Gurjar Anushree, Krauchunas Amber R
Biological Sciences, University of Delaware, Newark, Delaware, United States.
MicroPubl Biol. 2025 Mar 24;2025. doi: 10.17912/micropub.biology.001523. eCollection 2025.
CATP-4 is a subunit of a Na /K -ATPase important for sperm motility and fertility. Here, we report the characterization of a new allele of isolated from a forward genetic screen for sterile mutants. The allele has a missense mutation that substitutes a highly conserved Glycine which lies close to an ATP binding site. This mutation results in a loss-of-function phenotype comparable to that of the null alleles, emphasizing the importance of this residue for CATP-4 function. This is for the first time that a phenotype has been reported for a single missense mutation in the gene.
CATP-4是Na⁺/K⁺-ATP酶的一个亚基,对精子活力和生育能力很重要。在此,我们报告了从不育突变体正向遗传筛选中分离出的一个新等位基因的特征。该等位基因有一个错义突变,取代了靠近ATP结合位点的一个高度保守的甘氨酸。这种突变导致了与无效等位基因相当的功能丧失表型,强调了该残基对CATP-4功能的重要性。这是首次报道该基因单个错义突变的表型。