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Phenotype of Mrps5-associated polymorphisms is intimately linked to mitoribosomal misreading

ABSTRACT: Phenotype of Mrps5-associated polymorphisms is intimately linked to mitoribosomal misreading

PROVIDER: PRJNA802128 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR17843547.fastq.gz	Fastqsanger.gz
	SRR17843548.fastq.gz	Fastqsanger.gz
	SRR17843549.fastq.gz	Fastqsanger.gz
	SRR17843550.fastq.gz	Fastqsanger.gz
	SRR17843551.fastq.gz	Fastqsanger.gz

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Phenotype of Mrps5-associated polymorphisms is intimately linked to mitoribosomal misreading

Project description:Recently, we have identified a point mutation V338Y in mammalian nuclear-encoded mitochondrial protein MrpS5 that confers error-prone mitochondrial protein synthesis. In-vivo, mutation V338Y was associated with a distinct phenotype including impaired mitochondrial function, enhanced susceptibility to noise-induced hearing damage, anxiety-related behavioral alterations, and age-associated metabolic changes in muscle. To challenge the link between V338Y-mediated misreading and in-vivo phenotype, we introduced mutation G315R into the MRPS5 gene; MRPS5 G315R is homologous to the established bacterial ram mutation uS5 G104R. In contrast to the phylogenetically closely related bacterial translation, the corresponding MRPS5 G315R mutation did not affect the accuracy of mitochondrial protein synthesis. In addition, in the absence of mitochondrial misreading, homozygous mutant MRPS5G315R/G315R mice did not show phenotype distinct from wild-type animals.

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Phenotype of Mrps5-Associated Phylogenetic Polymorphisms Is Intimately Linked to Mitoribosomal Misreading.

Project description:We have recently identified point mutation V336Y in mitoribosomal protein Mrps5 (uS5m) as a mitoribosomal ram (ribosomal ambiguity) mutation conferring error-prone mitochondrial protein synthesis. In vivo in transgenic knock-in animals, homologous mutation V338Y was associated with a discrete phenotype including impaired mitochondrial function, anxiety-related behavioral alterations, enhanced susceptibility to noise-induced hearing damage, and accelerated metabolic aging in muscle. To challenge the postulated link between Mrps5 V338Y-mediated misreading and the in vivo phenotype, we introduced mutation G315R into the mouse Mrps5 gene as Mrps5 G315R is homologous to the established bacterial ram mutation RpsE (uS5) G104R. However, in contrast to bacterial translation, the homologous G → R mutation in mitoribosomal Mrps5 did not affect the accuracy of mitochondrial protein synthesis. Importantly, in the absence of mitochondrial misreading, homozygous mutant MrpS5G315R/G315R mice did not show a phenotype distinct from wild-type animals.

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Effect of Mrps5 on gene expression in Mrps5 null heart at embryonic 12 days after Mrps5 knockout

Project description:To gain insight into the function of Mrps5 in cardiac development We conducted RNA sequencing to profile the transcriptomes of Mrps5 fl/fl and Mrps5 fl/fl; cTNT-Cre mouse hearts at embryonic 12 days, prior to the onset of embryos lethality.

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Effect of Klf15 on gene expression in Mrps5 null heart at 14 weeks after Mrps5 gene knockout

Project description:To understand the molecular mechanisms by which Klf15 overexpression rescues the Mrps5 loss of function phenotype in the heart. We conducted RNA sequencing to profile the transcriptomes of Mrps5cKO mice infected with AAV9-Klf15 or control AAV9-Luci.

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Effect of Mrps5 on gene expression in Mrps5 null heart at embryonic 12 days after Mrps5 knockout

Project description:Effect of Mrps5 on gene expression in Mrps5 null heart at embryonic 12 days after Mrps5 knockout

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Effect of cardiac specific depletion of one allele of Mrps5 on gene expression in heart at postnatal day 4

Project description:To investigate the function of reduction in Mrps5 expression in the regulation of cardiomyocyte proliferation and postnatal heart development, we established the mouse with cardiac specific depletion of one allele of Mrps5 through Cre-Loxp system by crossing Mrps5 fl/fl mouse with Myh6-Cre mouse. We cross Mrps5 fl/fl mouse with Myh6-Cre mouse to obtain the Mrps5 fl/+;Myh6-Cre mouse and its control littermates Mrps5 fl/+ mouse. So that one allele of Mrps5 gene was depleted upon Myh6 gene promoter drivened Cre expression at the later stage of embyronic stage. We then performed gene expression profiling analysis using data obtained from RNA-seq of Mrps5 fl/+; Myh6-Cre and Mrps5 fl/+ mouse hearts at postnatal day 4.

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