Evolution of a new testis-specific functional promoter within the highly conserved MAP2K7 gene of the mouse

Map2k7(synonymMkk7) is a conserved regulatory kinase gene and a central componentof the JNK signaling cascade with key functions during cellular differentiation. It showscomplex transcription patterns, and different transcript isoforms are known in the mouse(Mus musculus). We have previously identified a newly evolved testis-specific transcript fortheMap2k7gene in the subspeciesM. m. domesticus. Here, we identify the new promoterthat drives this transcript andfind that it codes for an open reading frame (ORF) of 50 aminoacids. The new promoter was gained in the stem lineage of closely related mouse speciesbut was secondarily lost in the subspeciesM. m. musculusandM. m. castaneus. A singlemutation can be correlated with its transcriptional activity inM. m. domesticus, and cellculture assays demonstrate the capability of this mutation to drive expression. A mouseknockout line in which the promoter region of the new transcript is deleted reveals afunctional contribution of the newly evolved promoter to sperm motility and the spermatidtranscriptome. Our data show that a new functional transcript (and possibly protein) canevolve within an otherwise highly conserved gene, supporting the notion of regulatorychanges contributing to the emergence of evolutionary novelties