How to Cite
Midro, A., & Castañeda, J. (2018). Genetic and epigenetic determinals of male infertility. Quarterly Journal Fides Et Ratio, 35(3), 190-206. Retrieved from https://fidesetratio.com.pl/ojs/index.php/FetR/article/view/548
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Keywords
Abstract
Functional disturbances of the human genome caused by the presence of chromosomal aberrations, gene mutations or polymorphic variants, as well as through the dysfunction of epigenetic factors regulating the expression of individual genes, may cause male infertility or childlessness. The effect of each causative factor is manifested at various stages of human development ranging from the male gamete through spermatogenesis and spermiogenesis, disorders of which cause azoospermia or oligozoospermia, up to the occurrence of developmental disorders in the prenatal and postnatal period of progeny, including lethality. The diagnostic process of male infertility at present should include the evaluation of chromosomal aberrations in the karyotype, Yq microdeletions, mutations of genes associated with rare genetic disorders involving infertility in their symptomatology, in connection with epigenetic disorders.
References
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Dostępny https://www.ncbi.nlm.nih.gov/books/NBK1334/
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Dostępny http://endokrynologiapediatryczna.pl/?doi=10.18544/EP- 01.14.01.1513.
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Źródła elektroniczne
Project http://www.genome.gov/25019879
Aoki V.W., Moskovtsev S. I., Willis J., Liu L., Mullen J. B., Carrell D. T. (2005), DNA integrity is compromised in protamine-deficient human sperm, Journal of Andrology, 26, 741–48.
Balasubramanian R, Crowley W. F. Jr. Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. 2007 May 23 [Updated 2017 Mar 2]. (w:) Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (w): University of Washington, Seattle; 1993-2018.
Dostępny https://www.ncbi.nlm.nih.gov/books/NBK1334/
Barker D. J., Eriksson J. G., Forsén T., Osmond C. (2002), Fetal origins of adult disease: strength of effects and biological basis, International Journal of Epidemiology, 31, 1235–1239.
Barlow D.P. (2011), Genomic imprinting: a mammalian epigenetic discovery model, Annual Reviews of Genetetics, 45, 379–403.
Biczysko-Mokosa A., Petriczko E., Horodnicka-Józwa A., Zespół Kallmanna – późne rozpoznanie i leczenie. Endokrynologia Pediatryczna, (2015), 14.1.50, 67-70.
Dostępny http://endokrynologiapediatryczna.pl/?doi=10.18544/EP- 01.14.01.1513.
Black J. C., Whetstine J. R., 2011, Chromatin landscape: methylation beyond transcription, Epigenetics, 6, 9–15.
Botezatu A., Socolov R., Socolov D., Iancu I. V., Anton G. (2014), Methylation pattern of methylene tetrahydrofolate reductase and small nuclear ribonucleoprotein polypeptide N promoters in oligoasthenospermia: a case-control study, Reproductive BioMedicine Online 28(2), 225-31.
Carrell D. T. ( 2012), Epigenetics of the male gamete, Fertility and Sterility, 97, 267-74.
Chianese C., Gunning A. C., Giachini C., Daguin F., Balercia G., Ars E., Lo Giacco D., Ruiz-Castañé E., Forti G., Krausz C. (2014), X chromosome-linked CNVs in male infertility: discovery of overall duplication load and recurrent, patient-specific gains with potential clinical relevance, PLoS ONE, 9, e97746.
Delobel B., Djlelati R., Gabriel-Robez O., Croquette M.F., Rousseaux-Prevost R., Rousseaux J., Rigot J. M., Rumpler Y. (1998), Y-autosome translocation and infertility: usefulness of molecular, cytogenetic and meiotic studies, Human Genetics, 102, 98-102.
de Mateo S., Ramos L., de Boer P., Meistrich M., Oliva R., 2011, Protamine 2 precursors and processing, Protein and Peptide Letters, 18, 778–85.
de Yebra L., Ballesca J.L., Vanrell J.A., Corzett M., Balhorn R., Oliva R. (1998), Detection of p2 precursors in the sperm cells of infertile patients who have reduced protamine p2 levels, Fertility and Sterility, 69, 755–759.
Dixon J. R., Jung I., Selvaraj S., Shen Y., Antosiewicz-Bourget J. E., Lee1 A. Y., Ye1 Z., Kim A., Rajagopal N., Xie W., Diao Y., Liang J., Zhao H., Lobanenkov V.V., Ecker J. R., Thomson J., Ren B. (2015), Chromatin Architecture Reorganization during Stem Cell Differentiation, Nature 19; 518(7539), 331–336.
Esteves S.C. (2013), A clinical appraisal of the genetic basis in unexplained male infertility, Journal of Human Reproductive Sciences, 6, 176–182.
Ferlin A., Raicu F., Gatta V., Zuccarello D., Palka G., Foresta C. (2007), Male infertility: role of genetic background, Reproductive BioMedicine Online, Jun, 14(6), 734-45.
Gatta V., Raicu F., Ferlin A., Antonucci I., Scioletti A. P., Garolla A., Palka G., Foresta C., Stuppia L. (2010), Testis transcriptome analysis in male infertility: new insight on the pathogenesis of oligo-azoospermia in cases with and without AZFc microdeletion, BMC Genomics, 24;11, 401.
Godo A., Blanco J., Vidal., Anton E. (2013), Accumulation of numerical and structural chromosome imbalances in spermatozoa from reciprocal translocation carriers, Human Reproduction, 28, 840-849.
Hallgrimsson B., Hall B. K. (2011), Epigenetics: Linking Genotype and Phenotype in Development and Evolution, University of California Press: Oakland, CA, USA.
Hamatani T. (2011), Spermatozoal RNA, profiling towards a clinical evaluation of sperm quality, Reproductive BioMedicine Online 22, 103.
Hammoud S. S., Purwar J., Pflueger C., Cairns B. R., Carrell D. T. (2010), Alterations in sperm DNA methylation patterns at imprinted loci in two classes of infertility, Fertility and Sterility, 94(5), 1728-33.
Hotaling J., Carrell D. T. (2014), Clinical genetic testing for male factor infertility: current applications and future directions, Andrology, 2, 339-50.
Houshdaran S., Cortessis V.K., Siegmund K., Yang A., Laird P.W., Sokol R.Z. (2007), Widespread epigenetic abnormalities suggest a broad DNA methylatio-nerasure defect in abnormal human sperm, PLoS ONE 2, e1289.
Ichiyanagi T., Ichiyanagi K., Miyake M,. Sasaki H. (2013), Accumulation and loss of asymmetric non-CpG methylation during male germ-cell development, Nucleic Acids Reserches, 41, 738–45.
Jorgez C.J., Weedin J.W., Sahin A., Tannour-Louet M., Han S., Bournat J.C, Mielnik A., Cheung S.W., Nangia A.K., Schlegel P.N., Lipshultz L.I., Lamb D.J. (2011), Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions, The Journal of Clinical Endocrinology and Metabolism, 96, E674–679.
Khazamipour N., Noruzinia M., Fatehmanesh P., Keyhanee M., Pujol P. (2009), MTHFR promoter hypermethylation I n testicular biopsies of patients with non-obstructive azoospermia: the role of epigenetics in male infertility, Human Reproduction, 24, 2361–2364.
Kobayashi H., Sato A., Otsu E., Hiura H., Tomatsu C., Utsunomiya T., Sasaki H., Yaegashi N., Arima T. (2007), Aberrant DNA methylation of imprinted loci in sperm from oligospermic patients, Human Molecular Genetetis 1;16(21), 2542-51.
Kochański A., Jopek A., Gadzinowski J., Midro A.T. (2016), Zaburzenia genetyczne u potomstwa powstałe w związku ze stosowaniem metod zapłodnienia pozaustrojowego in vitro, Przegląd Pediatryczny, 45, No 4/34-40.
Kotaja N. (2014), MicroRNAs and spermatogenesis. Fertility and Sterility, 101, 1552–1562.
Krausz C., Giachini C., Lo Giacco D., Daguin F., Chianese C., Ars E., Ruiz-Castane E., Forti G., Rossi E. (2012), High resolution X chromosome-specific array-CGH detects new CNVs in infertile males, PLoS ONE, 7, e44887.
Liyanage V.R., Jarmasz J.S., Murugeshan N., Del Bigio M.R., Rastegar M., Davie J.R. (2014). DNA modifications: function and applications in normal and disease States, Biology (Basel), 3, 670–723.
Luddi A., Margollicci M., Gambera L., Serafini F., Cioni M., De Leo V., Balestri P., Piomboni P. (2009), Spermatogenesis in a man with complete deletion of USP9Y, The New England Journal of Medicine, 360, 881–885.
Mafra F.A., Christofolini D.M., Bianco B., Gava M.M., Glina S., Belangero S.I., Barbosa C.P. (2011), Chromosomal and molecular abnormalities in a group of Brazilian infertile men with severe oligozoospermia or non-obstructive azoospermia attending on infertility service, International Brazilian Journal of Urology, 37, 244-250.
Marques C.J., Costa P., Vaz B., Carvalho F., Fernandes S., Barros A., Sousa M. (2008), Abnormal methylation of imprinted genes in human sperm is associated with oligozoospermia, Molecular Human Reproduction, 14(2), 67-74.
Mayer W., Niveleau A., Walter J., Fundele R., Haaf T. (2000), Embryogenesis: demethylation of the zygotic paternal genome, Nature, 403, 501–502.
Midro A.T. (2011), Poradnictwo genetyczne. (w:) Genetyka medyczna. Podręcznik dla studentów i lekarzy pod red. G. Drewy i T. Ferenca, Łódź.
Midro A.T. (2016a.) Utrata ciąży jako wynik ograniczonej przeżywalności dzieci
z wadami rozwojowymi, Życie i Płodność, 2016, 85-104. Wydawnictwo SWPR Warszawa, Profilaktyka zaburzeń zdrowia prokreacyjnego: Wczesne niepowodzenia prokreacji – etiologia, prewencja i postępowanie w ujęciu interdyscyplinarnym.
Midro A.T. (2016b). Elementy seksomu w kształtowaniu się płci męskiej bądź żeńskiej osoby ludzkiej, (w:) Gender – spojrzenie krytyczne, J. Jagiełło i D. Oko (red.), 81-97, Kielce: Wydział Filozoficzny Uniwersytetu Papieskiego Jana Pawła II.
Moskowitz S.M., Chmiel J. F., Sternen D.L., Cheng E., Gibson R.L., Marshall S.G., Cutting G.R. (2008), Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders Genetics in Medicine, vol. 10, 851–868. doi:10.1097/GIM.0b013e31818e55a2
Navarro-Costa P., Nogueira P., Carvalho M., Leal F., Cordeiro I., Calhaz-Jorge C., Gonçalves J., Plancha C. E. (2010). Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm, Human Reproductive, 25(10), 2647-2654.
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Project http://www.genome.gov/25019879
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