Low-frequency protamine 1 gene transversions c.102GT and c.–107GC do not correlate with male infertility.

Correspondence in Journal of Medical Genetics 2008 vol. 45 n°4Note/ Correspondenc dans J. Med. Genet.Iguchi et al,1 and Ravel et al.2 have proposed that, in the heterozygous state, the c.102GT and the c.-107GC transversions in the protamine 1 gene (PRM1), could be causes of human male infertility. Deleterious mutations in one allele of the human PRM1 gene are reasonably expected to have a dominant negative effect on male fertility, because in the mouse, germ cells carrying one null Prm1 allele do not produce viable gametes.3 In human PRM1 studies,1 2 however, several infertile men carried one of the two transversions, evoking the possibility of founder effects and therefore efficient transmission. To explore this apparent paradox, we screened 1195 infertile and control men for these two transversions, and conclude that neither has a significant effect on male fertility