Estimation of the age of the ancestral arginine3500 → glutamine mutation in human ApoB-100

Genomics

Volumn 45, Issue 1, 1997, Pages 78-87

  Myant, Nicolas B ^a   Forbes, Simon A ^a   Day, Ian N M ^b   Gallagher, John ^c  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^c MEDICAL RESEARCH COUNCIL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B100; ARGININE; GLUTAMINE;

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 2; CHROMOSOME MARKER; CLINICAL ARTICLE; CONTROLLED STUDY; EUROPE; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MUTATION; GENETIC DISTANCE; GENETIC POLYMORPHISM; GENETIC RECOMBINATION; HAPLOTYPE; HUMAN; MALE; PRIORITY JOURNAL;

EID: 0031259738     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1997.4898     Document Type: Article

References (56)

1. Avoustin, P., Mostachi, H., Perret, B., Cambou, J. P., Cambien, F., and de Preval, C. (1992). A very conservative region of apoB-100 in the putative binding region to the LDL receptor in the Toulouse population. Hum. Genet. 90: 460-463.
2. Bersot, T. P., Russell, S. J., Thatcher, S. R., Pomernacki, N., Mahley, R. W., Weisgraber, K. H., Innerarity, T. L., and Fox, C. S. (1993). A unique haplotype of the apolipoprotein B-100 allele associated with familial defective apolipoprotein B-100 in a Chinese man discovered during a study of the prevalence of this disorder. J. Lipid Res. 34: 1149-1154.
3. Brousseau, T., Arveiler, D., Cambou, J-P., Evans, A. E., Luc, G., Fruchart, J-C., Cambien, F., and Amouyel, P. (1995). Familial defective apolipoprotein B-100 and myocardial infarction: The EC-TIM study. Atherosclerosis 116: 269-271.
4. Buetow, K. H., Weber, J. L., Ludwigsen, S., Scherpbier-Heddema, T., Duyk, G. M., Sheffield, V. C., and Wang, Z., and Murray, J. C. (1994). Integrated human genome-wide maps constructed using the CEPH reference panel. Nature Genet. 6: 391-393.
5. Burke, D. T., Carle, G. F., and Olson, M. V. (1987). Cloning of large segments of exogenous DNA by means of artificial chromosome vectors. Science 236: 806-811.
6. Cavalli-Sforza, L. L., and Bodmer, W. F. (1971). "The Genetics of Human Populations," pp. 483-488, Freeman, San Francisco.
7. Cavalli-Sforza, L. L., Menozzi, P., and Piazza, A. (1994). "The History and Geography of Human Genes," Princeton Univ. Press, Princeton, NJ.
8. Corsini, A., Fantappie, S., Granata, A., Bernini, F., Catapano, A. L., Fumagallim, R., Romano, L., and Romano, C. (1989). Binding-defective low-density lipoproteins in a family with hypercholesterolaemia. Lancet I: 623.
9. Defesche, J. C., Pricker, K. L., Hayden, M. R., van der Ende, B. E., and Kastelein, J. J. P. (1993). Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia. Arch. Intern. Med. 153: 2349-2356.
10. Doggett, N. A., Goodwin, L. A., Tesmer, J. G., Meincke, L. J., Bruce, D. C., Clark, L. M., Altherr, M. R., Ford, A. A., Chi, H. C., Marrone, B. L., Longmire, J. L., Lane, S. A., Whitmore, S. A., Lowenstein, M. G., Sutherland, R. D., Mundt, M. O., Knill, E. H., Bruno, W. J., Macken, C. A., Torney, D. C., Wu, J-R., Griffith, J., Sutherland, G. R., Deaven, L. L., Callen, D. F., and Moyzis, R. K. (1995). An integrated physical map of human chromosome 16. Nature 377: 335-339.
11. Eggertsen, G., Eriksson, M., Wiklund, O., Iitia, A., Olofsson, S-O., Angelin, B., and Berglund, L. (1994). Time-resolved fluorometry in the genetic diagnosis of familial defective apolipoprotein B-100 J. Lipid Res. 35: 1505-1508.
12. Encyclopaedia Britannica. (1974). "Encyclopaedia Britannica," 15th ed., Vol. 9, p. 170; Vol. 16, p. 304, Encyclopaedia Britannica, Chicago.
13. Encyclopaedia Britannica. (1974). "Encyclopaedia Britannica," 15th ed., Vol. 9, p. 170; Vol. 16, p. 304, Encyclopaedia Britannica, Chicago.
14. Feinberg, A. P., and Vogelstein, B. (1984). A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity. Anal. Biochem. 137: 266-267.
15. Friedl, W., Ludwig, E. H., Balestra, M. E., Arnold, K. S., Paulweber, B., Sandhofer, F., McCarthy, B. J., and Innerarity, T. L. (1991). Apolipoprotein B gene mutations in Austrian subjects with heart disease and their kindred. Arteriosclerosis 11: 371-378.
16. Friedlander, Y., Dann, E. J., and Leitersdorf, E. (1993). Absence of familial defective apolipoprotein B-100 in Israeli patients with dominantly inherited hypercholesterolemia and in offspring with parental history of myocardial infarction. Hum. Genet. 91: 299-300.
17. Gaffney, D., Reid, J. M., Cameron, I. M., Vass, K., Caslake, M. J., Shepherd, J., and Packard, C. J. (1995). Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia. Arterioscler. Thromb. 15: 1025-1029.
18. Gallagher, J. J., and Myant, N. B. (1995). The affinity of low-density lipoproteins and of very-low-density lipoprotein remnants for the low-density lipoprotein receptor in homozygous familial defective apolipoprotein B-100. Atherosclerosis 115: 263-272.
19. Gudnason, V., Sigurdsson, G., and Humphries, S. (1990). Use of the polymerase chain reaction to search for a mutation in the apolipoprotein B gene in the Icelandic population. Icelandic Med. J. 76: 431-436.
20. Hamalainen, T., Palotie, A., Alto-Setala, K., Kontula, K., and Tikkanen, M. J. (1990). Absence of familial defective apolipoprotein B-100 in Finnish patients with elevated serum cholesterol. Atherosclerosis 82: 177-184.
21. Hansen, P. S., Meinertz, H., Jensen, H. K., Fruergaard, P., Launbjerg, J., Klausen, I. C., Lemming, L., Gerdes, U., Gregersen, N., and Faergeman, O. (1994). Characteristics of 46 heterozygous carriers and 57 unaffected relatives in 5 Danish families with familial defective apolipoprotein B-100. Arterioscler. Thromb. 14: 207-213.
22. Horinek, A., Slezka, V., Sobra, J., and Ceska, R. (1995). DNA analysis in heterozygotes in familial hypercholesterolemia. Cas. Lek. Cesk. 134: 234-239.
23. Hosking, J. L., Bais, R., Roach, P. D., and Thomas, D. W. (1991). Hypercholesterolemia due to familial defective apolipoprotein B-100 in two Australian families. Med. J. Aust. 155: 572-573.
24. Huang, L. S., and Breslow, J. (1987). A unique AT-rich hypervariable minisatellite 3′ to the apoB gene defines a high information restriction fragment length polymorphism. J. Biol. Chem. 262: 8952-8955.
25. Innerarity, T. L., Mahley, R. W., Weisgraber, K. H., Bersot, T. P., Krauss, R. M., Vega, G. L., Grundy, S. M., Friedl, W., Davignon, J., and McCarthy, B. J. (1990). Familial defective apolipoprotein B-100: A mutation of apolipoprotein B that causes hypercholesterolemia. J. Lipid Res. 31: 1337-1349.
26. Innerarity, T. L., Weisgraber, K. H., Arnold, K. S., Mahley, R. W., Krauss, R. M., Vega, G. L., and Grundy, S. M. (1987). Familial defective apolipoprotein B-100: Low density lipoproteins with abnormal receptor binding. Proc. Natl. Acad. Sci. USA 84: 6919-6923.
27. Kotze, M. J., Peeters, A. V., Langenhoven, E., Wauters, J. G., and van Gaal, L. F. (1994). Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics. Atherosclerosis 111: 217-225.
28. Kunkel, L. M., Smith, K. D., Boyer, S. H., Borgaonkar, D. S., Wachtel, S. S., Miller, O. J., Breg, W. R., Jones, H. W., Jr., and Rary, J. M. (1977). Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc. Natl. Acad. Sci. USA 74: 1245-1249.
29. Li, W-H., and Grauer, D. (1991). "Fundamentals of Molecular Evolution," Sinauer, Sunderland, MA.
30. Ludwig, E. H., Friedl, W., and McCarthy, B. J. (1989). High-resolution analysis of a hypervariable region in the human apolipoprotein B gene. Am. J. Hum. Genet. 45: 458-464.
31. Ludwig, E. H., and McCarthy, B. J. (1990). Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100. Am. J. Hum. Genet. 47: 712-720.
32. Mahley, R. W., Palaoglu, K. E., Atak, Z., Dawson-Pepin, J., Langlois, A-M., Cheung, V., Onat, H., Fulks, P., Mahley, L. L., Vakar, F., Özbayrkçi, S., Gökdemir, O., and Winkler, W. (1995). Turkish heart study: Lipids, lipoproteins and apolipoproteins. J. Lipid Res. 36: 839-859.
33. Mamotte, C. D. S., and van Bockxmeer, F. M. (1993). A robust strategy for screening and confirmation of familial defective apolipoprotein B-100. Clin. Chem. 39: 118-121.
34. Miserez, A. R., Laager, R., Chiodetti, N., and Keller, U. (1994). High prevalence of familial defective apolipoprotein B-100 in Switzerland. J. Lipid Res. 35: 574-583.
35. Myant, N. B. (1993). Familial defective apolipoprotein B-100: A review, some comparisons with familial hypercholesterolaemia. Atherosclerosis 104: 1-18.
36. Myant, N. B., Gallagher, J. J., Knight, B. L., McCarthy, S. N., Frostegard, J., Nilsson, J., Hamsten, A., Talmud, P., and Humphries, S. E. (1991). Clinical signs of familial hypercholesterolemia in patients with familial defective apolipoprotein B-100 and normal low-density lipoprotein receptor function. Arterioscler. Thromb. 11: 691-703.
37. Nikonova, A. L., Pogoda, T. V., Metelskaya, V. A., Olferyev, A. M., Usievich, V. M., Limborksa, S. A., Oganov, R. G., and Perova, N. V. (1994). Hereditary defect of apoB as a cause of hypercholesterolemia in a patient with coronary heart disease. Kardiologiya N2: 98-103.
38. Nohara, A., Yagi, K., Inazu, A., Kajinami, K., Koijumi, J., and Mabuchi, H. (1995). Absence of familial defective apolipoprotein B-100 in Japanese patients with familial hypercholesterolaemia. Lancet 345: 1438.
39. Norio, R., Nevanlinna, H. R., and Perheentupa, J. (1973). Hereditary diseases in Finland: Rare flora in rare soil. Ann. Clin. Res. 5: 109-141.
40. Pullinger, C. R., Hennessy, L. K., Chatterton, J. E., Liu, W., Love, J. A., Mendel, C. M., Frost, P. H., Malloy, M. J., Schumaker, V. J., and Kane, J. P. (1995). Familial ligand-defective apolipoprotein B: Identification of a new mutation that decreases LDL receptor binding affinity. J. Clin. Invest. 95: 1225-1234.
41. Rauh, G., Schuster, H., Fischer, J., Keller, C., Wolfram, G., and Zöllner, N. (1991). Familial defective apolipoprotein B-100: Haplotype analysis of the arginine(3500) → glutamine mutation. Atherosclerosis 88: 219-226.
42. Rauh, G., Schuster, H., Schewe, K., Stratmann, G., Keller, C., Wolfram, G., and Zöllner, N. (1993). Independent mutation of arginine(3500) → glutamine associated with familial defective apolipoprotein B-100. J. Lipid Res. 34: 799-805.
43. Renfrew, C. (1990). "Before Civilization: The Radiocarbon Revolution and Prehistoric Europe," pp. 69-71, Penguin Books, London.
44. Renges, H-H., Peacock, R., Dunning, A. M., Talmud, P., and Humphries, S. E. (1992). Genetic relationship between the 3′-VNTR and diallelic apolipoprotein B gene polymorphisms: Haplotype analysis in individuals of European and South Asian origin. Ann. Hum. Genet. 56: 11-33.
45. Rubinsztein, D. C., Raal, F. J., Seftel, H. C., Pilcher, G., Coetzee, G. A., and van der Westhuyzen, D. R. (1993). Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apoB-100. Arterioscler. Thromb. 13: 1076-1081.
46. Rust, S., Funke, H., and Assmann, G. (1992). Analysis of pooled samples from nearly 10,000 individuals with mutagenically separated PCR (MS-PCR) shows a significant over-representation of familial defective apoB-100 in coronary artery disease patients. Circulation 86 Suppl I: 1-420.
47. Schuster, H., Rauh, G., Kormann, B., Hepp, T., Humphries, S., Keller, C., Wolfram, G., and Zollner, N. (1990). Familial defective apolipoprotein B-100: Comparison with familial hypercholesterolemia in 18 cases detected in Munich. Arteriosclerosis 10: 577-581.
48. Schwartz, E. I., Shevtsov, S. P., Kuchinski, A. P., Kovalev, Yu. P., Plutalov, O. V., and Berlin, Yu. A. (1991). Approach to identification of a point mutation in apoB 100 gene by means of a PCR-mediated site-directed mutagenesis. Nucleic Acids Res. 19: 3752.
49. Soria, L. F., Ludwig, E. H., Clarke, H. R. G., Vega, G. L., Grundy, S. M., and McCarthy, B. J. (1989). Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. Proc. Natl. Acad. Sci. USA 86: 587-591.
50. Spurr, N. K., Barton, H., Bashir, R., Bryson, G. M., Bushby, K., Cox, S., Gringrich, J. C., Hentati, A., Hildebrandt, F., Kao, F. T., Kruse, T., Lai, E., Liu, J., Menke, M., Naylor, S., Nicklin, M., Read, A., Reiner, O., Rocchi, M., and Summar, M. (1994). Report of the third international workshop on human chromosome 2 mapping 1994. Cytogenet. Cell Genet. 67: 216-223.
51. Talmud, P., Tybjaerg-Hansen, L., Bhatnagar, D., Mbewu, A., Miller, J. P., Durrington, P., and Humphries, S. E. (1991). Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia. Atherosclerosis 89: 137-141.
52. Tybjaerg-Hansen, A., Gallagher, J., Vincent, J., Talmud, P., Dunning, A. M., Seed, M., Hamsten, A., Humphries, S. E., and Myant, N. B. (1990). Familial defective apolipoprotein B-100: Detection in the United Kingdom and Scandinavia, and clinical characteristics often cases. Atherosclerosis 80: 235-242.
53. Tybjaerg-Hansen, A., and Humphries, S. E. (1992). Familial defective apolipoprotein B-100: A single mutation that causes hypercholesterolemia and premature coronary artery disease. Atherosclerosis 96: 91-107.
54. Vogel, F., and Motulsky, A. G. (1986). "Human Genetics: Problems and Approaches," 2nd ed., pp. 506-511, Springer-Verlag, Berlin.
55. Weber, J. L., and Wong, C. (1993). Mutation of human short tandem repeats. Hum. Mol. Genet. 2: 1123-1128.
56. Weiss, K. M. (1993). "Genetic Variation and Human Disease," Chap. 9, Cambridge Univ. Press, Cambridge, UK.