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Mol. Hum. Reprod. Advance Access originally published online on July 14, 2009
Molecular Human Reproduction 2009 15(11):733-738; doi:10.1093/molehr/gap056
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© The Author 2009. 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 locus: association with spermatogenic failure?

L. Imken1,5, H. Rouba1, B. El Houate1, N. Louanjli2, A. Barakat1, A. Chafik3 and K. McElreavey4

1Human Genetic Unit, Research Department, Pasteur Institute of Morocco, 1 place Louis Pasteur, Casablanca 20360, Morocco 2 In Vitro Fecondation Center, 40 Rue Prince Moulay Abedelah, Casablanca 20 000, Morocco 3 Laboratory of Anthropogenetic and Biostatistic, University Chouaib Doukkali, 299, El Jadida 24000, Morocco 4Human Developmental Genetics, Developmental Biology Department, Pasteur Institute, 25 Rue Docteur Roux, Paris 75015, France

5 Correspondence address. E-mail: laila.imken{at}pasteur.ma

The protamine locus consists of a 28.5 kb region with a linear array of the protamine (PRM)1, PRM2, PRM3 and transition nuclear protein (TNP)2 genes. Several studies indicate an abnormal expression pattern of protamine genes associated with male infertility, although the molecular mechanism underlying this observation is unclear. Here, we determined the spectrum of DNA variants present in all four genes in men with unexplained infertility compared with an ancestry-matched fertile/normospermic population. A total of 160 control individuals and at least 125 infertile men with either idiopathic azoospermia or oligozoospermia were sequenced for the open reading frame of PRM1, PRM2, PRM3 and TNP2 genes. All individuals carried an apparently intact Y chromosome. Of the 28 variants identified, 21 were previously described in the literature. The novel variants that were observed only in the infertile cohort included the SNP c.65G>A mutation which resulted in an amino acid change at the codon 22 (p.Ser22Asn) in the PRM1 gene, a mutation in the promoter region of PRM2 (–67C>T) and a nonsense mutation in the PRM3 gene. These data are consistent with that of previous studies which have indicated that mutations in the protamine locus may be an infrequent cause of male infertility.

Key words: infertility/Moroccan population/PRM3/protamine/spermatogenesis

Submitted on April 17, 2009; resubmitted on June 2, 2009; accepted on July 8, 2009.


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