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Evaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice
Gholson J Lyon1,2, Joseph Longo1, Andrew Garcia1,2
1Human Genetics Department, New York State Institute for Basic Research (IBR) in Developmental Disabilities, Staten Island, New York, USA.
Biorxiv : the Preprint Server for Biology
|May 10, 2023
Summary
Amino-terminal acetylation (NTA) is crucial for human proteins. Mouse studies reveal that genetic background and environment significantly influence N-terminal acetyltransferase A (NatA) complex gene NAA10
Area of Science:
- Biochemistry and Molecular Biology: Focuses on protein modifications and enzyme complexes.
Background:
- Amino-terminal acetylation (NTA) modifies ~80% of human proteins.
- The NAA10 gene encodes the catalytic subunit of the N-terminal acetyltransferase A (NatA) complex.
- Genetic variations in NAA10 are linked to human health.
Approach:
- Investigated the function of the NAA10 gene in mice, considering its paralog NAA12.
- Generated new genetic alleles in mice to study NAA10 function and associated phenotypes.
- Analyzed the impact of genetic background and environmental factors on NAA10-related traits.
Key Points:
- Mouse models lacking NAA10 exhibit phenotypes like skeletal defects and hydrocephaly, partially rescued by NAA12.
- Double knockouts of NAA10 and NAA12 are embryonically lethal.
- Phenotypic variability in NAA10-related mouse models is influenced by genetic background and environmental effects.
- Prior reports of maternal effect lethality in heterozygous NAA10 mice were not replicated; however, some embryonic lethality in males was observed.
Conclusions:
- NAA10 plays a significant role in mammalian development, with its effects modulated by genetic and environmental factors.
- Mouse models provide valuable insights into the complex genetic basis of NAA10 function and associated developmental abnormalities.
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