Elena Botta
Elena Botta
affiliation: Istituto di Genetica Molecolare-CNR, Pavia
research area(s): Experimental Medicine, Molecular Biology
Course: Genetics, Molecular and Cellular Biology
University/Istitution: Università di Pavia
Born in Novara (Italy) on the 27 November 1962

Education and training
March 1986: Graduation in Biology cum laude at the University of Pavia
July 1992: PhD in Genetics and Molecular Biology at the University of Pavia

1993-1999: Post-doc fellow at the Istituto di Genetica Molecolare (IGM) CNR, Pavia
1999-2000: Research contract at the IGM CNR, Pavia

1994: Visiting Scientist at the laboratory of Prof. AR Lehmann, University of Sussex Brighton UK
1996 and 2002: Visiting Scientist at the laboratory of Prof. JM Egly, Institut de Génétique et de Biologie Moléculaire et Cellulaire Strasbourg France

Employment and research experience
2001-present: Staff Scientist at the IGM CNR Pavia
She is member of the Section of Human Genetics and Genomics which operates since many years with financial support of private Italian Institutions such as Telethon and Associazione Italiana per la Ricerca sul Cancro (AIRC).

2006-2011: Proponent Professor of the PhD programme in Genetic and Biomolecular Sciences at the University of Pavia

2011-present: Proponent Professor of the PhD programme in Genetics, Molecular and Cellular Biology at the University of Pavia
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.
Publications since 2000

1. Colella S, Nardo T, Botta E, Lehmann AR, Stefanini M. 2000. Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosum. Hum Mol Genet 9: 1171-1175

2. Santagati F, Botta E, Stefanini M, Pedrini AM. 2001. Different dynamics in nuclear entry of subunits of the repair/transcription factor TFIIH. Nucleic Acids Res 29: 1574-1581

3. Botta E, Nardo T, Lehmann AR, Egly JM, Pedrini AM, Stefanini M. 2002. Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. Hum Mol Genet 11: 2919-2928

4. D'Errico M, Teson M, Calcagnile A, Proietti De Santis L, Nikaido O, Botta E, Zambruno G, Stefanini M, Dogliotti E. 2003. Apoptosis and efficient repair of DNA damage protect human keratinocytes against UV-B. Cell Death Differ 10: 754-756

5. Rapić-Otrin V, Navazza V, Nardo T, Botta E, McLenigan M, Bisi DC, Levine AS, Stefanini M. 2003. True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product. Hum Mol Genet 12: 1507-1522

6. Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W. 2004. A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystropy group A. Nat Genet 36: 714-719

7. Fujimoto M, Leech SN, Theron T, Mori M, Fawcett H, Botta E, Nozaki Y, Yamagata T, Moriwaki S, Stefanini M, Momoi MY, Nakagawa H, Shuster S, Moss C, Lehmann AR. 2005. Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical features. J Invest Dermatol 125: 86-92

8. Theron T, Fousteri MI, Volker M, Harries LW, Botta E, Stefanini M, Fujimoto M, Andressoo JO, Mitchell J, Jaspers NG, McDaniel LD, Mullenders LH, Lehmann AR. 2005. Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome. Mol Cell Biol 25: 8368-8378

9. Botta E, Offman J, Nardo T, Ricotti R, Zambruno G, Sansone D, Balestri P, Raams A, Kleijer WJ, Jaspers NG, Sarasin A, Lehmann AR, Stefanini M. 2007. Mutations in the C7orf11 (TTDN1) gene in six non-photosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. Hum Mutat 28: 92-96

10. Botta E, Nardo T, Orioli D, Guglielmino R, Ricotti R, Bondanza S, Benedicenti F, Zambruno G, Stefanini M. 2009. Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene. Hum Mutat 30: 438-445

11. Stefanini M, Botta E, Lanzafame M, Orioli D. 2010. Trichothiodystrophy: from basic mechanisms to clinical implications. DNA Repair 9: 2-10

12. Orioli D, Compe E, Nardo T, Mura M, Giraudon C, Botta E, Arrigoni L, Peverali FA, Egly JM, Stefanini M. 2013. XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression. Hum Mol Genet 22: 1061-1073

13. Lanzafame M, Vaz B, Nardo T, Botta E, Orioli D, Stefanini M. 2013. From laboratory tests to functional characterisation of Cockayne syndrome. Mech Ageing Dev 134 :171-179

14. Corbett MA, Dudding-Byth T, Crock PA, Botta E, Christie LM, Nardo T, Caligiuri G, Hobson L, Boyle J, Mansour A, Friend KL, Crawford J, Jackson G, Vandeleur L, Hackett A, Tarpey P, Stratton MR, Turner G, Gécz J, Field M. 2015. A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. J Med Genet 52: 269-274 as 10.1136/jmedgenet-2014-102418

15. Lanzafame M, Botta E, Teson M, Fortugno P, Zambruno G, Stefanini M, Orioli D. 2015. Reference genes for gene expression analysis in proliferating and differentiating keratinocytes. Exp Dermatol 24:314-316

16. Fassihi H, Sethi M, Fawcett H, Wing JF, Chandler N, Mohammed S, Craythorne E, Morley S, Lim R, Turner S, Henshaw T, Garrood I, Giunti P, Hedderley T, Abiona A, Naik H, Harrop G, McGibbon D, Jaspers NG, Botta E, Nardo T, Stefanini M, Young AR, Sarkany RPE, Lehmann AR. 2016. Xeroderma Pigmentosum: Deep phenotyping of 89 patients reveals unexpected heterogeneity dependent on the precise molecular defect. Proc Natl Acad Sci USA, www.pnas.org/cgi/doi/10.1073/pnas.1519444113

17. Kuschal C*, Botta E*, Orioli D*, Digiovanna JJ, Seneca S, Keymolen K, Tamura D, Heller E, Khan SG, Caligiuri G, Lanzafame M, Nardo T, Ricotti R, Peverali FA, Stephens R, Zhao Y, Lehmann AR, Baranello L, Levens D, Kraemer KH, Stefanini M. 2016. GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy. Am J Hum Genet, 98: 627-642
*Equal contribution
No projects are available to students for the current accademic year.