Human Reproduction, Vol. 16, No. 6, 1209-1217,
June 2001
© 2001 European Society of Human Reproduction and Embryology
FISH assessment of aneuploidy frequencies in mature and immature human spermatozoa classified by the absence or presence of cytoplasmic retention*
1 The Sperm Physiology Laboratory, Department of Obstetrics and Gynecology, and 2 Department of Human Genetics, Yale University School of Medicine, New Haven, CT, USA
Previously, a relationship has been found between diminished cellular maturity of human spermatozoa and low-level expression of the testis-specific chaperone protein, HspA2. Because HspA2 is a component of the synaptonemal complex in rodents, and assuming that this is also the case in men, it was postulated that the frequency of chromosomal aneuploidies would be higher in immature versus mature spermatozoa. This question was examined in spermatozoa from semen and from 80% Percoll pellets (enriched for mature spermatozoa) of the same ejaculate in 10 oligozoospermic men. Immature spermatozoa with retained cytoplasm, which signifies spermiogenetic arrest, were identified by immunocytochemistry. Using fluorescence in-situ hybridization (FISH), ~7000 sperm nuclei were evaluated in each of the 20 fractions (142 086 spermatozoa in all) using centromeric probes for the X, Y and 17 chromosomes. The proportions of immature spermatozoa were 45.4 ± 3.4 versus 26.6 ± 2.2% in the two semen versus the Percoll groups (medians: 48.2 versus 25%, P < 0.001, n = 300 spermatozoa per fraction, total 6000 spermatozoa). There was also a concomitant decline in total disomy, total diploidy and total aneuploidy frequencies in the 80% Percoll versus semen fractions (0.17 versus 0.54%, 0.14 versus 0.26% and 0.31 versus 0.81% respectively, P < 0.001 in all comparisons). The mean decline of aneuploidies was 2.7-fold. With regard to the hypothesis that aneuploidies are related to sperm immaturity, there was a close correlation between the incidence of immature spermatozoa and disomies (r = 0.7, P < 0.001) but no correlation with diploidies (r = 0.03), indicating that disomies originate primarily in immature spermatozoa. It is suggested that the common factor underlying sperm immaturity and aneuploidies is the diminished expression of HspA2. In addition, the lack of this chaperone may also cause diminished cellular transport of proteins, such as DNA-repair enzymes or of the retention of cytoplasm that is extruded from normally maturing spermatozoa during spermiogenesis.
Key words: cellular maturity/chromosomal aneuploidy/diploidy frequency variations/HspA2 chaperone protein
3 Present address: Institute for Germ Cell Biology, University of Sienna, Sienna, Italy
4 To whom correspondence should be addressed at: The Sperm Physiology Laboratory, Department of Obstetrics and Gynecology, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520-8063, USA. E-mail: gabor.huszar{at}yale.edu
* Presented in part at the 1999 Meeting of the American Society of Reproductive Medicine, Toronto, Canada, September 25–30, 1999.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  J.D.M. Nicopoullos, C. Gilling-Smith, P.A. Almeida, S. Homa, L. Nice, H. Tempest, and J.W.A. Ramsay The role of sperm aneuploidy as a predictor of the success of intracytoplasmic sperm injection? Hum. Reprod., February 1, 2008; 23(2): 240 - 250. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. Ciriminna, M.L. Papale, P.G. Artini, M. Costa, L. De Santis, L. Gandini, L. Parmegiani, G. Ragni, A. Revelli, L. Rienzi, et al. Impact of Italian legislation regulating assisted reproduction techniques on ICSI outcomes in severe male factor infertility: a multicentric survey Hum. Reprod., September 1, 2007; 22(9): 2481 - 2487. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L. Muriel, V. Goyanes, E. Segrelles, J. Gosalvez, J. G. Alvarez, and J. L. Fernandez Increased Aneuploidy Rate in Sperm With Fragmented DNA as Determined by the Sperm Chromatin Dispersion (SCD) Test and FISH Analysis J Androl, January 1, 2007; 28(1): 38 - 49. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. Moretti, G. Di Cairano, S. Capitani, G. Scapigliati, B. Baccetti, and G. Collodel Cryptorchidism and Semen Quality: A TEM and Molecular Study J Androl, January 1, 2007; 28(1): 194 - 199. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. J. Wyrobek, B. Eskenazi, S. Young, N. Arnheim, I. Tiemann-Boege, E. W. Jabs, R. L. Glaser, F. S. Pearson, and D. Evenson Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm PNAS, June 20, 2006; 103(25): 9601 - 9606. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T.G. Cooper Cytoplasmic droplets: the good, the bad or just confusing? Hum. Reprod., January 1, 2005; 20(1): 9 - 11. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Celik-Ozenci, A. Jakab, T. Kovacs, J. Catalanotti, R. Demir, P. Bray-Ward, D. Ward, and G. Huszar Sperm selection for ICSI: shape properties do notpredict the absence or presence of numericalchromosomal aberrations Hum. Reprod., September 1, 2004; 19(9): 2052 - 2059. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. Huszar, C. Celik-Ozenci, S. Cayli, T. Kovacs, L. Vigue, and E. Kovanci Semen Characteristics After Overnight Shipping: Preservation of Sperm Concentrations, HspA2 Ratios, CK Activity, Cytoplasmic Retention, Chromatin Maturity, DNA Integrity, and Sperm Shape J Androl, July 1, 2004; 25(4): 593 - 604. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Cayli, D. Sakkas, L. Vigue, R. Demir, and G. Huszar Cellular maturity and apoptosis in human sperm: creatine kinase, caspase-3 and Bcl-XL levels in mature and diminished maturity sperm Mol. Hum. Reprod., May 1, 2004; 10(5): 365 - 372. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. Rodrigo, C. Rubio, E. Mateu, C. Simon, J. Remohi, A. Pellicer, and M. Gil-Salom Analysis of chromosomal abnormalities in testicular and epididymal spermatozoa from azoospermic ICSI patients by fluorescence in-situ hybridization Hum. Reprod., January 1, 2004; 19(1): 118 - 123. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Mueller, T. A. Rosenquist, Y. Takai, R. A. Bronson, and E. Wimmer Loss of Nectin-2 at Sertoli-Spermatid Junctions Leads to Male Infertility and Correlates with Severe Spermatozoan Head and Midpiece Malformation, Impaired Binding to the Zona Pellucida, and Oocyte Penetration Biol Reprod, October 1, 2003; 69(4): 1330 - 1340. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Celik-Ozenci, J. Catalanotti, A. Jakab, C. Aksu, D. Ward, P. Bray-Ward, R. Demir, and G. Huszar Human Sperm Maintain Their Shape Following Decondensation and Denaturation for Fluorescent In Situ Hybridization: Shape Analysis and Objective Morphometry Biol Reprod, October 1, 2003; 69(4): 1347 - 1355. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. G. Alvarez Nurture vs Nature: How Can We Optimize Sperm Quality? J Androl, September 1, 2003; 24(5): 640 - 648. [Full Text] [PDF]
|
|
|
|
|
|
A. Jakab, T. Kovacs, Z. Zavaczki, A. Borsos, P. Bray-Ward, D. Ward, and G. Huszar Efficacy of the swim-up method in eliminating sperm with diminished maturity and aneuploidy Hum. Reprod., July 1, 2003; 18(7): 1481 - 1488. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Jakab, T. Kovacs, C. Celik, and G. Huszar Origin of sperm with extra chromosome set Hum. Reprod., February 1, 2003; 18(2): 459 - 459. [Full Text] [PDF]
|
|
|
|
|
|
I. Mateizel, G. Verheyen, E. Van Assche, H. Tournaye, I. Liebaers, and A. Van Steirteghem FISH analysis of chromosome X, Y and 18 abnormalities in testicular sperm from azoospermic patients Hum. Reprod., September 1, 2002; 17(9): 2249 - 2257. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Egozcue, J. Blanco, F. Vidal, and J. Egozcue Diploid sperm and the origin of triploidy Hum. Reprod., January 1, 2002; 17(1): 5 - 7. [Abstract] [Full Text] [PDF]
|
|