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The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance

ABSTRACT: The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance

PROVIDER: PRJNA743524 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR15035046.fastq.gz	Fastqsanger.gz
	SRR15035047.fastq.gz	Fastqsanger.gz
	SRR15035048.fastq.gz	Fastqsanger.gz
	SRR15035049.fastq.gz	Fastqsanger.gz
	SRR15035050.fastq.gz	Fastqsanger.gz

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The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance

Project description:FTSJ1 is a conserved human 2’-O-methyltransferase (Nm-MTase) that modifies several transfer RNAs (tRNAs) at position 32 and the wobble position 34 in the AntiCodon Loop (ACL). Its loss of function has been linked to Non-Syndromic X-Linked Intellectual Disability (NSXLID), and more recently to cancers. However, the molecular mechanisms underlying these pathologies are currently unclear. Here we report a novel FTSJ1 pathogenic variant from a NSXLID patient. Using blood cells derived from this patient and other affected individuals carrying FTSJ1 mutations, we performed an unbiased and comprehensive RiboMethSeq analysis to map the ribose methylation (Nm) on all tRNAs and identify novel targets. In addition, we performed a transcriptome analysis in these cells and found that several genes previously associated with intellectual disability and cancers were deregulated. We also found changes in the miRNA population that suggest potential cross-regulation of some miRNAs with these key mRNA targets. Finally, we show that differentiation of FTSJ1-depleted human neuronal progenitor cells (NPC) into neurons displays long and thin spine neurites compared to control cells. These defects are also observed in Drosophila and are associated with long term memory deficit in this organism. Altogether, our study adds insight into FTSJ1 pathologies in human by the identification of novel FTSJ1 targets and the defect in neuron morphology.

2023-01-06 | GSE179384 | GEO

The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance.

Project description:FTSJ1 is a conserved human 2'-O-methyltransferase (Nm-MTase) that modifies several tRNAs at position 32 and the wobble position 34 in the anticodon loop. Its loss of function has been linked to X-linked intellectual disability (XLID), and more recently to cancers. However, the molecular mechanisms underlying these pathologies are currently unclear. Here, we report a novel FTSJ1 pathogenic variant from an X-linked intellectual disability patient. Using blood cells derived from this patient and other affected individuals carrying FTSJ1 mutations, we performed an unbiased and comprehensive RiboMethSeq analysis to map the ribose methylation on all human tRNAs and identify novel targets. In addition, we performed a transcriptome analysis in these cells and found that several genes previously associated with intellectual disability and cancers were deregulated. We also found changes in the miRNA population that suggest potential cross-regulation of some miRNAs with these key mRNA targets. Finally, we show that differentiation of FTSJ1-depleted human neural progenitor cells into neurons displays long and thin spine neurites compared with control cells. These defects are also observed in Drosophila and are associated with long-term memory deficits. Altogether, our study adds insight into FTSJ1 pathologies in humans and flies by the identification of novel FTSJ1 targets and the defect in neuron morphology.

| S-EPMC9889914 | biostudies-literature

Next Generation Sequencing identifies differential genes regulated by FTSJ1 overexpression

Project description:We report the application of RNA-sequencing for high-throughput profiling of transcriptomes in PC9 cells transfected with stably expressed FTSJ1.

2020-05-19 | GSE146604 | GEO

P0.5 WT or Ftsj1 KO mouse brain or liver total mRNA or ribosome-contained mRNA

Project description:P0.5 WT or Ftsj1 KO mouse brain or liver ribosome-contained mRNAs or total mRNAs, and were sequenced using MiSeq and HiSeq.

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WT or Ftsj1 KO mouse brain

Project description:WT or Ftsj1 KO mouse brain

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Transcription profiling by array of Lactobacillus sakei strains grown on ribose or glucose to study ribose catabolism

Project description:We used a whole-genome microarray based on the sequenced strain Lactobacillus sakei 23K to study ribose catabolism in three Lactobacillus sakei strains by screening for differentially expressed genes when grown on ribose compared to glucose

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Ribose utilization by the human commensal Bifidobacterium breve UCC2003

Project description:Growth of B. breve UCC2003 on ribose leads to the transcriptional induction of the rbsACBDK gene cluster. Generation and phenotypic analysis of an rbsA insertion mutant established that the rbs gene cluster is essential for ribose utilization, and that its transcription is likely regulated by a LacI-type regulator encoded by rbsR, located immediately upstream of rbsA. Gel mobility shift assays using purified RbsRHis indicate that the promoter upstream of rbsABCDK is negatively controlled by RbsRHis binding to an 18-bp inverted repeat and that RbsRHis binding activity is modulated by D-ribose. The rbsK gene of the rbs operon of B. breve UCC2003 was shown to specify a ribokinase (EC 2.7.1.15), which specifically directs its phosphorylating activity towards D-ribose, converting this pentose sugar to ribose-5-phosphate. In order to investigate differences in global gene expression upon growth of B. breve UCC2003 on ribose, or a combination of ribose and glucose, as compared to glucose, DNA microarray experiments were performed. Total RNA was isolated from B. breve UCC2003 cultures grown on ribose, a combination of ribose and glucose, or glucose. All experiments were performed in duplicate. A dye swap was performed in one of the two biological replicates.

2010-05-19 | E-GEOD-17325 | biostudies-arrayexpress

The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology

Project description:The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology

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CLIP of mRNA capping enzyme CMTR2 in drosophila melanogaster

Project description:The mRNA cap structure consists of the m7G "cap0" linked to the 5'-most nucleotide of the initial mRNA. The first two nucleotides of mRNA can be 2'-O-Ribose modified to form cap1 or cap2 structures. Here, mRNA was sequenced after CLIP with tagged recombinant CMTR2 enzyme and compared to input RNA.

2021-12-18 | GSE138868 | GEO

FTSJ1 patients RNASeq

Project description:RNASeq: FTSJ1 tRNA Nm-MTase: new human targets and role in the regulation of brain-specific genes

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