Lygia V. Pereira
Associated Professor of Genetics, IB-USP
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1984-1989 Bachelor in Physiscs, Pontifícia Universidade Católica, Rio de Janeiro, RJ.
1989-1990 M.S. in Molecular Biology, Instituto de Biofísica Carlos Chagas Filho, UFRJ, Rio de Janeiro, RJ.
1989-1994 PhD in Human Molecular Genetics, City University of New York, Mount Sinai Graduate School, New York, NY, USA.

Research Interests  

Human Molecular Genetics
Marfan Syndrome
Pluripotent Stem Cells
Epigenetics – X chromosome inactivation

Research Overview   Major Research Lines:

(1) Marfan Syndrome (MFS) – lessons from animal models: MFS is an autosomal dominant disease of the connective tissue that affects the ocular, skeletal and cardiovascular systems. The disease is caused by mutations in the FBN1 gene, that code the fibrillin-1 protein, a major structural component of the extracellular microfibers. By homologous recombination in ES cells, we have established two mouse models for MFS: one containing a FBN1 null allele (mgNull), and another with a deletion of exons 18-25 (mgΔloxPneo). In these models we study the mechanisms of pathogenesis of the disease; genetic and epigenetic factors modifying the phenotype, and we try new therapies for MFS.
(2) Epigenetic inheritance – X chromosome inactivation (XCI): we are particularly interested in the process of maintenance of the inactive state of the X chromosome throughout mitosis in human cells. For that, we have developed functional tests that allow the screening of new genes involved in this process. We also work in the characterization of human embryonic stem cells as an in vitro model for the study of XCI.
(3) Establishment of new lines of human embryonic stem cells (hESC): Our group is involved in the derivation of new lines of hESC from the Brazilian population, for use in research and therapy. Our interest is to study the epigenetic state of these cells cultured/derived in different conditions.
(4) Analysis of the role of GBA mutations in the development of Parkinsonism using induced pluripotent stem cells (iPSC): Recent works have shown a higher frequency of Gaucher disease causing GBA mutations in patients with Parkinsonism (PD). This projects aims the establishment of iPSC lines from patients with PD and mutations in the GBA gene, where we will be able to study the molecular mechanisms behind this association.
(5) National Laboratory of Emrbyonic Stem Cells (LaNCE): this is one of eight Centers for Cell Technology sponsored by the Minsitries of Health, and Science and Technology for the production of stem cells under GMP conditions. LaNCE’s specific mission is to promote research and therapy with pluripotetn stem cells in Brazil. This is a project in collaboration with Prof. Stevens Rehen’s group, at UFRJ.

Lab Staff  

Molecular Genetics Group
Erica Sara M.S. , Student/FAPESP
Fernando Sábio M.S., Student/FAPESP
Gustavo Ribeiro Fernandes, PhD Student/FAPESP
Fernanda Silvestre, PhD Student/CAPES
Ana Maria Fraga, PhD Student/FAPESP
Cynthia Quinderé Cardoso, PhD Student/CNPq
Joana Carvalho Moreira de Mello, PhD Student/FAPESP
Naja Vergani, PhD Student/CAPES
Giovana Pirolla Cardozo, PhD Student/FAPESP
Simone Fonseca, Post-Doc/CAPES
Bruno Lazzari Lima, Post-Doc/FAPESP
Mariana Morato Marques, Technical support
Ana Patrícia Kamisaki Santana, Administrative support



Egberto Reis Barbosa, PhD
Universidade de São Paulo, Faculdade de Medicina da Universidade de São Paulo, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. 
Av. Dr. Enéas de Carvalho Aguiar, 255
Cerqueira César
05403-000 – Sao Paulo, SP – Brasil
Telefone: (11) 30696401 Fax: (11) 30827548

Silvia Maria Gomes Massironi, PhD
Universidade de São Paulo, Instituto de Ciências Biomédicas, Departamento de Imunologia.
05508-900 – Sao Paulo, SP – Brasil
Telefone: (11) 30917398 Fax: (11) 30917224

International Collaborators  

Jeanne Loring, PhD
Professor of Developmental Neurobiology
Director of the Center for Regenerative Medicine
Department of Chemical Physiology
California Campus
Laboratory Website
(858) 784-7767 

Facilities Coordination    
Selected Publications  

FRAGA AM, ARAÚJO ESS, STABELLINI R, VERGANI N, PEREIRA LV. A Survey of Parameters Involved in the Establishment of New Lines of Human Embryonic Stem Cells. Stem Cell Reviews, v.1, p.1 – , 2011.AMPS K, ANDREWS PW, ANYFANTIS G, ARMSTRONG L, AVERY S, BAHARVAND H, BAKER J, BAKER D, MUNOZ MB, BEIL S, BENVENISTY N, BEN-YOSEF D, BIANCOTTI JC, BOSMAN A, BRENA RM, BRISON D, CAISANDER G, CAMARASA MV, CHEN J, CHIAO E, CHOI YM, CHOO ABH, COLLINS D, COLMAN A, CROOK J M, DALEY GQ, DALTON A, DE SOUSA PA, DENNING C, DOWNIE J, DVORAK, MONTGOMERY KD, FEKI A, FORD A, FOX V, FRAGA AM, FRUMKIN T, GE L, GOKHALE PJ, GOLAN-LEV T, PEREIRA, LV. et al. Screening ethnically diverse human embryonic stem cells identifies a chromosome 20 minimal amplicon conferring growth advantage. Nature Biotechnology, 29:1132–1144, 2011.Fraga, A.M. ; Soukoyan, M. ; Rajan, P ; de Almeida Ferreira Braga, Daniela ; IACONELLI JR., A. ; José Gonçalves Franco Jr ; BORGES JR., E. ; Pereira, L.V. . Establishment Of A Brazilian Line Of Human Embryonic Stem Cells In Defined Medium – Implications For Cell Therapy In An Ethnically Diverse Population. Cell Transplantation, v. 1, p. 1, 2010.Moreira de Mello, Joana Carvalho ; Araújo, Érica Sara Souza de ; Stabellini, Raquel ; Fraga, Ana Maria ; Souza, Jorge Estefano Santana de ; Sumita, Denilce R. ; Camargo, Anamaria A. ; Pereira, Lygia V. . Random X Inactivation and Extensive Mosaicism in Human Placenta Revealed by Analysis of Allele-Specific Gene Expression along the X Chromosome. Plos One, v. 5, p. e10947, 2010.E. Sidransky, et al. Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson’s Disease. New England Journal of Medicine, 361:1651-61, 2009.Raquel Stabellini, Joana Carvalho Moreira de Mello, Lys Molina Hernandes, Lygia V. Pereira. MAOA and GYG2 are submitted to X chromosome inactivation in human fibroblasts. Epigenetics, 4:1-8, 2009.VASQUES, L.R., STABELINI, R., SUKOYAN, M., E PEREIRA, L.V. XIST repression in the absence of DNMT1 and DNMT3B. DNA Research, 12:373-378, 2005.CARTA C, PEREIRA L, ARTEAGA-SOLIS E, LEE-ARTEAGA SY, STARCHER B, MERKEL CA, SUKOYAN M, KERKIS A, HAZEKI N, KEENE DR, SAKAI LY E RAMIREZ F. Fibrillins 1 and 2 perform partially overlapping roles during aortic development. Journal of Biological Chemistry 281(12):8016-8023, 2005.XUE, F., TIAN, C., DU, F., KUBOTA, C., TANEJA, M., DINNYES, A., DAI, Y., LEVINE, H., PEREIRA, L.V., E YANG, X. Aberrant patterns of X chromosome inactivation in bovine clones. Nature Genetics, vol. 31(6):216-220, 2002.Sukoyan, M.A., Kerkis, A.Y., Mello, M.R.B., Kerkis, I.E., Visintin, J.A., Pereira, L.V. Establishment of new murine embryonic stem (ES) cell lines for the generation of mouse models for human genetic diseases. Braz. J. Med. Biol. Res., vol. 35(5):535-542, 2002.Vasques, L.R., and Pereira, L.V. Allele-specific X-linked gene activity in normal human cells assayed by expressed single nucleotide polymorphisms (cSNPs). DNA Research, vol. 8(4):173-177, 2001.