Project description:Discovery of common Asian copy number variants using a novel integrated high-resolution array CGH and massively parallel DNA sequencing. We attempted to discover common Asian copy number variants (CNVs) from the DNA of 30 Asian women (10 Korean, 10 CHB (HapMap), 10 JPT (HapMap)) using a custom-designed 24M-oligonucleotide Agilent platform (1.1M X 24 slides). The reference sample for aCGH was NA10851 (HapMap CEPH). In addition to the 30 women, 3 more individuals were analyzed as controls (AK1 (Kim, J.I. et al., 2009 Nature), NA12878 and NA19240).
Project description:Purpose: sRNA-sequencing of mature and intermediate gonadal tissue in order to identify the differential expression of miRNAs during male to female (i.e. protandrous) sex transition Methods: Total RNA was extracted and sRNA was purified. cDNA libraries were constructed using a high definition adapter protocol (Xu et al. 2015). 50 bp sequencing was performed on Illumina's HiSeq 2500 at the Earlham Institute, Norwich, UK. Sequenced data was trimmed for adapters and filtered to remove very short and low complexity sequences. miRBase animal miRNA precursor sequences were mapped against the Asian seabass genome in order to generate a set of putative miRNA precursors. Putative precursor molecules with aligning mature miRBase miRNA(s) and forming a valid pre-miRNA hairpin structure were annotated as valid precursor miRNAs. Novel precursor and mature miRNAs were annotated using a combination of published algorithms and manual checking to ensure consistency with canonical miRNA biogenesis criteria. The alignment of sequenced reads against a non-redundant miRNA precursor set was used to determine raw read counts of mature miRNAs. Differential expression analysis was performed in order to identify differentially expressed mature miRNAs between conditions. Results: We detect 156, 71, 122, 151, 171 and 155 differentially expressed miRNA for the testis -> T1/T2, T1/T2 -> T3/T4, T3/T4 -> ovary, testis -> T3/T4, T1/T2 -> ovary and the testis->ovary comparisons respectively Conclusions: There is substantial differential expression of miRNAs at every stage of gonadal change in the Asian seabass during the sex transition process
Project description:<p><strong>BACKGROUND:</strong> Reptiles exhibit a wide variety of skin colors, which serve essential roles in survival and reproduction. However, the molecular basis of these conspicuous colors remains unresolved.</p><p><strong>RESULTS:</strong> We investigate color morph-enriched Asian vine snakes (<em>Ahaetulla prasina</em>), to explore the mechanism underpinning color variations. Transmission electron microscopy imaging and metabolomics analysis indicates that chromatophore morphology (mainly iridophores) is the main basis for differences in skin color. Additionally, we assemble a 1.77 Gb high-quality chromosome-anchored genome of the snake. Genome-wide association study and RNA sequencing reveal a conservative amino acid substitution (p.P20S) in <em>SMARCE1</em>, which may be involved in the regulation of chromatophore development initiated from neural crest cells. <em>SMARCE1</em> knockdown in zebrafish and immunofluorescence verify the interactions among <em>SMARCE1</em>, iridophores, and <em>tfec</em>, which may determine color variations in the Asian vine snake.</p><p><strong>CONCLUSIONS:</strong> This study reveals the genetic associations of color variation in Asian vine snakes, providing insights and important resources for a deeper understanding of the molecular and genetic mechanisms related to reptilian coloration.</p>
Project description:Single-cell RNA-seq (scRNA-seq) of pancreatic islets have reported on α- and β-cell gene expression in mice and subjects of predominantly European ancestry. We aimed to assess these findings in East-Asian islet-cells. 448 islet-cells were captured from three East-Asian non-diabetic subjects for scRNA-seq. Hierarchical clustering using pancreatic cell lineage genes was used to assign cells into cell-types. Differentially expressed transcripts between α- and β-cells were detected using ANOVA and in silico replications of mouse and human islet cell genes were performed. We identified 118 α, 105 β, 6 δ endocrine cells and 47 exocrine cells. Besides INS and GCG, 26 genes showed differential expression between α- and β-cells. 10 genes showed concordant expression as reported in rodents, while FAM46A was significantly discordant. Comparing our East-Asian data with data from primarily European subjects, we replicated several genes implicated in nuclear receptor activations, acute phase response pathway, glutaryl-CoA/tryptophan degradations and EIF2/AMPK/mTOR signaling. Additionally, we identified protein ubiquitination to be associated among East-Asian β-cells. We report on East-Asian α- and β-cell gene signatures and substantiate several genes/pathways. We identify expression signatures in East-Asian β-cells that perhaps reflects increased susceptibility to cell-death and warrants future validations to fully appreciate their role in East-Asian diabetes pathogenesis.
Project description:We report the transcriptomic profiles of 59 Asian medulloblastoma and 4 normal tissues (para-tumor) including WNT, SHH, Group 3 and Group 4 medublastoma patients.