mProX™ Human PRKCH Stable Cell Line

D Alberca, Carolina. et al. "Hippocampal and peripheral blood DNA methylation signatures correlate at the gene and pathway level in a mouse model of autism." Human molecular genetics, 2023.
Autism spectrum disorders (ASD) are complex disorders caused by a combination of genetic and environmental factors. Recent studies have identified differential DNA methylation in peripheral tissues, such as the placenta, paternal sperm, buccal epithelium, and blood. However, there is a lack of comparison between DNA methylation levels in these peripheral tissues and brain tissue from the same individual. To address this, a study was conducted comparing whole genome methylation profiles in both brain and blood tissues from mice. This revealed 66 differentially methylated regions (DMRs) shared between the two tissues, many of which are associated with genes linked to neurodevelopmental disorders and intellectual disabilities. Analysis of gene ontological pathways showed that a significant number of terms were common between brain and blood tissues, with a large proportion related to brain/neuronal development. Additionally, seven DMR-associated genes contained methyl-sensitive transcription factor sequence motifs within the DMRs of both tissues, further supporting the role of DNA methylation in regulating gene expression in ASD. These findings suggest that peripheral blood may serve as a surrogate tissue for studying brain-related disorders and further support the contribution of DNA methylation in the development of ASD.
D Alberca, Carolina. et al. "Hippocampal and peripheral blood DNA methylation signatures correlate at the gene and pathway level in a mouse model of autism." Human molecular genetics, 2023.
Pubmed: 37658766   DOI: 10.1093/hmg/ddad137

Shemirani, R. et al. "Mutations Causing X-Linked Amelogenesis Imperfecta Alter miRNA Formation from Amelogenin Exon4." Journal of dental research, 2023.
Amelogenin plays a crucial role in tooth enamel formation, and mutations on X-chromosomal amelogenin cause X-linked amelogenesis imperfecta (AI). Amelogenin pre-messenger RNA (mRNA) is highly alternatively spliced, and during alternative splicing, exon4 is mostly skipped, resulting in the formation of a microRNA (miR-exon4) that is thought to play a role in enamel and bone formation. In an effort to better understand the regulation of amelogenin splicing, a study was conducted to examine the effects of known mutations in exon4 and exon5 on miR-exon4 production. Results showed that specific mutations, including c.120T>C, c.152C>T, c.155C>G, and c.155delC, significantly influenced the splicing of exon4 and subsequent miR-exon4 formation. In addition, the study identified the potential involvement of Ser/Arg-rich RNA splicing factors (SRSFs) 2 and 5 in regulating the splicing of exon4 and exon5, respectively. Further experiments with an amelogenin minigene transfected into HEK-293 cells demonstrated that mutations in each exon affected the binding of the corresponding SRSF. In LS8 ameloblastic cells, transfection of the amelogenin minigene led to a decrease in the expression of known miR-exon4 targets, miR-5p. Overall, these findings shed light on the important role of alternative splicing and its regulatory factors in producing functional variants of amelogenin proteins.
Shemirani, R. et al. "Mutations Causing X-Linked Amelogenesis Imperfecta Alter miRNA Formation from Amelogenin Exon4." Journal of dental research, 2023.
Pubmed: 37563801   DOI: 10.1177/00220345231180572