| Autor: |
Preston CC; a Genetics and Genomics, Sanford Research, 2301 E. 60th Street N., Sioux Falls, SD 57104, USA., Storm EC; a Genetics and Genomics, Sanford Research, 2301 E. 60th Street N., Sioux Falls, SD 57104, USA., Leonard RJ; a Genetics and Genomics, Sanford Research, 2301 E. 60th Street N., Sioux Falls, SD 57104, USA., Faustino RS; a Genetics and Genomics, Sanford Research, 2301 E. 60th Street N., Sioux Falls, SD 57104, USA.; b Department of Pediatrics, Sanford School of Medicine of the University of South Dakota, 1400 W. 22nd Street, Sioux Falls, SD 57105, USA. |
| Abstrakt: |
Nucleoporins are a specialized subset of nuclear proteins that comprise the nuclear pore complex and regulate nucleocytoplasmic transport. Recent demonstrations of roles for individual nucleoporins in multiple paradigms of differentiation via mechanisms independent of nuclear trafficking represent conceptual advances in understanding the contributions of nucleoporins to cellular development. Among these, a functional role for nucleoporins in reproductive fitness and gametogenesis has been identified, supported by robust models and clinical studies that leverage the power of next generation sequencing technology to identify reproductive-disease-associated mutations in specific nucleoporins. Proper nucleoporin function manifests in different ways during oogenesis and spermatogenesis. However, nonhuman models of gametogenesis may not recapitulate human mechanisms, which may confound translational interpretation and relevance. To circumvent these limitations, identification of reproductive pathologies in patients, combined with next generation sequencing approaches and advanced in silico tools, offers a powerful approach to investigate the potential function of nucleoporins in human reproduction. Ultimately, elucidating the role of nucleoporins in reproductive biology will provide opportunities for predictive, diagnostic, and therapeutic strategies to address reproductive disorders. |
