Alessandra Pelegrini

From Laboratório de Reparo de DNA

BSc, Biological Sciences, Universidade Federal do Rio Grande do Sul – UFRGS, (2001/2005).
MSc, Celular and Molecular Biology, Universidade Federal do Rio Grande do Sul – UFRGS, (2006/2007).
PhD, Celular and Molecular Biology, Universidade Federal do Rio Grande do Sul - UFRGS and Universidade de São Paulo – USP, ( 2007/2012).

Has experience in Cell Biology, Molecular Biology and Next Generation Sequencing (NGS) on the identification of causative mutations for Mendelian diseases related to DNA repair deficiencies.

The researcher has experience in cell and molecular biology, culture of human and animal cells, proteomics and mass spectrometry, microscopy and immunofluorescence, drug testing and cytotoxicity.
Research keywords: Cancer, DNA repair,/b>, <b>Replicative stress, Genetic instability and Chemotherapy and Therapeutic resistance

Contato: aleepelegrini[at]

Current Project

Genotypic and phenotypic characterization of xeroderma pigmentosum (XP), cockayne syndrome (CS) and trichothiodystrophy (TTD) patients in Brazil

Deficiencies in nucleotide excision repair lead to human disorders where patients display photosensitivity and/or neurological problems, such as xeroderma pigmentosum (XP), cockayne syndrome (CS) and trichothiodystrophy (TTD). Case reports and genotypic descriptions of patients have been published worldwide, mainly in North America, Europe, Africa and Japan. The follow up of these patients for decades and the study with these cells led to the understanding of what is currently known about the molecular pathways and genetic defects involved in the phenotypes of these syndromes. In Brazil, a few case-reports describe some patients with these phenotypes, and genetic and molecular characterizations are scarce. With the possibility to identify mutations directly by Next Generation Sequencing (NGS) technique, we initiated a project to diagnose the mutations involved in these NER syndromes, mainly XP. Therefore, we also plan to investigate the origins of these mutations and ancestries by the analysis of haplotypes with SNP-array assays.


Munford V*, Castro LP*, Souto R, Lerner LK, Vilar JB, Quayle C, Asif H, Schuch AP, de Souza TA, Ienne S, Alves FIA, Moura LMS, Galante PAF, Camargo AA, Liboredo R, Pena SDJ, Sarasin A, Chaibub SC, Menck CFM (2017). A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations. British Journal of Dermatology. 176 (5), 1270-1278.
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Pedroso JL, Munford V, Bastos AU, Castro LP, Marussi VHR, Silva GS, Arita JH, Menck CFM, Barsottini OG (2017). LMNB1 mutation causes cerebellar involvement and a genome instability defect. Journal of the Neurological Sciences. 379:249-252.
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Lerner LK, Francisco G, Soltys DT, Rocha CR, Quinet A, Vessoni AT, Castro LP, David TI, Bustos SO, Strauss BE, Gottifredi V, Stary A, Sarasin A, Chammas R, Menck CF (2016). Predominant role of DNA polymerase eta and p53-dependent translesion synthesis in the survival of ultraviolet-irradiated human cells. Nucleic Acids Research. 45 (3), 1270-1280.
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