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Mol. Hum. Reprod. Advance Access originally published online on May 9, 2007
Molecular Human Reproduction 2007 13(7):461-464; doi:10.1093/molehr/gam031
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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

Mutations in the protamine 1 gene associated with male infertility

C. Ravel1,2, S. Chantot-Bastaraud1,2, B. El Houate2,3, I. Berthaut1, L. Verstraete4, V. De Larouziere1, D. Lourenço1, A. Dumaine1, J.M. Antoine4, J. Mandelbaum1, J.P. Siffroi1 and K. McElreavey2,5

1 Université Pierre et Marie Curie Paris-6, EA1533, AP-HP, Hôpital Tenon, Paris, France 2 Reproduction, Fertility and Populations, Institut Pasteur, Paris, France 3 Institut Pasteur of Morocco, Casablanca, Morocco 4 AP-HP, Hôpital Tenon, Department of Obstetrics and Gynecology, Paris, France

5 Correspondence address. Tel: +33 1 45 68 89 20; E-mail: kenmce{at}pasteur.fr

In elongating spermatids, human sperm chromatin undergoes a complex compaction in which the transition proteins are extensively replaced by the protamine proteins. Several human studies demonstrate that expression of the protamine proteins is altered in some men with male infertility. For this study, we screened the PRM1 (protamine 1) gene for mutations in a large cohort of 281 men seeking infertility treatment. We identified the c.102G > T transversion that results in an p.Arg34Ser amino acid change in two men. One of these patients presented with oligozoospermia associated with increased sperm DNA fragmentation. The second individual was normospermic but together with his partner sought treatment for idiopathic couple infertility. We also identified a novel missense mutation (c.119G > A, p.Cys40Tyr) in a man with oligoasthenozoospermia. These mutations were not observed in control populations. Interestingly, we also detected variants both 5' and 3' to the PRM1 open-reading frame specifically in infertile individuals. Four individuals with unexplained severe oligozoospermia were heterozygote for a c.–107G > C change that is located at –15 bp from the transcription initiation site of the gene. This mutation may influence PRM1 expression. In addition, a c.*51G > C variant was detected in the 3'UTR of PRM1 specifically in a man with severe oligoasthenozoospermia.

Key words: DNA fragmentation/male infertility/protamine 1 mutation/spermatogenesis

Submitted on February 5, 2007; resubmitted on March 19, 2007; accepted on March 26, 2007.


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