158
Views
7
CrossRef citations to date
0
Altmetric
Reviews

Emerging molecular methods for male infertility investigation

, , , , , , & show all

References

  • Thonneau P, Marchand S, Tallec A et al. Incidence and main causes of infertility in a resident population (1,850,000) of three French regions (1988–1989). Hum. Reprod. 6(6), 811–816 (1991).
  • Poongothai J, Gopenath TS, Manonayaki S. Genetics of human male infertility. Singapore Med. J. 50(4), 336–347 (2009).
  • Gekas J, Thepot F, Turleau C et al. Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men. Hum. Reprod. 16(4), 82–90 (2001).
  • Oates RD. Clinical and diagnostic features of patients with suspected Klinefelter syndrome. J. Androl. 2(4), 49–50 (2003).
  • Yatsenko AN, Yatsenko SA, Weedin JW et al. Comprehensive 5-year study of cytogenetic aberrations in 668 infertile men. J. Urol. 183(4), 1636–1642 (2010).
  • Ghorbel M, Gargouri Baklouti S, Ben Abdallah F et al. Chromosomal defects in infertile men with poor semen quality. J. Assist. Reprod. Genet. 29(5), 451–456 (2012).
  • Martin RH, Ko E, Rademaker A. Distribution of aneuploidy in human gametes: comparison between human sperm and oocytes. Am. J. Med. Genet. 39(3), 321–331 (1991).
  • Ribas-Maynou J, García-Peiró A, Fernández-Encinas A et al. Comprehensive analysis of sperm DNA fragmentation by five different assays: TUNEL assay, SCSA, SCD test and alkaline and neutral Comet assay. Andrology 11(7), 20–29 (2013).
  • Evenson DP, Darzynkiewicz Z, Melamed MR. Relation of mammalian sperm chromatin heterogeneity to fertility. Science 240(11), 31–33 (1980).
  • Evenson DP. Sperm chromatin structure assay (SCSA®). Methods Mol. Biol. 92(7), 147–164 (2013).
  • Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum. Genet. 3(4), 119–124 (1976).
  • Tuck-Muller CM, Chen H, Martinez JE, Shen CC, Li S. Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature. Hum. Genet. 9(6), 119–129 (1995).
  • Vogt PH, Edelmann A, Hirschmann P, Kohler MR. The azoospermia factor (AZF) of the human Y chromosome in Yq11: function and analysis in spermatogenesis. Reprod. Fertil. Dev. 7(6), 85–93 (1995).
  • Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions: state of the art 2004. Int. J. Andr. 27(2), 40–49 (2004).
  • Tuttelman F, Hoefsloot L, Patton S, Simoni M, Krausz C. Ten years of EAA/EMQN quality control scheme for microdeletions of the Y chromosome. Endocr. Abstract 29, P1051 (2012).
  • Reijo R, Lee TY, Salo P et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat. Genet. 10(2), 383–393 (1995).
  • Foresta C, Ferlin A, Moro E. Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility. Hum. Mol. Genet. 9(11), 61–69 (2000).
  • Luddi A, Margollicci M, Gambera L et al. Spermatogenesis in a man with complete deletion of USP9Y. N. Engl. J. Med. 3(60), 881–885 (2009).
  • Longepied G, Saut N, Aknin-Seifer I et al. Complete deletion of the AZFb interval from the Y chromosome in an oligozoospermic man. Hum. Reprod. 25(2) 655–663 (2010).
  • Fernandes S, Paracchini S, Meyer LH et al. A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup. Am. J. Hum. Genet. 7(4), 180–187 (2004).
  • Vogt PH, Edelmann A, Kirsch S et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum. Mol. Genet. 5 (9), 33–43 (1996).
  • Foresta C, Moro E, Ferlin A. Y chromosome microdeletions and alterations of spermatogenesis. Endocr. Rev. 22 (2), 26–29 (2001).
  • 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. 29(2), 79–86 (2001).
  • Oates RD, Silber S, Brown LG, Page DC. 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. 17(2), 813–824 (2002).
  • Repping S, Skaletsky H, Lange J et al. Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am. J. Hum. Genet. 7(1), 906–922 (2002).
  • Navarro-Costa P, Goncalves J, Plancha CE. The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility. Hum. Reprod. Update 16(5), 25–42 (2002).
  • Zerjal T, Dashnyam B, Pandya A et al. Genetic relationships of Asians and Northern Europeans, revealed by Y-chromosomal DNA analysis. Am. J. Hum. Genet. 60(1), 174–183 (1997).
  • Giachini C, Guarducci E, Longepied G et al. The gr/gr deletion(s): a new genetic test in male infertility? J. Med. Genet. 4(2), 497–502 (2005).
  • Noordam MJ, van Daalen SK, Hovingh SE et al. A novel partial deletion of the Y chromosome azoospermia factor c region is caused by non-homologous recombination between palindromes and may be associated with increased sperm counts. Hum. Reprod. 26(7), 13–23 (2011).
  • Jamsai D, O’Bryan MK. Mouse models in male fertility research. Asian J. Androl. 1(3), 139–151 (2011).
  • Balhorn R, Reed S, Tanphaichitr N. Aberrant protamine 1/protamine 2 ratios in sperm of infertile human males. Experientia 4(4), 52–55 (1988).
  • Belokopytova IA, Kostyleva EI, Tomilin AN et al. Human male infertility may be due to a decrease of the protamine P2 content in sperm chromatin. Mol. Reprod. Dev. 3(4), 53–57 (1993).
  • Bench G, Corzett MH, De Yebra L et al. Protein and DNA contents in sperm from an infertile human male possessing protamine defects that vary over time. Mol. Reprod. Dev. 50(3), 45–53 (1998).
  • Aoki VW, Liu L, Carrell DT. Identification and evaluation of a novel sperm protamine abnormality in a population of infertile males. Hum. Reprod. 20(1), 298–306 (2005).
  • Aoki VW, Liu L, Jones KP, Hatasaka H et al. Sperm protamine 1/protamine 2 ratios are related to in vitro fertilization pregnancy rates and predictive of fertilization ability. Fertil. Steril. 86(1), 408–415 (2006).
  • Carrell DT, Emery BR, Hammoud S. Altered protamine expression and diminished spermatogenesis: what is the link? Hum. Reprod. Update 1(3) 313–327 (2007).
  • Ravel C, Chantot-Bastaraud S, El Houate B et al. Mutations in the protamine 1 gene associated with male infertility. Mol. Hum. Reprod. 13(4), 61–64 (2007).
  • Imken L, Rouba H, El Houate B et al. Mutations in the protamine locus: association with spermatogenic failure? Mol. Hum. Reprod. 7(2), 33–38 (2009).
  • Lin L, Achermann JC. Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development. Sex Dev. 2(2), 200–209 (2008).
  • Lourenco D, Brauner R, Lin L, De Perdigo A et al. Mutations in NR5A1 associated with ovarian insufficiency. N. Engl. J. Med. 360(1), 200–210 (2009).
  • Bashamboo A, Ferraz-de-Souza B, Lourenco D et al. Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. Am. J. Hum. Genet. 8(7), 505–512 (2010).
  • Choi SW, Mason JB. Folate and colorectal carcinogenesis. Is DNA repair the missing link? Am. J. Gastroenterol. 9(3), 2013–2016 (1998).
  • Ebisch IM, Thomas CM, Peters WH, Braat DD, Steegers-Theunissen RP. The importance of folate, zinc and antioxidants in the pathogenesis and prevention of subfertility. Hum. Reprod. Update 1(3), 163–174 (2007).
  • Bentivoglio G, Melica F, Cristoforoni P. Folinic acid in the treatment of human male infertility. Fertil. Steril. 60(3), 698–701 (1993).
  • Ebisch IM, van Heerde WL, Thomas C et al. C677T methylenetetrahydrofolate reductase polymorphism interferes with the effects of folic acid and zinc sulfate on sperm concentration. Fertil. Steril. 80(1), 190–194 (2003).
  • Bezold G, Lange M, Peter RU. Homozygous methylenetetrahydrofolate reductase C677T mutation and male infertility. N. Engl. J. Med. 34(4), 1172–1173 (2001).
  • Ravel C, Chantot-Bastaraud S, Chalmey et al. Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts. PLoS ONE 4(6), 540–545 (2009).
  • Montjean D, Benkhalifa M, Dessolle L et al. Polymorphisms in MTHFR and MTRR genes associated with blood plasma homocysteine concentration and sperm counts. Fertil. Steril. 9(5), 635–540 (2011).
  • Avidan N, Tamary H, Dgany et al. CATSPER2, a human autosomal nonsyndromic male infertility gene. Eur. J. Hum. Genet. 1(1), 497–502 (2003).
  • Nikpoor P, Mowla SJ, Movahedin M, Ziaee SA, Tiraihi T. CatSper gene expression in postnatal development of mouse testis and in subfertile men with deficient sperm motility. Hum. Reprod. 1(9), 124–128 (2004).
  • Li HG, Ding X, Liao A, Kong X, Xiong C. Expression of CatSper family transcripts in the mouse testis during post-natal development and human ejaculated spermatozoa: relationship to sperm motility. Mol. Hum. Reprod. 1(3), 299–306 (2007).
  • Zuccarello D, Ferlin A, Cazzado et al. Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia. Hum. Reprod. 23(1), 957–962 (2008).
  • Zuccarello D, Ferlin A, Garolla A et al. A possible association of a human tektin-t gene mutation (A229V) with isolated non-syndromic asthenozoospermia: case report. Hum. Reprod. 23(4), 996–1001 (2008).
  • Dieterich K, Soto Rifo R, Faure A et al. Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility. Nat. Genet. 3(9), 661–665 (2007).
  • Dam AH, Koscinski I, Kremer J et al. Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. Am. J. Hum. Genet. 8(1), 813–820 (2007).
  • Harbuz R, Zouari R, Pierre V et al. A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. Am. J. Hum. Genet. 11(88), 351–361 (2011).
  • Klose RJ, Bird AP. Genomic DNA methylation: the mark and its mediators. Trends Biochem. Sci. 3(1), 89–97 (2006).
  • Marques CJ, Carvalho F, Sousa M, Barros. A Genomic imprinting in disruptive spermatogenesis. Lancet 36(3),1700–1702 (2004).
  • Ostermeier G, Dix D, Miller D, Khatri P, Krawetz SA. Spermatozoal RNA profiles of normal fertile men. Lancet 360(7), 72–77 (2002).
  • Lalancette C, Platts A, Johnson G et al. Identification of human sperm transcripts as candidate markers of male fertility. J. Mol. Med. 8(7), 735–748 (2009).
  • Martin C, Zhang Y. Mechanisms of epigenetic inheritance. Curr. Opin. Cell Biol. 1(9), 266–272 (2007).
  • Nanassy L, Liu L, Griffin J, Carrell DT. The clinical utility of the protamine 1/protamine 2 ratio in sperm. Protein Pept. Lett. 1(8), 772–777 (2011).
  • Liu L, Aston KI, Carrell DT. Protamine extraction and analysis of human sperm protamine 1/protamine 2 ratio using Acid gel electrophoresis. Methods Mol. Biol. 92(7), 445–450 (2013).
  • Peters AH, O’Carroll D, Scherthan H et al. Loss of the Suv39h histone methyltransferases impairs mammalian heterochromatin and genome stability. Cell 10(7), 323–337 (2001).
  • Miller D, Brinkworth M, Iles D. Paternal DNA packaging in spermatozoa: more than the sum of its parts? DNA, histones, protamines and epigenetics. Reproduction 13(9), 287–301 (2010).
  • Mohar I, Szczygiel MA, Yanagimachi R, Ward WS. Sperm nuclear halos can transform into normal chromosomes after injection into oocytes. Mol. Reprod. Dev. 6(2), 416–420 (2002).
  • Vigodner M, Shrivastava V, Gutstein L et al. Localization and identification of sumoylated proteins in human sperm: excessive sumoylation is a marker of defective spermatozoa. Hum. Reprod. 2(8), 210–223 (2013).
  • Kobayashi H, Sato A, Otsu E et al. Aberrant DNA methylation of imprinted loci in sperm from oligospermic patients. Hum. Mol. Genet. 16(2), 542–551 (2007).
  • Boissonnas CC, Abdalaoui HE, Haelewyn et al. Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men. Eur. J. Hum. Genet. 1(8), 73–80 (2010).
  • Montjean D, Ravel C, Benkhalifa M et al. Methylation changes in mature sperm deoxyribonucleic acid from oligozoospermic men: assessment of genetic variants and assisted reproductive technology outcome. Fertil. Steril. 100(5), 1241–1247 (2013).
  • Houshdaran S, Cortessis VK, Siegmund et al. Widespread epigenetic abnormalities suggest a broad DNA methylation erasure defect in abnormal human sperm. PLoS ONE 2(1), 289–292 (2007).
  • Guerrero-Bosagna C, Settles M, Lucker B, Skinner M. Epigenetic transgenerational actions of vinclozolin on promoter regions of the sperm epigenome. PLoS ONE 5(1), 310–315 (2010).
  • Miller D, Tang PZ, Skinner C, Lilford R. Differential RNA fingerprinting as a tool in the analysis of spermatozoal gene expression. Hum. Reprod. 9(8), 64–69 (1994).
  • Wykes SM, Visscher DW, Krawetz SA. Haploid transcripts persist in mature human spermatozoa. Mol. Hum. Reprod. 3(3), 15–19 (1997).
  • Ostermeier GC, Goodrich RJ, Moldenhauer JS, Diamond MP, Krawetz SA. A suite of novel human spermatozoal RNAs. J. Androl. 2(6), 70–74 (2005).
  • Platts A, Dix D, Chemes HE, Thompson K et al. Success and failure in human spermatogenesis as revealed by teratozoospermic RNAs. Hum. Mol. Genet. 16(7), 63–73 (2007).
  • Montjean D, De La Grange P, Gentien D et al. Sperm transcriptome profiling in oligozoospermia. J. Assist. Reprod. Genet. 2(9), 3–10 (2012).
  • Johnston D, Wooters J, Kopf G, Qiu Y, Roberts K. Analysis of the human sperm proteome. Ann. NY Acad. Sci. 10(61), 190–202 (2005).
  • Baker M, Reeves G, Hetherington L, Muller J, Baur I, Aitken RJ. Identification of gene products present in Triton X-100 soluble and insoluble fractions of human spermatozoa lysates using LC-MS/MS analysis. Proteomics Clin. Appl. 1(5), 24–32 (2007).
  • Li LW, Fan L, Zhu W et al. Establishment of a high resolution 2-D reference map of human spermatozoal proteins from 12 fertile sperm-bank donors. Asian J. Androl. 9(3), 21–29 (2007).
  • Zhao C, Huo R, Wang FQ, Lin M, Zhou ZM, Sha JH. Identification of several proteins involved in regulation of sperm motility by proteomic analysis. Fertil. Steril. 8(7), 436–438 (2007).
  • Martínez-Heredia J, de Mateo S, Vidal-Taboada JM, Ballescà JL, Oliva R. Identification of proteomic differences in asthenozoospermic sperm samples. Hum. Reprod. 2(3), 783–791 (2008).
  • Huszar G, Ozkavukcu S, Jakab A, Celik-Ozenci C, Sati G, Cayli S. Hyaluronic acid binding ability of human sperm reflects cellular maturity and fertilizing potential: selection of sperm for intracytoplasmic sperm injection. Curr. Opin. Obstet. Gynecol. 1(8), 260–267 (2006).
  • Colantonio D, Chan D. The clinical application of proteomics. Clin. Chim. Acta 35(7), 151–158 (2005).

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.