Department of Biochemistry and Molecular Biology, Robert Wood Johnson Medical School, Rutgers University, Piscataway, New Jersey 08854
J Biol Chem. 2019 Sep 27;294(39):14201-14202. doi: 10.1074/jbc.H119.010864.
Mutations affecting the SECISBP2 protein necessary for selenocysteine incorporation are linked to human disease, but with a wide range of clinical outcomes. To gain insight into this diversity, Zhao dissect the phenotypic and molecular consequences of two specific mutations in the gene that partially disrupt selenoprotein synthesis. They observe surprising tissue-dependent effects, emphasizing the complexities of translational science.
影响 SECISBP2 蛋白的突变与人类疾病有关,但临床结果差异很大。为了深入了解这种多样性,Zhao 分析了该基因中两个特定突变的表型和分子后果,这些突变部分破坏了硒蛋白的合成。他们观察到令人惊讶的组织依赖性影响,强调了翻译科学的复杂性。