References
- 1. Meschede D, Lemcke B, Behre HM et al. Clustering of male infertility in the families of couples treated with intracytoplasmic sperm injection. Hum Reprod 2000, 15(7):1604-1608.
- 2. Zorrilla M & Yatsenko AN. The genetics of infertility: current status of the field. Curr Genet Med Rep. 2013, 1, 247-260.
- 3. Behre HM, Bergmann M, Simoni M et al. Source Endotext [Internet]. South Dartmouth (MA): MDText.com, p. 2000, 2015.
- 4. Bashamboo A, Ferraz-de-Souza B, Lourenço D et al. Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. Am. J. Hum. Genet. 2010, 87, 505-512.
- 5. Ferlin A, Rocca MS, Vinanzi C et al. Mutational screening of NR5A1 gene encoding steroidogenic factor 1 in cryptorchidism and male factor infertility and functional analysis of seven undescribed mutations. Fertil Steril. 2015, 104, 163. e1-169.e1.
- 6. Lopes AM, Aston KI, Thompson E et al. Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1. PLoS Genet. 2013, 9, e1003349.
- 7. Yatsenko AN, Georgiadis AP, Röpke A et al. X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men. N Engl. J Med. 2015, 372, 2097-2107.
- 8. Borgmann J, Tüttelmann F, Dworniczak B et al. The human RHOX gene cluster: target genes and functional analysis of gene variants in infertile men. Hum. Mol. Genet. 2016, 25, 4898-4910.
- 9. Hughes JF, Skaletsky H, Koutseva N et al. Sex chromosometo-autosome transposition events counter Y-chromosome gene loss in mammals. Genome Biol. 2015, 16, 104.
- 10. Charlesworth D, Charlesworth B. Sex chromosomes: evolution of the weird and wonderful. Curr Biol. 2005, 15, R129-R131. (doi:10.1016/j.cub.2005.02.011)
- 11. Lyon M. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature. 1961, 190, 372-373.
- 12. Kalantry S, Purushothaman S, Bowen RB et al. Evidence of Xist RNA-independent initiation of mouse imprinted X-chromosome inactivation. Nature. 2009, 460, 647-651.
- 13. Barr M, Bertram E. A morphological distinction between neurones of the male and female, and the behaviour of the nucleolar satellite during accelerated nucleoprotein synthesis. Nature. 1949, 163, 676.
- 14. Disteche CM. Escape from X inactivation in human and mouse. Trends Genet. 1995, 11, 17-22.
- 15. Burgoyne PS. Genetic homology and crossing over in the X and Y chromosomes of Mammals. Hum. Genet. 1982, 61, 85-90.
- 16. Polani PE. Pairing of X and Y chromosomes, non-inactivation of X-linked genes, and the maleness factor. Hum. Genet. 1982, 60, 207-211.
- 17. Helena Mangs A, Morris BJ. The human pseudoautosomal region (PAR): origin, function and future. Curr Genomics. 2007, 8, 129-136.
- 18. Tjio JH, Levan A. The chromosome number of man. Hereditas. 1956, 42, 1-6.
- 19. Jacobs PA, Strong JA. A case of human intersexuality having possible XXY sex-determining mechanism. Nature. 1959, 183, 302-303.
- 20. Rives N, Simeon N, Milazzo JP et al. Meiotic segregation of sex chromosomes in mosaic and non-mosaic XYY males: case reports and review of the literature. Int J Androl. 2003, 26, 242-249.
- 21. Otter M, Schrander-Stumpel CTRM, Curfs LMG. Triple X syndrome: a review of the literature. Eur J Hum Genet. 2010, 18, 265-271.
- 22. Kim IW, Khadilkar AC, Ko EY, Sabanegh ES. 47,XYY syndrome and male infertility. Rev Urol. 2013, 15(4):188-196.
- 23. Charlesworth B, Charlesworth D. The degeneration of Y chromosomes. Phil. Trans. R. Soc. Lond. B. 2000, 355, 1563-1572.
- 24. Heard E, Turner J. Function of the sex chromosomes in mammalian fertility. Cold Spring Harb Perspect Biol. 2011, 3(10):a002675.
- 25. Assche E Van, Bonduelle M, Tournaye H et al I. Cytogenetics of infertile men. Hum Reprod. 1996, 11 (Supplement 4):1-24.
- 26. Ma S, Yuen BH, Penaherrera M et al. ICSI and the transmission of X-autosomal translocation: a threegeneration evaluation of X;20 translocation: case report. Hum Reprod. 2003, 18(7):1377-1382.
- 27. Röpke A, Stratis Y, Dossow-Scheele D et al. Mosaicism for an unbalanced Y;21 translocation in an infertile man: a case report. J Assist Reprod Genet. 2013, 30(12):1553-1558.
- 28. Redon R, Ishikawa S, Fitch KR et al. Global variation in copy number in the human genome. Nature. 2006, 444, 444-454.
- 29. McPhaul MJ, Marcelli M, Zoppi S et al. Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene. J Clin Invest. 1992, 90, 2097-2101.
- 30. Spada AR La, Wilson EM, Lubahn DB et al. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 1991; 352: 77-79.
- 31. Röpke A, Allhoff E, Wieacker P. Mutationen des androgenrezeptor-gens als mögliche ursache der antiandrogenresistenz beim prostatakarzinom. Journal of Reproductive Medicine and Endocrinology 2004, 1(3):194-201.
- 32. McCrea E, Sissung TM, Price DK et al. Androgen receptor variation affects prostate cancer progression and drug resistance. Pharmacol Res. 2016, 114, 152-162.
- 33. Wilson JD, Harrod MJ, Goldstein JL et al. Familial incomplete male pseudohermaphroditism, type 1. Evidence for androgen resistance and variable clinical manifestations in a family with the Reifenstein syndrome. N Engl. J Med. 1974, 290, 1097-1103.
- 34. Brinkmann AO. Molecular basis of androgen insensitivity. Mol Cell Endocrinol. 2001, 179(1-2):105-109.
- 35. Gao T, Marcelli M, McPhaul MJ. Transcriptional activation and transient expression of the human androgen receptor. J Steroid Bioch Mol Biol. 1996, 59(1):9-20.
- 36. Pan B, Li R, Chen Y et al. Genetic association between androgen receptor gene CAG repeat length polymorphism and male infertility: a meta-analysis. Medicine. 2016, 95, e2878. (doi:10.1097/MD.0000000000002878)
- 37. Meyts ERD, Leffers H, Petersen JH et al. CAG repeat length in androgen-receptor gene and reproductive variables in fertile and infertile men. Lancet. 2002, 359, 44-46.
- 38. Ferlin A, Bartoloni L, Rizzo G et al. Androgen receptor gene CAG and GGC repeat lengths in idiopathic male infertility. Mol Hum Reprod. 2004, 10, 417-421.
- 39. Ruhayel Y, Lundin K, Giwercman Y et al. Androgen receptor gene GGN and CAG polymorphisms among severely oligozoospermic and azoospermic Swedish men. Hum Reprod. 2004, 19, 2076-2083.
- 40. Adelman CA, Petrini JHJ. ZIP4H (TEX11) deficiency in the mouse impairs meiotic double strand break repair and the regulation of crossing over. PLoS Genet. 2008, 4, e1000042. (doi:10.1371/journal.pgen.1000042)
- 41. Richardson EM, Bleiziffer A, Tuttelmann F et al. Epigenetic regulation of the RHOX homeobox gene cluster and its association with human male infertility. Hum Mol Genet. 2014, 23(1):12-23
- 42. Busada JT, Velte EK, Serra N et al. Rhox13 is required for a quantitatively normal first wave of spermatogenesis in mice. Reproduction. 2016, 152(5):379-388.
- 43. Song WH, Bettegowda A, Lake BB et al. The Homeobox Transcription Factor RHOX10 Drives Mouse Spermatogonial Stem Cell Establishment. Cell Rep. 2016, 17(1):149-164