Department of Biomolecular Medicine, Ghent University, Albert Baertsoenkaai 3, B-9000 Ghent, Belgium.
Department of Diagnostic Sciences, Ghent University Hospital, Ghent University, Corneel Heymanslaan 10, B-9000 Ghent, Belgium.
Int J Mol Sci. 2020 Apr 27;21(9):3093. doi: 10.3390/ijms21093093.
Mutations in actins have been linked to several developmental diseases. Their occurrence across different cancers has, however, not been investigated. Using the cBioPortal database we show that human actins are infrequently mutated in patient samples of various cancers types. Nevertheless, ranking these studies by mutational frequency suggest that some have a higher percentage of patients with and mutations. Within studies on hematological cancers, mutations in and are associated with lymphoid cancers since none have currently been reported in myeloid cancers. Within the different types of lymphoid cancers mutations are most frequent in diffuse large B-cell lymphoma (DLBCL) and mutations in multiple myeloma. We mapped the ACTB and ACTG1 mutations found in these two cancer types on the 3D-structure of actin showing they are in regions important for actin polymer formation or binding to myosin. The potential effects of the mutations on actin properties imply that mutations in cytoplasmic actins deserve dedicated research in DLBCL and multiple myeloma.
肌动蛋白突变与多种发育性疾病相关。然而,目前尚未研究这些突变在不同癌症中的发生情况。我们使用 cBioPortal 数据库表明,在各种癌症类型的患者样本中,人类肌动蛋白很少发生突变。尽管如此,通过突变频率对这些研究进行排名表明,一些研究中 和 突变的患者比例更高。在血液系统癌症的研究中, 和 突变与淋巴癌相关,因为目前尚未在髓性癌症中报道这些突变。在不同类型的淋巴癌中, 突变在弥漫性大 B 细胞淋巴瘤(DLBCL)中最为常见,而 突变在多发性骨髓瘤中更为常见。我们将这两种癌症类型中发现的 ACTB 和 ACTG1 突变映射到肌动蛋白的 3D 结构上,表明它们位于对肌动蛋白聚合形成或与肌球蛋白结合很重要的区域。这些突变对肌动蛋白特性的潜在影响表明,细胞质肌动蛋白的突变值得在 DLBCL 和多发性骨髓瘤中进行专门研究。