Elena Botta

Istituto di Genetica Molecolare “Luigi Luca Cavalli-Sforza” – CNR
Via Abbiategrasso, 207
27100 Pavia
Phone: 0382 546331

E-mail: elena.botta@igm.cnr.it

Curriculum Vitae – Download

Complete List of Publications – Download

Research Activity

She has long-lasting experience in the field of human genetics with a special focus on rare diseases. In particular, she has been involved in the molecular and functional characterization of trichothiodystrophy (TTD), Cockayne syndrome (CS) and xeroderma pigmentosum (XP), three disorders due to alterations in factors involved in DNA repair by the “nucleotide excision repair” (NER) pathway. She identified the mutations in the ERCC2/XPD gene underlying different pathological phenotypes (TTD, XP, combined XP/CS) and she contributed to clarify the functional role of the XPD subunit of the DNA repair/transcription complex TFIIH. She has been also involved in the characterization of the molecular defects associated to the non-photosensitive form of TTD. In this context she recently identified new disease-genes and characterized the functional alterations, suggesting the hypothesis of TTD as gene expression syndrome. Her present activity is aimed at clarifying the genetic and molecular basis of still unsolved TTD or XP cases by means of next generation sequencing technologies.

Research Projects

Research Group

Recent Publications


Lanzafame M; Nardo T; Ricotti R; Pantaleoni C; D'Arrigo S; Stanzial F; Benedicenti F; Thomas MA; Stefanini M; Orioli D; Botta E

TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy Journal Article

In: Human mutation, vol. 43, iss. 12, pp. 2222, 2022.

Abstract | Links | BibTeX


Agolini E; Botta E; Lodi M; Digilio MC; Rinelli M; Bellacchio E; Alesi V; Nardo T; Zambruno G; Orioli D; Alessi I; Boccuto L; Rossi S; Carai A; Colafati GS; Cacchione A; Dallapiccola B; Novelli A; Mastronuzzi A.

Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene Journal Article

In: Clinical genetics, vol. 99, no. 6, pp. 842-848, 2021.

Abstract | Links | BibTeX

Botta E; Theil AF; Raams A; Caligiuri G; Giachetti S; Bione S; Accadia M; Lombardi A; Smith DEC; Mendes MI; Swagemakers SMA; van der Spek PJ; Salomons GS; Hoeijmakers JHJ; Yesodharan D; Nampoothiri S; Ogi T; Lehmann AR; Orioli D; Vermeulen W

Protein instability associated with AARS1 and MARS1 mutations causes Trichothiodystrophy Journal Article

In: Human molecular genetics, vol. 30, iss. 18, no. 1711, pp. 1720, 2021.

Abstract | Links | BibTeX

Lombardi A; Arseni L; Carriero R; Compe E; Botta E; Ferri D; Uggè M; Biamonti G; Peverali FA; Bione S; Orioli D

Reduced levels of prostaglandin I 2 synthase: a distinctive feature of the cancer-free trichothiodystrophy Journal Article

In: Proceedings of the National Academy of Sciences of the United States of America., vol. 118, no. 26, 2021.

Abstract | Links | BibTeX


Ferri D; Orioli D; Botta E

Heterogeneity and overlaps in nucleotide excision repair disorders. Journal Article

In: Clinical Genetics, vol. 97, no. 1, pp. 12-24, 2020.

Abstract | Links | BibTeX


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

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype. Journal Article

In: American Journal of Human Genetics, vol. 105, no. 2, pp. 434-440, 2019.

Abstract | Links | BibTeX


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 AR

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. Journal Article

In: Journal of medical genetics, vol. 55, no. 5, pp. 329-343, 2018.

Abstract | Links | BibTeX

Ricotti R; Nardo T; Striano P; Stefanini M; Orioli D; Botta E

Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features. Journal Article

In: Clinical Genetics, vol. 94, no. 3-4, pp. 386-388, 2018.

Abstract | Links | BibTeX


Fassihi H; Sethi M; Fawcett H; Wing J; Chandler N; Mohammed S; Craythorne E; Morley AM; Lim R; Turner S; Henshaw T; Garrood I; Giunti P; Hedderly T; Abiona A; Naik H; Harrop G; McGibbon D; Jaspers NG; Botta E; Nardo T; Stefanini M; Young AR; Sarkany RP; Lehmann AR

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. Journal Article

In: Proceedings of the National Academy of Sciences of the United States of America, vol. 113, no. 9, pp. 1236-1245, 2016.

Abstract | Links | BibTeX

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

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy. Journal Article

In: American Journal of Human Genetics, vol. 98, no. 4, pp. 627-642, 2016.

Abstract | Links | BibTeX


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

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. Journal Article

In: Journal of Medical Genetics, vol. 52, no. 4, pp. 269-274, 2015.

Abstract | Links | BibTeX

Lanzafame M; Botta E; Teson M; Fortugno P; Zambruno G; Stefanini M; Orioli D

Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes. Journal Article

In: Experimental Dermatology, vol. 24, no. 4, 2015.

Abstract | Links | BibTeX