The Paternal-Age Effect in Apert Syndrome Is Due, in Part, to the Increased Frequency of Mutations in Sperm

American Journal of Human Genetics

Volumn 73, Issue 4, 2003, Pages 939-947

  Glaser, Rivka L ^a   Broman, Karl W ^b   Schulman, Rebecca L ^a   Eskenazi, Brenda ^c   Wyrobek, Andrew J ^d   Jabs, Ethylin Wang ^a,e  

^a Ctr Craniofacial Devmt and Disord   (United States)

^b JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d LAWRENCE LIVERMORE NATIONAL LABORATORY   (United States)

^e JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FIBROBLAST GROWTH FACTOR RECEPTOR 2;

ACROCEPHALOSYNDACTYLY; ADULT; AGED; ALLELE; ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; GENE FREQUENCY; GENE MUTATION; GENETIC EPIDEMIOLOGY; HUMAN; INCIDENCE; MALE; MUTATION RATE; PATERNAL AGE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEMEN ANALYSIS; SPERMATOZOON COUNT;

EID: 0142059634     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/378419     Document Type: Article

References (24)

1. Blank CE (1960) Apert's syndrome (a type of acrocephalosyndactyly): observations on a British series of thirty-nine cases. Ann Hum Genet 24:151-164
2. Cohen MM Jr, Kreiborg S, Lammer EJ, Cordero JF, Mastroiacovo P, Erickson JD, Roeper P, Martinez-Frias ML (1992) Birth prevalence study of the Apert syndrome. Am J Med Genet 42:655-659
3. Crow JF (2000) The origins, patterns and implications of human spontaneous mutation. Nat Rev Genet 1:40-47
4. Eskenazi B, Wyrobek AJ, Sloter E, Kidd SA, Moore L, Young S, Moore D (2003) The association of age and semen quality in healthy men. Hum Reprod 18:447-454
5. Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall SA, Wilkie AOM, Jabs EW (2000) Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet 66:768-777
6. Hurst LD, Ellegren H (2002) Human genetics: mystery of the mutagenic male. Nature 420:365-366
7. Ibrahimi OA, Eliseenkova AV, Plotnikov AN, Yu K, Ornitz DM, Mohammadi M (2001) Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. Proc Natl Acad Sci USA 98:7182-7187
8. Ihaka R, Gentleman R (1996) R: a language for data analysis and graphics. J Comp Graph Stat 5:299-314
9. Intano GW, McMahan CA, McCarrey JR, Walter RB, McKenna AE, Matsumoto Y, MacInnes MA, Chen DJ, Walter CA (2002) Base excision repair is limited by different proteins in male germ cell nuclear extracts prepared from young and old mice. Mol Cell Biol 22:2410-2418
10. Manly BFJ (1997) Randomization, bootstrap, and Monte Carlo methods in biology, 2nd ed. CRC Press, Boca Raton, FL
11. McCullagh P, Neider JA (1989) Generalized linear models. 2nd ed. Springer, New York
12. Moloney DM, Slaney SF, Oldridge M, Wall SA, Sahlin P, Stenman G, Wilkie AOM (1996) Exclusive paternal origin of new mutations in Apert syndrome. Nat Genet 13:48-53
13. Murdock DG, Christacos NC, Wallace DC (2000) The age-related accumulation of a mitochondrial DNA control region mutation in muscle, but not in brain, detected by a sensitive PNA-directed PCR clamping based method. Nucleic Acids Res 28: 4350-4355
14. Orum H, Nielsen PE, Egholm M, Berg RH, Buchardt O, Stanley C (1993) Single base pair mutation analysis by PNA directed PCR clamping. Nucleic Acids Res 21:5332-5336
15. Park W-J, Theda C, Maestri NE, Meyers GA, Fryburg JS, Dufresne C, Cohen MM Jr, Jabs EW (1995) Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. Am J Hum Genet 57:321-328
16. Penrose LS (1955) Parental age and mutation. Lancet II:312-313
17. Risch R, Reich EW, Wishnick MW, McCarthy JG (1987) Spontaneous mutation and parental age in humans. Am J Hum Genet 41:218-248
18. Schuffenecker I, Ginet N, Goldgar D, Eng C, Chambe B, Boneu A, Houdent C, Pallo D, Schlumberger M, Thivolet C, Lenoir GM, Le Groupe d'Étude des Tumeurs a Calcitonine (1997) Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Am J Hum Genet 60:233-237
19. Tiemann-Boege I, Navidi W, Grewal R, Cohn D, Eskenazi B, Wyrobek AJ, Arnheim N (2002) The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect. Proc Natl Acad Sci USA 99:14952-14957
20. Vani RG, Rao MR (1997) Cloning of the cDNA encoding rat homologue of the mismatch repair gene MSH2 and its expression during spermatogenesis. Gene 185:19-26
21. Vogel F, Rathenberg R (1975) Spontaneous mutation in man. Adv Hum Genet 5:223-318
22. Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, Malcolm S, Winter RM, Reardon W (1995) Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 9:165-172
23. Wilkin DJ, Szabo JK, Cameron R, Henderson S, Bellus GA, Mack ML, Kaitila I, Loughlin J, Munnich A, Sykes B, Bonaventure J, Francomano CA (1998) Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. Am J Hum Genet 63:711-716
24. Yu K, Herr AB, Waksman G, Ornitz DM (2000) Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome. Proc Natl Acad Sci USA 97:14536-14541