Opening book details…
Can I read A role for BCL2L13 and autophagy in germline purifying selection of mtDNA on EtoBox?
A role for BCL2L13 and autophagy in germline purifying selection of mtDNA by Laura S. Kremer; Lyuba V. Bozhilova; Diana Rubalcava-Gracia; Roberta Filograna; Mamta Upadhyay; Camilla Koolmeister; Patrick F. Chinnery; Nils-Göran Larsson is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is A role for BCL2L13 and autophagy in germline purifying selection of mtDNA about?
Mammalian mitochondrial DNA (mtDNA) is inherited uniparentally through the female germline without undergoing recombination. This poses a major problem as deleterious mtDNA mutations must be eliminated to avoid a mutational meltdown over generations. At least two mechanisms that can decrease the mutation load during maternal transmission are operational: a stochastic bottleneck for mtDNA transmission from mother to child, and a directed purifying selection against transmission of deleterious mtDNA mutations. However, the molecular mechanisms controlling these processes remain unknown. In this study, we systematically tested whether decreased autophagy contributes to purifying selection by crossing the C5024T mouse model harbouring a single pathogenic heteroplasmic mutation in the tRNA^Ala^gene of the mtDNA with different autophagy-deficient mouse models, including knockouts of__Parkin__,__Bcl2l13__,__Ulk1__, and__Ulk2__. Our study reveals a statistically robust effect of knockout of__Bcl2l13__on the selection process, and weaker evidence for the effect of__Ulk1__and potentially__Ulk2__, while no statistically significant impact is seen for knockout of__Parkin__. This points at dist
Who reads A role for BCL2L13 and autophagy in germline purifying selection of mtDNA?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Laura S. Kremer; Lyuba V. Bozhilova; Diana Rubalcava-Gracia; Roberta Filograna; Mamta Upadhyay; Camilla Koolmeister; Patrick F. Chinnery; Nils-Göran Larsson
- Publisher
- Public Library of Science (PLoS)
- Published
- 2023
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)