Hum. Reprod. Advance Access originally published online on December 22, 2005
Human Reproduction 2006 21(4):980-985; doi:10.1093/humrep/dei428
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Reduced recombination associated with the production of aneuploid sperm in an infertile man: a case report
1 Department of Obstetrics and Gynaecology, University of British Columbia, Vancouver, British Columbia and 2 Department of Biology, York University, Toronto, Ontario Canada
3 To whom correspondence should be addressed at: Department of Obstetrics and Gynaecology, Room 313, Willow Pavilion, 855 West 12th Avenue, Vancouver, British Columbia, Canada V5Z 1M9. E-mail: sai{at}interchange.ubc.ca
Studies using gene-linkage analysis have suggested that abnormal recombination during meiosis may lead to the production of aneuploid gametes; however, there is little direct evidence of a link between the two in human males. We analysed spermatocytes in the pachytene stage from a man with extremely high aneuploidy rates in his sperm. Testicular tissue specimens of the infertile man and two vasectomy reversals were processed with immuofluorescent techniques to visualize synaptonemal complex and recombination foci and fluorescent in situ hybridization on spermatocytes and sperm with probes for chromosomes 13, 21, 18, X and Y. We observed no recombination between sex chromosomes in the infertile man, while in two controls, we observed recombination rates of 79.3 and 81.0% between the sex chromosomes. This was associated with a total sex aneuploidy rate of 41.61% in testicular sperm of the infertile man (0.44 and 0.62% in two controls). Recombination on chromosome 21 was reduced in the infertile man, with 10.62% of spermatocytes showing no recombination (0 and 1.67% in two controls), as well as chromosome 13, with 53.98% having 
1 recombination foci (22.05 and 21.67% in two controls). This was associated with increased aneuploidy for those chromosomes. Chromosome 18 aneuploidy was slightly increased, although there was no apparent decrease in recombination. These results provide the first evidence of both recombination and non-disjunction abnormalities in the same individual. This is also the only reported case of an infertile man who shows no recombination between the sex chromosomes, despite the formation of the sex body.
Key words: aneuploid sperm/male infertility/reduced recombination/spermatocytes/synaptonemal complex
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  F. Sun, M. Mikhaail-Philips, M. Oliver-Bonet, E. Ko, A. Rademaker, P. Turek, and R.H. Martin The relationship between meiotic recombination in human spermatocytes and aneuploidy in sperm Hum. Reprod., August 1, 2008; 23(8): 1691 - 1697. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 F. Sun, M. Mikhaail-Philips, M. Oliver-Bonet, E. Ko, A. Rademaker, P. Turek, and R.H. Martin Reduced meiotic recombination on the XY bivalent is correlated with an increased incidence of sex chromosome aneuploidy in men with non-obstructive azoospermia Mol. Hum. Reprod., July 1, 2008; 14(7): 399 - 404. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. Kirkpatrick, K. A. Ferguson, H. Gao, S. Tang, V. Chow, B. H. Yuen, and S. Ma A comparison of sperm aneuploidy rates between infertile men with normal and abnormal karyotypes Hum. Reprod., July 1, 2008; 23(7): 1679 - 1683. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. Uroz, O. Rajmil, and C. Templado Premature separation of sister chromatids in human male meiosis Hum. Reprod., April 1, 2008; 23(4): 982 - 987. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. A. Ferguson, V. Chow, and S. Ma Silencing of unpaired meiotic chromosomes and altered recombination patterns in an azoospermic carrier of a t(8;13) reciprocal translocation Hum. Reprod., April 1, 2008; 23(4): 988 - 995. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. C. Wong, K. A Ferguson, V. Chow, and S. Ma Sperm aneuploidy and meiotic sex chromosome configurations in an infertile XYY male Hum. Reprod., February 1, 2008; 23(2): 374 - 378. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. A. Ferguson, E. C. Wong, V. Chow, M. Nigro, and S. Ma Abnormal meiotic recombination in infertile men and its association with sperm aneuploidy Hum. Mol. Genet., December 1, 2007; 16(23): 2870 - 2879. [Abstract] [Full Text] [PDF]
|
|