Ccer1 is a spermatid-specific gene required for spermatogenesis and male fertility.

Bianca Sammer, Philomena Schmid, Haruhiko Miyata, Samina Kazi, Anna-Liisa Honkimaa, Petar Petrov, Emmi Kapiainen, Ilkka Miinalainen, Valerio Izzi, Masahito Ikawa, Renata Prunskaite-Hyyryläinen
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Abstract

Male infertility is a multifactorial condition for which the underlying causes frequently remain undefined. Genetic factors have long been associated with male fertility. However, many of them are poorly or not at all characterized and their biological functions are unknown. Identifying the key genes behind male infertility is crucial for improving prognosis and treatment options, as well as for evaluating the risk of passing on genetic defects through natural or assisted reproductive methods to the next generation. Here, we have studied the Coiled-coil domain-containing glutamate-rich protein 1 (Ccer1), a poorly characterized gene specific to vertebrates. We demonstrate that it is enriched during spermiogenesis in spermatids in both mice and humans. The studied Ccer1 knockout mice exhibit significant subfertility due to the absence of Ccer1 function, which leads to altered sperm head and tail ultrastructure. This study defines Ccer1 as a spermatid-specific gene critical for spermiogenesis, suggesting it would be worthwhile inspecting when there is a suspicion of male infertility associated with genetic causes.

Ccer1是精子发生和男性生育所需的精子特异性基因。
男性不育症是一个多因素的条件,其根本原因往往仍不明确。遗传因素长期以来一直与男性生育能力有关。然而,它们中的许多都很少或根本没有被表征,它们的生物学功能也是未知的。确定男性不育背后的关键基因对于改善预后和治疗方案,以及评估通过自然或辅助生殖方法将遗传缺陷传递给下一代的风险至关重要。在这里,我们研究了含有谷氨酸丰富蛋白1 (Ccer1)的螺旋结构域,这是一个脊椎动物特有的特征较差的基因。我们证明,在小鼠和人类的精子发生过程中,它都是富集的。所研究的Ccer1基因敲除小鼠由于缺乏Ccer1功能而表现出明显的低生育能力,导致精子头尾超微结构改变。本研究将Ccer1定义为精细胞特异性基因,对精子发生至关重要,这表明当怀疑男性不育与遗传原因有关时,值得对其进行检查。
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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