Villeneuve A M, Meyer B J
Department of Biology, Massachusetts Institute of Technology, Cambridge 02139.
Genetics. 1990 Jan;124(1):91-114. doi: 10.1093/genetics/124.1.91.
Our previous work demonstrated that mutations in the X-linked gene sdc-1 disrupt both sex determination and dosage compensation in Caenorhabditis elegans XX animals, suggesting that sdc-1 acts at a step that is shared by the sex determination and dosage compensation pathways prior to their divergence. In this report, we extend our understanding of early events in C. elegans sex determination and dosage compensation and the role played by sdc-1 in these processes. First, our analysis of 14 new sdc-1 alleles suggests that the phenotypes resulting from the lack of sdc-1 function are (1) an incompletely penetrant sexual transformation of XX animals toward the male fate, and (2) increased levels of X-linked gene transcripts in XX animals, correlated with XX-specific morphological defects but not significant XX-specific lethality. Further, all alleles exhibit strong maternal rescue for all phenotypes assayed. Second, temperature-shift experiments suggest that sdc-1 acts during the first half of embryogenesis in determining somatic sexual phenotype, long before sexual differentiation actually takes place, and consistent with our previous proposal that sdc-1 acts at an early step in the regulatory hierarchy controlling the choice of sexual fate. Other temperature-shift experiments suggest that sdc-1 may be involved in establishing but not maintaining the XX mode of dosage compensation. Third, a genetic mosaic analysis of sdc-1 produced an unusual result: the genotypic mosaics failed to display the sdc-1 sexual transformation phenotypes. This result suggests several possible interpretations: (1) sdc-1 is expressed immediately, in the one- or two-celled embryo; (2) sdc-1 acts non-cell-autonomously, such that expression of the gene in either the AB or P1 lineage can supply sdc-1(+) function to cells of the other lineage; (3) the X/A ratio is assessed immediately, in the one- or two-celled embryo; or (4) the X/A signal directs the choice of sexual fate in a non-cell-autonomous fashion. Finally, examination of the classes of sexual phenotypes produced in sdc-1 mutant strains suggests that different cells in the organism may not choose their sexual fates independently.
我们之前的研究表明,X连锁基因sdc-1的突变会破坏秀丽隐杆线虫XX动物的性别决定和剂量补偿,这表明sdc-1在性别决定和剂量补偿途径分化之前的一个共同步骤中发挥作用。在本报告中,我们扩展了对秀丽隐杆线虫性别决定和剂量补偿早期事件以及sdc-1在这些过程中所起作用的理解。首先,我们对14个新的sdc-1等位基因的分析表明,缺乏sdc-1功能所导致的表型为:(1)XX动物向雄性命运的不完全显性性转变;(2)XX动物中X连锁基因转录本水平升高,与XX特异性形态缺陷相关,但无显著的XX特异性致死性。此外,所有等位基因对所检测的所有表型均表现出强烈的母体拯救作用。其次,温度转换实验表明,sdc-1在胚胎发育的前半段决定体细胞性别表型时发挥作用,远在性别分化实际发生之前,这与我们之前提出的sdc-1在控制性别命运选择的调控层次中早期发挥作用的观点一致。其他温度转换实验表明,sdc-1可能参与建立但不维持XX剂量补偿模式。第三,对sdc-1的遗传嵌合体分析产生了一个不寻常的结果:基因型嵌合体未能表现出sdc-1性转变表型。这一结果提示了几种可能的解释:(1)sdc-1在单细胞或双细胞胚胎中立即表达;(2)sdc-1以非细胞自主方式发挥作用,使得该基因在AB或P1谱系中的表达能够为另一谱系的细胞提供sdc-1(+)功能;(3)在单细胞或双细胞胚胎中立即评估X/A比率;或(4)X/A信号以非细胞自主方式指导性别命运的选择。最后,对sdc-1突变体菌株产生的性别表型类别的检查表明,生物体中的不同细胞可能并非独立选择其性别命运。