title: A gene trap mutation of a murine homolog of the Drosophila stem cell factor Pumilio results in smaller testes but does not affect litter size or fertility.
abstract: Members of the Pumilio (also called PUF) gene family belong to a class of highly conserved developmental regulators that are present in both flies and humans. Much is known about the function of Pumilio genes in invertebrate development, in particular their role as stem cell factors required for maintenance and/or self-renewal of germline stem cells in Drosophila and Caenorhabditis elegans. It remains unknown whether Pumilio genes are also required for development in mammals; however, several lines of evidence suggest similar functions based on extensive sequence homology, similar RNA-binding properties to their invertebrate counterparts and well-documented interactions with germ cell factors required for fertility. Here we report characterization of a gene trap mutation that disrupts the mouse Pumilio-2 (Pum2) gene. Our data confirm that Pumilio-2 is expressed most abundantly in germ cells with the highest expression in undifferentiated gonocytes and spermatogonia. Furthermore, the mutation in Pum2 results in significantly smaller testes although the mutants are otherwise viable and fertile. In addition, we observed no stronger reproductive defects on a genetic background homozygous for a Pum2 null mutation and heterozygous for a Dazl mutation than Pum2 mutant alone. Thus, as in C. elegans where single members of the Pumilio gene family are dispensable for reproductive development and viability, this individual member of the Pumilio gene family in mice is also not essential for reproduction or viability.
authors.affiliation: Division of Reproductive Biology Research, Department of Obstetrics and Gynecology, and Center for Genetic Medicine, Northwestern University, Chicago, Illinois 60611, USA.
authors.forename: Eugene Yujun
authors.initials: EY
authors.lastname: Xu
authors.forename: Rhoda
authors.initials: R
authors.lastname: Chang
authors.forename: Nicholas A
authors.initials: NA
authors.lastname: Salmon
authors.forename: Renee A
authors.initials: RA
authors.lastname: Reijo Pera
mesh_terms: D000818:Animals; D001921:Brain / Q000166:cytology / Q000378:metabolism; D029721:Drosophila Proteins / Q000235:genetics / Q000378:metabolism*; D005260:Female; D005298:Fertility; D017930:Genes, Reporter; D006801:Humans; D008098:Litter Size; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008822:Mice, Transgenic; D009154:Mutation; D010053:Ovary / Q000166:cytology / Q000378:metabolism; D011247:Pregnancy; D016601:RNA-Binding Proteins / Q000235:genetics / Q000378:metabolism*; D013093:Spermatogonia / Q000166:cytology / Q000378:metabolism; D013737:Testis / Q000033:anatomy & histology* / Q000378:metabolism
chemical_list: C508515:DAZL protein, mouse; D029721:Drosophila Proteins; C445087:Pum2 protein, mouse; D016601:RNA-Binding Proteins; C074333:pum protein, Drosophila