Genetics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA.
Mol Biol Cell. 2013 Sep;24(17):2753-63. doi: 10.1091/mbc.E12-12-0902. Epub 2013 Jul 3.
How subunit dosage contributes to the assembly and function of multimeric complexes is an important question with implications in understanding biochemical, evolutionary, and disease mechanisms. Toward identifying pathways that are susceptible to decreased gene dosage, we performed a genome-wide screen for haploinsufficient (HI) genes that guard against genome instability in Saccharomyces cerevisiae. This led to the identification of all three genes (SPC97, SPC98, and TUB4) encoding the evolutionarily conserved γ-tubulin small complex (γ-TuSC), which nucleates microtubule assembly. We found that hemizygous γ-TuSC mutants exhibit higher rates of chromosome loss and increases in anaphase spindle length and elongation velocities. Fluorescence microscopy, fluorescence recovery after photobleaching, electron tomography, and model convolution simulation of spc98/+ mutants revealed improper regulation of interpolar (iMT) and kinetochore (kMT) microtubules in anaphase. The underlying cause is likely due to reduced levels of Tub4, as overexpression of TUB4 suppressed the spindle and chromosome segregation defects in spc98/+ mutants. We propose that γ-TuSC is crucial for balanced assembly between iMTs and kMTs for spindle organization and accurate chromosome segregation. Taken together, the results show how gene dosage studies provide critical insights into the assembly and function of multisubunit complexes that may not be revealed by using traditional studies with haploid gene deletion or conditional alleles.
亚基剂量如何促进多聚体复合物的组装和功能是一个重要的问题,这对理解生化、进化和疾病机制具有重要意义。为了确定易受基因剂量降低影响的途径,我们在酿酒酵母中进行了全基因组筛选,以寻找防止基因组不稳定性的杂合子不足(HI)基因。这导致了鉴定出编码进化上保守的γ-微管蛋白小复合物(γ-TuSC)的三个基因(SPC97、SPC98 和 TUB4),γ-TuSC 是微管组装的核心。我们发现杂合子γ-TuSC 突变体表现出更高的染色体丢失率以及后期纺锤体长度和伸长速度的增加。荧光显微镜、光漂白后荧光恢复、电子断层扫描和 spc98/+ 突变体的模型卷积模拟显示,后期的极间(iMT)和动粒(kMT)微管的调控不当。其根本原因可能是由于 Tub4 水平降低,因为 TUB4 的过表达抑制了 spc98/+ 突变体的纺锤体和染色体分离缺陷。我们提出,γ-TuSC 对于 iMT 和 kMT 之间的平衡组装对于纺锤体组织和准确的染色体分离至关重要。总之,这些结果表明基因剂量研究如何为多亚基复合物的组装和功能提供关键见解,而这些见解可能无法通过使用传统的单倍体基因缺失或条件等位基因研究来揭示。