Mutation in TDRD9 causes non-obstructive azoospermia in infertile men

Abstract

This is the first report of a recessive deleterious mutation in <i>TDRD9</i> in humans. The clinical phenotype recapitulates that observed in the <i>Tdrd9</i> knockout mice where this gene was demonstrated to participate in long interspersed element-1 retrotransposon silencing. If this function is preserved in human, our data underscore the importance of maintaining DNA stability in the human male germ line.