Université Côte d'Azur, CNRS, Inserm, IBV, Nice 06100, France.
Instituto Gulbenkian de Ciencia, 2780-156 Oeiras, Portugal.
Genetics. 2019 Oct;213(2):615-632. doi: 10.1534/genetics.119.302462. Epub 2019 Aug 8.
The diversity in sperm shape and size represents a powerful paradigm to understand how selection drives the evolutionary diversification of cell morphology. Experimental work on the sperm biology of the male-hermaphrodite nematode has elucidated diverse factors important for sperm fertilization success, including the competitive superiority of larger sperm. Yet despite extensive research, the molecular mechanisms regulating sperm size and the genetic basis underlying natural variation in sperm size remain unknown. To address these questions, we quantified male sperm size variation of a worldwide panel of 97 genetically distinct strains, allowing us to uncover significant genetic variation in male sperm size. Aiming to characterize the molecular genetic basis of male sperm size variation using a genome-wide association study, we did not detect any significant quantitative trait loci. We therefore focused on the genetic analysis of pronounced sperm size differences observed between recently diverged laboratory strains (N2 LSJ1/2). Using mutants and quantitative complementation tests, we demonstrate that variation in the gene underlies the evolution of small sperm in the LSJ lineage. Given the previous discovery that this same variation was central for hermaphrodite laboratory adaptation, the evolution of reduced male sperm size in LSJ strains likely reflects a pleiotropic consequence. Together, our results provide a comprehensive quantification of natural variation in sperm size and first insights into the genetic determinants of sperm size, pointing at an involvement of the NURF chromatin remodeling complex.
精子形状和大小的多样性代表了一个强有力的范例,可以帮助我们理解选择如何驱动细胞形态的进化多样化。对雄性雌雄同体线虫的精子生物学的实验研究阐明了许多对精子受精成功很重要的因素,包括更大的精子具有竞争优势。然而,尽管进行了广泛的研究,但调节精子大小的分子机制以及精子大小自然变异的遗传基础仍然未知。为了解决这些问题,我们对来自全球的 97 个具有不同遗传背景的品系的雄性精子大小变异进行了定量分析,从而揭示了雄性精子大小的显著遗传变异。为了使用全基因组关联研究来描述雄性精子大小变异的分子遗传基础,我们没有检测到任何显著的数量性状位点。因此,我们专注于对最近分化的实验室菌株(N2 LSJ1/2)之间观察到的明显精子大小差异的遗传分析。通过使用突变体和定量互补测试,我们证明了基因的变异是 LSJ 谱系中小精子进化的基础。鉴于之前的发现,即同一变异对于雌雄同体实验室适应至关重要,LSJ 菌株中雄性精子大小的减少可能反映了多效性的后果。总之,我们的研究结果全面量化了精子大小的自然变异,并首次深入了解了精子大小的遗传决定因素,表明 NURF 染色质重塑复合物的参与。