...Alexis Garretson; Beth L. Dumont; Mary Ann Handel ABSTRACT Genetic analyses of mammalian gametogenesis and fertility have the potential to inform about two important and interrelated clinical areas: infertility and contraception. Here, we address the genetics and genomics underlying gamete...

...Abhishek Seth; Juan C. Bournat; Olga Medina-Martinez; Armando Rivera; Joshua Moore; Hunter Flores; Jill A. Rosenfeld; Liya Hu; Carolina J. Jorgez ABSTRACT Undescended testis (UDT) affects 6% of male births. Despite surgical correction, some men with unilateral UDT may experience infertility...

... to result in blockage of autophagic flux, which could explain the failure in acrosome formation. In vitro fertilization demonstrated that PFN4-deficient sperm is capable of fertilizing zona-free oocytes, suggesting a potential treatment for PFN4-related human infertility. * Present address...

... by protamines. In humans and mice, protamine 1 ( PRM1 / Prm1 ) and protamine 2 ( PRM2 / Prm2 ) are expressed in a species-specific ratio. Using CRISPR-Cas9-mediated gene editing, we generated Prm1 -deficient mice and demonstrated that Prm1 +/− mice were subfertile, whereas Prm1 −/− mice were infertile. Prm1...

... Alternative splicing Uncoupling of transcription and translation Infertility Mouse National Key Research and Development Program of China http://dx.doi.org/10.13039/501100012166 2021YFC2700200 2018YFC1003500 Science, Technology, and Innovation Commission of Shenzhen Municipality...

... Ltd 2021 Summary: PRSS50 is a potential genetic factor in MMAF male infertility. Mice lacking this gene have multiple sperm morphological defects, including a novel conjoined phenotype, and impaired fertility. PRSS50 LRWD1 NFκB IκB AKAP4 SEPT12 H3K9me3 Infertility MMAF...

...Carolina J. Jorgez; Abhishek Seth; Nathan Wilken; Juan C. Bournat; Ching H. Chen; Dolores J. Lamb ABSTRACT Cryptorchidism is the most common urologic birth defect in men and is a predisposing factor of male infertility and testicular cancer, yet the etiology remains largely unknown. E2F1...

...% of males these checkpoints cause complete meiotic arrest leading to azoospermia and subsequent infertility. Here, we unravel two clearly distinct meiotic arrest mechanisms that occur during prophase of human male meiosis. Type I arrested spermatocytes display severe asynapsis of the homologous chromosomes...

... and proteins produced from seminiferous tubules. Gpr48 -null male mice demonstrate reproductive tract defects and infertility. In the present study, we found that estrogen receptor α (ERα) was dramatically reduced in the epididymis and efferent ducts in Gpr48 -null male mice. We further revealed that ERα could...

... a Drosophila homolog of human PARK2 and characterized its expression and null phenotype. parkin null flies have 30% lower mass than wild-type controls which is in part accounted for by a reduced cell size and number. In addition, these flies are infertile, show significantly reduced longevity, and are unable...

... no. 135( Fig. 1B ) was injected into C57Bl/6 blastocysts. Two chimeric founder males were obtained and mated with wild-type BALB/c females to establish two independent colonies. Since female Tnfip6 –/– mice were infertile, the colonies were maintained by mating Tnfip6 +/– or Tnfip6 –/– males...

.... There are likely multiple factors that contribute to this complex phenotype. We have shown that changes in hormone levels and reduction in testes-specific transcription may account for some of the observed infertility. We observed a heterogeneity between homozygous JunD −/− males, with a clear deterioration...

... that they were phenotypically normal with the exception that males, but not females, were infertile. Egr4 is expressed at low levels within male germ cells during meiosis and is critical for germ cell maturation during the early-mid pachytene stage. While most Egr4 null male germ cells undergo apoptosis during...

... visibly pregnant or produced offspring. These results demonstrate that a genetic defect in a zona pellucida gene causes infertility and, given the conserved nature of the zona pellucida, a similar phenotype is expected in other mammals. The mouse zona pellucida is composed of three sulfated...