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844 results for “germline”
Data from: miR-9a modulates maintenance and ageing of Drosophila germline stem cells by limiting N-cadherin expression
Ageing is characterized by a decline in stem cell functionality leading to dampened tissue regeneration. While the expression of microRNAs across multiple species is markedly altered with age, the mechanism by which they govern stem cell-sustained tissue regeneration is unknown. We report that in the Drosophila testis, the conserved miR-9a is expressed in germline stem cells and its levels are significantly elevated during ageing. Transcriptome and functional analyses show that miR-9a directly regulates the expression of the adhesion molecule N-cadherin (N-cad). miR-9a null mutants maintain a higher number of stem cells even in the aged tissue. Remarkably, this rise fails to improve tissue regeneration and results in reduced male fertility. Similarly, overexpression of N-cad also results in elevated stem cell number and decreased regeneration. We propose that miR-9a downregulates N-cad to enable adequate detachment of stem cells toward differentiation, thus providing the necessary directionality toward terminal differentiation and spermatogenesis.
Data from: A synonymous germline variant in a gene encoding a cell adhesion molecule is associated with cutaneous mast cell tumour development in Labrador and Golden Retrievers
Mast cell tumours are the most common type of skin cancer in dogs, representing a significant concern in canine health. The molecular pathogenesis is largely unknown, but breed-predisposition for mast cell tumour development suggests the involvement of inherited genetic risk factors in some breeds. In this study, we aimed to identify germline risk factors associated with the development of mast cell tumours in Labrador Retrievers, a breed with an elevated risk of mast cell tumour development. Using a methodological approach that combined a genome-wide association study, targeted next generation sequencing, and TaqMan genotyping, we identified a synonymous variant in the DSCAM gene on canine chromosome 31 that is associated with mast cell tumours in Labrador Retrievers. DSCAM encodes a cell-adhesion molecule. We showed that the variant has no effect on the DSCAM mRNA level but is associated with a significant reduction in the level of the DSCAM protein, suggesting that the variant affects the dynamics of DSCAM mRNA translation. Furthermore, we showed that the variant is also associated with mast cell tumours in Golden Retrievers, a breed that is closely related to Labrador Retrievers and that also has a predilection for mast cell tumour development. The variant is common in both Labradors and Golden Retrievers and consequently is likely to be a significant genetic contributor to the increased susceptibility of both breeds to develop mast cell tumours. The results presented here not only represent an important contribution to the understanding of mast cell tumour development in dogs, as they highlight the role of cell adhesion in mast cell tumour tumourigenesis, but they also emphasise the potential importance of the effects of synonymous variants in complex diseases such as cancer.
Data from: Hidden genetic variation in the germline genome of Tetrahymena thermophila
Genome architecture varies greatly among eukaryotes. This diversity may profoundly affect the origin and maintenance of genetic variation within a population. Ciliates are microbial eukaryotes with unusual genome features, such as separation of germline and somatic genomes within a single cell and amitotic division. These features have previously been proposed to increase the rate of molecular evolution in these species. Here, we assessed the fitness effects of genetic variation in the two genomes of natural isolates of the ciliate Tetrahymena thermophila. We find more extensive genetic variation in fitness in the transcriptionally-silent germline genome than in the expressed somatic genome. Surprisingly, this variation is not primarily deleterious, but has both beneficial and deleterious effects. We conclude that Tetrahymena genome architecture allows for the maintenance of genetic variation that would otherwise be eliminated by selection. We consider the effect of selection on the two genomes and the impacts of reproductive strategies and the mechanism of sex determination on the structure of this variation.
A Phase III Trial of Niraparib Versus Physician's Choice in HER2 Negative, Germline BRCA Mutation-positive Breast Cancer Patients
ClinicalTrials.gov study NCT01905592. IPD Sharing: NO. Countries: 14. Publications: 0.
CLARA: Somatic and Germline Mechanisms That Impact Renal Cancer Immunotherapy
ClinicalTrials.gov study NCT05215470. IPD Sharing: YES. Countries: 1. Publications: 0.
Prostate Cancer Screening in Men With Germline BRCA2 Mutations
ClinicalTrials.gov study NCT02154672. IPD Sharing: NO. Countries: 1. Publications: 0.
Germline Testing for Predisposition to Myeloid Malignancies
ClinicalTrials.gov study NCT07112287. IPD Sharing: YES. Countries: 1. Publications: 0.
Olaparib in Locally Advanced ER, PgR and HER2 Negative (Triple Negative) and in Locally Advanced Germline BRCA Mutation-positive Breast Cancer Patients
ClinicalTrials.gov study NCT02681562. IPD Sharing: Not stated. Countries: 0. Publications: 1.
Improving Germline Testing in At-Risk Patients With Prostate Cancer
ClinicalTrials.gov study NCT05470036. IPD Sharing: NO. Countries: 1. Publications: 0.
Niraparib and Dostarlimab for the Treatment of Germline or Somatic BRCA1/2 and PALB2 Mutated Metastatic Pancreatic Cancer
ClinicalTrials.gov study NCT04493060. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Data from: miR-9a modulates maintenance and ageing of Drosophila germline stem cells by limiting N-cadherin expression
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Data from: Assessing the effects of a sequestered germline on interdomain lateral gene transfer in Metazoa
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Data from: Temperature effects on life-history trade-offs, germline maintenance and mutation rate under simulated climate warming
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Data from: Hidden genetic variation in the germline genome of Tetrahymena thermophila
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Data from: A synonymous germline variant in a gene encoding a cell adhesion molecule is associated with cutaneous mast cell tumour development in Labrador and Golden Retrievers
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Data from: Germline DNA methylation in reef corals: patterns and potential roles in response to environmental change
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Data from: 'Escaping' the X chromosome leads to increased gene expression in the male germline of Drosophila melanogaster
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Effect of ICSI on gene expression in germline stem cells
GEO Series GSE214649. Mus musculus. 8 samples. Type: Expression profiling by high throughput sequencing.
Epigenetic requirements for triggering heterochromatinization and Piwi-interacting RNA production from transgenes in the Drosophila germline
GEO Series GSE138886. Drosophila melanogaster. 20 samples. Type: Expression profiling by high throughput sequencing; Non-coding RNA profiling by high throughput sequencing; Other.
Tdrkh is essential for spermatogenesis and participates in primary piRNA biogenesis in the germline
GEO Series GSE47151. Mus musculus. 2 samples. Type: Non-coding RNA profiling by high throughput sequencing.
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.