Reig-Viader Rita, Garcia-Caldés Montserrat, Ruiz-Herrera Aurora
Departament de Biologia Cel.lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Campus UAB, 08193, Cerdanyola del Vallès, Spain.
Genome Integrity and Instability Group, Institut de Biotecnologia i Biomedicina, Universitat Autònoma de Barcelona, Campus UAB, 08193, Cerdanyola del Vallès, Spain.
Chromosoma. 2016 Jun;125(2):337-51. doi: 10.1007/s00412-015-0555-4. Epub 2015 Nov 2.
Telomeres protect against genome instability and participate in chromosomal movements during gametogenesis, especially in meiosis. Thus, maintaining telomere structure and telomeric length is essential to both cell integrity and the production of germ cells. As a result, alteration of telomere homeostasis in the germ line may result in the generation of aneuploid gametes or gametogenesis disruption, triggering fertility problems. In this work, we provide an overview on fundamental aspects of the literature regarding the organization of telomeres in mammalian germ cells, paying special attention to telomere structure and function, as well as the maintenance of telomeric length during gametogenesis. Moreover, we discuss the different roles recently described for telomerase and TERRA in maintaining telomere functionality. Finally, we review how new findings in the field of reproductive biology underscore the role of telomere homeostasis as a potential biomarker for infertility. Overall, we anticipate that the study of telomere stability and equilibrium will contribute to improve diagnoses of patients; assess the risk of infertility in the offspring; and in turn, find new treatments.
端粒可防止基因组不稳定，并在配子发生过程中参与染色体运动，尤其是在减数分裂中。因此，维持端粒结构和端粒长度对于细胞完整性和生殖细胞的产生都至关重要。结果，生殖系中端粒稳态的改变可能导致非整倍体配子的产生或配子发生中断，引发生育问题。在这项工作中，我们概述了有关哺乳动物生殖细胞中端粒组织的文献的基本方面，特别关注端粒结构和功能，以及配子发生过程中端粒长度的维持。此外，我们讨论了最近描述的端粒酶和TERRA在维持端粒功能方面的不同作用。最后，我们回顾了生殖生物学领域的新发现如何强调端粒稳态作为不孕症潜在生物标志物的作用。总体而言，我们预计端粒稳定性和平衡的研究将有助于改善患者诊断；评估后代不孕的风险；进而找到新的治疗方法。
