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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in the protamine 1 gene associated with male infertility
Molecular Human Reproduction, Volume 13, No. 7, Year 2007
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Description
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. © The Author 2007. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved.
Authors & Co-Authors
Ravel, Célia
France, Paris
Sorbonne Université
France, Paris
Institut Pasteur, Paris
Chantot-Bastaraud, Sandra
France, Paris
Sorbonne Université
France, Paris
Institut Pasteur, Paris
El Houate, B.
France, Paris
Institut Pasteur, Paris
Morocco, Casablanca
Institut Pasteur du Maroc
Berthaut, Isabelle
France, Paris
Sorbonne Université
Verstraete, L.
France, Paris
Hôpital Tenon
De Larouziere, Vanina
France, Paris
Sorbonne Université
Lourenço, Diana
France, Paris
Sorbonne Université
Dumaine, A.
France, Paris
Sorbonne Université
Antoine, Jean Marie
France, Paris
Hôpital Tenon
Mandelbaum, Jacqueline
France, Paris
Sorbonne Université
Siffroi, Jean Pierre
France, Paris
Sorbonne Université
McElreavey, Ken D.
France, Paris
Institut Pasteur, Paris
Statistics
Citations: 80
Authors: 12
Affiliations: 4
Identifiers
Doi:
10.1093/molehr/gam031
ISSN:
13609947
e-ISSN:
14602407
Research Areas
Cancer
Genetics And Genomics
Sexual And Reproductive Health
Study Design
Cohort Study
Participants Gender
Male