Ecological genetics of neurobehavioral traits: from biodiversity conservation strategies to disease pathogenesis

The reaction of complex organisms to environmental change is mediated by a variety of mechanisms, including neurobehavioral responses and metabolic regulation. These mechanisms are ultimately shaped by genetic factors. Ecological genetics seeks to define the genetic basis of organismal interactions with the environment, which is only partially understood. The main objective of this thesis is to identify, through bioinformatics analyses, genotype-phenotype associations, evolutionary studies, and biological experiments, novel elements underlying the genetic regulation of neurobehavioral and metabolic traits involved in the interaction of human and non-human organisms with their environment and in their pathophysiological response to environmental change. Ultimately, the results of this work have direct implications for our understanding of gene-related physiological processes and disease pathogenesis, as well as molecular and phenotypic evolution. Furthermore, in the field of ecology, they may inform genetics-based species conservation efforts. Part of these results have been published in the following scientific peer-reviewed articles: 1. Vaglietti, S.*, Villeri, V.*, Dell’Oca, M.*, Marchetti, C., Cesano, F., Rizzo, F., ... & Fiumara, F. (2023). PolyQ length-based molecular encoding of vocalization frequency in FOXP2. iScience, 26(10). 2. Vaglietti, S., Boggio Bozzo, S., Ghirardi, M., & Fiumara, F. (2025). Divergent evolution of low-complexity regions in the vertebrate CPEB protein family. Frontiers in Bioinformatics, 5, 1491735. 3. Dell’Oca, M., Boggio Bozzo, S., Vaglietti, S., Marchetti, C., Di Luca, C., Munarin, P., ... & Fiumara, F. (2026). NEDAMSS syndrome-related truncating and missense mutations are associated with aberrant liquid-liquid phase separation of IRF2BPL. Nature Communications 17:3301. 4. Boggio Bozzo, S., Dell’Oca, M., Vaglietti, S., Gurgone, A., Cardinale, V., Ragazzini, G., ... & Fiumara, F. (2026). The CDKL5 kinase undergoes liquid–liquid phase separation driven by a serine-rich C-terminal region. Life Science Alliance, 9(5), e202503402.