Universitą degli studi di Pavia


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Botta research activity

She has long lasting experience in the field of human genetics with a special focus on the analysis and functional characterization of mutations responsible for rare diseases. In particular, she has been involved in the definition of the primary alteration in a large sample of families with members affected by hereditary disorders defective in the DNA repair process “nucleotide excision repair”, namely trichothiodystrophy (TTD), xeroderma pigmentosum (XP) and Cockayne syndrome (CS). She identified the molecular defects in the ERCC2/XPD gene responsible for different pathological phenotypes (TTD, XP, XP/CS) and she demonstrated that mutations responsible for the photosensitive form of TTD typically cause instability of the DNA repair/transcription complex TFIIH. She contributed to the definition of the MPLKIP/TTDN1 mutational pattern in non-photosensitive TTD patients. Recently, she identified GTF2E2 as a gene involved in non-photosensitive TTD and demonstrated a first link between the two forms of the disease. Her present activity is focused on search of new genes underlying non-photosensitive TTD and on study of etiopathogenesis of this form of the disease.

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