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

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

Professional appointments
1988: Fellow of the Associazione Italiana per la Ricerca sul Cancro
1989-1992: PhD fellow at the Istituto di Genetica Biochimica ed Evoluzionistica (IGBE), National Research Council of Italy (CNR) Pavia.
1993-1998: PostDoc Fellow at the IGBE CNR, Pavia
1999-2000: CNR contract at the IGBE CNR, Pavia

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

2001-present: Staff Scientist at the Istituto di Genetica Molecolare (IGM) CNR, Pavia.

Scientific activity
Since 1989 she has been involved in CNR institutional research projects as well as in projects sponsored by the European Community and by public and private Italian Institutions (Ministry of Health, Ministry of Education, University and Research, Associazione Italiana per la Ricerca sul Cancro, Telethon and Cariplo Foundation).
She is interested in the study of inborn defects in transcription and/or DNA repair and their relationships with physical and mental development, cancer proneness and aging. In particular, she has experience in the genetic and molecular analysis of DNA repair processes in human cells and in the biochemical and molecular characterisation of patients with hereditary disorders defective in nucleotide excision repair (NER), namely trichothiodystrophy (TTD), xeroderma pigmentosum (XP) and Cockayne syndrome (CS). She has been involved in the definition of genotype-phenotype relationships in a large sample of patients affected by TTD, XP or CS and she demonstrated that instability of the repair/transcription factor TFIIH is a typical trait of TTD. Her present research interest is investigating the impact of NER alterations in different skin cell-types and during cell/tissue differentiation.
Broughton B. C., Thompson A. F., Harcourt S. A., Vermeulen W., Hoeijmakers J. H. J., Botta E., Stefanini M., King M. D., Weber C. A., Cole J., Arlett C. F. and Lehmann A. R. (1995) Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. Am. J. Hum. Genet. 56, 167-174

Stefanini M., Fawcett H., Botta E., Nardo T. and Lehmann A. R. (1996) Genetic analysis of twenty-two patients with Cockayne syndrome. Hum. Genet. 97, 418-423

Bush D. B., Zdzienicka M., Adayapalam T., Natarajan A. T., Jones N. J., Overkamps W. I. J., Collins A., Mitchell D., Stefanini M., Botta E., Bliss A. R., Liu N., White D., van Gool A. J. and Thompson L. H. (1996) A FAECB Chinese Hamster ovary cell mutant, UV 40, that is sensitive to diverse mutagens and represents a new complementation group of mitomycin C sensitivity. Mutat. Res. 363, 209-221

Moriwaki S., Stefanini M., Lehmann A. R., Hoeijmakers J. H. J., Robbins J. H., Rapin I., Botta E., Tanganelli B., Vermeulen W., Broughton B. C. and Kraemer K. H. (1996) DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome resemble xeroderma pigmentosum cells. J. Invest. Dermatology 107, 647-653

Taylor E., Broughton B. C., Botta E., Stefanini M., Sarasin A., Jaspers N. G. J., Fawcett H., Harcourt S. A., Arlett C. F. and Lehmann A. R. (1997) Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. Proc. Natl. Acad. Sci. USA 94, 8658-8663

Botta E., Nardo T., Broughton B. C., Marinoni S., Lehmann A. R. and Stefanini M. (1998) Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency but gene dosage appears to determine clinical severity. Am. J. Hum. Genet. 63, 1036-1048

Colella S., Nardo T., Botta E., Lehmann A. R. and 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. 8, 1171-1175

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

Botta E., Nardo T., Lehmann A. R., Egly J. M., Pedrini M. A. and Stefanini M. (2002) Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. Hum Mol Genet. 11, 2919-2928

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

Vesna Rapic-Otrin V., Navazza V., Nardo T., Botta E., McLenigan M., Bisi D.C., Levine A.S. and 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

Giglia-Mari G., Coin F., Ranish A.J., Hoogstraten D., Theil A., Wijgers N., Jaspers N.G.J., Raams A., Argentini M., van der Spek P.J., Botta E., Stefanini M., Egly J.M., Aebersold R., Hoeijmakers J.H.J., and Vermeulen W. (2004) A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. Nat. Genet. 36, 714-719

Fujimoto M., Leech S.N., Theron T., Fawcett H., Botta E., Mori M., Momoi M. Y., Moriwaki S., Stefanini M., Nagakawa H., Shuster S., Moss C. and Lehmann A.R. (2005) Two new XPD-CS patients with the same mutation demonstrating diverse clinical features. J. Invest. Dermatology 125, 86-92

Theron T., Fousteri M.I., Volker M., Harries L.W., Botta E., Stefanini M., Fujimoto M., Andressoo J.O., Mitchell J., Jaspers N.G., McDaniel L.D., Mullenders L.H. and Lehmann A.R. (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

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

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

Stefanini M., Botta E., Lanzafame M., Orioli D. (2010) Trichothiodystrophy: From basic mechanisms to clinical implications. DNA Repair 9, 2-10
No projects are available to students for the current accademic year.