Center for Systems and Synthetic Biology, Department of Molecular Biosciences, The University of Texas at Austin, Texas 78712.
Institute for Systems Genetics, Department of Biochemistry and Molecular Pharmacology, NYU Langone Health, New York 10016.
Genetics. 2020 Aug;215(4):1153-1169. doi: 10.1534/genetics.120.303378. Epub 2020 Jun 10.
Many gene families have been expanded by gene duplications along the human lineage, relative to ancestral opisthokonts, but the extent to which the duplicated genes function similarly is understudied. Here, we focused on structural cytoskeletal genes involved in critical cellular processes, including chromosome segregation, macromolecular transport, and cell shape maintenance. To determine functional redundancy and divergence of duplicated human genes, we systematically humanized the yeast actin, myosin, tubulin, and septin genes, testing ∼81% of human cytoskeletal genes across seven gene families for their ability to complement a growth defect induced by inactivation or deletion of the corresponding yeast ortholog. In five of seven families-all but α-tubulin and light myosin, we found at least one human gene capable of complementing loss of the yeast gene. Despite rescuing growth defects, we observed differential abilities of human genes to rescue cell morphology, meiosis, and mating defects. By comparing phenotypes of humanized strains with deletion phenotypes of their interaction partners, we identify instances of human genes in the actin and septin families capable of carrying out essential functions, but failing to fully complement the cytoskeletal roles of their yeast orthologs, thus leading to abnormal cell morphologies. Overall, we show that duplicated human cytoskeletal genes appear to have diverged such that only a few human genes within each family are capable of replacing the essential roles of their yeast orthologs. The resulting yeast strains with humanized cytoskeletal components now provide surrogate platforms to characterize human genes in simplified eukaryotic contexts.
许多基因家族在人类谱系中通过基因复制相对于祖先后生动物发生了扩张,但复制基因的功能相似程度仍未得到充分研究。在这里,我们专注于参与关键细胞过程的结构细胞骨架基因,包括染色体分离、大分子运输和细胞形状维持。为了确定复制人类基因的功能冗余和分化,我们系统地将酵母肌动蛋白、肌球蛋白、微管蛋白和隔蛋白基因进行了人源化,针对七个基因家族中的 81%的人类细胞骨架基因进行了测试,以确定它们是否能够弥补相应酵母同源物失活或缺失引起的生长缺陷。在七个家族中的五个家族中-除了α-微管蛋白和轻肌球蛋白之外,我们发现至少有一种人类基因能够弥补酵母基因的缺失。尽管能够挽救生长缺陷,但我们观察到人类基因拯救细胞形态、减数分裂和交配缺陷的能力存在差异。通过比较人源化菌株与相互作用伙伴缺失表型,我们鉴定出肌动蛋白和隔蛋白家族中的人类基因能够执行基本功能,但不能完全替代其酵母同源物的细胞骨架作用,从而导致异常的细胞形态。总体而言,我们表明复制的人类细胞骨架基因似乎已经分化,以至于每个家族中只有少数几个人类基因能够取代其酵母同源物的基本作用。具有人源化细胞骨架成分的酵母菌株现在提供了简化真核生物背景下表征人类基因的替代平台。