Анеуплодия в сперматозоидах у фертильных мужчин и пациентов с нарушением репродукции
https://doi.org/10.17650/1726-9784-2021-22-4-27-35
Аннотация
В статье рассматриваются современные данные по анеуплоидии в сперматозоидах у здоровых (фертильных) мужчин и пациентов с нарушением репродуктивной функции. Обсуждаются механизмы возникновения анеуплоидии в половых клетках и факторы, влияющие на ее уровень, связь с аномалиями кариотипа, нарушениями сперматогенеза, мейоза и снижением показателей сперматозоидов, а также влияние анеуплоидии в мужских гаметах на фертильность мужчин, развитие эмбриона и вынашивание беременности.
Об авторах
А. О. Седова
Медико-генетический научный центр им. акад. Н.П. Бочкова
Россия
Россия
115522 Москва, ул. Москворечье, 1.
А. И. Мартемьянова
Медико-генетический научный центр им. акад. Н.П. Бочкова
Россия
Россия
115522 Москва, ул. Москворечье, 1.
В. Б. Черных
Медико-генетический научный центр им. акад. Н.П. Бочкова
Россия
Россия
Черных Вячеслав Борисович.
115522 Москва, ул. Москворечье, 1.
Список литературы
1. Ioannou D., Fortun J., Tempest H.G. Meiotic non disjunction and sperm aneuploidy in humans. Reproduction 2019;157(1):R15-R31. DOI: 10.1530/REP-18-0318.
2. Piomboni P., Stendardi A., Gambera L. Chromosomal aberrations and aneuploidies of spermatozoa. Adv Exp Med Biol 2014;791:27-52. DOI: 10.1007/978-1-4614-7783-9_3.
3. Hassold T., Hunt P. to err (meiotically) is human: the genesis of human aneuploidy. Nat Rev Genet 2001;2(4):280-91. DOI: 10.1038/35066065.
4. Hassold T., Hunt P.A., Sherman S. Trisomy in humans: incidence, origin and etiology. Curr Opin Genet Dev 1993;3(3):398-403. DOI: 10.1016/0959-437x(93)90111-2.
5. Munne S., Sandalinas M., Magli C. et al. Increased rate of aneuploid embryos in young women with previous aneuploid conceptions. Prenat Diagn 2004; 24(8):638-43. DOI: 10.1002/pd.957.
6. Vanneste E., Voet T., Le Caignec C. et al. Chromosome instability is common in human cleavage-stage embryos. Nat Med 2009;15(5):577-83. DOI: 10.1038/nm.1924.
7. Ioannou D., Tempest H.G. Meiotic Nondisjunction: Insights into the Origin and Significance of Aneuploidy in Human Spermatozoa. Adv Exp Med Biol 2015;868:1-21. DOI: 10.1007/978-3-319-18881-2_1.
8. Templado C., Uroz L., Estop A. New insights on the origin and relevance of aneuploidy in human spermatozoa. Mol Hum Reprod 2013;19(10):634-43. DOI: 10.1093/molehr/gat039.
9. Hassold T., Hall H., Hunt P. The origin of human aneuploidy: where we have been, where we are going. Hum Mol Genet 2007;16(R2):R203-8. DOI: 10.1093/hmg/ddm243.
10. Hassold T., Hunt P. Maternal age and chromosomally abnormal pregnancies: what we know and what we wish we knew. Curr Opin Pediatr 2009;21(6):703-8. DOI: 10.1097/MOP.0b013e328332c6ab.
11. Martmez-Pasarell O., Templado C., Egozcue J. et al. PCR protocol to detect parental origin and hidden mosaicism in Sex chromosome aneuploidies. Horm Res 1999;51(5):248-52. DOI: 10.1159/000023379.
12. Ramasamy R., Scovell J.M., Kovac J.R. et al. Fluorescence in situ hybridization detects increased sperm aneuploidy in men with recurrent pregnancy loss. Fertil Steril 2015;103(4):906-9.e1. DOI: 10.1016/j.fertnstert.2015.01.029.
13. Templado C., Marquez C., Munne S. et al. An analysis of human sperm chromosome aneuploidy. Cytogenet Cell Genet 1996;74(3):194-200. DOI: 10.1159/000134413.
14. Tempest H.G. Meiotic recombination errors, the origin of sperm aneuploidy and clinical recommendations. Syst Biol Reprod Med 2011;57(1-2):93-101. DOI: 10.3109/19396368.2010.504879.
15. Sarrate Z., Anton E. Fluorescence in situ hybridization (FISH) protocol in human sperm. J Vis Exp 2009;(31):1405. DOI:10.3791/1405.
16. Garcia-Cruz R., Casanovas A., Brieno-Enriquez M. et al. Cytogenetic analyses of human oocytes provide new data on non-disjunction mechanisms and the origin of trisomy 16. Hum Reprod 2010;25(1):179-91. DOI: 10.1093/humrep/dep347.
17. Uroz L., Templado C. Meiotic nondisjunction mechanisms in human fertile males. Hum Reprod 2012;27(5):1518-24. DOI: 10.1093/humrep/des051.
18. Andreescu N.I., Cosma M., Farca§ S.S. et al. Assessment of chromosomal aneuploidies in sperm of infertile males by using FISH technique. Rom J Morphol Embryol 2016;57(1):173-78. PMID: 27151704.
19. Ferguson K.A., Wong E.C., Chow V. et al. Abnormal meiotic recombination in infertile men and its association with sperm aneuploidy. Hum Mol Genet 2007;16(23):2870-9. DOI: 10.1093/hmg/ddm246.
20. Shi Q., Martin R.H. Aneuploidy in human sperm: a review of the frequency and distribution of aneuploidy, effects of donor age and lifestyle factors. Cytogenet Cell Genet 2000;90(3-4):219-26. DOI: 10.1159/000056773.
21. Tempest H.G., Griffin D.K. The relationship between male infertility and increased levels of sperm disomy. Cytogenet Genome Res 2004;107(1-2): 83-94. DOI: 10.1159/000079575.
22. Martin R.H. Meiotic chromosome abnormalities in human spermatogenesis. Reprod Toxicol 2006;22(2):142-7. DOI: 10.1016/j.reprotox.2006.03.013.
23. Sun F., Fang H., Li R. et al. Nuclear reprogramming: the zygotic transcription program is established through an “erase-and-rebuild” strategy. Cell Res 2007; 17(2):117-34. DOI: 10.1038/cr.2007.1.
24. Hunt P.A., Hassold T.J. Sex matters in meiosis. Science 2002;296(5576):2181-3. DOI: 10.1126/science.1071907.
25. Blanco-Rodriguez J. A matter of death and life: the significance of germ cell death during spermatogenesis. Int J Androl 1998;21(5):236-48. DOI: 10.1046/j.1365-2605.1998.00133.x.
26. Kovanci E., Kovacs T., Moretti E. et al. FISH assessment of aneuploidy frequencies in mature and immature human spermatozoa classified by the absence or presence of cytoplasmic retention. Hum Reprod 2001;16(6):1209-17. DOI: 10.1093/humrep/16.6.1209.
27. Chatziparasidou A., Christoforidis N., Samolada G., Nijs M. Sperm aneuploidy in infertile male patients: a systematic review of the literature. Andrologia 2015;47(8):847-60. DOI: 10.1111/and.12362.
28. Donate A., Estop A.M., Giraldo J., Templado C. Paternal Age and Numerical Chromosome Abnormalities in Human Spermatozoa. Cytogenet Genome Res 2016;148(4):241-8. DOI: 10.1159/000446724.
29. Sloter E., Nath J., Eskenazi B., Wyrobek A.J. Effects of male age on the frequencies of germinal and heritable chromosomal abnormalities in humans and rodents. Fertil Steril 2004;81(4):925-43. DOI: 10.1016/j.fertnstert.2003.07.043.
30. McKinly Gardner R.J., Armor D.J. Gardner and Sutherland’s Chromosome Abnormalities and Genetic Counseling, 5th edn. Oxford University Press, 2018. 1268 p.
31. Guttenbach M., Engel W., Schmid M. Analysis of structural and numerical chromosome abnormalities in sperm of normal men and carriers of constitutional chromosome aberrations. Hum Genet 1997;100(1):1-21. DOI: 10.1007/s004390050459.
32. Rubes J., Vozdova M., Oracova E., Perreault S.D. Individual variation in the frequency of sperm aneuploidy in humans. Cytogenet Genome Res 2005;111(3-4):229-36. DOI: 10.1159/000086893.
33. Mougou-Zerelli S., Brahem S., Kammoun M. et al. Detection of aneuploidy rate for chromosomes X, Y and 8 by fluorescence in-situ hybridization in spermatozoa from patients with severe non-obstructive oligozoospermia. J Assist Reprod Genet 2011;28(10):971-7. DOI: 10.1007/s10815-011-9621-x.
34. Aran B., Blanco J., Vidal F. et al. Screening for abnormalities of chromosomes X, Y, and 18 and for diploidy in spermatozoa from infertile men participating in an in vitro fertilization-intracytoplasmic sperm injection program. Fertil Steril 1999;72(4):696-701. DOI: 10.1016/s0015-0282(99)00307-6.
35. Vegetti W., Marozzi A., Manfredini E. et al. Premature ovarian failure. Mol Cell Endocrinol 2000;161(1-2):53-7. DOI: 10.1016/s0303-7207(99)00224-5.
36. Gole L.A., Wong P.F., Ng P.L. et al. Does sperm morphology play a significant role in increased sex chromosomal disomy? A comparison between patients with teratozoospermia and OAT by FISH. J Androl 2001;22(5):759-63. PMID: 11545287.
37. Templado C., Hoang T., Greene C. et al. Aneuploid spermatozoa in infertile men: teratozoospermia. Mol Reprod Dev 2002;61(2):200-4. DOI: 10.1002/mrd.1148.
38. Brahem S., Elghezal H., Ghedir H. et al. Cytogenetic and molecular aspects of absolute teratozoospermia: comparison between polymorphic and monomorphic forms. Urology 2011;78(6):1313-9. DOI: 10.1016/j.urology.2011.08.064.
39. Sarrate Z., Vidal F., Blanco J. Role of sperm fluorescent in situ hybridization studies in infertile patients: indications, study approach, and clinical relevance. Fertil Steril 2010;93(6):1892-902. DOI: 10.1016/j.fertnstert.2008.12.139.
40. Sun F., Ko E., Martin R.H. Is there a relationship between sperm chromosome abnormalities and sperm morphology? Reprod Biol Endocrinol 2006;4:1. DOI: 10.1186/1477-7827-4-1.
41. Perrin A., Morel F., Moy L. et al. Study of aneuploidy in large-headed, multipletailed spermatozoa: case report and review of the literature. Fertil Steril 2008;90(4):1201.e13-7. DOI: 10.1016/j.fertnstert.2007.09.013.
42. Brahem S., Mehdi M., Elghezal H., Saad A. The effects of male aging on semen quality, sperm DNA fragmentation and chromosomal abnormalities in an infertile population. J Assist Reprod Genet 2011;28(5):425-32. DOI: 10.1007/s10815-011-9537-5.
43. Morel F., Douet-Guilbert N., Moerman A. et al. Chromosome aneuploidy in the spermatozoa of two men with globozoospermia. Mol Hum Reprod 2004;10(11):835-8. DOI: 10.1093/molehr/gah111.
44. Carrell D.T., Emery B.R., Liu L. Characterization of aneuploidy rates, protamine levels, ultrastructure, and functional ability of round-headed sperm from two siblings and implications for intracytoplasmic sperm injection. Fertil Steril 1999;71(3):511-6. DOI: 10.1016/s0015-0282(98)00498-1.
45. The genetics of male infertility. Ed. by D.T. Carrell. Humana Press, Totowa, 2007.
46. Hasle H., Mellemgaard A., Nielsen J., Hansen J. Cancer incidence in men with Klinefelter syndrome. Br J Cancer 1995;71(2):416-20. DOI: 10.1038/bjc.1995.85.
47. Blanco J., Egozcue J., Vidal F. Meiotic behaviour of the sex chromosomes in three patients with sex chromosome anomalies (47, XXY, mosaic 46,XY/47, XXY and 47, XYY) assessed by fluorescence in-situ hybridization. Hum Reprod 2001;16(5):887-92. DOI: 10.1093/humrep/16.5.887.
48. Lanfranco F., Kamischke A., Zitz-mann M., Nieschlag E. Klinefelter's syndrome. Lancet 2004;364(9430):273-83. DOI: 10.1016/S0140-6736(04)16678-6.
49. Robinson D.O., Jacobs P.A. The origin of the extra Y chromosome in males with a 47,XYY karyotype. Hum Mol Genet 1999;8(12):2205-9. DOI: 10.1093/hmg/8.12.2205.
50. Денисенко С.В., Дарий А.С., Кононенко М.И., Зерова-Любимова Т.Э. Генетика репродукции. Киев: Ферзь-ТА, 2008. 652 с.
51. Ferlin A., Garolla A., Foresta C. Chromosome abnormalities in sperm of individuals with constitutional sex chromosomal abnormalities. Cytogenet Genome Res 2005;111(3-4):310-6. DOI: 10.1159/000086905.
52. Harton G.L., Tempest H.G. Chromosomal disorders and male infertility. Asian J Androl 2012;14(1):32-9. DOI: 10.1038/aja.2011.66.
53. Mau-Holzmann U.A. Somatic chromosomal abnormalities in infertile men and women. Cytogenet Genome Res 2005;111(3-4):317-36. DOI: 10.1159/000086906.
54. Martin R.H. Cytogenetic determinants of male fertility. Hum Reprod Update 2008;14(4):379-90. DOI: 10.1093/humupd/dmn017.
55. Hajlaoui A., Slimani W., Kammoun M. et al. Sperm fluorescent in situ hybridisation study of interchromosomal effect in six Tunisian carriers of reciprocal and Robertsonian translocations. Andrologia 2018. Ahead of print. DOI: 10.1111/and.12949.
56. Godo A., Blanco J., Vidal F. et al. Altered segregation pattern and numerical chromosome abnormalities interrelate in spermatozoa from Robertsonian translocation carriers. Reprod Biomed Online 2015;31(1):79-88. DOI: 10.1016/j.rbmo.2015.04.003.
57. Oliver-Bonet M., Ko E., Martin R.H. Male infertility in reciprocal translocation carriers: the sex body affair. Cytogenet Genome Res 2005;111(3-4):343-6. DOI: 10.1159/000086908.
58. Van Assche E., Bonduelle M., Tournaye H. et al. Cytogenetics of infertile men. Hum Reprod 1996;11(Supl 4):1-26; discussion 25-6. DOI: 10.1093/humrep/11.suppl_4.1.
59. Shi Q., Martin R.H. Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men. Reproduction 2001;121(5):655-66. DOI: 10.1530/rep.0.1210655.
60. Martin R.H. Meiotic errors in human oogenesis and spermatogenesis. Reprod Biomed Online 2008;16(4):523-31. DOI: 10.1016/s1472-6483(10)60459-2.
61. Frydman N., Romana S., Le Lorc’h M. et al. Assisting reproduction of infertile men carrying a Robertsonian translocation. Hum Reprod 2001;16(11):2274-7. DOI: 10.1093/humrep/16.11.2274.
62. Anton E., Blanco J., Egozcue J., Vidal F. Sperm studies in heterozygote inversion carriers: a review. Cytogenet Genome Res 2005;111(3-4):297-304. DOI: 10.1159/000086903.
63. Malan V., Pipiras E., Sifer C. et al. Chromosome segregation in an infertile man carrying a unique pericentric inversion, inv(21)(p12q22.3), analysed using fluorescence in situ hybridization on sperm nuclei: significance for clinical genetics. A case report. Hum Reprod 2006;21(8):2052-6. DOI: 10.1093/humrep/del090.
64. Morel F., Laudier B., Guerif F. et al. Meiotic segregation analysis in spermatozoa of pericentric inversion carriers using fluorescence in-situ hybridization. Hum Reprod 2007;22(1):136-41. DOI: 10.1093/humrep/del317.
65. Anton E., Blanco J., Vidal F. Recombination in heterozygote inversion carriers. Hum Reprod 2007;22(4):1192. DOI: 10.1093/humrep/del469.
Рецензия
Для цитирования:
Седова А.О., Мартемьянова А.И., Черных В.Б. Анеуплодия в сперматозоидах у фертильных мужчин и пациентов с нарушением репродукции. Андрология и генитальная хирургия. 2021;22(4):27-35. https://doi.org/10.17650/1726-9784-2021-22-4-27-35
For citation:
Sedova A.O., Martemyanova A.I., Chernykh V.B. Aneuploidy in sperm of fertile men and patients with impaired fertility. Andrology and Genital Surgery. 2021;22(4):27-35. (In Russ.) https://doi.org/10.17650/1726-9784-2021-22-4-27-35
Просмотров: 269
Послать статью по эл. почте 