Kweon, Hyae Yon Lee, Mi-Ni Dorfel, Max Seo, Seungwoon Gottlieb, Leah PaPazyan, Thomas McTiernan, Nina Ree, Rasmus Bolton, David Garcia, Andrew Flory, Michael Crain, Jonathan Sebold, Alison Lyons, Scott Ismail, Ahmed Marchi, Elaine Sonn, Seong-Keun Jeong, Se-Jin Jeon, Sejin Ju, Shinyeong Conway, Simon J. Kim, Taesoo Kim, Hyun-Seok Lee, Cheolju Roh, Tae-Young Arnesen, Thomas Marmorstein, Ronen Oh, Goo Taeg Lyon, Gholson J. 2024-01-19T14:02:22Z 2024-01-19T14:02:22Z 2022-01-10 2021-08-06 2050-084X https://pubs.kist.re.kr/handle/201004/116592 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 Naa10 show no globally apparent in vivo amino-terminal acetylation impairment and do not exhibit complete embryonic lethality. Rather Naa10 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. Naa12 is a previously unannotated Naa10-like paralog with NAT activity that genetically compensates for Naa10. Mice deficient for Naa12 have no apparent phenotype, whereas mice deficient for Naa10 and Naa12 display embryonic lethality. The discovery of Naa12 adds to the currently known machinery involved in amino-terminal acetylation in mice. English ELIFE SCIENCES PUBLICATIONS LTD N-ALPHA-ACETYLTRANSFERASE CARDIAC NEURAL CREST CERVICAL-VERTEBRAE PROTEIN PAX3 MOUSE GENE IDENTIFICATION MUTANT ARD1 Naa12 compensates for Naa10 in mice in the amino-terminal acetylation pathway Article 10.7554/eLife.65952 1 ELIFE, v.10 ELIFE 10 scie scopus 000687203200001 2-s2.0-85114118139 Biology Life Sciences & Biomedicine - Other Topics Article N-ALPHA-ACETYLTRANSFERASE CARDIAC NEURAL CREST CERVICAL-VERTEBRAE PROTEIN PAX3 MOUSE GENE IDENTIFICATION MUTANT ARD1