biostudies-literatureLyon GJResearch Council of NorwayDepartamento de Desarrollo Económico del Gobierno de NavarraMinisterio Español de Economía y Competitividad Torres Quevedo ProgramNIGMS NIH HHSNIGMSe0301328https://www.ebi.ac.uk/biostudies/studies/S-EPMC11075865biostudies-literatureUnknown19(5)Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting approximately 80% of all human proteins. The human essential X-linked gene, NAA10, encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A (NatA) complex. There is extensive genetic variation in humans with missense, splice-site, and C-terminal frameshift variants in NAA10. In mice, Naa10 is not an essential gene, as there exists a paralogous gene, Naa12, that substantially rescues Naa10 knockout mice from embryonic lethality, whereas double knockouts (Naa10-/Y Naa12-/-) are embryonic lethal. However, the phenotypic variability in the mice is nonetheless quite extensive, including piebaldism, skeletal defects, small size, hydrocephaly, hydronephrosis, and neonatal lPloS oneEvaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice.PMC11075865PTQ-13-06466R35-GM-1334080011-1383-2018-000011249843R35 GM133408Lyon GJNashat MAInusa FGarcia AMarchi EArnesen TLyons SShi DDorfel MAldabe RBolton DLongo JfalseEvaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice.Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting approximately 80% of all human proteins. The human essential X-linked gene, NAA10, encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A (NatA) complex. There is extensive genetic variation in humans with missense, splice-site, and C-terminal frameshift variants in NAA10. In mice, Naa10 is not an essential gene, as there exists a paralogous gene, Naa12, that substantially rescues Naa10 knockout mice from embryonic lethality, whereas double knockouts (Naa10-/Y Naa12-/-) are embryonic lethal. However, the phenotypic variability in the mice is nonetheless quite extensive, including piebaldism, skeletal defects, small size, hydrocephaly, hydronephrosis, and neonatal l2024-01-01T00:00:00Z20242026-06-01T17:26:56.065Z2026-04-08T14:14:33.438ZS-EPMC110758653871365710.1371/journal.pone.0301328