Jak cytować
Midro, A., & Castañeda, J. (2018). Genetyczne i epigenetyczne uwarunkowania niepłodności męskiej. Kwartalnik Naukowy Fides Et Ratio, 35(3), 190-206. Pobrano z https://fidesetratio.com.pl/ojs/index.php/FetR/article/view/548
Język / Language
Słowa kluczowe
Abstrakt
Nieprawidłowe funkcjonowanie genomu człowieka poprzez obecność aberracji chromosomowych, mutacji genowych albo wariantów polimorficznych, a także poprzez wadliwe działanie czynników epigenetycznych regulujących ekspresję poszczególnych genów może być powodem męskiej niepłodności albo bezdzietności. Efekt działania poszczególnych czynników manifestuje się na różnym etapie rozwoju człowieka, począwszy od stanu gamety męskiej, poprzez spermatogenezę i spermiogenezę, których zaburzenia manifestują się azoospermią czy oligozoospermią, aż do zaburzeń rozwoju potomstwa w okresie prenatalnym i postnatalnym, które mogą być letalne. Obecność aberracji chromosomowych w kariotypie, mikrodelecji chromosomu Yq czy mutacji genów stanowiących przyczyny rzadkich schorzeń genetycznych związanych z zaburzeniami niepłodności powinny być dziś oceniane także w powiązaniu ze schorzeniami epigenetycznymi.
Bibliografia
Allegrucci C., Thurston A., Lucas E., Young L. (2005), Epigenetics and the germline. Reproduction, 129, 137–49.
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.
Noordam M.J., Westerveld G.H., Hovingh S.E., van Daalen S.K., Korver C.M., van der Veen F., van Pelt A.M., Repping S. (2011), Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count, Human Moleculary Genetetics, 20, 2457–2463.
Olszewska M., Barciszewska M.Z., Frączek M., Huleyuk N., Chernykh V.B., Zastavna D., Barciszewski J., Kurpisz M. (2017), Global methylation status of sperm DNA in carriers of chromosome structural aberrations, Asian Journal of Andrology, 19(1), 117-124.
Ong T., Marshall S. G., Karczeski B.A. I in., Cystic Fibrosis and Congenital Absence of the Vas Deferens. 2001 Mar 26 [Updated 2017 Feb 2]. W: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
Dostępny https://www.ncbi.nlm.nih.gov/books/NBK1250/
Poplinski A., Tüttelmann F., Kanber D., Horsthemke B., Gromoll J. (2010), Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2/H19 ICR1, International Journal of Andrology, 33, 642–649.
Puri D., Dhawan J., Mishra R.K. (2010), The paternal hidden agenda: epigenetic inheritance through sperm chromatin, Epigenetics, 5, 386–391.
Rajender S., Avery K., Agarwal A. (2011), Epigenetics, spermatogenesis and male infertility, Mutation Research, 727, 62–71.
Riggs A.D., Martienssen R.A., Russo V.E.A. (1996), Introduction. In Epigenetic mechanisms of gene regulation. Cold Spring Harbor: Cold Spring Harbor Laboratory Press.
Rosenmann A., Wahrman J., Richler C., Voss R., Persitz A., Goldman B. (1985), Meiotic association between the XY chromosomes and unpaired autosomal elements as a cause of human male sterility, Cytogenetics and Cell Genetetics, 39(1), 19-29.
Schagdarsurengin U., Paradowska A., Steger K. (2012), Analysing the sperm epigenome: roles in early embryogenesis and assisted reproduction, Nature Reviews Urology, 9, 609–619.
Silber S. J. (2011), The Y chromosome in the era of intracytoplasmic sperm injection: a personal review, Fertility and Sterility, 95, 2439–48.
Silber S.J., Disteche C.M., Y Chromosome Infertility. (2002), [updated 2012]. (w:) M.P. Adam, H.H. Ardinger, R.A. Pagon, S.E. Wallace, B.J.H. Bean, K. Stephens, A. Amemiya (rds.), GeneReviews®. Seattle (WA): University of Washington.
Skaletsky H., Kuroda-Kawaguchi T., Minx P.J., Cordum H.S., Hillier L., Brown L.G., Repping S., Pyntikova T., Ali J., Bieri T., Chinwalla A., Delehaunty A., Delehaunty K., Du H., Fewell G., Fulton L., Fulton R., Graves T., Hou S.F., Latrielle P., Leonard S., Mardis E., Maupin R., McPherson J., Miner T., Nash W., Nguyen C., Ozersky P., Pepin K., Rock S., Rohlfing T., Scott K., Schultz B., Strong C., Tin-Wollam A., Yang S.P., Waterston R.H., Wilson R.K., Rozen S., Page D.C. (2003), The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes, Nature, 19; 423(6942), 825-37.
Stasiewicz-Jarocka B., Rączkiewicz B., Kowalczyk D., Zawada M., Midro A.T. (2000), Ryzyko genetyczne rodzin obciążonych translokacją chromosomową t(1;2)(q42;q33) GTG, RHG, QFQ, FISH, Ginekologia Polska, 71, 10, 1262-72.
Stuppia L., Gatta V., Calabrese G., Guanciali Franchi P., Morizio E., Bombieri C., Mingarelli R., Sforza V., Frajese G., Tenaglia R., Palka G. (1998), A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11, Human Genetics, 102(5), 566-570.
Torregrosa N., Domínguez-Fandos D., Camejo M.I., Shirley C.R., Meistrich M.L., Ballescà J.L. (2006), Protamine 2 precursors, protamine 1/protamine 2 ratio, DNA integrity and other sperm parameters in infertile patients, Human Reproduction, 21, 2084–89.
Wang R.X., Zhang H.G., Pan Y., Chen S., Yue F. G., Zhu D.L., Liu R.Z. (2016), Translocation breakpoints of chromosome 1 in male carriers: clinical features and implications for genetic counseling, Genetics and Molecular Researches, 5; 15(4).
Wosnitzer M.S. (2014), Genetic evaluation of male infertility, Translational Andrology and Urology, Mar; 3(1), 17-26.
Wu W., Shen O., Qin Y., Niu X., Lu C., Xia Y., Song L., Wang S., Wang X. (2010), Idiopathic male infertility is strongly associated with aberrant promoter methylation of methylenetetrahydrofolate reductase (MTHFR), PLoS One, 5(11), e13884.
van Montfoort A.P., Hanssen L.L., de Sutter P., Viville S., Geraedts J.P., de Boer P. (2012), Assisted reproduction treatment and epigenetic inheritance, Human Reproduction Update, 18, 171–197.
Yanagimachi R. (2005), Male gamete contributions to the embryo, Annals of the New York Academy of Sciences, 1061, 203–207.
Yu J., Chen Z., Ni Y., Li Z. (2012), CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis, Human Reproduction, 27(1), 25-35.
Zhang H.G., Wang R.X., Pan Y., Zhu J.H., Xue L.T., Yang X., Liu R.Z. (2016), Translo-cation breakpoints of chromosome 4 in male carriers: clinical features and implications for genetic counseling, Genetics and Molecular Researches, 2, 15(4).
Zhang X., Zhang H., Hu C., Wang R., Xi Q., Liu R. (2017), Clinical features of carriers of reciprocal chromosomal translocation involving chromosome 2: report of nine cases and review of the literature, International Brazilian Journal of Urology, 11, 43.
Zhang H., Wang R., Li L., Jiang Y., Zhang H., Liu R. (2018), Clinical feature of infertile men carrying balanced translocations involving chromosome 10: Case series and a review of the literature, Medicine (Baltimore) 97(15), e0452.
Zhang H., Wang R., Li L., Zhu H., Zhang H., Liu R. (2018), Translocation breakpoints of chromosome 3 in male carriers: a report of twelve cases and a review of the literature, Turkish Journal of Medical Sciences, 48, 150-156.
Zhang H.G., Wang R.X., Pan Y., Zhang H., Li L.L., Zhu H.B., Liu R.Z. (2018), A report of nine cases and review of the literature of infertile men carrying balanced translocations involving chromosome 5, Molecular Cytogenetics, 25; 11, 10.
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.
Noordam M.J., Westerveld G.H., Hovingh S.E., van Daalen S.K., Korver C.M., van der Veen F., van Pelt A.M., Repping S. (2011), Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count, Human Moleculary Genetetics, 20, 2457–2463.
Olszewska M., Barciszewska M.Z., Frączek M., Huleyuk N., Chernykh V.B., Zastavna D., Barciszewski J., Kurpisz M. (2017), Global methylation status of sperm DNA in carriers of chromosome structural aberrations, Asian Journal of Andrology, 19(1), 117-124.
Ong T., Marshall S. G., Karczeski B.A. I in., Cystic Fibrosis and Congenital Absence of the Vas Deferens. 2001 Mar 26 [Updated 2017 Feb 2]. W: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
Dostępny https://www.ncbi.nlm.nih.gov/books/NBK1250/
Poplinski A., Tüttelmann F., Kanber D., Horsthemke B., Gromoll J. (2010), Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2/H19 ICR1, International Journal of Andrology, 33, 642–649.
Puri D., Dhawan J., Mishra R.K. (2010), The paternal hidden agenda: epigenetic inheritance through sperm chromatin, Epigenetics, 5, 386–391.
Rajender S., Avery K., Agarwal A. (2011), Epigenetics, spermatogenesis and male infertility, Mutation Research, 727, 62–71.
Riggs A.D., Martienssen R.A., Russo V.E.A. (1996), Introduction. In Epigenetic mechanisms of gene regulation. Cold Spring Harbor: Cold Spring Harbor Laboratory Press.
Rosenmann A., Wahrman J., Richler C., Voss R., Persitz A., Goldman B. (1985), Meiotic association between the XY chromosomes and unpaired autosomal elements as a cause of human male sterility, Cytogenetics and Cell Genetetics, 39(1), 19-29.
Schagdarsurengin U., Paradowska A., Steger K. (2012), Analysing the sperm epigenome: roles in early embryogenesis and assisted reproduction, Nature Reviews Urology, 9, 609–619.
Silber S. J. (2011), The Y chromosome in the era of intracytoplasmic sperm injection: a personal review, Fertility and Sterility, 95, 2439–48.
Silber S.J., Disteche C.M., Y Chromosome Infertility. (2002), [updated 2012]. (w:) M.P. Adam, H.H. Ardinger, R.A. Pagon, S.E. Wallace, B.J.H. Bean, K. Stephens, A. Amemiya (rds.), GeneReviews®. Seattle (WA): University of Washington.
Skaletsky H., Kuroda-Kawaguchi T., Minx P.J., Cordum H.S., Hillier L., Brown L.G., Repping S., Pyntikova T., Ali J., Bieri T., Chinwalla A., Delehaunty A., Delehaunty K., Du H., Fewell G., Fulton L., Fulton R., Graves T., Hou S.F., Latrielle P., Leonard S., Mardis E., Maupin R., McPherson J., Miner T., Nash W., Nguyen C., Ozersky P., Pepin K., Rock S., Rohlfing T., Scott K., Schultz B., Strong C., Tin-Wollam A., Yang S.P., Waterston R.H., Wilson R.K., Rozen S., Page D.C. (2003), The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes, Nature, 19; 423(6942), 825-37.
Stasiewicz-Jarocka B., Rączkiewicz B., Kowalczyk D., Zawada M., Midro A.T. (2000), Ryzyko genetyczne rodzin obciążonych translokacją chromosomową t(1;2)(q42;q33) GTG, RHG, QFQ, FISH, Ginekologia Polska, 71, 10, 1262-72.
Stuppia L., Gatta V., Calabrese G., Guanciali Franchi P., Morizio E., Bombieri C., Mingarelli R., Sforza V., Frajese G., Tenaglia R., Palka G. (1998), A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11, Human Genetics, 102(5), 566-570.
Torregrosa N., Domínguez-Fandos D., Camejo M.I., Shirley C.R., Meistrich M.L., Ballescà J.L. (2006), Protamine 2 precursors, protamine 1/protamine 2 ratio, DNA integrity and other sperm parameters in infertile patients, Human Reproduction, 21, 2084–89.
Wang R.X., Zhang H.G., Pan Y., Chen S., Yue F. G., Zhu D.L., Liu R.Z. (2016), Translocation breakpoints of chromosome 1 in male carriers: clinical features and implications for genetic counseling, Genetics and Molecular Researches, 5; 15(4).
Wosnitzer M.S. (2014), Genetic evaluation of male infertility, Translational Andrology and Urology, Mar; 3(1), 17-26.
Wu W., Shen O., Qin Y., Niu X., Lu C., Xia Y., Song L., Wang S., Wang X. (2010), Idiopathic male infertility is strongly associated with aberrant promoter methylation of methylenetetrahydrofolate reductase (MTHFR), PLoS One, 5(11), e13884.
van Montfoort A.P., Hanssen L.L., de Sutter P., Viville S., Geraedts J.P., de Boer P. (2012), Assisted reproduction treatment and epigenetic inheritance, Human Reproduction Update, 18, 171–197.
Yanagimachi R. (2005), Male gamete contributions to the embryo, Annals of the New York Academy of Sciences, 1061, 203–207.
Yu J., Chen Z., Ni Y., Li Z. (2012), CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis, Human Reproduction, 27(1), 25-35.
Zhang H.G., Wang R.X., Pan Y., Zhu J.H., Xue L.T., Yang X., Liu R.Z. (2016), Translo-cation breakpoints of chromosome 4 in male carriers: clinical features and implications for genetic counseling, Genetics and Molecular Researches, 2, 15(4).
Zhang X., Zhang H., Hu C., Wang R., Xi Q., Liu R. (2017), Clinical features of carriers of reciprocal chromosomal translocation involving chromosome 2: report of nine cases and review of the literature, International Brazilian Journal of Urology, 11, 43.
Zhang H., Wang R., Li L., Jiang Y., Zhang H., Liu R. (2018), Clinical feature of infertile men carrying balanced translocations involving chromosome 10: Case series and a review of the literature, Medicine (Baltimore) 97(15), e0452.
Zhang H., Wang R., Li L., Zhu H., Zhang H., Liu R. (2018), Translocation breakpoints of chromosome 3 in male carriers: a report of twelve cases and a review of the literature, Turkish Journal of Medical Sciences, 48, 150-156.
Zhang H.G., Wang R.X., Pan Y., Zhang H., Li L.L., Zhu H.B., Liu R.Z. (2018), A report of nine cases and review of the literature of infertile men carrying balanced translocations involving chromosome 5, Molecular Cytogenetics, 25; 11, 10.
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Project http://www.genome.gov/25019879
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