The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect

Proceedings of the National Academy of Sciences of the United States of America

Volumn 99, Issue 23, 2002, Pages 14952-14957

  Tiemann Boege, Irene ^a   Navidi, William ^b   Grewal, Raji ^c   Cohn, Dan ^d   Eskenazi, Brenda ^e   Wyrobek, Andrew J ^f   Arnheim, Norman ^a  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b NSF Engineering Research Center for Reinventing the Nation s Urban Water Infrastructure   (United States)

^c New Jersey Neuroscience Institute   (United States)

^d BURNS AND ALLEN RESEARCH INSTITUTE   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f LAWRENCE LIVERMORE NATIONAL LABORATORY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACHONDROPLASIA; ADOLESCENT; ADULT; AGE; AGED; ARTICLE; CONTROLLED STUDY; DNA REPAIR; GERM LINE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MUTATION RATE; PRIORITY JOURNAL; SPERMATOZOON;

ACHONDROPLASIA; ADOLESCENT; ADULT; AGE FACTORS; AGED; DNA; GENOMIC IMPRINTING; HUMANS; MALE; MIDDLE AGED; MUTATION; PATERNAL AGE; POLYMERASE CHAIN REACTION; REPRODUCIBILITY OF RESULTS; SPERMATOZOA;

EID: 0037069429     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.232568699     Document Type: Article

References (42)

1. Vogel, F. & Rathenberg, R. (1975) Adv. Hum. Genet. 5, 223-318.
2. Vogel, F. & Motulsky, A. G. (1997) Human Genetics: Problems and Approaches (Springer, Berlin).
3. Bohossian, H. B., Skaletsky, H. & Page, D. C. (2000) Nature 406, 622-625.
4. Crow, J. F. (2000) Nat. Rev. Genet. 1, 40-47.
5. Huttley, G. A., Jakobsen, I. B., Wilson, S. R. & Easteal, S. (2000) Mol. Biol. Evol. 17, 929-937.
6. Hurst, L. D. & Ellegren, H. (1998) Trends Genet. 14, 446-452.
7. Risch, N., Reich, E. W., Wishnick, M. M. & McCarthy, J. G. (1987) Am. J. Hum. Genet. 41, 218-248.
8. Makova, K. D. & Li, W. H. (2002) Nature 416, 624-626.
9. Murdoch, J. L., Walker, B. A., Hall, J. G., Abbey, H., Smith, K. K. & McKusick, V. A. (1970) Ann. Hum. Genet. 33, 227-244.
10. Orioli, I. M., Castilla, E. E., Scarano, G. & Mastroiacovo, P. (1995) Am. J. Med. Genet. 59, 209-217.
11. Stevenson, A. C. (1957) Am. J. Hum. Genet. 9, 81-91.
12. Walter, C. A., Intano, G. W., McCarrey, J. R., McMahan, C. A. & Walter, R. B. (1998) Proc. Natl. Acad. Sci. USA 95, 10015-10019.
13. Rousseau, F., Bonaventure, J., Legeai-Mallet, L., Pelet, A., Rozet, J. M., Maroteaux, P., Le Merrer, M. & Munnich, A. (1996) Horm. Res. 45, 108-110.
14. Bellus, G. A., Hefferon, T. W., Ortiz de Luna, R. I., Hecht, J. T., Horton, W. A., Machado, M., Kaitila, I., McIntosh, I. & Francomano, C. A. (1995) Am. J. Hum. Genet. 56, 368-373.
15. Shiang, R., Thompson, L. M., Zhu, Y. Z., Church, D. M., Fielder, T. J., Bocian, M., Winokur, S. T. & Wasmuth, J. J. (1994) Cell 78, 335-342.
16. Friedberg, E., Walker, G. & Siede, W. (1995) DNA Repair and Mutagenesis (Am. Soc. Microbiol. Press, Washington, DC).
17. Wilkin, D. J., Szabo, J. K., Cameron, R., Henderson, S., Bellus, G. A., Mack, M. L., Kaitila, I., Loughlin, J., Munnich, A., Sykes, B., et al. (1998) Am. J. Hum. Genet. 63, 711-716.
18. Camera, G. & Mastroiacovo, P. (1988) Basic Life Sci. 48, 11-15.
19. Martinez-Frias, M. L., Bermejo, E., Cereijo, A., Sanchez, M., Lopez, M. & Gonzalo, C. (1991) Am. J. Med. Genet. 38, 626-629.
20. Stoll, C., Dott, B., Roth, M. P. & Alembik, Y. (1989) Clin. Genet. 35, 88-92.
21. Higuchi, R. & Watson, R. (1999) in PCR Methods Manual, eds. Innis, M. A., Gelfand, D. H. & Sninsky, J. J. (Academic, San Diego), pp. 263-284.
22. Germer, S., Holland, M. J. & Higuchi, R. (2000) Genome Res. 10, 258-266.
23. Cupples, C. G. & Miller, J. H. (1989) Proc. Natl. Acad. Sci. USA 86, 5345-5349.
24. Barany, F. & Gelfand, D. H. (1991) Gene 109, 1-11.
25. Landegren, U., Kaiser, R., Sanders, J, & Hood, L. (1988) Science 241, 1077-1080.
26. Drost, J. B. & Lee, W. R. (1995) Environ. Mol. Mutagen. 25, 48-64.
27. Favor, J. (1999) Mutat. Res. 428, 227-236.
28. El-Maarri, O., Olek, A., Balaban, B., Montag, M., van der Ven, H., Urman, B., Olek, K., Caglayan, S. H., Walter, J. & Oldenburg, J. (1998) Am. J. Hum. Genet. 63, 1001-1008.
29. Patel, P. H., Kawate, H., Adman, E., Ashbach, M. & Loeb, L. A. (2001) J. Biol. Chem. 276, 5044-5051.
30. Stump, M. D., Cherry, J. L. & Weiss, R. B. (1999) Nucleic Acids Res. 27, 4642-4648.
31. Henderson, S., Sillence, D., Loughlin, J., Bennetts, B. & Sykes, B. (2000) J. Med. Genet. 37, 956-958.
32. Kannan, K. & Givol, D. (2000) IUBMB Life 49, 197-205.
33. Steger, K., Tetens, F., Seitz, J., Grothe, C. & Bergmann, M. (1998) Histochem. Cell Biol. 110, 57-62.
34. Cancilla, B., Davies, A., Ford-Perriss, M. & Risbridger, G. P. (2000) J. Endocrinol. 164, 149-159.
35. Jaiswal, B. & Eisenbach, M. (2002) in Fertilization, ed. Hardy, D. M. (Academic, San Diego), pp. 57-117.
36. Hermann, M., Untergasser, G., Rumpold, H. & Berger, P. (2000) Exp. Gerontol. 35, 1267-1279.
37. Moloney, D. M., Slaney, S. F., Oldridge, M., Wall, S. A., Sahlin, P., Stenman, G. & Wilkie, A. O. (1996) Nat. Genet. 13, 48-53.
38. Wilkie, A. O., Slaney, S. F., Oldridge, M., Poole, M. D., Ashworth, G. J., Hockley, A. D., Hayward, R. D., David, D. J., Pulleyn, L. J., Rutland, P., et al. (1995) Nat. Genet. 9, 165-172.
39. Erickson, J. D. & Cohen, M. M., Jr. (1974) Ann. Hum. Genet. 38, 89-96.
40. Nachman, M. W. & Crowell, S. L. (2000) Genetics 156, 297-304.
41. Wilkie, A. O. (1997) Hum. Mol. Genet. 6, 1647-1656.
42. Oldridge, M., Lunt, P. W., Zackai, E. H., McDonald-McGinn, D. M., Muenke, M., Moloney, D. M., Twigg, S. R., Heath, J. K., McDonald-McGinn, Howard, T. D., Hoganson, G et al. (1997) Hum. Mol. Genet. 6, 137-143.