Trachinops noarlungae
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ABSTRACT:
PROVIDER: PRJNA1121362 | ENA |
REPOSITORIES: ENA
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Project description:Trachinops noarlungae (Yellowhead Hulafish) genome, xxxx, haplotype 1
| PRJNA1121361 | ENA
Project description:Trachinops noarlungae (Yellowhead Hulafish), xxxx, sequence data
| PRJNA1121363 | ENA
Project description:We investigated effects of the t haplotype in house mice, an autosomal male meiotic driver, on genome-wide gene expression patterns in males and females. We analysed gonads, liver and brain in adult sibling pairs differing in genotype, allowing us to identify t-associated differences in gene regulation. In testis, only 40% of differentially expressed genes mapped to the approximately 708 annotated genes comprising the t haplotype. Thus much of the activity of the t haplotype occurs in trans, and as up-regulation. Sperm maturation functions were enriched among both cis and trans acting t haplotype genes. Within the t haplotype, more down-regulation and differential exon usage was observed. In ovaries, liver, and brain, the majority of expression differences mapped to the t haplotype, and were largely independent of the differences seen in the testis. Overall, we found widespread transcriptional effects of this male meiotic driver in the house mouse genome.
2019-10-28 | GSE138839 | GEO
Project description:The 9p21.3 cardiovascular disease locus is the most influential common genetic risk factor for coronary artery disease, accounting for ~10-15% of disease among non-African populations. The ~60kb risk haplotype is human-specific and lacks coding genes, hindering efforts to decipher its function. Genetic studies implicate the 9p21.3 locus and other risk genes to effects in the vascular wall. Here, we use genome editing to delete the entire risk on non-risk haplotype from the genomes of human iPSCs and perform genomewide transcriptional profiling along the timecourse of their differentiation into vascular smooth muscle cells (VSMCs). These studies identify a network of ~3000 genes governed by the risk haplotype in VSMCs that predict deficits in cell division, adhesion and contraction, which we confirmufunctionally. Remarkably, deleting the risk haplotype reverts VSMCs to resemble the non-risk VSMCs, suggesting that the risk region drives a cell state transition. transcriptionally and functionally. . Deleting the risk haplotype reverts these cells to reverted to the non-risk of iPSCs we show that the non-risk haplotype has little effect on locus we produce iPSCs from risk and non-risk individuals, delete each haplotype using genome editing and generate vascular smooth muscle cells (VSMCs). We show that risk VSMCs exhibit aberrant adhesion and contraction, concomitant with dramatically altered global transcriptional changes that are enriched in previously identified cardiovascular disease genes and pathways. Unexpectedly, deleting the risk haplotype rescues VSMC transcriptional identity and function, while expressing the 9p21.3-associated long non-coding RNA ANRIL induces risk phenotypes in non-risk VSMCs. This studies shows that the risk haplotype dominantly predisposes VSMCs to adopt perturbed phenotypes associated with cardiovascular disease and establishes haplotype-edited iPSCs as powerful tools for functionally annotating human-specific variation in non-coding genomic regions.
2018-12-05 | GSE120099 | GEO
Project description:The purpose of this study was to compare the transcriptome of NIPBL patient derived iPSCs and patient-derived cardiomyocytes to healthy unaffected individuals Methods: iPSC transcriptome profiles of three CdLS patient iPSCs harboring mutations in the NIPBL gene and cardiomyocytes derived from patient-iPSCS were generated by deep sequencing, in triplicate, using Illumina XXXXXX. The sequence reads that passed quality filters were analyzed at the transcript isoform level with two methods: Burrows–Wheeler Aligner (BWA) followed by ANOVA (ANOVA) and TopHat followed by Cufflinks. Results: Using an optimized data analysis workflow, we mapped about 15 million sequence reads per sample to the human genome and identified XXXX transcripts in CdLS-iPSCs and XXXXXX transcripts in control-iPSCs with XXXX workflow. Conclusion: Our data is the represents the first human developmental model for studying CdLS through pluripotent stem cells and lineage commited subtypes (cardiomyocytes). This data highlights NIPBLs role in regulating transcriptional regulation and has significant consequences on DNA nucleosome involvement as it relates to global gene expression. This work provides preliminary evidence that NIPBL is required for normal epigenetic and DNA landscape establishment during embryonic cardiomyocyte generation.
2018-02-22 | GSE102873 | GEO