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An SNP in protamine 1: a possible genetic cause of male infertility?
  1. N Iguchi1,
  2. S Yang2,
  3. D J Lamb2,
  4. N B Hecht1
  1. 1Center for Research on Reproduction and Women’s Health, University of Pennsylvania School of Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
  2. 2Scott Department of Urology and the Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA
  1. Correspondence to:
 Dr N B Hecht
 William Shippen Jr Professor of Human Reproduction, Center for Research on Reproduction and Women’s Health, University of Pennsylvania Medical Center, 1310 Biomedical Research Building II/III, 421 Curie Boulevard, Philadelphia, PA 19104-6142, USA; nhecht{at}


Gene targeting of the sperm nuclear proteins, the protamines, in mice leads to haploinsufficiency, abnormal chromatin compaction, sperm DNA damage, and male infertility. In order to investigate whether changes in amount or structure of the protamines could be a cause of human infertility, we sequenced the protamine genes of infertile men whose sperm appeared phenotypically similar to those of protamine deficient mice. We identified a heterozygous single nucleotide polymorphism (SNP) in the protamine (PRM1) gene in three infertile men (10% of the total infertile men analysed). This SNP disrupts one of the highly conserved arginine clusters needed for normal DNA binding. To rapidly screen for this SNP in infertile patients, we developed a simple PCR restriction fragment length polymorphism assay. This is the first report of a SNP in the PRM1 gene that appears associated with human male infertility.

  • ICSI, intracytoplasmic sperm injection
  • RFLP, restriction fragment length polymorphism
  • SNP, single nucleotide polymorphism
  • infertility
  • SNP
  • protamine
  • sperm and reproduction

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  • Published Online First 30 September 2005

  • Competing interests: there are no competing interests.