Abstract
The Y chromosome has been a very rich area for beginning the study of the genetic control of spermatogenesis. The Y chromosome contains 60 multicopy genes composed of 9 different gene families concentrated in regions of multiple repeat sequences called amplicons arranged in mirror images called palindromes. It contains many testis-specific spermatogenesis genes. This very complicated pattern is susceptible to deletions caused by homologous recombination with itself and can explain the presence of small numbers of sperm in otherwise azoospermic men. It is also the beginning of understanding the genetic control of spermatogenesis.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M et al (1995) Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 10:383–393
Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH et al (2001) The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 29:279–286
Silber SJ, Alagappan R, Brown LG, Page DC (1998) Y chromosome deletions in azoospermic and severely oligozoospermmic men undergoing intracytoplasmic sperm injection after testicular sperm extraction. Hum Reprod 13:3332–3337
Silber SJ, Repping R (2002) Transmission of male infertility to future generations: lessons from the Y chromosome. Hum Reprod 8:217–229
Page DC, Silber S, Brown LG (1999) Men with infertility caused by AZFc deletion can produce sons by intracytoplasmic sperm injection, but are likely to transmit the deletion and infertility. Hum Reprod 14:1722–1726
Saxena R, Brown LG, Hawkins T, Alagappan RK, Skaletsky H, Reeve MP et al (1996) The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Nat Genet 14:292–299
Saxena R, de Vries JW, Repping S, Alagappan RK, Skaletsky H, Brown LG et al (2000) Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. Genomics 67:256–267
Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG et al (2003) The malespecific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423:825–837
Oates RD, Silber S, Brown LG, Page DC (2002) Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI. Hum Reprod 11:2813–2824
Silber SJ, Page DC, Brown LG, Oates R (2001) ICSI results with and without Y chromosomal deletions in men with severe oligozoospermia and azoospermia. 57th Annual Meeting of the ASRM, Orlando, Florida, 2001. Abstract P-83
Silber SJ, Rodriguez-Rigau LJ (1981) Quantitative analysis of testicle biopsy: determination of partial obstruction and prediction of sperm count after surgery for obstruction. Fertil Steril 36:480–485
Devroey P, Liu J, Nagy Z, Tournaye H, Silber SJ, van Steirteghem AC (1994) Normal fertilization of human oocytes after testicular sperm extraction and intracytoplasmic sperm injection. Fertil Steril 62:639–641
Silber SJ, van Steirteghem A, Nagy Z, Liu J, Tournaye H, Devroey P (1996) Normal pregnancies resulting from testicular sperm extraction and intracytoplasmic sperm injection for azoospermia due to maturation arrest. Fertil Steril 66:110–117
Lahn BT, Page DC (1997) Functional coherence of the human Y chromosome. Science 278:675–680
Lahn BT, Page DC (1999b) Retroposition of autosomal mRNA yielded testis-specific gene family on human Y chromosome. Nat Genet 21:429–433
Lange J, Skaletsky H, van Daalen SKM, Embry SL, Korver CM, Brown LG et al (2009) Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes. Cell 138:855–869
Rodriguez-Rigau LJ, Smith KD, Steinberger E (1978) Relationship of varicocele to sperm output and fertility of male partners in infertile couples. J Urol 120:691–694
Nilsson S, Edvinsson A, Nilsson B (1979) Improvement of semen and pregnancy rate after ligation and division of the internal spermatic vein: fact or fiction? Br J Urol 51(6):591
Baker HW, Burger HG, de Kretser DM, Lording DW, McGowan P, Rennie GC (1981) Factors affecting the variability of semen analysis results in infertile men. Int J Androl 4:609–622
Baker HW, Straffon WG, McGowan MP, Burger HG, de Kretser DM, Hudson B (1985) A controlled trial of the use of erythromycin for men with asthenospermia. Int J Androl 7:383–388
Baker HW, Burger HG, de Kretser DM, Hudson B, Rennie GC, Straffon WG (1985) Testicular vein ligation and fertility in men with varicoceles. Br Med J 291:1678–1680
Schoysman R, Gerris J (1983) Twelve-year follow-up study of pregnancy rates in 1291 couples with idiopathically impathically impaired male fertility. Acta Eur Fertil 14:51–56
Baker HW, Kovacs GT (1985) Spontaneous improvement in semen quality: regression toward the mean. Int J Androl 8:421–426
Baker HW (1986) Requirements for controlled therapeutic trials in male infertility. Clin Reprod Fertil 4:13–25
Vermeulen A, Vandeweghe M, Desylpere JP (1986) Prognosis of subfertility in men with corrected or uncorrected varicocele. J Androl 7:147–155
Silber SJ (1989) The relationship of abnormal semen parameters to male fertility. Hum Reprod 4:947–953
Silber SJ (2001) The varicocele dilemma. Hum Reprod Update 7:70–77
Nieschlag E, Hertle L, Fischedick A, Behre HM (1995) Treatment of varicocele: counselling as effective as occlusion of the vena spermatica. Hum Reprod 10:347–353
Nieschlag E, Hertle L, Fischedick A, Abshagen K, Behre HM (1998) Update on treatment of varicocele: counselling as effective as occlusion of the vena spermatica. Hum Reprod 13:2147–2150
Devroey P, Vandervorst M, Nagy P, van Steirteghem A (1998) Do we treat the male or his gamete? Hum Reprod 13:178–185
Palermo G, Joris H, Devroey P, van Steirteghem AC (1992) Pregnancies after intracytoplasmic injection of single spermatozoon into an oocyte. Lancet 340:17–18
van Steirteghem AC, Nagy Z, Joris H, Liu J, Staessen C, Smitz J et al (1993) High fertilization and implantation rates after intracytoplasmic sperm injection. Hum Reprod 8:1061–1066
Liu J, Nagy Z, Joris H, Tournaye H, Devroey P, van Steirteghem AC (1994) Intracytoplasmic sperm injection does not require special treatment of the spermatozoa. Hum Reprod 9:112730
Liu J, Nagy Z, Joris H, Tournaye H, Smitz J, Camus M et al (1995) Analysis of 76 total fertilization failure cycles out of 2732 intracytoplasmic sperm injection cycles. Hum Reprod 10:2630–2636
Nagy ZP, Liu J, Joris H, Verheyen G, Tournaye H, Camus M et al (1995) The result of intracytoplasmic sperm injection is not related to any of the three basic sperm parameters. Hum Reprod 10:1123–1129
Devroey P, Silber S, Nagy Z, Liu J, Tournaye H, Joris H et al (1995) Ongoing pregnancies and birth after intracytoplasmic sperm injection with frozenthawed epididymal spermatozoa. Hum Reprod 10:903–906
Silber SJ, Nagy ZP, Liu J, Godoy H, Devroey P, van Steirteghem AC (1994) Conventional in-vitro fertilization versus intracytoplasmic sperm injection for patients requiring microsurgical sperm aspiration. Hum Reprod 9:1705–1709
Silber SJ, van Steirteghem AC, Liu J, Nagy Z, Tournaye H, Devroey P (1995) High fertilization and pregnancy rate after intracytoplasmic sperm injection with spermatozoa obtained from testicle biopsy. Hum Reprod 10:148–152
Silber SJ, Nagy Z, Liu J, Tournaye H, Lissens W, Ferec C et al (1995) The use of epididymal and testicular spermatozoa for intracytoplasmic sperm injection: the genetic implications for male infertility. Hum Reprod 10:2031–2043
Steinberger E, Tjioe DY (1968) A method for quantitative analysis of human seminiferous epithelium. Fertil Steril 19:959–961
Clermont Y (1972) Kinetics of spermatogenesis in mammals: seminiferous epithelium cycle and spermatogonial renewal. Physiol Rev 52:198–236
Zukerman Z, Rodriguez-Rigau LJ, Weiss DB, Chowdhury AK, Smith KD (1978) Quantitative analysis of the seminiferous epithelium in human testicular biopsies, and the relation of spermatogenesis to sperm density. Fertil Steril 30:448–455
Silber SJ, van Steirteghem AC, Devroey P (1995c) Sertoli cell only revisited. Hum Reprod 10:1031–1032
Silber SJ, Nagy Z, Devroey P, Tournaye H, van Steirteghem AC (1997) Distribution of spermatogenesis in the testicles of azoospermic men: the presence or absence of spermatids in the testes of men with germinal failure. Hum Reprod 12:2422–2428
Silber SJ, Nagy Z, Devroey P, Camus M, van Steirteghem AC (1997) The effect of female age and ovarian reserve on pregnancy rate in male infertility: treatment of azoospermia with sperm retrieval and intracytoplasmic sperm injection. Hum Reprod 12:2693–2700
Silber SJ (2000) Microsurgical TESE and the distribution of spermatogenesis in nonobstructive azoospermia. Hum Reprod 15:2278–2284
Silber SJ (1998) Intracytoplasmic sperm injection today: a personal review. Hum Reprod 13:208–218
Silber SJ (1998b) The cure and proliferation of male infertility. J Urol 160:2072–2073
Faddy MJ, Silber SJ, Gosden RG (2001) Intra-cytoplasmic sperm injection and infertility. Nat Genet 29:131
O’Brien SJ, Wildt DE, Bush M (1986) The cheetah in genetic peril. Sci Am 254:84–92
O’Brien SJ, Wildt DE, Bush M, Caro TM, FitzGibbon C, Aggundey I et al (1987) East African cheetahs: evidence for two population bottlenecks? Proc Natl Acad Sci U S A 84:508–511
Short RV (1995) Human reproduction in an evolutionary context. Ann N Y Acad Sci 709:416–425
Jacobs PA, Strong JA (1959) A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 183:302–303
Kjessler B (1966) Karyotype, meiosis and spermatogenesis in a sample of men attending an infertility clinic. Monogr Hum Genet 2:1–93
Olson SD, Magenis RE (1998) Preferential paternal origin of de novo structural rearrangements. In: Daniel A (ed) The cytogenetics of mammalian autosomal rearrangements. Alan R. Liss, New York, pp 583–599
Jacobs PA, Browne C, Gregson N, Joyce C, White H (1992) Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. J Med Genet 29:103–108
Bonduelle M, Legein J, Derde MP, Buysse A, Schietecatte J, Wisanto A et al (1995) Comparative follow-up study of 130 children born after intracytoplasmic sperm injection and 130 children born after in-vitro fertilization. Hum Reprod 10:3327–3331
Bonduelle M, Wilikens AA (1998) Prospective follow-up study of 1,987 children born after intracytoplasmic sperm injection (ICSI). In: Filicori M, Flamigni C (eds) Treatment of infertility: the new frontiers. Communications Media for Education, Princeton, pp 445–461
Bonduelle M, Aytoz A, van Assche E, Devroey P, Liebaers I, van Steirteghem A (1998) Incidence of chromosomal aberrations in children born after assisted reproduction through intracytoplasmic sperm injection. Hum Reprod 13:781–782
Bonduelle M, Camus M, de Vos A, Staessen C, Tournaye H, van Assche E et al (1999) Seven years of intracytoplasmic sperm injection and follow-up of 1987 subsequent children. Hum Reprod 14:243–264
Bonduelle M, Deketelaere V, Liebaers I, Buysse A, Devroey P, van Steirteghem A. Pregnancy outcome after ICSI: a cohort study of 2995 IVF children and 2899 ICSI children. Hum Reprod 2001;16. Abstr. Bk. 1:O-099.
van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P et al (1996) Cytogenetics of infertile men. Hum Reprod 11:1–24
Tuerlings JH, de France HF, Hamers A, Hordijk R, van Hemel JO, Hansson K et al (1998) Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience. Eur J Hum Genet 6:194–200
Egozcue S, Blanco J, Vendrell JM, Garcia F, Veiga A, Aran B et al (2000) Human male infertility: chromosome anomalies, meiotic disorders, abnormal spermatozoa and recurrent abortion. Hum Reprod Update 6:93–105
Chandley A (1979) The chromosomal basis of human infertility. Br Med Bull 35:181–186
Tournaye H, Staessen C, Liebars I, van Assche E, Devroey P, Bonduelle M et al (1996) Testicular sperm recovery in nine 47, XXY Klinefelter patients. Hum Reprod 11:1644–1649
Schiff JD, Palermo GD, Veeck LL, Goldstein M, Rosenwaks Z, Schlegel PN (2005) Success of testicular sperm extraction [corrected] and intracytoplasmic sperm injection in men with Klinefelter syndrome. J Clin Endocrinol Metab 90:6263–6267
Tiepolo L, Zuffardi O (1976) Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 34:119–124
Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F et al (1996) Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 5:933–943
Reijo R, Alagappan RK, Patrizio P, Page DC (1996) Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet 347:1290–1293
Ma K, Sharkey A, Kirsch S, Vogt P, Keil R, Hargreave TB et al (1992) Toward the molecular localization of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Hum Mol Genet (1):29–33
Bhasin S, de Kretser DM, Baker HW (1994) Pathophysiology and natural history of male infertility. J Clin Endocrinol Metab 79:1525–1529
Kent-First MG, Kol S, Muattem A, Ofir R, Manor D, Blazer S et al (1996) The incidence and possible relevance of Y-linked microdeletions in babies born after intracytoplasmic sperm injection and their infertile fathers. Mol Hum Reprod 2:943–950
Kent-First M, Muallem A, Shulz J, Pryor J, Roberts K, Nolten W et al (1999) Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y-chromosome microdeletion detection. Mol Reprod Dev 53:27–41
Morris RS, Gleicher N (1996) Genetic abnormalities, male infertility, and ICSI. Lancet 347:1277
Najmbadi H, Huang V, Yen P, Subbarao MN, Bhasin D, Banaag L et al (1996) Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy. J Clin Endocrinol Metab 81:1347–1352
Nakahori Y, Kuroki Y, Komake R, Kondoh N, Maniki M, Iwamoto T et al (1996) The Y chromosome region essential for spermatogenesis. Horm Res 46:20–23
Prosser J, Inglis JD, Condie A, Ma K, Kerr S, Thakrar R et al (1996) Degeneracy in human multicopy RBM (YRRM), a candidate spermatogenesis gene. Mamm Genome 7:835–842
Qureshi SJ, Ross AR, Ma K, Cooke HJ, Intyre MA, Chandley AC et al (1996) Polymerase chain reaction screening for Y chromosome microdeletions: a first step toward the diagnosis of genetically-determined spermatogenic failure in men. Mol Hum Reprod 2:775–779
Vogt PH, Affara N, Davey P, Hammer M, Jobling MA, Lau YF et al (1997) Report of the Third International Workshop on Y Chromosome Maping 1997. Cytogenet Cell Genet 79:1–20
Elliott DJ, Millar MR, Oghene K, Ross A, Kiesewetter F, Pryor J et al (1997) Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm. Proc Natl Acad Sci U S A 94:3848–3853
Elliott DJ, Cooke HJ (1998) Y chromosome microdeletions and male infertility. Hum Fertil 1:64–68
Girardi SK, Mielnik A, Schlegel PN (1997) Submicroscopic deletions in the Y chromosome of infertile men. Hum Reprod 2:1635–1641
Kremer JA, Tuerlings JH, Meuleman EJ, Schoute F, Mariman E, Smeets DF et al (1997) Microdeletions of the Y chromosome and intracytoplasmic sperm injection: from genet to clinic. Hum Reprod 12:687–691
Kremer JA, Tuerlings JH, Borm G, Hoefsloot LH, Meuleman EJ, Braat DD et al (1998) Does intracytoplasmic sperm injection lead to a rise in the frequency of microdeletions in the AZFc region of the Y chromosome in future generations? Hum Reprod 13:2808–2811
Mulhall JP, Reijo R, Alagappan R, Brown L, Page D, Carson R et al (1997) Azoospermic men with deletion of the DAZ gene cluster are capable of completing spermatogenesis: fertilization, normal embryonic development and pregnancy occur when retrieved testicular spermatozoa are used for intracytoplasmic sperm injection. Hum Reprod 12:503–508
Pryor JL, Kent-First M, Muallem A, van Bergen AH, Nolten WE, Meisner L et al (1997) Microdeletions in the Y chromosome of infertile men. N Engl J Med 336:534–539
van der Ven K, Montag M, Peschka B, Leygraaf J, Schwanitz G, Haidl G et al (1997) Combined cytogenetic and Y chromosome microdeletion screening in males undergoing intracytoplasmic sperm injection. Mol Hum Reprod 3:699–704
Vereb M, Agulnik AI, Houston JT, Lipschultz LI, Lamb DJ, Bishop CE (1997) Absence of DAZ gene mutations in cases of nonobstructed azoospermia. Mol Hum Reprod 3:55–59
Chai NN, Zhhou H, Hernandez J, Najmabadi H, Bhasin S, Yen PH (1998) Structure and organization of the RBMY genes on the human Y chromosome: transposition and amplification of an ancestral autosomal hnRNPG gene. Genomics 49:283–289
Grimaldi P, Scarponi C, Rossi P, March MR, Fabbri A, Isidori A et al (1998) Analysis of Yq microdeletions in infertile males by PCR and DNA hybridization techniques. Mol Hum Reprod 4:1116–1121
Oliva R, Margarit E, Ballesca JL, Carrio A, Sanchez A, Mila M et al (1998) Prevalence of Y chromosome microdeletions in oligospermic and azoospermic candidates for intracytoplasmic sperm injection. Fertil Steril 70:506–510
Stuppia L, Gatta V, Calabrese G, Guanciali FP, Morizio E, Bombieri C et al (1998) A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11. Hum Genet 102:566–570
Chang PL, Sauer MV, Brown S (1999) Y chromosome microdeletion in a father and his four infertile sons. Hum Reprod 14:2689–2694
Kim SW, Kim KD, Paick JS (1999) Microdeletions within the azoospermia factor subregions of the Y chromosome in patients with idiopathic azoospermia. Fertil Steril 72:349–353
Krausz C, Bussani-Mastellone C, Granchi S, McElreavey K, Scarselli G, Forti G (1999) Screening for microdeletions of Y chromosome genes in patients undergoing intracytoplasmic sperm injection. Hum Reprod 14:1717–1721
Seifer I, Amat S, Delgado-Viscogliosi P, Boucher D, Bignon YJ (1999) Screening for microdeletions on the long arm of chromosome Y in 53 infertile men. Int J Androl 22:148–154
Cram DS, Ma K, Bhasin S, Arias J, Pandjaitan M, Chu B et al (2000) Y chromosome analysis of infertile men and their sons conceived through intracytoplasmic sperm injection: vertical transmission of deletions and rarity of de novo deletions. Fertil Steril 74:909–915
van Landuyt L, Lissens W, Stouffs K, Tournaye H, Liebaers I, van Steirteghem A (2000) Validation of a simple Yq deletion screening programme in an ICSI candidate population. Mol Hum Reprod 6:291–297
Krausz C, McElreavey K (2001) Y chromosome microdeletions in “fertile” males. Hum Reprod 16:1306–1307
van Golde RJ, Wetzels AM, de Graaf R, Tuerlings JH, Braat DD, Kremer JA (2001) Decreased fertilization rate and embryo quality after ICSI in oligozoospermic men with microdeletions in the Azoospermia Factor c region of the Y chromosome. Hum Reprod 16:289–292
Brown GM, Furlong RA, Sargent CA, Erickson RP, Longepied G, Mitchell M et al (1998) Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y chromosome of the Dffry gene. Hum Mol Genet 7:97–107
Sargent CA, Boucher CA, Kirsch S, Brown G, Weiss B, Trundley A et al (1999) The critical region of overlap definings the AZFa male infertility interval of proximal Yq contains three transcribed sequences. J Med Genet 36:670–677
Sun C, Skaletsky H, Birren B, Devon K, Tang Z, Silber S et al (1999) An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. Nat Genet 23:429–432
Sun C, Skaletsky H, Rozen S, Gromoll J, Niesclag E, Oates R et al (2000) Deletion of Azoospermia Factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. Hum Mol Genet 9:2291–2296
Repping S, Skaletsky H, Lange J, Silber S, van der Veen F, Oates RD et al (2002) Recombination between palindromes P5 to P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet 71:906–922
Brandell RA, Mielnik A, Liotta D, Ye Z, Veeck LL, Palermo GD et al (1998) AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test. Hum Reprod 13:2812–2815
Martinez MC, Bernabe MJ, Gomez E, Ballesteros A, Landers J, Glover G et al (2000) Screening for AZF deletion in a large series of severely impaired spermatogenesis patients. J Androl 21:651–655
Ma K, Inglis JD, Sharkey A, Bickmore WA, Hill RE, Prosser EJ et al (1993) AY chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 75:1287–1295
Foote S, Vollrath D, Hilton A, Page DC (1992) The human Y chromosome: overlapping DNA clones spanning the euchromatic region. Science 258:60–66
Kobayashi K, Mizuno K, Hida A, Komaki R, Tomita K, Matsushita I et al (1994) PCR analysis of the Y chromosome long arm in azoospermic patient: evidence for a second locus required for spermatogenesis. Hum Mol Genet 3:1965–1967
Chai NN, Salido EC, Yen PH (1997) Multiple functional copies of the RBM gene family, a spermatogenesis candidate on the human Y chromosome. Genomics 45:355–361
Affara N, Bishop C, Brown W, Cooke H, Davey P, Ellis N et al (1996) Report of the Second International Workshop on Y Chromosome Mapping 1995. Cytogenet Cell Genet 73:33–76
Menke DB, Mutter GI, Page DC (1997) Expression of DAZ, an azoospermia factor candidate, in human spermatogonia. Am J Hum Genet 60:237–241
Hackstein JH, Hochstenbach R (1995) The elusive fertility genes of Drosophila: the ultimate haven for selfish genetic elements. Trends Genet 11:195–200
Cooke HJ, Lee M, Kerr S, Ruggiu M (1996) A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads. Hum Mol Genet 5:513–516
Eberhart CG, Maines JZ, Wasserman SA (1996) Meiotic cell cycle requirement for a fly homologue of human deleted in Azoospermia. Nature 381:783–785
Karashima T, Sugimoto A, Yamamoto MA (1997) A C. elegans homologue of DAZ/boule is involved in progression through meiosis during oogenesis. Worm Breeder’s Gaz 15:65–66
Ruggiu M, Speed R, Taggart M, McKay SJ, Kilanowski F, Saunders P et al (1997) The mouse Dazla gene encodes a cytoplasmic protein essential for gametogenesis. Nature 389:73–77
Houston DW, Zhang J, Maines JZ, Wasserman SA, King ML (1998) A Xenopus DAZ-like gene encodes an RNA component of germ plasm and is a functional homologue of Drosophila boule. Development 125:171–180
Xu EY, Moore FL, Pera RA (2001) A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans. Proc Natl Acad Sci U S A 98:7414–7419
Gill ME, Hu YC, Lin Y, Page DC (2011) Licensing of gametogenesis, dependent on RNA binding protein DAZL, as a gateway to sexual differentiation of fetal germ cells. Proc Natl Acad Sci U S A 108:7443–7448
Saut N, Terriou P, Navarro A, Levy N, Mitchell MJ (2000) The human Y chromosome genes BPY2, CDY1 and DAZ are not essential for sustained fertility. Mol Hum Reprod 6:789–793
Moro E, Ferlin A, Yen PH, Franchi PG, Palka G, Foresta C (2000) Male infertility caused by a de novo partial deletion of the DAZ clusters on the Y chromosome. J Clin Endocrinol Metab 85:4069–4073
Bienvenu T, Patrat C, McElreavey K, de Almeida M, Jouannet P (2001) Reduction in the DAZ gene copy number in two infertile men with impaired spermatogenesis. Ann Genet 44:125–128
de Vries JW, Hoffer MJ, Repping S, Hoovers JM, Leschot NJ, van der Veen F (2002) Reduced copy number of DAZ genes in subfertile and infertile men. Fertil Steril 77:68–75
Repping S, van Daalen SK, Korver CM, Brown LG, Marsyalek JD (2004) Gianolten Y chromosomes has dispersed throughout northern Eurasia despite a 1.8Mb deletion in AZFc region. Genomics 83:1046–1052
Blanco P, Shlumukova M, Sargent CA, Jobling MA, Affara N, Hurles ME (2000) Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism. J Med Genet 37:752–758
Kamp C, Hirschmann P, Voss H, Huellen K, Vogt PH (2000) Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events. Hum Mol Genet 9:2563–2572
Rozen S, Skaletsky H, Marsyalek JD, Minx PJ, Cordum HS, Waterston RH et al (2003) Abundant gene conversion between arms of palindromes in human and ape Y chromosome. Nature 423:873–876
Jegalian K, Page DC (1998) A proposed path by which genes common to mammalian X and Y chromosomes evolve to become X inactivated. Nature 394:776–780
Jegalian K, Lahn BT (2001) Why the Yis so weird. Sci Am 284:56–61
Rice WR (1992) Sexually antagonistic genes: experimental evidence. Science 256:1436–1439
Rice WR (1994) Degeneration of a nonrecombining chromosome. Science 263:230–232
Rice WR (1996) Evolution of the Y sex chromosome in animals. Bioscience 46:331–343
Graves JA (1995) The origin and function of the mammalian Y chromosome and Y-borne genes—an evolving understanding. BioEssays 17:311–320
Graves JA (1995) The evolution of mammalian sex chromosomes and the origin of sex determining genes. Philos Trans R Soc Lond Ser B Biol Sci 350:305–311
Graves JA, Disteche CM, Toder R (1998) Gene dosage in the evolution and function of mammalian sex chromosomes. Cytogenet Cell Genet 80:94–103
Lahn BT, Page DC (1999) Four evolutionary strata on the human X chromosome. Science 286:964–967
Delbridge ML, Harry JL, Toder R, O’Neill RJ, Ma K, Chandley AC et al (1997) A human candidate spermatogenesis gene, RBM1, is conserved and amplified on the marsupial Y chromosome. Nat Genet 15:131–136
Delbridge ML, Lingenfelter PA, Disteche CM, Graves JA (1999) The candidate spermatogenesis gene RBMY has a homologue on the human X chromosome. Nat Genet 22:223–224
Mazeyrat S, Saut N, Mattei MG, Mitchell MJ (1999) RBMY evolved on theYchromosome from a ubiquitously transcribed X-Y identical gene. Nat Genet 22:224–226
Vogel T, Speed RM, Teague P, Cooke HJ (1999) Mice with Y chromosome deletion and reduced Rbm genes on a heterozygous Dazl1 null background mimic a human azoospermic factor phenotype. Hum Reprod 14:3023–3029
Graves JA (1997) Two uses for old SOX. Nat Genet 16:114–115
Pask A, Graves JA (1999) Sex chromosomes and sexdetermining genes: insights from marsupials and nomotremes. Cell Mol Life Ser 55:71–95
Vidal VP, Chaboissier MC, de Rooij DG, Schell A (2001) Sox9 induces testis development in XX transgenic mice. Nat Genet 28:216–217
Winge O (1927) The location of eighteen genes in lebistes reticulates. J Genet 18:1–43
Fisher RA (1931) The evolution of dominance. Biol Rev 6:345–368
Charlesworth D, Charlesworth B (1980) Sex differences in fitness and selection for centric fusions between sex-chromosomes and autosomes. Genet Res 35:205–214
Silber SJ (1999) The disappearing male. In: Jansen R, Mortimer D (eds) Toward reproductive certainty—fertility and genetics beyond 1999. Parthenon Publishing Group, New York/London, pp 499–505
Brooks R (2000) Negative genetic correlation between male sexual attractiveness and survival. Nature 406:67–70
Enomoto T, Matsubayashi K, Nakano M, Fuji-Hanamoto H, Kusunoki H (2004) Testicular histological examination of spermatogenic activity in captive gorillas. Am J Primatol 63:183–199
Hughes JF, Skaletsky H, Pyntikova T, Graves TA, van Daalen SKM, Saskiak M et al (2010) Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content. Nature 463:536–539
Noordam MJ, van Daalen SKM, Hovingh SE, Korver CM, van der Veen F, Repping S (2011) A novel partial deletion of the Y chromosome azoospermia factor C region is caused by nonhomologous recombination between palindromes and may be associated with increased sperm counts. Hum Reprod 26:713–723
Rice WR (1984) Sex-chromosomes and the evolution of sexual dimorphism. Evolution 38:735–742
Wang PG, McCarrey JR, Yang F, Page DC (2001) An abundance of X-linked genes expressed in spermatogonia. Nat Genet 27:422–426
Mueller JL, Mahadevaiah SK, Park PJ, Warburton PE, Page DC, Turner JM (2008) The mouse X chromosome is enriched for multicopy testis genes showing postmeiotic expression. Nat Genet 40:794–799
de Vries JW, Repping S, Oates R, Carson R, Leschot NJ, van der Veen F (2001) Absence of Deleted in Azoospermia (DAZ) genes in spermatozoa of infertile men with somatic DAZ deletions. Fertil Steril 75:476–479
Edwards RG, Bishop CE (1997) On the origin and frequency of Y chromosome deletions responsible for severe male infertility. Mol Hum Reprod 3:549–554
Sokol RZ, Sparkes R (1987) Demonstrated paternity in spite of severe idiopathic oligospermia. Fertil Steril 47:356–358
Giltay JC, Kastrop PM, Tuerlings JH, Kremer JA, Tiemessen CH, Gerssen-Schoorl KB et al (1999) Subfertile men with constitutive chromosome abnormalities do not necessarily refrain from intracytoplasmic sperm injection treatment: a follow-up study on 75 Dutch patients. Hum Reprod 14:318–320
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2018 Springer International Publishing AG, part of Springer Nature
About this chapter
Cite this chapter
Silber, S. (2018). The Genetic Control of Male Infertility and Understanding the Y Chromosome. In: Fundamentals of Male Infertility. Springer, Cham. https://doi.org/10.1007/978-3-319-76523-5_17
Download citation
DOI: https://doi.org/10.1007/978-3-319-76523-5_17
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-76522-8
Online ISBN: 978-3-319-76523-5
eBook Packages: MedicineMedicine (R0)