Project description:To find the possible molecular mechanism of myopia protection by violet light, we performed expression microarray analysis of chick chorioretinal tissue. The mRNA were obtained at day 13 from the following four groups: control eyes with or without violet light exposure and covered eyes with or without violet light exposure, and then the gene expression pattern was compared among them. Principle component analysis, which is to find major patterns of variability in gene expression, was performed and we found that the largest gene population (PC1, positive: n = 138, negative: n = 292) was affected by violet light treatment. On the other hand, the second largest gene population (PC2, positive: n = 120, negative: n = 23) was affected in the eyes covered with a plastic lens. The previously reported myopia-related genes such as Bmp2, Ednrb, Fgf2, Igf1, Il18, Irbp, Lumican, Sfrp1, Tgfb1, Vegfa, Vip, and Wnt2b were not found in the PC1 group in vivo, which indicates that they responded less to violet light. In the PC1 group, only one myopia protective gene, EGR1 (ZENK, zif268), was found among the previously reported myopia related genes.
Project description:A distinctive feature of the histopathology of desmoplastic infantile astrocytomas and gangliogliomas (DIA/DIGs) is a combination of low-grade and high-grade areas. In this study, we test the hypothesis that low-grade and high-grade areas in DIA/DIGs have distinct molecular characteristics. Tissue samples from microdissected low-grade and high-grade areas in 12 DIA/DIGs were analyzed by DNA methylome profiling, whole exome sequencing, RNA sequencing, and immunohistochemistry. Copy number variants among the tumours and between the two morphologically distinct areas were infrequent. No recurrent genetic alterations were identified across the tumor series, and high-grade areas did not have additional genetic alterations to explain their distinct morphology or biological behaviour. However, high-grade areas showed relative hypomethylation in genes downstream of the transcription factors SOX9 and LEF1 and evidence of a core SOX9 transcription network alongside activation of the BMP, WNT, and MAPK signalling pathways. This study contributes to our knowledge of molecular genetic alterations in DIA/DIGs, uncovers molecular differences between the two distinct cell populations in these tumours, and suggests potential therapeutic targets among the more proliferative cell population in DIA/DIGs.