The gene structure of human anti-haemophilic factor IX. (original) (raw)
- Journal List
- EMBO J
- v.3(5); 1984 May
- PMC557470
EMBO J. 1984 May; 3(5): 1053–1060.
Abstract
The mRNA sequence of the human intrinsic clotting factor IX (Christmas factor) has been completed and is 2802 residues long, including a 29 residue long 5' non-coding and a 1390 residue long 3' non-coding region, but excluding the poly(A) tail. The factor IX gene is approximately 34 kb long and we define, by the sequencing of 5280 residues, the presumed promoter region, all eight exons, and some intron and flanking sequence. Introns account for 92% of the gene length and the longest is estimated to be 10 100 residues. Exons conform roughly to previously designated protein regions, but the catalytic region of the protein is coded by two separate exons. This differs from the arrangement in the other characterized serine protease genes which are further subdivided in this region.
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- Baker CC, Herisse J, Courtois G, Galibert F, Ziff E. Messenger RNA for the Ad2 DNA binding protein: DNA sequences encoding the first leader and heterogenity at the mRNA 5' end. Cell. 1979 Oct;18(2):569–580. [PubMed] [Google Scholar]
- Baralle F. Complete nucleotide sequence of the 5' noncoding region of human alpha-and beta-globin mRNA. Cell. 1977 Dec;12(4):1085–1095. [PubMed] [Google Scholar]
- Baralle FE, Brownlee GG. AUG is the only recognisable signal sequence in the 5' non-coding regions of eukaryotic mRNA. Nature. 1978 Jul 6;274(5666):84–87. [PubMed] [Google Scholar]
- Benton WD, Davis RW. Screening lambdagt recombinant clones by hybridization to single plaques in situ. Science. 1977 Apr 8;196(4286):180–182. [PubMed] [Google Scholar]
- Berk AJ, Sharp PA. Sizing and mapping of early adenovirus mRNAs by gel electrophoresis of S1 endonuclease-digested hybrids. Cell. 1977 Nov;12(3):721–732. [PubMed] [Google Scholar]
- Boyd Y, Buckle VJ, Munro EA, Choo KH, Migeon BR, Craig IW. Assignment of the haemophilia B (factor IX) locus to the q26-qter region of the X chromosome. Ann Hum Genet. 1984 May;48(Pt 2):145–152. [PubMed] [Google Scholar]
- Breathnach R, Chambon P. Organization and expression of eucaryotic split genes coding for proteins. Annu Rev Biochem. 1981;50:349–383. [PubMed] [Google Scholar]
- Camerino G, Grzeschik KH, Jaye M, De La Salle H, Tolstoshev P, Lecocq JP, Heilig R, Mandel JL. Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus). Proc Natl Acad Sci U S A. 1984 Jan;81(2):498–502. [PMC free article] [PubMed] [Google Scholar]
- Campbell RD, Porter RR. Molecular cloning and characterization of the gene coding for human complement protein factor B. Proc Natl Acad Sci U S A. 1983 Jul;80(14):4464–4468. [PMC free article] [PubMed] [Google Scholar]
- Casadaban MJ, Cohen SN. Analysis of gene control signals by DNA fusion and cloning in Escherichia coli. J Mol Biol. 1980 Apr;138(2):179–207. [PubMed] [Google Scholar]
- Chirgwin JM, Przybyla AE, MacDonald RJ, Rutter WJ. Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry. 1979 Nov 27;18(24):5294–5299. [PubMed] [Google Scholar]
- Choo KH, Gould KG, Rees DJ, Brownlee GG. Molecular cloning of the gene for human anti-haemophilic factor IX. Nature. 1982 Sep 9;299(5879):178–180. [PubMed] [Google Scholar]
- Craik CS, Sprang S, Fletterick R, Rutter WJ. Intron-exon splice junctions map at protein surfaces. Nature. 1982 Sep 9;299(5879):180–182. [PubMed] [Google Scholar]
- Degen SJ, MacGillivray RT, Davie EW. Characterization of the complementary deoxyribonucleic acid and gene coding for human prothrombin. Biochemistry. 1983 Apr 26;22(9):2087–2097. [PubMed] [Google Scholar]
- Deininger PL, Jolly DJ, Rubin CM, Friedmann T, Schmid CW. Base sequence studies of 300 nucleotide renatured repeated human DNA clones. J Mol Biol. 1981 Sep 5;151(1):17–33. [PubMed] [Google Scholar]
- Drakenberg T, Fernlund P, Roepstorff P, Stenflo J. beta-Hydroxyaspartic acid in vitamin K-dependent protein C. Proc Natl Acad Sci U S A. 1983 Apr;80(7):1802–1806. [PMC free article] [PubMed] [Google Scholar]
- Frischauf AM, Lehrach H, Poustka A, Murray N. Lambda replacement vectors carrying polylinker sequences. J Mol Biol. 1983 Nov 15;170(4):827–842. [PubMed] [Google Scholar]
- Gergen JP, Stern RH, Wensink PC. Filter replicas and permanent collections of recombinant DNA plasmids. Nucleic Acids Res. 1979 Dec 20;7(8):2115–2136. [PMC free article] [PubMed] [Google Scholar]
- Giannelli F, Choo KH, Rees DJ, Boyd Y, Rizza CR, Brownlee GG. Gene deletions in patients with haemophilia B and anti-factor IX antibodies. Nature. 1983 May 12;303(5913):181–182. [PubMed] [Google Scholar]
- Giannelli F, Anson DS, Choo KH, Rees DJ, Winship PR, Ferrari N, Rizza CR, Brownlee GG. Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency). Lancet. 1984 Feb 4;1(8371):239–241. [PubMed] [Google Scholar]
- Grunstein M, Hogness DS. Colony hybridization: a method for the isolation of cloned DNAs that contain a specific gene. Proc Natl Acad Sci U S A. 1975 Oct;72(10):3961–3965. [PMC free article] [PubMed] [Google Scholar]
- Huddleston JA, Brownlee GG. The sequence of the nucleoprotein gene of human influenza A virus, strain A/NT/60/68. Nucleic Acids Res. 1982 Feb 11;10(3):1029–1038. [PMC free article] [PubMed] [Google Scholar]
- Jaye M, de la Salle H, Schamber F, Balland A, Kohli V, Findeli A, Tolstoshev P, Lecocq JP. Isolation of a human anti-haemophilic factor IX cDNA clone using a unique 52-base synthetic oligonucleotide probe deduced from the amino acid sequence of bovine factor IX. Nucleic Acids Res. 1983 Apr 25;11(8):2325–2335. [PMC free article] [PubMed] [Google Scholar]
- Jolly DJ, Esty AC, Bernard HU, Friedmann T. Isolation of a genomic clone partially encoding human hypoxanthine phosphoribosyltransferase. Proc Natl Acad Sci U S A. 1982 Aug;79(16):5038–5041. [PMC free article] [PubMed] [Google Scholar]
- Karn J, Brenner S, Barnett L, Cesareni G. Novel bacteriophage lambda cloning vector. Proc Natl Acad Sci U S A. 1980 Sep;77(9):5172–5176. [PMC free article] [PubMed] [Google Scholar]
- Katayama K, Ericsson LH, Enfield DL, Walsh KA, Neurath H, Davie EW, Titani K. Comparison of amino acid sequence of bovine coagulation Factor IX (Christmas Factor) with that of other vitamin K-dependent plasma proteins. Proc Natl Acad Sci U S A. 1979 Oct;76(10):4990–4994. [PMC free article] [PubMed] [Google Scholar]
- Kurachi K, Davie EW. Isolation and characterization of a cDNA coding for human factor IX. Proc Natl Acad Sci U S A. 1982 Nov;79(21):6461–6464. [PMC free article] [PubMed] [Google Scholar]
- Lawn RM, Fritsch EF, Parker RC, Blake G, Maniatis T. The isolation and characterization of linked delta- and beta-globin genes from a cloned library of human DNA. Cell. 1978 Dec;15(4):1157–1174. [PubMed] [Google Scholar]
- Mason AJ, Evans BA, Cox DR, Shine J, Richards RI. Structure of mouse kallikrein gene family suggests a role in specific processing of biologically active peptides. Nature. 1983 May 26;303(5915):300–307. [PubMed] [Google Scholar]
- Maxam AM, Gilbert W. Sequencing end-labeled DNA with base-specific chemical cleavages. Methods Enzymol. 1980;65(1):499–560. [PubMed] [Google Scholar]
- McKnight SL. Functional relationships between transcriptional control signals of the thymidine kinase gene of herpes simplex virus. Cell. 1982 Dec;31(2 Pt 1):355–365. [PubMed] [Google Scholar]
- Nunberg JH, Kaufman RJ, Chang AC, Cohen SN, Schimke RT. Structure and genomic organization of the mouse dihydrofolate reductase gene. Cell. 1980 Feb;19(2):355–364. [PubMed] [Google Scholar]
- Peake IR, Furlong BL, Bloom AL. Carrier detection by direct gene analysis in a family with haemophilia B (factor IX deficiency). Lancet. 1984 Feb 4;1(8371):242–243. [PubMed] [Google Scholar]
- Proudfoot NJ, Brownlee GG. 3' non-coding region sequences in eukaryotic messenger RNA. Nature. 1976 Sep 16;263(5574):211–214. [PubMed] [Google Scholar]
- Proudfoot NJ, Shander MH, Manley JL, Gefter ML, Maniatis T. Structure and in vitro transcription of human globin genes. Science. 1980 Sep 19;209(4463):1329–1336. [PubMed] [Google Scholar]
- Sollner-Webb B, Reeder RH. The nucleotide sequence of the initiation and termination sites for ribosomal RNA transcription in X. laevis. Cell. 1979 Oct;18(2):485–499. [PubMed] [Google Scholar]
- Staden R. A new computer method for the storage and manipulation of DNA gel reading data. Nucleic Acids Res. 1980 Aug 25;8(16):3673–3694. [PMC free article] [PubMed] [Google Scholar]
- Twigg AJ, Sherratt D. Trans-complementable copy-number mutants of plasmid ColE1. Nature. 1980 Jan 10;283(5743):216–218. [PubMed] [Google Scholar]
- Weaver RF, Weissmann C. Mapping of RNA by a modification of the Berk-Sharp procedure: the 5' termini of 15 S beta-globin mRNA precursor and mature 10 s beta-globin mRNA have identical map coordinates. Nucleic Acids Res. 1979 Nov 10;7(5):1175–1193. [PMC free article] [PubMed] [Google Scholar]
- Wickens MP, Buell GN, Schimke RT. Synthesis of double-stranded DNA complementary to lysozyme, ovomucoid, and ovalbumin mRNAs. Optimization for full length second strand synthesis by Escherichia coli DNA polymerase I. J Biol Chem. 1978 Apr 10;253(7):2483–2495. [PubMed] [Google Scholar]
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