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Human Reproduction, Vol. 9, No. 12, pp. 2313-2317, 1994
© 1994 European Society of Human Reproduction and Embryology

research-article

Genetics: Disturbances of nuclear condensation in human spermatozoa: search for mutations in the genes for protamine 1, protamine 2 and transition protein 1

M. Schlicker, V. Schnülle, L. Schneppel, V.I. Vorob'ev1 and W. Engel2

1Institute of Cytology, Russian Academy of Sciences, Tikhoretsky Avenue 4 194064 St. Petersburg, Russian Institute of Human Genetics, University of GÖttingen, Go{beta}lersta{beta}e 12d 37073 Göttingen, Germany

Correspondence: 2To whom correspondence should be addressed

During spermiogenesis, the successive replacement of the somatic histones by basic proteins, the transition proteins and protamines, allows normal sperm nuclear condensation. It was suggested that disturbances in nuclear condensation may result in male infertility. Here we report the first molecular analysis of the structure of three genes which code for germ cell-specific nuclear proteins, namely protamine 1 (PRM1), protamine 2 (PRM2) and transition protein 1 (TNP1) in infertile men with disturbed sperm chromatin condensation. In 36 infertile men whose spermatozoa showed a positive reaction with aniline blue, which is an indication for the presence of histones in the nuclei, the complete nucleotide sequences of the coding regions and 5’ and 3‘ untranslated regions of the three genes were evaluated. In addition, 10 infertile patients with oligoasthenoteratozoospermia were studied in the same way, as well as nine infertile patients whose spermatozoa showed a reduction of the protamine 2 content. We did not detect any mutation in the three genes in any of the patients. We assume that the disturbances in the sperm chromatin condensation of our patients, and those described in the literature, are not primarily due to mutations in the genes for PRM1, PRM2 and TNP1.

Key words: gene mutations/male infertility/protamine 1/protamine 2/transition protein 1


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