Β-肌动蛋白
β-肌动蛋白，人体内由ACTB基因编码，是肌动蛋白的六种蛋白异构体之一。β-肌动蛋白是一种进化上高度保守的蛋白，与细胞的结构维持、移动，以及与所处环境之间的整合高度相关[6][7]。
在肌动蛋白的六种异构体中，β-肌动蛋白是两种存在于肌肉组织之外的肌动蛋白之一（另一种是由ACTG1基因编码的γ-肌动蛋白）[8]。
功能
[编辑]β-肌动蛋白是构成微丝的蛋白之一，在细胞中有单体与多聚体（即聚合形成微丝的状态）两种存在状态[9]。β-肌动蛋白与细胞的移动、结构维持等过程密切相关，过表达β-肌动蛋白会导致细胞形态出现异常[10]，纯合敲除β-肌动蛋白的编码基因Actb则会导致小鼠胚胎致死。此外，β-肌动蛋白也是细胞基因调控网络的中间因子之一[11]。
与临床医学的关系
[编辑]有证据表明，β-肌动蛋白的编码基因ACTB突变与弥漫大B细胞淋巴瘤的发生有关[12]。此外，也存有关于β-肌动蛋白的编码基因ACTB突变导致严重发育异常、耳聋和青少年发作性肌张力障碍等病征的案例报告[13]。
应用
[编辑]作为一种看家基因，因β-肌动蛋白在不同细胞之间的表达水平相对稳定，β-肌动蛋白常常在蛋白免疫印迹（Western Blotting）实验中用作内参蛋白，用于半定性表示不同样品之间总蛋白量的差异[14]。因为类似的原因，编码β-肌动蛋白的ACTB基因也常常在qPCR实验中被选为内参基因[15][16]。
参见
[编辑]- γ-肌动蛋白
- 部分常见的参考基因/参考蛋白：
- 甘油醛-3-磷酸脱氢酶（GAPDH）
- 次黄嘌呤-鸟嘌呤磷酸核苷转移酶（HPRT）
- RPL7
参考文献
[编辑]- ^ 與Β-肌动蛋白相關的疾病；在維基數據上查看/編輯參考.
- ^ 2.0 2.1 2.2 GRCh38: Ensembl release 89: ENSG00000075624 - Ensembl, May 2017
- ^ 3.0 3.1 3.2 GRCm38: Ensembl release 89: ENSMUSG00000062825 - Ensembl, May 2017
- ^ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Gunning PW, Ghoshdastider U, Whitaker S, Popp D, Robinson RC. The evolution of compositionally and functionally distinct actin filaments. Journal of Cell Science. Jun 2015, 128 (11): 2009–2019. PMID 25788699. doi:10.1242/jcs.165563.
- ^ Hanukoglu I, Tanese N, Fuchs E. Complementary DNA sequence of a human cytoplasmic actin. Interspecies divergence of 3' non-coding regions. Journal of Molecular Biology. Feb 1983, 163 (4): 673–8. PMID 6842590. doi:10.1016/0022-2836(83)90117-1.
- ^ Rønnov-Jessen, L; Petersen, O W. A function for filamentous alpha-smooth muscle actin: retardation of motility in fibroblasts.. Journal of Cell Biology. 1996, 134 (1): 67–80. ISSN 0021-9525. doi:10.1083/jcb.134.1.67.
- ^ Drazic, Adrian; Aksnes, Henriette; Marie, Michaël; Boczkowska, Malgorzata; Varland, Sylvia; Timmerman, Evy; Foyn, Håvard; Glomnes, Nina; Rebowski, Grzegorz; Impens, Francis; Gevaert, Kris; Dominguez, Roberto; Arnesen, Thomas. NAA80 is actin’s N-terminal acetyltransferase and regulates cytoskeleton assembly and cell motility. Proceedings of the National Academy of Sciences. 2018, 115 (17): 4399–4404. ISSN 0027-8424. doi:10.1073/pnas.1718336115.
- ^ M Peckham; G Miller; et al. Specific changes to the mechanism of cell locomotion induced by overexpression of beta-actin. Journal of Cell Science. 2001, 114: 1367-77 [2021-05-02]. PMID 11257002. （原始内容存档于2021-05-25）.
- ^ Bunnell, Tina M.; Burbach, Brandon J.; Shimizu, Yoji; Ervasti, James M.; Forscher, Paul. β-Actin specifically controls cell growth, migration, and the G-actin pool. Molecular Biology of the Cell. 2011, 22 (21): 4047–4058. ISSN 1059-1524. doi:10.1091/mbc.e11-06-0582.
- ^ Lohr JG, Stojanov P, Lawrence MS, Auclair D, Chapuy B, Sougnez C, Cruz-Gordillo P, Knoechel B, Asmann YW, Slager SL, Novak AJ, Dogan A, Ansell SM, Link BK, Zou L, Gould J, Saksena G, Stransky N, Rangel-Escareño C, Fernandez-Lopez JC, Hidalgo-Miranda A, Melendez-Zajgla J, Hernández-Lemus E, Schwarz-Cruz y Celis A, Imaz-Rosshandler I, Ojesina AI, Jung J, Pedamallu CS, Lander ES, Habermann TM, Cerhan JR, Shipp MA, Getz G, Golub TR. Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing. Proceedings of the National Academy of Sciences of the United States of America. Mar 2012, 109 (10): 3879–84. Bibcode:2012PNAS..109.3879L. PMC 3309757
. PMID 22343534. doi:10.1073/pnas.1121343109.
- ^ Aleksandra Simiczyjew; Katarzyna Pietraszek-Gremplewicz; Antonina Joanna Mazur; Dorota Nowak. Are non-muscle actin isoforms functionally equivalent? (PDF). Histol Histopathol. 2017, 32: 1125-1139 [2021-05-02]. doi:10.14670/HH-11-896. （原始内容存档 (PDF)于2017-11-16）.
- ^ Panina, Yulia; Germond, Arno; Masui, Shinji; Watanabe, Tomonobu M. Validation of Common Housekeeping Genes as Reference for qPCR Gene Expression Analysis During iPS Reprogramming Process. Scientific Reports. 2018, 8 (1). ISSN 2045-2322. doi:10.1038/s41598-018-26707-8.
- ^ Roy, Justin G.; McElhaney, Janet E.; Verschoor, Chris P. Reliable reference genes for the quantification of mRNA in human T-cells and PBMCs stimulated with live influenza virus. BMC Immunology. 2020, 21 (1). ISSN 1471-2172. doi:10.1186/s12865-020-0334-8.
- ^ Kozera, Bartłomiej; Rapacz, Marcin. Reference genes in real-time PCR. Journal of Applied Genetics. 2013, 54 (4): 391–406. ISSN 1234-1983. doi:10.1007/s13353-013-0173-x.
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