PDE12 mediated pruning of the poly-A tail of mitochondrial DNA-encoded tRNAs is essential for survival
Mitochondrial DNA (mtDNA)-encoded RNA molecules undergo extensive processing to generate mature RNA, including removal of spurious poly-A tails by phosphodiesterase12 (PDE12). A new study by Van Haute and colleagues (Van Haute et al, 2024) describes the first pathogenic variants in the human PDE12 g...
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| Format: | Article |
| Language: | English |
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Springer Nature
2024-11-01
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| Series: | EMBO Molecular Medicine |
| Online Access: | https://doi.org/10.1038/s44321-024-00171-6 |
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| _version_ | 1832594512626581504 |
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| author | Chenxiao Yu Marco Tigano Erin L Seifert |
| author_facet | Chenxiao Yu Marco Tigano Erin L Seifert |
| author_sort | Chenxiao Yu |
| collection | DOAJ |
| description | Mitochondrial DNA (mtDNA)-encoded RNA molecules undergo extensive processing to generate mature RNA, including removal of spurious poly-A tails by phosphodiesterase12 (PDE12). A new study by Van Haute and colleagues (Van Haute et al, 2024) describes the first pathogenic variants in the human PDE12 gene. The 3 missense mutations that were identified each carry severe phenotypic consequences that correlate with the presence or not of residual PDE12 protein, show cell-type-specific adaptive responses, and specificity in the mtDNA-encoded electron transport chain subunits that are most affected. These new data demonstrate the necessity of PDE12 for life, and provide invaluable insights into RNA processing in mitochondria. |
| format | Article |
| id | doaj-art-d442ec1cdaff4626a3f5ec181cb3b60a |
| institution | Kabale University |
| issn | 1757-4684 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Springer Nature |
| record_format | Article |
| series | EMBO Molecular Medicine |
| spelling | doaj-art-d442ec1cdaff4626a3f5ec181cb3b60a2025-01-19T12:34:34ZengSpringer NatureEMBO Molecular Medicine1757-46842024-11-011713510.1038/s44321-024-00171-6PDE12 mediated pruning of the poly-A tail of mitochondrial DNA-encoded tRNAs is essential for survivalChenxiao Yu0Marco Tigano1Erin L Seifert2MitoCare Center, Department of Pathology and Genomic Medicine, Thomas Jefferson UniversityMitoCare Center, Department of Pathology and Genomic Medicine, Thomas Jefferson UniversityMitoCare Center, Department of Pathology and Genomic Medicine, Thomas Jefferson UniversityMitochondrial DNA (mtDNA)-encoded RNA molecules undergo extensive processing to generate mature RNA, including removal of spurious poly-A tails by phosphodiesterase12 (PDE12). A new study by Van Haute and colleagues (Van Haute et al, 2024) describes the first pathogenic variants in the human PDE12 gene. The 3 missense mutations that were identified each carry severe phenotypic consequences that correlate with the presence or not of residual PDE12 protein, show cell-type-specific adaptive responses, and specificity in the mtDNA-encoded electron transport chain subunits that are most affected. These new data demonstrate the necessity of PDE12 for life, and provide invaluable insights into RNA processing in mitochondria.https://doi.org/10.1038/s44321-024-00171-6 |
| spellingShingle | Chenxiao Yu Marco Tigano Erin L Seifert PDE12 mediated pruning of the poly-A tail of mitochondrial DNA-encoded tRNAs is essential for survival EMBO Molecular Medicine |
| title | PDE12 mediated pruning of the poly-A tail of mitochondrial DNA-encoded tRNAs is essential for survival |
| title_full | PDE12 mediated pruning of the poly-A tail of mitochondrial DNA-encoded tRNAs is essential for survival |
| title_fullStr | PDE12 mediated pruning of the poly-A tail of mitochondrial DNA-encoded tRNAs is essential for survival |
| title_full_unstemmed | PDE12 mediated pruning of the poly-A tail of mitochondrial DNA-encoded tRNAs is essential for survival |
| title_short | PDE12 mediated pruning of the poly-A tail of mitochondrial DNA-encoded tRNAs is essential for survival |
| title_sort | pde12 mediated pruning of the poly a tail of mitochondrial dna encoded trnas is essential for survival |
| url | https://doi.org/10.1038/s44321-024-00171-6 |
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