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Mol. Hum. Reprod. Advance Access originally published online on September 19, 2007
Molecular Human Reproduction 2007 13(10):705-712; doi:10.1093/molehr/gam057
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© The Author 2007. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Quantification of DDX3Y, RBMY1, DAZ and TSPY mRNAs in testes of patients with severe impairment of spermatogenesis

M.C. Lardone1, D.A. Parodi1, R. Valdevenito2, M. Ebensperger3, A. Piottante4, M. Madariaga1, R. Smith1, R. Pommer1, N. Zambrano5 and A. Castro1,6

1 Institute of Maternal and Child Research, School of Medicine, University of Chile, Santa Rosa 1234, Santiago, Chile 2 José Joaquín Aguirre Clinical Hospital, Department of Urology, School of Medicine, University of Chile, Santos Dumont 999, Santiago, Chile 3 San Borja Arriarán Clinical Hospital, Department of Urology, Santa Rosa 1234, Santiago, Chile 4 San Juan de Dios Hospital, Department of Pathological Anatomy, Portales 3229, Santiago, Chile 5 Militar Hospital of Santiago, Department of Urology, Avenue Holanda 050, Santiago, Chile

6Correspondence address. Tel: +56-2-4248280; Fax: +56-2-4247240; E-mail: acastro{at}med.uchile.cl

Y chromosome microdeletion is the most important genetic cause of impairment of spermatogenesis. Nevertheless, a significant proportion of patients with spermatogenic failure do not have this condition. This study investigated the expression level of AZF genes, DDX3Y (DBY), RBMY1, DAZ and TSPY in testicular tissues of 42 subjects with impaired spermatogenesis compared with 33 with normal spermatogenesis. Histopathological evaluation was performed in all subjects and tissues were classified according to Johnsen Score. Transcript amounts were determined by quantitative-competitive RT–PCR. Patients with complete Sertoli cell-only syndrome (SCOS) did not exhibit RBMY1, DAZ and TSPY gene expression, however, we detected very low expression of DDX3Y transcript. Tissue samples with focal SCOS showed significantly decreased expression of all genes (P < 0.001). Maturation arrest and hypospermatogenesis tissues expressed significantly low levels of DDX3Y testicular transcript (P < 0.001), while the mRNA levels of the other genes were similar to that in tissues from the normal spermatogenesis group. Negative or diminished gene expression of DDX3Y, RBMY1, DAZ and TSPY in tissues samples with SCOS or focal SCOS reflects the absence or the lower number of germ cells, respectively. The finding that the testicular transcript of DDX3Y is significantly decreased in patients with severe spermatogenenic failure, especially in those presenting maturation arrest, suggests an important role of DDX3Y during spermatogenesis.

Key words: spermatogenesis impairment/AZF genes/DDX3Y/testicular transcripts/DBY

Submitted on June 21, 2007; resubmitted on July 20, 2007; accepted on July 25, 2007.


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