Genetics ePosters

Brain serotonin (5-HT) is one of the key regulators of aggressive behavior and social defeat stress mechanisms. We had previously found that abolishing central 5-HT biosynthesis increases aggression, as tryptophan hydroxylase 2 (Tph2-/-) knockout rats (TPH2-KO) are more aggressive than wild-type (WT) counterparts. In…

SP4 gene is one of the two risk genes implicated in schizophrenia in recent large unpublished case-controlled genomic and exomic sequencing studies. Data on Spatio-temporal SP4 expression in the brain and it's biological functions are sparse in published literature. Bulk RNA sequencing and single-cell high-resolution…

TCF7L2 is a high-confidence risk gene for neurodevelopmental disorders (NDs), but its role in their pathogenesis is unknown. It is highly expressed in the thalamus - candidate structure for NDs pathogenesis - regulating its electrophysiological maturation. To understand the role of thalamus-expressed Tcf7l2 in signal…

Neurofibromatosis type 1 (NF1) is one of the most prevalent rare genetic diseases, confronting patients with numerous medical (neurological, cutaneous, osseous) and neuropsychological symptoms. To identify risk factors and allow for targeted neuropsychological intervention, potential associations between the…

WNT signaling is aberrantly activated in human tumors including gliomas. Promoter methylation and expression of WNT pathway’s negative regulators, DKK1 and DKK3, and positive, GSK3β, together with two signaling antagonists, SFRP1 and SFRP3, were investigated in human gliomas. Gliomas, paired blood and FFPE slides were…

More pilot studies are emerging with the goal of contributing to the bigger puzzle of personalized multiple sclerosis (MS) therapies. This study aimed to examine the potential benefit of using four non-coding RNAs (ncRNAs) (miR-141, miR-9, MEG3, and IFNG-AS1) as prognostic and/or diagnostic biomarkers for MS. We also…

Growth-factor receptor bound protein 10 (GRB10) is a signal adapter protein encoded by an imprinted gene, with roles in growth control, cellular proliferation, and insulin signalling. Grb10 has a unique, tissue-specific imprinted expression; the paternal copy being expressed in the CNS, whereas the maternal copy is…

Although oxytocin (Oxt) is expressed in a highly conserved neuroanatomical pattern among vertebrates, brain OXT receptor (Oxtr) distribution is highly variable across species and associated with species-typical social behavior. Genetic mechanisms leading to diversity in brain Oxtr expression, and a causal link between…

CYP2C19 is mainly, a liver enzyme that metabolizes psychotropic compounds, however, it is also expressed in the fetal brain. Transgenic knock-in mice carrying the human CYP2C19 gene show the same expression pattern of this enzyme as humans. This study aims to characterize the motor function and brain morphological…

Alzheimer’s disease (AD) is the most common and progressive type of brain disorder that affects parts of the brain responsible for memory, speaking, thinking, and many other important functions. Apart from its common risk factors such as aging, environment, and lifestyle elements, the risk of developing AD largely…

Which genes contribute to making the human brain capable of language? We analyzed resting state fMRI and genetic single nucleotide polymorphism data of 30,660 people in the UK biobank and found 15 regions in the human DNA that relate to the brain language network. We link two genomic regions on chromosome 3 (EPHA3 and…

During mammalian neural development, mitotic cells sense local cues and morphogenic gradients to form complex and coherent processing systems, such as the cerebral cortex, that contains billions of neurons classified into different cell types. We use agent-based simulations of cellular growth and differentiation to…