF780B, AES, DMWD, DNASE2, DNM2, DNMT1, ARID3A, EFNA2, NLRP7, ERF, FBL, ETV2, FARSA, MAST1, KDM4B, MAST3, CIC, CRTC1, PIP5K1C, ETHE1, BRD4, FPR1, FPR2, FKBP8, CBARP, C19orf38, SYCE2, SHC2, GAMT, KLK13, PRPF31, GAPDHS, OR7A17, GCDH, OR10H3, OR10H2, OR10H1, GDF1, OR7E24, OR7C2, OR7A5, OR7C1, AMH, GIPR, LYPD3, TJP3, SIGLEC9, GNA11, GNA15, GNG7, ZNF780A, KLK9, WDR62, TMEM150B, MBD3L5, GPR42, FFAR2, MKNK2, GPX4, UHRF1, GSK3A, ADGRE2, LOC339352, VSTM2B, RFPL4A, ZSCAN5B, NANOS3, PALM3, INSL3, JAK3, YJEFN3, KIR2DS1, KLK2, ZNF888, ZNF470, ZNF749, ONECUT3, OR7A10, OR7A2P, SIGLEC16, IGLON5, LYL1, MAG, MATK, BORCS8-MEF2B, KLK14, KLK12, GADD45B, NFIC, NFIX, NOTCH3, NOVA2, OAZ1, ATP4A, PAFAH1B3, PALM, GP6, ATP5D, FZR1, PDE4C, SIRT6, LSR, LSM7, PIK3R2, PLAUR, TM6SF2, MBD3, S1PR5, POLR2E, POLR2I, POLRMT, DDX49, PPP5C, TRMT1, BTBD2, LIN37, MYDGF, KLK10, PRTN3, AZU1, PSG1, PSG2, PSG3, PSG6, PSG7, PSG9, NCLN, SPPL2B, PSMC4, PSMD8, PTBP1, WDR18, ZNF471, SUGP1, HAMP, CYP4F11, PTPRS, PVR, ZNF71, CACTIN, RAB3A, RAD23A, UPF1, HCN2, RPL18A, RYR1, SAFB, CEACAM1, ERVK-6, SGTA, FAM138A, C19orf67, FAM90A27P, SBK2, ZSCAN5D, ZSCAN5CP, SLC1A6, SLC5A5, PSG10P, PHLDB3, MBD3L4, MBD3L3, SMARCA4, SNRPD2, AURKC, SULT2B1, BSG, TBXA2R, TCF3, THOP1, TLE2, OVOL3, CCDC61, SHISA7, ZNF814, UBA52, UBB, UQCRFS1, USF2, XRCC1, ZNF17, ZNF45, ZNF221, ZNF222, ZNF146, ZNF155, ZNF175, CACNA1A, ZNF180, ZNF208, ZNF225, ZNF226, ZNF112, ZNF229, ZNF230, TRAPPC6A, LILRA6, CALR, MADCAM1, SF3A2, ZNF239, ZNF93, CAPNS1, CAPS, DOHH, KISS1R, LMNB2, RANBP3, CYP4F2, RFXANK, SIGLEC5, FCGBP, AP3D1, PGLYRP1, ZNF682, TMEM259, DYRK1B, LPAR2, OLFM2, CD22, ARMC6, LRRC4B, ZNF264, HOMER3, APBA3, KLK4, SAFB2, KMT2B, ADGRE5
原始数据
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文献解读
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