Pluto Bioinformatics

GSE134802: A male infertility mutation switches NANOS1 activity from anti-apoptotic to pro-apoptotic

Bulk RNA sequencing

While Nanos-mediated maintenance of germ cells in Drosophila and mice has been related to regulation of apoptosis, the relevance of these findings to human physiology is uncertain. We show here that the NM_199461.4(NANOS1_v001):c.[100C>A;240_242del]; NM_199461.4(NANOS1_i001):p.[(Pro34Thr);(Ser83del)] double mutation, which has previously been associated with a lack of germ cells in the testes of infertile patients, causes NANOS1 to functionally switch from being anti-apoptotic to pro-apoptotic in the human male germ cell line TCam-2. SOURCE: Jadwiga Jaruzelska (jaruzjad@man.poznan.pl) - Institute of Human Genetics, Polish Academy of Sciences