Evaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice

Lyon, Gholson J, Longo, Joseph, Garcia, Andrew, Inusa, Fatima, Marchi, Elaine, Shi, Daniel, Dörfel, Max, Arnesen, Thomas, Aldabe, Rafael, Lyons, Scott, Nashat, Melissa A, Bolton, David (May 2024) Evaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice. PLoS ONE, 19 (5). e0301328. ISSN 1932-6203

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URL: https://www.ncbi.nlm.nih.gov/pubmed/38713657
DOI: 10.1371/journal.pone.0301328


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 lethality. Here we replicate these phenotypes with new genetic alleles in mice, but we demonstrate their modulation by genetic background and environmental effects. We cannot replicate a prior report of "maternal effect lethality" for heterozygous Naa10-/X female mice, but we do observe a small amount of embryonic lethality in the Naa10-/y male mice on the inbred genetic background in this different animal facility.

Item Type: Paper
Subjects: organism description > animal
organism description > animal behavior
organism description > animal > mammal
organism description > animal behavior > maternal
organism description > animal > mammal > rodent > mouse
organism description > animal > mammal > rodent
CSHL Authors:
Communities: CSHL labs > Lyons lab
SWORD Depositor: CSHL Elements
Depositing User: CSHL Elements
Date: 7 May 2024
Date Deposited: 10 May 2024 15:21
Last Modified: 10 May 2024 15:21
PMCID: PMC11075865
Related URLs:
URI: https://repository.cshl.edu/id/eprint/41545

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