Β-肌動蛋白
位於7號人類染色體的基因
β-肌動蛋白,人體內由ACTB基因編碼,是肌動蛋白的六種蛋白異構體之一。β-肌動蛋白是一種進化上高度保守的蛋白,與細胞的結構維持、移動,以及與所處環境之間的整合高度相關[6][7]。
在肌動蛋白的六種異構體中,β-肌動蛋白是兩種存在於肌肉組織之外的肌動蛋白之一(另一種是由ACTG1基因編碼的γ-肌動蛋白)[8]。
功能
編輯β-肌動蛋白是構成微絲的蛋白之一,在細胞中有單體與多聚體(即聚合形成微絲的狀態)兩種存在狀態[9]。β-肌動蛋白與細胞的移動、結構維持等過程密切相關,過表達β-肌動蛋白會導致細胞形態出現異常[10],純合敲除β-肌動蛋白的編碼基因Actb則會導致小鼠胚胎致死。此外,β-肌動蛋白也是細胞基因調控網絡的中間因子之一[11]。
與臨床醫學的關係
編輯有證據表明,β-肌動蛋白的編碼基因ACTB突變與瀰漫大B細胞淋巴瘤的發生有關[12]。此外,也存有關於β-肌動蛋白的編碼基因ACTB突變導致嚴重發育異常、耳聾和青少年發作性肌張力障礙等病徵的案例報告[13]。
應用
編輯作為一種看家基因,因β-肌動蛋白在不同細胞之間的表達水平相對穩定,β-肌動蛋白常常在蛋白免疫印跡(Western Blotting)實驗中用作內參蛋白,用於半定性表示不同樣品之間總蛋白量的差異[14]。因為類似的原因,編碼β-肌動蛋白的ACTB基因也常常在qPCR實驗中被選為內參基因[15][16]。
參見
編輯- γ-肌動蛋白
- 部分常見的參考基因/參考蛋白:
- 甘油醛-3-磷酸脫氫酶(GAPDH)
- 次黃嘌呤-鳥嘌呤磷酸核苷轉移酶(HPRT)
- RPL7
參考文獻
編輯- ^ 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. (原始內容存檔於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. (原始內容存檔 (PDF)於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.