Nullisomic deletion of the mcf.2 transforming gene in two haemophilia B patients.

EMBO J. 1988 September; 7(9): 2795–2799.

PMCID: PMC457070

D S Anson, D J Blake, P R Winship, D Birnbaum, and G G Brownlee

Sir William Dunn School of Pathology, University of Oxford, UK.

This article has been cited by other articles in PMC.

Abstract

The mcf.2 transforming gene sequence has been located to the region between 29 and 61 kb 3' of the factor IX gene. Two unrelated haemophilia B patients who raise antibodies to infused factor IX ('inhibitors') have deletions in excess of 273 kb encompassing the factor IX and mcf.2 genes and a CG-rich island. We believe these patients show the first nullisomic deletion of a transforming gene to be reported. No clinical condition can be attributed to the loss of the mcf.2 gene.

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Anson, DS; Choo, KH; Rees, DJ; Giannelli, F; Gould, K; Huddleston, JA; Brownlee, GG. The gene structure of human anti-haemophilic factor IX. EMBO J. 1984 May;3(5):1053–1060. [PubMed]
Benton, WD; Davis, RW. Screening lambdagt recombinant clones by hybridization to single plaques in situ. Science. 1977 Apr 8;196(4286):180–182. [PubMed]
Bernardi, F; del Senno, L; Barbieri, R; Buzzoni, D; Gambari, R; Marchetti, G; Conconi, F; Panicucci, F; Positano, M; Pitruzzello, S. Gene deletion in an Italian haemophilia B subject. J Med Genet. 1985 Aug;22(4):305–307. [PubMed]
Bird, AP. CpG-rich islands and the function of DNA methylation. Nature. 1986 May 15;321(6067):209–213. [PubMed]
Chen, SH; Yoshitake, S; Chance, PF; Bray, GL; Thompson, AR; Scott, CR; Kurachi, K. An intragenic deletion of the factor IX gene in a family with hemophilia B. J Clin Invest. 1985 Dec;76(6):2161–2164. [PubMed]
Comings, DE. A general theory of carcinogenesis. Proc Natl Acad Sci U S A. 1973 Dec;70(12):3324–3328. [PubMed]
Fasano, O; Birnbaum, D; Edlund, L; Fogh, J; Wigler, M. New human transforming genes detected by a tumorigenicity assay. Mol Cell Biol. 1984 Sep;4(9):1695–1705. [PubMed]
Fischel-Ghodsian, N; Higgs, DR; Beyer, EC. Function of a new globin gene. Nature. 329(6138):397. [PubMed]
Friend, SH; Bernards, R; Rogelj, S; Weinberg, RA; Rapaport, JM; Albert, DM; Dryja, TP. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature. 1986 Oct 16;323(6089):643–646. [PubMed]
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]
Fuhrman, SA; Deininger, PL; LaPorte, P; Friedmann, T; Geiduschek, EP. Analysis of transcription of the human Alu family ubiquitous repeating element by eukaryotic RNA polymerase III. Nucleic Acids Res. 1981 Dec 11;9(23):6439–6456. [PubMed]
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. 303(5913):181–182. [PubMed]
Goss, SJ; Harris, H. Gene transfer by means of cell fusion I. Statistical mapping of the human X-chromosome by analysis of radiation-induced gene segregation. J Cell Sci. 1977 Jun;25:17–37. [PubMed]
Grosveld, FG; Dahl, HH; de Boer, E; Flavell, RA. Isolation of beta-globin-related genes from a human cosmid library. Gene. 1981 Apr;13(3):227–237. [PubMed]
Hassan, HJ; Leonardi, A; Guerriero, R; Chelucci, C; Cianetti, L; Ciavarella, N; Ranieri, P; Pilolli, D; Peschle, C. Hemophilia B with inhibitor: molecular analysis of the subtotal deletion of the factor IX gene. Blood. 1985 Sep;66(3):728–730. [PubMed]
Ish-Horowicz, D; Burke, JF. Rapid and efficient cosmid cloning. Nucleic Acids Res. 1981 Jul 10;9(13):2989–2998. [PubMed]
Knott, V; Rees, DJ; Cheng, Z; Brownlee, GG. Randomly picked cosmid clones overlap the pyrB and oriC gap in the physical map of the E. coli chromosome. Nucleic Acids Res. 1988 Mar 25;16(6):2601–2612. [PubMed]
Kunkel, LM; Smith, KD; Boyer, SH; Borgaonkar, DS; Wachtel, SS; Miller, OJ; Breg, WR; Jones, HW, Jr; Rary, JM. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A. 1977 Mar;74(3):1245–1249. [PubMed]
Maniatis, T; Hardison, RC; Lacy, E; Lauer, J; O'Connell, C; Quon, D; Sim, GK; Efstratiadis, A. The isolation of structural genes from libraries of eucaryotic DNA. Cell. 1978 Oct;15(2):687–701. [PubMed]
Maxam, AM; Gilbert, W. Sequencing end-labeled DNA with base-specific chemical cleavages. Methods Enzymol. 1980;65(1):499–560. [PubMed]
Messing, J; Vieira, J. A new pair of M13 vectors for selecting either DNA strand of double-digest restriction fragments. Gene. 1982 Oct;19(3):269–276. [PubMed]
Nguyen, C; Pontarotti, P; Birnbaum, D; Chimini, G; Rey, JA; Mattei, JF; Jordan, BR. Large scale physical mapping in the q27 region of the human X chromosome: the coagulation factor IX gene and the mcf.2 transforming sequence are separated by at most 270 kilobase pairs and are surrounded by several 'HTF islands'. EMBO J. 1987 Nov;6(11):3285–3289. [PubMed]
Noguchi, T; Mattei, MG; Oberlè, I; Planche, J; Imbert, J; Pelassy, C; Birg, F; Birnbaum, D. Localization of the mcf.2 transforming sequence to the X chromosome. EMBO J. 1987 May;6(5):1301–1307. [PubMed]
Nordenskjöld, M; Lundberg, C. Recessive cancer genes and chromosomal mechanisms in tumorigenesis. Ann Clin Res. 1986;18(5-6):307–313. [PubMed]
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]
Sanger, F; Nicklen, S; Coulson, AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A. 1977 Dec;74(12):5463–5467. [PubMed]
Theillet, C; Lidereau, R; Escot, C; Hutzell, P; Brunet, M; Gest, J; Schlom, J; Callahan, R. Loss of a c-H-ras-1 allele and aggressive human primary breast carcinomas. Cancer Res. 1986 Sep;46(9):4776–4781. [PubMed]
Wyman, AR; Wolfe, LB; Botstein, D. Propagation of some human DNA sequences in bacteriophage lambda vectors requires mutant Escherichia coli hosts. Proc Natl Acad Sci U S A. 1985 May;82(9):2880–2884. [PubMed]
Yokota, J; Tsunetsugu-Yokota, Y; Battifora, H; Le Fevre, C; Cline, MJ. Alterations of myc, myb, and rasHa proto-oncogenes in cancers are frequent and show clinical correlation. Science. 1986 Jan 17;231(4735):261–265. [PubMed]