The NANOS RNA-binding protein variants: a model for understanding human infertility.

IF 1.9 3区 生物学 Q3 BIOTECHNOLOGY & APPLIED MICROBIOLOGY
Amanda Kunik, Bellary Lakshmi, Jadwiga Jaruzelska, Kamila Kusz-Zamelczyk
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引用次数: 0

Abstract

Infertility remains a significant global health challenge. With up to one in seven couples affected worldwide, the inability to conceive has become a major concern for reproductive health. Many causes of infertility are linked to genetic variants that are disruptive for germ cell homeostasis. Using causative variants to model human infertility can improve our understanding of the molecular pathways that regulate germ cell development. One notable example is the germ cell morphogen NANOS, which is highly conserved across species. Variants of NANOS are associated with infertility in various animal models, from Drosophila to humans. Here, we examine how modelling human infertility based on NANOS variants can offer insights into the molecular processes underlying germ cell development. Ultimately, uncovering the molecular basis of human infertility through this approach is vital for developing advanced diagnostic methods and therapeutic options in the future.

NANOS rna结合蛋白变异:理解人类不孕症的模型。
不孕症仍然是一个重大的全球健康挑战。全世界有多达七分之一的夫妇受到影响,无法怀孕已成为生殖健康的一个主要问题。不孕不育的许多原因都与破坏生殖细胞稳态的遗传变异有关。使用致病变异来模拟人类不孕症可以提高我们对调节生殖细胞发育的分子途径的理解。一个值得注意的例子是生殖细胞形态原NANOS,它在物种间高度保守。在从果蝇到人类的各种动物模型中,NANOS的变异与不孕有关。在这里,我们研究了基于NANOS变异的人类不孕症建模如何为生殖细胞发育的分子过程提供见解。最终,通过这种方法揭示人类不孕症的分子基础对于未来开发先进的诊断方法和治疗方案至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Journal of Applied Genetics
Journal of Applied Genetics 生物-生物工程与应用微生物
CiteScore
4.30
自引率
4.20%
发文量
62
审稿时长
6-12 weeks
期刊介绍: The Journal of Applied Genetics is an international journal on genetics and genomics. It publishes peer-reviewed original papers, short communications (including case reports) and review articles focused on the research of applicative aspects of plant, human, animal and microbial genetics and genomics.
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