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Integrated Somatic and Germline Molecular Properties Dictating Biological and Clinical Phenotypes in Cancer

ABSTRACT: Integrated Somatic and Germline Molecular Properties Dictating Biological and Clinical Phenotypes in Cancer

PROVIDER: PRJNA1024634 | ENA |

REPOSITORIES: ENA

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Integrated Somatic and Germline Molecular Properties Dictating Biological and Clinical Phenotypes in Cancer

Project description:Integrated Somatic and Germline Molecular Properties Dictating Biological and Clinical Phenotypes in Cancer

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The germline regulates longevity and somatic repair in a sex-specific manner (RNA-Seq)

Project description:Classical evolutionary theories propose tradeoffs between reproduction, damage repair, and lifespan. However, the specific role of the germline in shaping vertebrate aging remains largely unknown. Here, we use the turquoise killifish (N. furzeri) to genetically arrest germline differentiation at discrete stages, and examine how different ‘flavors’ of infertility impact life-history. We first constructed a comprehensive single-cell gonadal atlas, providing cell-type-specific markers for downstream phenotypic analysis. Next, investigating our genetic models revealed that only germline ablation enhanced female damage repair, while arresting germline differentiation did not. Conversely, germline-ablated males were significantly long-lived, indicating that the mere presence of the germline can negatively affect lifespan. Transcriptomic analysis highlighted enrichment of pro-longevity pathways and genes, with functional conservation in germline-ablated C. elegans. Finally, germline depletion extended male healthspan through rejuvenated metabolic functions. Our results suggest that different germline manipulation paradigms can yield pronounced sexually dimorphic phenotypes, implying alternative mechanisms to classical evolutionary tradeoffs.

2024-03-06 | GSE248739 | GEO

Two pathogenic germline truncating variants of BRCA2 confer different haploinsufficiency phenotypes

Project description:Two pathogenic germline truncating variants of BRCA2 confer different haploinsufficiency phenotypes

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C. elegans germ granules regulate both germline and somatic RNAome [RNA-Seq]

Project description:Germ granules are membrane-less organelles essential for small RNA biogenesis and germline development. Among the conserved properties of germ granules is their association with the nuclear membrane. Recent studies demonstrated that LOTUS domain proteins, EGGD-1 and EGGD-2 (also known as MIP-1 and MIP-2 respectively), promote the formation of perinuclear germ granules in C. elegans. This finding presents a unique opportunity to evaluate the significance of perinuclear localization of germ granules. Here we show that loss of eggd-1 causes the coalescence of germ granules and formation of abnormal cytoplasmic aggregates. Impairment of perinuclear granules affects certain germline classes of small RNAs including Piwi-interacting RNAs. Transcriptome profiling reveals overexpression of spermatogenic and cuticle-related genes in eggd-1 hermaphrodites. We further demonstrate that disruption of germ granules activates HLH-30-mediated transcriptional program in somatic tissues. Collectively, our findings underscore the essential role of EGGD-1 in germ granule organization and reveal an unexpected germ granule-to-soma communication.

2023-07-20 | GSE228858 | GEO

C. elegans germ granules regulate both germline and somatic RNAome [miRNA-Seq]

2023-07-20 | GSE228857 | GEO

Germline and somatic mutations in <i>STXBP1</i> with diverse neurodevelopmental phenotypes.

Project description:ObjectiveTo expand the clinical phenotype associated with STXBP1 gene mutations and to understand the effect of STXBP1 mutations in the pathogenesis of focal cortical dysplasia (FCD).MethodsPatients with STXBP1 mutations were identified in various ways: as part of a retrospective cohort study of epileptic encephalopathy; through clinical referrals of individuals (10,619) with developmental delay (DD) for chromosomal microarray; and from a collection of 5,205 individuals with autism spectrum disorder (ASD) examined by whole-genome sequencing.ResultsSeven patients with heterozygous de novo mutations affecting the coding region of STXBP1 were newly identified. Three cases had radiologic evidence suggestive of FCD. One male patient with early infantile epileptic encephalopathy, DD, and ASD achieved complete seizure remission following resection of dysplastic brain tissue. Examination of excised brain tissue identified mosaicism for STXBP1, providing evidence for a somatic mechanism. Cell-type expression analysis suggested neuron-specific expression. A comprehensive analysis of the published data revealed that 3.1% of severe epilepsy cases carry a pathogenic de novo mutation within STXBP1. By contrast, ASD was rarely associated with mutations in this gene in our large cohorts.ConclusionsSTXBP1 mutations are an important cause of epilepsy and are also rarely associated with ASD. In a case with histologically proven FCD, an STXBP1 somatic mutation was identified, suggesting a role in its etiology. Removing such tissue may be curative for STXBP1-related epilepsy.

| S-EPMC5735305 | biostudies-literature

Somatic piRNA pathway prevents transgenerational germline transposition

Project description:Somatic piRNA pathway prevents transgenerational germline transposition

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Transcriptional programs dictating Schwann cell transformation in MPNST

Project description:Transcriptional programs dictating Schwann cell transformation in MPNST

| PRJNA742007 | ENA

Distinctive regulatory architectures of ubiquitous, germline and somatic genes

Project description:Chromatin accessibility in Germline, Neurons, Muscle, Hypodermis and Intestine nuclei from young adult worms.

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Distinctive regulatory architectures of ubiquitous, germline and somatic genes

Project description:Nuclear long RNA-seq was used to profile gene expression in Germline, Neurons, Muscle, Hypodermis and Intestine nuclei from young adult worms.

2020-03-15 | GSE141212 | GEO

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