Approved Research

Genomics of poly(A) polymerases regulating human behaviour and physiology

Lay summary

Small changes in our DNA, often encompassing only single letter in the entire genome, are responsible for the variability of most human features. The catalogue of such genetic changes, physiological features and disease records for many individuals like UK Biobank allows researchers to link features and diseases to particular areas of our DNA, indicating new possible genes involved in feature and disease development. Vice-versa, such databases allow us to determine what aspects of the function and malfunction of our bodies is influenced by particular genes.

Basic physiological functions like thirst, appetite, sleep, or growth, as well as complex behaviours like social, sexual, and aggressive interactions, are regulated by neuropeptides - small molecules influencing activity of numerous brain regions and controlling hormonal balance. We have recently discovered a gene which regulates production of several neuropeptides.

By accessing UK Biobank we aim to unravel features of human physiology and pathology that may depend on the regulation of the production of neuropeptides by our target gene as well as other similar genes. The project will take 36 months with possibly numerous iterations of database querying and experimental validation of obtained results leading to hypothesis refinement and additional database queries. Our initial results indicate that this process might be crucial for the production of neuropeptides regulating urination and thirst, growth, or sleep. Therefore our research might shed a new light on numerous diseases like dwarfism, narcolepsy, polydypsia and polyuria.