Genetics and Molecular Biology

The course is divided into two modules: Module I • Human evolution: current research directions and the evolutionary radiation of Primates. • Methods of study: analysis of biological variability in the fossil record; dating methods; definition of fossil species. • Human evolutionary traits: bipedalism and encephalization – costs and benefits. • Neanderthals, Denisovans and aDNA: comparison between species. • Climate and culture: climatic transitions (Pleistocene/Holocene) and cultural transitions (Paleolithic/Neolithic). • Human variability and biodiversity: overview of human phenotypic and genetic diversity; study of Homo sapiens dispersal and the peopling of the continents. Module II • Global dispersal and anthropology: study of uniparental (mtDNA, chrY) and autosomal markers. • Biological–cultural evolution: examples of gene–culture coevolution (e.g., lactase persistence). • Environmental adaptation and genes: analysis of highly variable genes in specific populations (e.g., EGLN1/EPAS1for altitude adaptation, skin pigmentation genes). • Epigenetics, plasticity and human biodiversity: methods for studying the epigenome (e.g., DNA methylation, ChIP-seq); impact of environment and culture on epigenetic profiles. • Predictive models and public health: use of GWAS and polygenic scores in different populations; implications for personalized medicine and global health. • Ethical issues and large-scale genomic projects.

Basic knowledge of Biology, Genetics, and Molecular Biology is important.

Luca Sineo, Jacopo Moggi Cecchi, Manuale di Antropologia. Evoluzione e biodiversità umana, UTET Università, 2022. Mark A. Jobling, Brenna Henn, Edward Hollox, Toomas Kivisild, Luca Pagani, Chris Tyler-Smith, Human Evolutionary Genetics (3rd ed., forthcoming 2026). At the beginning of the course, the instructor will present and discuss the reference textbooks, clarifying their use and study priorities. A selection of recent scientific articles relevant to the course topics will also be provided; these articles will be presented by students in class and discussed collectively. Additional materials (slides, chapters, online resources) will be made available during the course.

Attendance is not mandatory but strongly recommended.

Oral examination, with the option of presenting a topic of choice for attending students. The exam assesses knowledge in the (a) evolutionary, (b) molecular, and (c) paleoanthropological fields, with reference to human evolution. Final grade components (attending students): In-class presentation of a scientific article with discussion – 30% Final oral examination – 70% Assessment criteria: a) mastery of scientific content; b) ability for critical analysis and logical argumentation; c) use of appropriate language and scientific terminology; d) communication skills and ability to synthesize during the presentation. Non-attending students / students who do not give a presentation: The final grade will be based exclusively on the oral examination (100%).

Classes will be held in person and supported by multimedia presentations to ensure a clear and structured understanding of the theoretical content. The aim is to create a dynamic and interactive learning environment that encourages active student participation. In addition to lectures, current and relevant topics will be addressed and discussed, with particular attention to the ethical and social aspects related to research on human biodiversity and evolution. Students will be actively involved through: 1. Individual or group presentations of recent scientific articles published in international journals; 2. Class discussions on the scientific, methodological, and ethical implications of the selected articles. The course will also include the use of reference textbooks, which will be agreed upon and discussed with the instructor at the beginning of the course, as well as a selection of scientific articles to be assigned at the start of the course and organized by thematic module. Online delivery of classes will be implemented only in the event of objective impediments, ensuring full coverage of the course content in any circumstance.