Mutations in the protamine 1 gene associated with male infertility.

  title={Mutations in the protamine 1 gene associated with male infertility.},
  author={C. Ravel and S. Chantot-Bastaraud and B. El houate and I. Berthaut and L. Verstraete and V. de Larouzi{\`e}re and D. Lourenço and A. Dumaine and J. Antoine and J. Mandelbaum and J. Siffroi and K. McElreavey},
  journal={Molecular human reproduction},
  volume={13 7},
  • C. Ravel, S. Chantot-Bastaraud, +9 authors K. McElreavey
  • Published 2007
  • Medicine, Biology
  • Molecular human reproduction
  • 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… CONTINUE READING
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