Department of Life Science and College of Natural Sciences, Ewha Womans University, Seoul, Republic of Korea.
Laboratory Animal Resource Center Korea ResearchInstitute of Bioscience and Biotechnology, Chungbuk, Republic of Korea.
Elife. 2021 Aug 6;10:e65952. doi: 10.7554/eLife.65952.
Amino-terminal acetylation is catalyzed by a set of N-terminal acetyltransferases (NATs). The NatA complex (including X-linked Naa10 and Naa15) is the major acetyltransferase, with 40-50% of all mammalian proteins being potential substrates. However, the overall role of amino-terminal acetylation on a whole-organism level is poorly understood, particularly in mammals. Male mice lacking show no globally apparent in vivo amino-terminal acetylation impairment and do not exhibit complete embryonic lethality. Rather nulls display increased neonatal lethality, and the majority of surviving undersized mutants exhibit a combination of hydrocephaly, cardiac defects, homeotic anterior transformation, piebaldism, and urogenital anomalies. is a previously unannotated -like paralog with NAT activity that genetically compensates for . Mice deficient for have no apparent phenotype, whereas mice deficient for and display embryonic lethality. The discovery of adds to the currently known machinery involved in amino-terminal acetylation in mice.
N 端乙酰化是由一组 N 端乙酰转移酶（NATs）催化的。NatA 复合物（包括 X 连锁的 Naa10 和 Naa15）是主要的乙酰转移酶，所有哺乳动物蛋白中有 40-50%可能是其底物。然而，在整体生物体水平上，N 端乙酰化的总体作用还知之甚少，特别是在哺乳动物中。缺乏 的雄性小鼠在体内没有明显的整体 N 端乙酰化损伤，也没有表现出完全的胚胎致死性。相反， 缺失的新生鼠致死率增加，大多数幸存的体型过小的突变体表现出头颅积水、心脏缺陷、同源性前转化、斑驳病和泌尿生殖系统异常的综合症状。 是一个以前未注释的与 NAT 活性相关的类似物，它在遗传上补偿了 。缺乏 的小鼠没有明显的表型，而缺乏 和 的小鼠则表现出胚胎致死性。 的发现增加了目前已知的在小鼠中参与 N 端乙酰化的机制。
