Spontaneous mutation in 2310061I04Rik results in reduced expression of mitochondrial genes and impaired brain myelination.
Here, we describe a spontaneous mouse mutant with a deletion in a predicted gene 2310061I04Rik (Rik) of unknown function located on chromosome 17. A 59 base pair long deletion occurred in the first intron of the Rik gene and disrupted its expression. Riknull mice were born healthy and appeared anato...
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2024-01-01
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| Series: | PLoS ONE |
| Online Access: | https://doi.org/10.1371/journal.pone.0290487 |
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| author | Erdyni N Tsitsikov Khanh P Phan Yufeng Liu Alla V Tsytsykova Rosalia Paterno David M Sherry Anthony C Johnson Ian F Dunn |
| author_facet | Erdyni N Tsitsikov Khanh P Phan Yufeng Liu Alla V Tsytsykova Rosalia Paterno David M Sherry Anthony C Johnson Ian F Dunn |
| author_sort | Erdyni N Tsitsikov |
| collection | DOAJ |
| description | Here, we describe a spontaneous mouse mutant with a deletion in a predicted gene 2310061I04Rik (Rik) of unknown function located on chromosome 17. A 59 base pair long deletion occurred in the first intron of the Rik gene and disrupted its expression. Riknull mice were born healthy and appeared anatomically normal up to two weeks of age. After that, these mice showed inhibited growth, ataxic gait, and died shortly after postnatal day 24 (P24). Transcriptome analysis at P14 and P23 revealed significantly reduced expression of mitochondrial genes in Riknull brains compared to wild type controls including mt-Nd4, mt-Cytb, mt-Nd2, mt-Co1, mt-Atp6, and others. Similarly, genes specific for myelinating oligodendrocytes also showed reduced expression in P23 Riknull brains compared to controls. Histological examination of anterior thalamic nuclei demonstrated decreased myelination of anteroventral nuclei but not of anterodorsal nuclei in P23 Riknull mice. Myelination of the anterior commissure was also impaired and displayed extensive vacuolation. Consistently with these findings, immunohistochemistry showed reduced expression of Opalin, a glycoprotein expressed in differentiated oligodendrocytes. Taken together, these results suggest that RIK is important for oligodendrocyte maturation and myelination in the developing brain. |
| format | Article |
| id | doaj-art-1877d9130b76445ebfc9cb37a8e35338 |
| institution | OA Journals |
| issn | 1932-6203 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Public Library of Science (PLoS) |
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| spelling | doaj-art-1877d9130b76445ebfc9cb37a8e353382025-08-20T01:59:17ZengPublic Library of Science (PLoS)PLoS ONE1932-62032024-01-011912e029048710.1371/journal.pone.0290487Spontaneous mutation in 2310061I04Rik results in reduced expression of mitochondrial genes and impaired brain myelination.Erdyni N TsitsikovKhanh P PhanYufeng LiuAlla V TsytsykovaRosalia PaternoDavid M SherryAnthony C JohnsonIan F DunnHere, we describe a spontaneous mouse mutant with a deletion in a predicted gene 2310061I04Rik (Rik) of unknown function located on chromosome 17. A 59 base pair long deletion occurred in the first intron of the Rik gene and disrupted its expression. Riknull mice were born healthy and appeared anatomically normal up to two weeks of age. After that, these mice showed inhibited growth, ataxic gait, and died shortly after postnatal day 24 (P24). Transcriptome analysis at P14 and P23 revealed significantly reduced expression of mitochondrial genes in Riknull brains compared to wild type controls including mt-Nd4, mt-Cytb, mt-Nd2, mt-Co1, mt-Atp6, and others. Similarly, genes specific for myelinating oligodendrocytes also showed reduced expression in P23 Riknull brains compared to controls. Histological examination of anterior thalamic nuclei demonstrated decreased myelination of anteroventral nuclei but not of anterodorsal nuclei in P23 Riknull mice. Myelination of the anterior commissure was also impaired and displayed extensive vacuolation. Consistently with these findings, immunohistochemistry showed reduced expression of Opalin, a glycoprotein expressed in differentiated oligodendrocytes. Taken together, these results suggest that RIK is important for oligodendrocyte maturation and myelination in the developing brain.https://doi.org/10.1371/journal.pone.0290487 |
| spellingShingle | Erdyni N Tsitsikov Khanh P Phan Yufeng Liu Alla V Tsytsykova Rosalia Paterno David M Sherry Anthony C Johnson Ian F Dunn Spontaneous mutation in 2310061I04Rik results in reduced expression of mitochondrial genes and impaired brain myelination. PLoS ONE |
| title | Spontaneous mutation in 2310061I04Rik results in reduced expression of mitochondrial genes and impaired brain myelination. |
| title_full | Spontaneous mutation in 2310061I04Rik results in reduced expression of mitochondrial genes and impaired brain myelination. |
| title_fullStr | Spontaneous mutation in 2310061I04Rik results in reduced expression of mitochondrial genes and impaired brain myelination. |
| title_full_unstemmed | Spontaneous mutation in 2310061I04Rik results in reduced expression of mitochondrial genes and impaired brain myelination. |
| title_short | Spontaneous mutation in 2310061I04Rik results in reduced expression of mitochondrial genes and impaired brain myelination. |
| title_sort | spontaneous mutation in 2310061i04rik results in reduced expression of mitochondrial genes and impaired brain myelination |
| url | https://doi.org/10.1371/journal.pone.0290487 |
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