Genetics and Reproduction

doi:10.1017/9781108881760.017

Chapter 16 - Genetics and Reproduction

from Section 3 - Genetics and Preimplantation Genetic Testing

Published online by Cambridge University Press: 05 March 2021

Edited by

Eliezer Girsh

Show author details

Eliezer Girsh: Affiliation:
Barzilai Medical Center, Ashkelon

Book contents

Get access

Summary

Our genetic information, sometimes described as the “Book of Life,” can be envisaged as a compilation containing two “sets” of information, with one originated from the female and the other from the male. Each set includes 23 “volumes” (chromosomes), and each of these chromosomes contains many “chapters and pages” (clusters of genes). Each gene encodes for a specific message to the cell cytoplasm, where ribosomes translate the codes to specific proteins. The genetic code is made up of combinations of three out of four possible essential nucleotides (A, T, G, and C). These nucleotides are the chemical molecules, components of deoxyribonucleic acid (DNA), creating the genetic information that can be further transcripted and translated by different cell types of machinery to produce the essential cellular proteins. A trinucleotide code (three basic nucleotides), called a codon, encodes a specific amino acid, a basic brick of protein structure.

Information

Type: Chapter
Information: A Textbook of Clinical Embryology , pp. 194 - 206

DOI: https://doi.org/10.1017/9781108881760.017 [Opens in a new window]

Publisher: Cambridge University Press

Print publication year: 2021

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Book purchase

Temporarily unavailable

References

Mau-Holzmann, UA. Somatic chromosomal abnormalities in infertile men and women. Cytogenet. Genome Res. 2005; 111:317–336.Google Scholar

Therman, E, Susman, B, Denniston, C. The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations. Ann. Hum. Genet. 1989; 53:49–65.Google Scholar

Kuroda-Kawaguchi, T, Skaletsky, H, Brown, LG, et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat. Genet. 2001; 29:279–286.Google Scholar

Sasagawa, I, Ishigooka, M, Kubota, Y, et al. Pericentric inversion of chromosome 9 in infertile men. Int. Urol. Nephrol. 1998; 30:203–207.Google Scholar

Royo, H, Polikiewicz, G, Mahadevaiah, SK, et al. Evidence that meiotic sex chromosome inactivation is essential for male fertility. Curr. Biol. 2010; 20:2117–2123.Google Scholar

Homolka, D, Jansa, P, Forejt, J. Genetically enhanced asynapsis of autosomal chromatin promotes transcriptional dysregulation and meiotic failure. Chromosoma 2011; 121:91–104.CrossRef Google Scholar PubMed

Neto, FTL, Bach, PV, Najari, BB, Li, PS, Goldstein, M. Genetics of male infertility. Curr. Urol. Rep. 2016;17:70–82. https://doi.org/10.1007/s11934-016–0627-x.CrossRef Google Scholar PubMed

Lissitsina, J, Mikelsaar, R, Punab, M. Cytogenetic analyses in infertile men. Arch. Androl. 2006; 52:91–95.Google Scholar

Balkan, M, Tekes, S, Gedik, A. Cytogenetic and Y chromosome microdeletion screening studies in infertile males with oligozoospermia and azoospermia in Southeast Turkey. J. Assist. Reprod. Genet. 2008; 25:559–565.Google Scholar

Rives, N, Joly, G, Machy, A, et al. Assessment of sex chromosome aneuploidy in sperm nuclei from 47,XXY and 46,XY/47,XXY males: comparison with fertile and infertile males with normal karyotype. Mol. Hum. Reprod. 2000; 6:107–112.Google Scholar

Mallepaly, R, Butler, PR, Herati, AS, Lamb, DJ. Genetic basis of male and female infertility. Monogr. Hum. Genet. 2017; 21:1–16.Google Scholar

Grynberg, M, Bidet, M, Benard, J, et al. Fertility preservation in Turner syndrome. Fertil. Steril. 2016; 105:13–19.CrossRef Google Scholar PubMed

Huang, H-L, Lv, C, Zhao, Y-C, et al. Mutant ZP1 in familial infertility. N. Engl. J. Med. 2014; 370:1220–1226.Google Scholar

Hassold, T, Hunt, P. To err (meiotically) is human: the genesis of human aneuploidy. Nat. Rev. Genet. 2001; 2:280–291.Google Scholar

Henderson, SA, Edwards, RG. Chiasma frequency and maternal age in mammals. Nature 1968; 218:22–28.Google Scholar

Angell, RR. Predivision in human oocytes at meiosis I: a mechanism for trisomy formation in man. Hum. Genet. 1991; 86:383–387.Google Scholar

Angell, RR, Xian, J, Keith, J, Ledger, W, Baird, DT. First meiotic division abnormalities in human oocytes: mechanism of trisomy formation. Cytogenet. Cell Genet. 1994; 65:194–202.Google Scholar

Pellestor, F, Andreo, B, Arnal, F, Humeau, C, Demaille, J. Maternal aging and chromosomal abnormalities: new data drawn from in vitro unfertilized human oocytes. Hum. Genet. 2003; 112:195–203.Google Scholar

Revenkova, E, Herrmann, K, Adelfalk, C, Jessberger, R. Oocyte cohesin expression restricted to predict stages provides full fertility and prevents aneuploidy. Curr. Biol. 2010; 20:1529–1533.Google Scholar

Reis, A, Madgwick, S, Chang, HY, et al. Prometaphase APC cdh1 activity prevents non-disjunction in mammalian oocytes. Nat. Cell Biol. 2007; 9:1192–1198.CrossRef Google Scholar PubMed

Lim, AS, Fong, Y, Yu, SL. Estimates of sperm sex chromosome disomy and diploidy rates in a 47,XXY/46,XY mosaic Klinefelter patient. Hum. Genet. 1999; 104:405–409.Google Scholar

Thomas, NS, Hassold, TJ. Aberrant recombination and the origin of Klinefelter syndrome. Hum. Reprod. Update 2003; 9:309–317.Google Scholar

Lenz, P, Luetjens, CM, Kamischke, A, et al. Mosaic status in lymphocytes of infertile men with or without Klinefelter syndrome. Hum. Reprod. 2005; 20:1248–1255.Google Scholar

Schiff, JD, Palermo, GD, Veeck, LL, et al. Success of testicular sperm extraction and intracytoplasmic sperm injection in men with Klinefelter syndrome. J. Clin. Endocrinol. Metab. 2005; 90:6263–6267.Google Scholar

Aksglaede, L. Natural history of seminiferous tubule degeneration in Klinefelter syndrome. Hum. Reprod. Update 2005; 12:39–48.Google Scholar

Ichioka, K, Utsunomiya, N, Kohei, N, et al. Adult onset of declining spermatogenesis in a man with nonmosaic Klinefelter’s syndrome. Fertil. Steril. 2006; 85:1511.e1–1511.e2.Google Scholar

Plotton, I, Giscard d’Estaing, S, Cuzin, B, et al. Preliminary results of a prospective study of testicular sperm extraction in young versus adult patients with nonmosaic 47,XXY Klinefelter syndrome. J. Clin. Endocrinol. Metab. 2015; 100:961–967.Google Scholar

Van Saen, D, Vloeberghs, V, Gies, I, et al. When does germ cell loss and fibrosis occur in patients with Klinefelter syndrome? Hum. Reprod. 2018; 33:1009–1022.Google Scholar

Van Saen, D, Pino Sánchez, J, Ferster, A, et al. Is the protein expression window during testicular development affected in patients at risk for stem cell loss? Hum. Reprod. 2015; 30:2859–2870.Google Scholar

Corona, G, Pizzocaro, A, Lanfranco, F, et al. Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis. Hum. Reprod. Update 2017; 23:265–275.Google Scholar

Ron-El, R, Raziel, A, Strassburger, D, et al. Birth of healthy male twins after intracytoplasmic sperm injection of frozen-thawed testicular spermatozoa from a patient with nonmosaic Klinefelter syndrome. Fertil. Steril. 2000; 74:832–833.Google Scholar

Friedler, S, Raziel, A, Strassburger, D, et al. Outcome of ICSI using fresh and cryopreserved-thawed testicular spermatozoa in patients with non-mosaic Klinefelter’s syndrome. Hum. Reprod. 2001; 16:2616–2620.Google Scholar

Estop, AM, Munne, S, Cieply, KM, et al. Meiotic products of a Klinefelter 47,XXY male as determined by sperm fluorescence in-situ hybridization analysis. Hum. Reprod. 1998; 13:124–127.Google Scholar

Maduro, MR, Lamb, DJ. Understanding new genetics of male infertility. J. Urol. 2002; 168:2197–2205.Google Scholar

Quinn, A, Koopman, P. The molecular genetics of sex determination and sex reversal in mammals. Semin. Reprod. Med. 2012; 30:351–363.CrossRef Google Scholar PubMed

Oates, RD. The genetic basis of male reproductive failure. Urol. Clin. North Am. 2008; 35:257–270, ix.CrossRef Google Scholar PubMed

Davis, JL, Kurek, JA, Morgan, JC, Sethi, KD. Tremor and dystonia in Jacob’s syndrome (47,XYY). Mov. Disord. Clin. Pract. 2019; 7:107–108.Google Scholar

Otter, M, Schrander-Stumpel, CT, Curfs, LM. Triple X syndrome: a review of the literature. Eur. J. Hum. Genet. 2010; 18:265–271.Google Scholar

Kosteria, I, Kanaka-Gantenbein, C. Turner syndrome: transition from childhood to adolescence. Metabolism 2018; 86:145–153.Google Scholar

Chandley, AC, Seuanez, H, Fletcher, JM. Meiotic behavior of five human reciprocal translocations. Cytogenet. Cell Genet. 1976; 17:98–111.Google Scholar

Elliott, DJ, Cooke, HJ. The molecular genetics of male infertility. Bioessays 1997; 19:801–809.Google Scholar

Estop, AM, Van Kirk, V, Cieply, K. Segregation analysis of four translocations, t(2;18), t(3;15), t(5;7), and t(10;12), by sperm chromosome studies and a review of the literature. Cytogenet. Cell Genet. 1995; 70:80–87.CrossRef Google Scholar

Cifuentes, P, Navarro, J, Blanco, J, et al. Cytogenetic analysis of sperm chromosomes and sperm nuclei in a male heterozygous for a reciprocal translocation t(5;7)(q21;q32) by in situ hybridisation. Eur. J. Hum. Genet. 1999; 7:231–238.Google Scholar

Alves, C, Carvalho, F, Cremades, N, Sousa, M, Barros, A. Unique (Y;13) translocation in a male with oligozoospermia: cytogenetic and molecular studies. Eur. J. Hum. Genet. 2002; 10:467–474.Google Scholar

Ferguson, KA, Chow, V, Ma, S. Silencing of unpaired meiotic chromosomes and altered recombination patterns in an azoospermic carrier of a t(8;13) reciprocal translocation. Hum. Reprod. 2008; 23:988–995.CrossRef Google Scholar

Guo, JH, Zhu, PY, Huang, YF, Yu, L. Autosomal aberrations associated with testicular dysgenesis or spermatogenic arrest in Chinese patients. Asian J. Androl. 2002; 4:3–7.Google Scholar

Gunel, M, Cavkaytar, S, Ceylaner, G, Batioglu, S. Azoospermia and cryptorchidism in a male with a de novo reciprocal t(Y;16) translocation. Genet. Couns. 2008; 19:277–280.Google Scholar

Pabst, B, Glaubitz, R, Schalk, T, et al. Reciprocal translocation between Y chromosome long arm euchromatin and the short arm of chromosome 1. Ann. Genet. 2002; 45:5–8.CrossRef Google Scholar PubMed

Mohandas, TK, Speed, RM, Passage, MB, et al. Role of the pseudo-autosomal region in sex chromosome pairing during male meiosis: meiotic studies in a man with a deletion of distal Xp. Am. J. Hum. Genet. 1992; 51:526–533.Google Scholar

Ellison, JW, Wardak, Z, Young, MF, et al. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum. Mol. Genet. 1997; 6:1341–1347.CrossRef Google Scholar PubMed

Rao, E, Weiss, B, Fukami, M, et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat. Genet. 1997; 16:54–63.Google Scholar

Poongothai, J, Gopenath, TS, Manonayaki, S. Genetics of human male infertility. Singapore Med. J. 2009; 50:336–347.Google Scholar

Kamp, C, Huellen, K, Fernandes, S, et al. High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. Mol. Hum. Reprod. 2001; 7:987–994.CrossRef Google Scholar PubMed

Krausz, C, Forti, G, McElreavey, K. The Y chromosome and male fertility and infertility. Int. J. Androl. 2003; 26:70–75.CrossRef Google Scholar

Dada, R, Gupta, NP, Kucheria, K. Yq microdeletions--azoospermia factor candidate genes and spermatogenic arrest. J. Biomol. Tech. 2004; 15:176–183.Google Scholar PubMed

Walsh, TJ, Pera, RR, Turek, PJ. The genetics of male infertility. Semin. Reprod. Med. 2009; 27:124–136.Google Scholar

Krausz, C, Quintana-Murci, L, McElreavey, K. Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis? Hum. Reprod. 2000; 15:1431–1434.CrossRef Google Scholar PubMed

Lekovich, J, Man, L, Xu, K, et al. CGG repeat length and AGG interruptions as indicators of fragile X-associated diminished ovarian reserve. Genet. Med. 2017; 20:957–964.Google Scholar

Karimov, CB, Moragianni, VA, Cronister, A, et al. Increased frequency of occult fragile X-associated primary ovarian insufficiency in infertile women with evidence of impaired ovarian function. Hum. Reprod. 2011; 26:2077–2083.Google Scholar

Crawford, DC, Acuña, JM, Sherman, SL. FMR1 and the fragile X syndrome: human genome epidemiology review. Genet. Med. 2001; 3:359–371.Google Scholar

Elizur, SE, Lebovitz, O, Derech-Haim, S, et al. Elevated levels of FMR1 mRNA in granulosa cells are associated with low ovarian reserve in FMR1 premutation carriers. PLoS One 2014; 9:e105121.CrossRef Google Scholar PubMed

Gustin, SE, Hogg, K, Stringer, JM, et al. WNT/β-catenin and p27/FOXL2 differentially regulate supporting cell proliferation in the developing ovary. Dev. Biol. 2016; 412:250–260.Google Scholar

Carrell, DT, De Jonge, C, Lamb, DJ. The genetics of male infertility: a field of study whose time is now. Arch. Androl. 2006; 52: 269–274.CrossRef Google Scholar PubMed

Radpour, R, Gourabi, H, Gilani, MA, Dizaj, AV. Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens. J. Androl. 2007; 28:541–547.Google Scholar

Practice Committee of American Society for Reproductive Medicine in collaboration with Society for Male Reproduction and Urology. Evaluation of the azoospermic male. Fertil. Steril. 2008; 90:S74–S77.Google Scholar

Arnedo, N, Nogues, C, Bosch, M, Templado, C. Mitotic and meiotic behaviour of a naturally transmitted ring Y chromosome: reproductive risk evaluation. Hum. Reprod. 2005; 20:462–468.Google Scholar

Stouffs, K, Tournaye, H, Liebaers, I, Lissens, W. Male infertility and the involvement of the X chromosome. Hum. Reprod. Update 2009; 15:623–637.Google Scholar

Galani, A, Kitsiou-Tzeli, S, Sofokleous, C, Kanavakis, E, Kalpini-Mavrou, A. Androgen insensitivity syndrome: clinical features and molecular defects. Hormones (Athens) 2008; 7:217–229.Google Scholar

Hiort, O, Holterhus, PM, Horter, T, et al. Significance of mutations in the androgen receptor gene in males with idiopathic infertility. J. Clin. Endocrinol. Metab. 2000; 85:2810–2815.Google Scholar

Mifsud, A, Sim, CK, Boettger-Tong, H, et al. Trinucleotide (CAG) repeat polymorphisms in the androgen receptor gene: molecular markers of risk for male infertility. Fertil. Steril. 2001; 75:275–281.Google Scholar

Sharma, V, Singh, R, Thangaraj, K, Jyothy, A. A novel Arg615Ser mutation of androgen receptor DNA-binding domain in three 46,XY sisters with complete androgen insensitivity syndrome and bilateral inguinal hernia. Fertil. Steril. 2011; 95:804.e19–804.e21.Google Scholar

Yuan, S, Meng, L, Zhang, Y, et al. Genotype-phenotype correlation and identification of two novel SRD5A2 mutations in 33 Chinese patients with hypospadias. Steroids 2017; 125:61–66.Google Scholar

Li, SP, Li, LW, Sun, MX, et al. Identification of a novel mutation in the SRD5A2 gene of one patient with 46,XY disorder of sex development. Asian J. Androl. 2018; 20:518–519.Google Scholar

La Vignera, S, Calogero, AE, Condorelli, R, et al. Cryptorchidism and its long-term complications. Eur. Rev. Med. Pharmacol. Sci. 2009; 13:351–356.Google Scholar

Caroppo, E, Niederberger, C, Elhanbly, S, et al. Effect of cryptorchidism and retractile testes on male factor infertility: a multicenter, retrospective, chart review. Fertil. Steril. 2005; 83:1581–1584.Google Scholar

Ferlin, A, Zuccarello, D, Garolla, A, Selice, R, Foresta, C. Hormonal and genetic control of testicular descent. RBM Online 2007; 15:659–665.Google Scholar PubMed

Kerr, CL, Cheng, L. The dazzle in germ cell differentiation. J. Mol. Cell. Biol. 2010; 2:26–29.Google Scholar

Albuisson, J, Pecheux, C, Carel, JC, et al. Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). Hum. Mutat. 2005; 25:98–99.Google Scholar

Trarbach, EB, Baptista, MT, Garmes, HM, Hackel, C. Molecular analysis of KAL-1, GnRH-R, NELF and EBF2 genes in a series of Kallmann syndrome and normosmic hypogonadotropic hypogonadism patients. J. Endocrinol. 2005; 187:361–368.Google Scholar

Dodé, C, Teixeira, L, Levilliers, J, et al. Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genet. 2006; 2(10):e175. doi:10.1371/journal.pgen.0020175.Google Scholar

Accessibility standard: Unknown

Why this information is here

This section outlines the accessibility features of this content - including support for screen readers, full keyboard navigation and high-contrast display options. This may not be relevant for you.

Accessibility Information

Accessibility compliance for the HTML of this chapter is currently unknown and may be updated in the future.