Universitą degli studi di Pavia
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Carossa research activity
PhD research activity
During the PhD program my research activity dealt with the analysis of normal and pathological variation of human mitochondrial DNA, which plays a central role in many physiological functions and also serves as genetic and chronological marker to infer data on human origin and migrations. In particular, concerning the population genetics studies, I’ve focused on the major re-expansion events occurred in Europe after the Last Glacial Maximum (20,000 years ago). I analysed a large sample of modern Bulgarians, to define their mitochondrial haplogroup composition. Subsequently, I performed a Principal Component Analysis with about 50 Eurasian countries describing a more comprehensive and precise genetic landscape, also accounting for some historical events in the migrational dynamics that shaped the nowadays-Bulgarian genetic pool. Moreover, to discover new genetic evidences of post-glacial expansion, I dissected the U5a haplogroup studying its worldwide phylogeographical distribution, molecular variation and coalescence age (with different statistical methods). The complex resulting scenario yields two promising sub-clades, proposed as new markers: a first one as a late-Mesolithic branch irradiating from an Eastern European enclave and a second one as a Neolithic identifier of a local expansion occurred south of the Alps. Finally, I characterized the molecular defect of a patient who suffers from a mitochondrial myopathy with exercise intolerance. The complete mitochondrial sequence revealed an important deletion of 18-bp in the cytochrome b gene. The reading remains in frame but six aminoacids are lost: a bioinformatic inference tool predicts that the local secondary structure remains an alpha-helix but the exact steric changes are still unsolved. Together with these personal projects I also contributed to several other works ongoing in the group, see the publication list for details.
During the PhD program my research activity dealt with the analysis of normal and pathological variation of human mitochondrial DNA, which plays a central role in many physiological functions and also serves as genetic and chronological marker to infer data on human origin and migrations. In particular, concerning the population genetics studies, I’ve focused on the major re-expansion events occurred in Europe after the Last Glacial Maximum (20,000 years ago). I analysed a large sample of modern Bulgarians, to define their mitochondrial haplogroup composition. Subsequently, I performed a Principal Component Analysis with about 50 Eurasian countries describing a more comprehensive and precise genetic landscape, also accounting for some historical events in the migrational dynamics that shaped the nowadays-Bulgarian genetic pool. Moreover, to discover new genetic evidences of post-glacial expansion, I dissected the U5a haplogroup studying its worldwide phylogeographical distribution, molecular variation and coalescence age (with different statistical methods). The complex resulting scenario yields two promising sub-clades, proposed as new markers: a first one as a late-Mesolithic branch irradiating from an Eastern European enclave and a second one as a Neolithic identifier of a local expansion occurred south of the Alps. Finally, I characterized the molecular defect of a patient who suffers from a mitochondrial myopathy with exercise intolerance. The complete mitochondrial sequence revealed an important deletion of 18-bp in the cytochrome b gene. The reading remains in frame but six aminoacids are lost: a bioinformatic inference tool predicts that the local secondary structure remains an alpha-helix but the exact steric changes are still unsolved. Together with these personal projects I also contributed to several other works ongoing in the group, see the publication list for details.
