Genomic changes in spermatozoa of the aging male

Advances in Experimental Medicine and Biology

Volumn 791, Issue , 2014, Pages 13-26

  Chianese, Chiara ^a   Brilli, Sara ^a   Krausz, Csilla ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Aging male; Genomic anomalies; Spermatozoa

Indexed keywords

DNA; FIBROBLAST GROWTH FACTOR RECEPTOR 2; FIBROBLAST GROWTH FACTOR RECEPTOR 3; REACTIVE OXYGEN METABOLITE;

ACHONDROPLASIA; ACROCEPHALOSYNDACTYLY; AGING; ANEUPLOIDY; ARTICLE; AUTISM; AUTOSOMAL DOMINANT INHERITANCE; CHILDHOOD CANCER; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; CROUZON SYNDROME; DNA DAMAGE; DOWN SYNDROME; FGFR GENE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE MUTATION; GENETIC DISORDER; GERM CELL; HUMAN; HYPOCHONDROPLASIA; MALE; MALE FERTILITY; NONHUMAN; PATERNAL AGE; PATERNITY; PREGNANCY; PRIORITY JOURNAL; PROGENY; REPRODUCTION; RISK ASSESSMENT; RISK FACTOR; SCHIZOPHRENIA; SPERMATOZOON; SPONTANEOUS ABORTION; STRUCTURAL CHROMOSOME ABERRATION; THANATOPHORIC DWARFISM;

AGING; ANIMALS; CHROMOSOME ABERRATIONS; DNA DAMAGE; FEMALE; GENOME, HUMAN; HUMANS; MALE; PATERNAL AGE; SPERMATOZOA;

EID: 84885002593     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4614-7783-9_2     Document Type: Article

References (63)

1. Aitken RJ, Krausz C (2001) Oxidative stress, DNA damage and the Y chromosome. Reproduction 122(4):497-506, Cambridge
2. Allen JW, Collins BW, Setzer RW (1996) Spermatid micronucleus analysis of aging effects in hamsters. Mutat Res 316(5-6):261-266
3. Arbeev KG, Hunt SC, Kimura M et al (2011) Leukocyte telomere length, breast cancer risk in the offspring: the relations with father's age at birth. Mech Ageing Dev 132(4):149-153
4. Asada H, Sueoka K, Hashiba T et al (2000) The effects of age and abnormal sperm count on the nondisjunction of spermatozoa. J Assist Reprod Genet 17(1):51-59
5. Aston KI, Hunt SC, Susser E et al (2012) Divergence of sperm and leukocyte age-dependent telomere dynamics: implications for male-driven evolution of telomere length in humans. Mol Hum Reprod 18(11):517-522
6. Baird DM, Britt-Compton B, Rowson J et al (2006) Telomere instability in the male germline. Hum Mol Genet 15(1):45-51
7. Baptista J, Mercer C, Prigmore E et al (2008) Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. Am J Hum Genet 82(4): 927-936
8. Belloc S, Benkhalifa M, Junca AM et al (2009) Paternal age and sperm DNA decay: discrepancy between chromomycin and aniline blue staining. Reprod Biomed Online 19(2):264-269
9. Bosch M, Rajmil O, Martínez-Pasarell O et al (2001) Linear increase of diploidy in human sperm with age: a four-colour FISH study. Eur J Hum Genet 9(7):533-538
10. Bosch M, Rajmil O, Egozcue J et al (2003) Linear increase of structural and numerical chromosome 9 abnormalities in human sperm regarding age. Eur J Hum Genet 11(10):754-759
11. Brandriff B, Gordon LA, Crawford BB et al (1988) Sperm chromosome analysis to assess potential germ cell mosaicism. Clin Genet 34(2):85-89
12. Crow JF (1999) Spontaneous mutation in man. Mutat Res 437(1):5-9
13. Crow JF (2000) The origins, patterns and implications of human spontaneous mutation. Nat Rev Genet 1(1):40-47
14. de la Rochebrochard E, Thonneau P (2002) Paternal age and maternal age are risk factors for miscarriage; results of a multicentre European study. Hum Reprod 17(6):1649-1656
15. De La Rochebrochard E, McElreavey K, Thonneau P (2003) Paternal age over 40 years: the "amber light" in the reproductive life of men? J Androl 24(4):459-465
16. De Meyer T, Rietzschel ER, De Buyzere ML et al (2007) Paternal age at birth is an important determinant of offspring telomere length. Hum Mol Genet 16(24):3097-3102
17. Eisenberg DT, Hayes MG, Kuzawa CW (2012) Delayed paternal age of reproduction in humans is associated with longer telomeres across two generations of descendants. Proc Natl Acad Sci USA 109(26):10251-10256
18. Estop AM, M'rquez C, Munné S et al (1995) An analysis of human sperm chromosome breakpoints. Am J Hum Genet 56(2):452-460
19. Fisch H (2009) Older men are having children, but the reality of a male biological clock makes this trend worrisome. Geriatrics 64(1):14-17
20. Goriely A, Wilkie AO (2012) Paternal age effect mutations and selfi sh spermatogonial selection: causes and consequences for human disease. Am J Hum Genet 90(2):175-200
21. Goriely A, McVean GA, van Pelt AM et al (2005) Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia. Proc Natl Acad Sci USA 102(17):6051-6056
22. Griffi n DK, Abruzzo MA, Millie EA et al (1995) Non-disjunction in human sperm: evidence for an effect of increasing paternal age. Hum Mol Genet 4(12):2227-2232
23. Guttenbach M, Köhn FM, Engel W et al (2000) Meiotic nondisjunction of chromosomes 1, 17, 18, X, and Y in men more than 80 years of age. Biol Reprod 63(6):1727-1729
24. Hassold TJ (1998) Nondisjunction in the human male. Curr Top Dev Biol 37:383-406
25. Hassold THP (2001) To err (meiotically) is human: the genesis of human aneuploidy. Nat Rev Genet 2(4):280-291
26. Kimura M, Cherkas LF, Kato BS et al (2008) Offspring's leukocyte telomere length, paternal age, and telomere elongation in sperm. PLoS Genet 4(2):e37
27. Kinakin B, Rademaker A, Martin R (1997) Paternal age effect of YY aneuploidy in human sperm, as assessed by fl uorescence in situ hybridization. Cytogenet Cell Genet 78(2):116-119
28. Kong A, Frigge ML, Masson G et al (2012) Rate of de novo mutations and the importance of father's age to disease risk. Nature 488(7412):471-475
29. Kurahashi H, Bolor H, Kato T et al (2009) Recent advance in our understanding of the molecular nature of chromosomal abnormalities. J Hum Genet 54(5):253-260
30. Lowe X, Collins B, Allen J et al (1995) Aneuploidies and micronuclei in the germ cells of male mice of advanced age. Mutat Res 338(1-6):59-76
31. Lowe X, Eskenazi B, Nelson DO et al (2001) Frequency of XY sperm increases with age in fathers of boys with Klinefelter syndrome. Am J Hum Genet 69(5):1046-1054
32. Martin RH, Rademaker AW (1987) The effect of age on the frequency of sperm chromosomal abnormalities in normal men. Am J Hum Genet 41(3):484-492
33. Martin RH, Spriggs E, Ko E et al (1995) The relationship between paternal age, sex ratios, and aneuploidy frequencies in human sperm, as assessed by multicolor FISH. Am J Hum Genet 57(6):1395-1399
34. Martin JA, Hamilton BE, Sutton PD et al (2007) Births: fi nal data for 2005. Natl Vital Stat Rep 56(6):1-103
35. McInnes B, Rademaker A, Greene CA et al (1998) Abnormalities for chromosomes 13 and 21 detected in spermatozoa from infertile men. Hum Reprod 13(1O):2787-2790
36. Ohye T, Inagaki H, Kogo H et al (2010) Paternal origin of the de novo constitutional t(11;22) (q23;q11). Eur J Hum Genet 18(7):783-787
37. Olson SD, Magenis RE (1988) Preferential parental origin of de novo structural chromosomal rearrangements. In: The cytogenetics of mammalian autosomal rearrangements. Alan R. Liss, New York, pp 583-599
38. Pacchierotti F, Andreozzi U, Russo A et al (1983) Reciprocal translocations in ageing mice and in mice with long-term low-level 239Pu contamination. Int J Radiat Biol Relat Stud Phys Chem Med 43(4):445-450
39. Plastira K, Msaouel P, Angelopoulou R et al (2007) The effects of age on DNA fragmentation, chromatin packaging and conventional semen parameters in spermatozoa of oligoasthenoteratozoospermic
40. patients. J Assist Reprod Genet 24(10):437-443
41. Robbins WA, Vine MF, Truong KY et al (1997) Use of fl uorescence in situ hybridization (FISH) to assess effects of smoking, caffeine, and alcohol on aneuploidy load in sperm of healthy men. Environ Mol Mutagen 30(2):175-183
42. Rousseau F, Bonaventure J, Legeai-Mallet L et al (1996) Mutations of the fi broblast growth factor receptor-3 gene in achondroplasia. Horm Res 45(1-2):108-110
43. Rousseaux S, Hazzouri M, Pelletier R et al (1998) Disomy rates for chromosomes 14 and 21 studied by fl uorescent in-situ hybridization in spermatozoa from three men over 60 years of age. Mol Hum Reprod 4(7):695-699
44. Rubes J, Lowe X, Moore D 2nd et al (1998) Smoking cigarettes is associated with increased sperm disomy in teenage men. Fertil Steril 70(4):715-723
45. Rudak E, Jacobs PA, Yanagimachi R (1978) Direct analysis of the chromosome constitution of human spermatozoa. Nature 274(5674):911-913
46. Sartorelli EM, Mazzucatto LF, de Pina-Neto JM (2001) Effect of paternal age on human sperm chromosomes. Fertil Steril 76(6):1119-1123
47. Sartorius GA, Nieschlag E (2010) Paternal age and reproduction. Hum Reprod Update 16(1):65-79
48. Schmid TE, Grant PG, Marchetti F et al (2012) Elemental composition of human semen is associated with motility and genomic sperm defects among older men. Hum Reprod 28:274-282, Oxford, England
49. Seymour F, Duffy C, Korner A (1935) A case of authentic fertility in a man of 94. JAMA 105: 1423-1424
50. Shi Q, Martin RH (2000) Aneuploidy in human sperm: a review of the frequency and distribution of aneuploidy, effects of donor age and lifestyle factors. Cytogenet Cell Genet 90(3-4):219-226
51. Singh NP, Muller CH, Berger RE (2003) Effects of age on DNA double-strand breaks and apoptosis in human sperm. Fertil Steril 80(6):1420-1430
52. Sloter E, Nath J, Eskenazi B et al (2004) Effects of male age on the frequencies of germinal and heritable chromosomal abnormalities in humans and rodents. Fertil Steril 81(4):925-943
53. Sloter ED, Marchetti F, Eskenazi B et al (2007) Frequency of human sperm carrying structural aberrations of chromosome 1 increases with advancing age. Fertil Steril 87(5):1077-1086
54. Tarin JJ, Brines J, Cano A (1998) Long-term effects of delayed parenthood. Hum Reprod 13(9): 2371-2376
55. Templado C, Donate A, Giraldo J et al (2011) Advanced age increases chromosome structural abnormalities in human spermatozoa. Eur J Hum Genet 19(2):145-151
56. Thomas NS, Durkie M, Van Zyl B et al (2006) Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man. Hum Genet 119(4):444-450
57. Thomas NS, Morris JK, Baptista J et al (2012) De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a signifi cant increase in paternal age. J Med Genet 47(2):112-115
58. Tiemann-Boege I, Navidi W, Grewal R et al (2002) The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect. Proc Natl Acad Sci USA 99(23): 14952-14957
59. Unryn BM, Cook LS, Riabowol KT (2005) Paternal age is positively linked to telomere length of children. Aging Cell 4(2):97-101
60. Vagnini L, Baruffi RL, Mauri AL et al (2007) The effects of male age on sperm DNA damage in an infertile population. Reprod Biomed Online 15(5):514-519
61. Wiener-Megnazi Z, Auslender R, Dirnfeld M (2012) Advanced paternal age and reproductive outcome. Asian J Androl 14(1):69-76
62. Wilkie AO, Slaney SF, Oldridge M et al (1995) Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 9(2):165-172
63. Wyrobek AJ, Eskenazi B, Young S et al (2006) Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm. Proc Natl Acad Sci USA 103(25):9601-9606