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 resulting in different pathological phenotypes (TTD, XP, XP/CS) and she demonstrated that mutations associated with the photosensitive form of TTD typically cause instability of the DNA repair/transcription complex TFIIH. She also provided information on the mutational pattern of MPLKIP/TTDN1 in non-photosensitive TTD patients. In the last years, she contributed to expand the spectrum of TTD-associated genes by whole exome sequencing. Her studies allowed characterization of causative alterations in the GTF2E2 gene encoding the beta subunit of the transcription factor TFIIE and in the TARS gene encoding the threonyl tRNA synthetase, thus providing new insights into the etiopathogenesis of the disease.
Publications in the last ten years

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

2. 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

3. 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

4. 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

5. 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

6. 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

7. 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

8. Calmels N*, Botta E*, Jia N*, Fawcett H, Nardo T, Nakazawa Y, Lanzafame M, Moriwaki S, Sugita K, Kubota M, Obringer C, Spitz MA, Stefanini M, Laugel V, Orioli D, Ogi T, Lehmann A. 2018. Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. J Med Genet doi: 10.1136/jmedgenet-2017-104877
*Equal contribution

9. Ricotti R, Nardo T, Striano P, Stefanini M, Orioli D, Botta E. 2018. Phenotypic variability in xeroderma pigmentosum group G: an uncommon case with severe prenatal-onset Cockayne syndrome features. Clinical Genet doi: 10.1111/cge.13364

10. Ferri D, Orioli D, Botta E. 2019. Heterogeneity and overlaps in nucleotide excision repair disorders. Clinical Genet doi: 10.1111/cge.13545

11. Theil AF*, Botta E*, Raams A, Smith DEC, Mendes MI, Caligiuri G, Giachetti S, Bione S, Carriero R, Liberi G, Zardoni L, Swagemakers SMA, Salomons GS, Sarasin A, Lehmann A, van der Spek PJ, Ogi T, Hoeijmakers JHJ, Vermeulen W, Orioli D. 2019. Bi-allelic TARS mutations are associated with brittle hair phenotype. Am J Hum Genet 105: 434-440 doi: 10.1016/j.ajhg.2019.06.017
*Equal contribution
No projects are available to students for the current accademic year.