Yasuda G K, Schubiger G, Wakimoto B T
Department of Zoology, University of Washington, Seattle 98195-1800, USA.
Genetics. 1995 May;140(1):219-29. doi: 10.1093/genetics/140.1.219.
The vast majority of known male sterile mutants of Drosophila melanogaster fail to produce mature sperm or mate properly. The ms(3) K81(1) mutation is one of a rare class of male sterile mutations in which sterility is caused by developmental arrest after sperm entry into the egg. Previous studies showed that males homozygous for the K81(1) mutation produce progeny that arrest at either of two developmental stages. Most embryos arrest during early nuclear cycles, whereas the remainder are haploid embryos that arrest at a later stage. This description of the mutant phenotype was based on the analysis of a single allele isolated from a natural population. It was therefore unclear whether this unique paternal effect phenotype reflected the normal function of the gene. The genetic analysis and initial molecular characterization of five new K81 mutations are described here. Hemizygous conditions and heteroallelic combinations of the alleles were associated with male sterility caused by defects in embryogenesis. No other mutant phenotypes were observed. Thus, the K81 gene acted as a strict paternal effect gene. Moreover, the biphasic pattern of developmental arrest was common to all the alleles. These findings strongly suggested that the unusual embryonic phenotype caused by all five new alleles was due to loss of function of the K81+ gene. The K81 gene is therefore the first clear example of a strict paternal effect gene in Drosophila. Based on the embryonic lethal phenotypes, we suggest that the K81+ gene encodes a sperm-specific product that is essential for the male pronucleus to participate in the first few embryonic nuclear divisions.
绝大多数已知的黑腹果蝇雄性不育突变体无法产生成熟精子或正常交配。ms(3)K81(1)突变是一类罕见的雄性不育突变之一,其不育是由精子进入卵子后发育停滞所致。先前的研究表明,K81(1)突变纯合雄性产生的后代会在两个发育阶段中的任一阶段停滞发育。大多数胚胎在早期核周期中停滞,而其余的则是在后期停滞的单倍体胚胎。对突变体表型的这一描述是基于对从自然种群中分离出的单个等位基因的分析。因此,尚不清楚这种独特的父本效应表型是否反映了该基因的正常功能。本文描述了五个新的K81突变的遗传分析和初步分子特征。等位基因的半合子状态和异等位基因组合与胚胎发生缺陷导致的雄性不育有关。未观察到其他突变体表型。因此,K81基因作为一个严格的父本效应基因发挥作用。此外,发育停滞的双相模式在所有等位基因中都很常见。这些发现强烈表明,所有五个新等位基因导致的异常胚胎表型是由于K81+基因功能丧失所致。因此,K81基因是果蝇中第一个明确的严格父本效应基因的例子。基于胚胎致死表型,我们认为K81+基因编码一种精子特异性产物,该产物对于雄原核参与最初几次胚胎核分裂至关重要。