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Untimely expression of gametogenic genes in vegetative cells causes uniparental disomy

ABSTRACT: Untimely expression of gametogenic genes in vegetative cells causes uniparental disomy

PROVIDER: PRJNA309326 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR3110840.fastq.gz	Fastqsanger.gz
	SRR3110837.fastq.gz	Fastqsanger.gz
	SRR3110838.fastq.gz	Fastqsanger.gz
	SRR3110839.fastq.gz	Fastqsanger.gz

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Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15

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Detection of uniparental disomy from genome sequencing of family trio

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Untimely expression of gametogenic genes in vegetative cells causes uniparental disomy.

Project description:Uniparental disomy (UPD), in which an individual contains a pair of homologous chromosomes originating from only one parent, is a frequent phenomenon that is linked to congenital disorders and various cancers. UPD is thought to result mostly from pre- or post-zygotic chromosome missegregation. However, the factors that drive UPD remain unknown. Here we use the fission yeast Schizosaccharomyces pombe as a model to investigate UPD, and show that defects in the RNA interference (RNAi) machinery or in the YTH domain-containing RNA elimination factor Mmi1 cause high levels of UPD in vegetative diploid cells. This phenomenon is not due to defects in heterochromatin assembly at centromeres. Notably, in cells lacking RNAi components or Mmi1, UPD is associated with the untimely expression of gametogenic genes. Deletion of the upregulated gene encoding the meiotic cohesin Rec8 or the cyclin Crs1 suppresses UPD in both RNAi and mmi1 mutants. Moreover, overexpression of Rec8 is sufficient to trigger UPD in wild-type cells. Rec8 expressed in vegetative cells localizes to chromosomal arms and to the centromere core, where it is required for localization of the cohesin subunit Psc3. The centromeric localization of Rec8 and Psc3 promotes UPD by uniquely affecting chromosome segregation, causing a reductional segregation of one homologue. Together, these findings establish the untimely vegetative expression of gametogenic genes as a causative factor of UPD, and provide a solid foundation for understanding this phenomenon, which is linked to diverse human diseases.

| S-EPMC5567995 | biostudies-literature

Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15

Project description:Methylation profiles of chr12-16 were generated by meDIP and array hybridisation in 3 cases with maternal uniparental disomy of chromosome 15, and three cases of paternal uniparental disomy of chromosome 15. Comparison of these profiles reveals differentially methylated (imprinted) regions on chromosome 15. Methylated DNA was enriched by immunoprecipitation using antibodies against 5-methylcytosine. meDIP and input DNA was labeled with cy5 and cy3 respectively and hybridized to Nimblegen arrays comprising 2.1 million 50-85mers covering human chromosomes 12-16 at a mean density of ~1 probe per 100bp. Resulting log2 fluorescence ratios correspond to methylation levels. Six samples were analyzed, with technical replicates for each DNA.

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Untimely expression of gametogenic genes in vegetative cells causes uniparental disomy

Project description:This SuperSeries is composed of the SubSeries listed below.

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Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes

Project description:Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes

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Untimely expression of gametogenic genes in vegetative cells causes uniparental disomy (ChIP-chip)

Project description:Occupancy profiling of lysine 9 dimethylated histone H3 in fission yeast. Occupancy profiling of Psc3, Rec8, Rad21 and Rec11 proteins in fission yeast.

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Untimely expression of gametogenic genes in vegetative cells causes uniparental disomy (RNA-seq)

Project description:We report gene expression profiling in the fission yeast Schizosaccharomyces pombe. We performed high-throughput sequencing of RNA isolated from wild-type, ago1d, mmi1d and dcr1d strains.

2017-02-25 | GSE77047 | GEO

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