Maria João Prata

mprata@ipatimup.pt

RESEARCH ACTIVITIES AND INTERESTS

Human molecular genetics
Population genetics
Pharmacogenetics
Diagnosis of genetic diseases

EDUCATION

Degree in Biology by the Faculty of Sciences, University of Porto, in 1980; PhD in Human Genetics in 1991.
Associate Professor of the same Faculty since 2000.

PUBLICATIONS

Molecular characterization of maple syrup urine disease patients from Tunisia.
Jaafar N,Moleirinho A,Kerkeni E,Monastiri K,Seboui H,Amorim A,Prata MJ,Quental S
Gene.2013;517(1):116-119.

A method for the analysis of 32 X chromosome insertion deletion polymorphisms in a single PCR.
Pereira R,Pereira V,Gomes I,Tomas C,Morling N,Amorim A,Prata MJ,Carracedo A,Gusmao L,
Int J Legal Med.2012;126(1):97-105.

Reconstructing the Indian origin and dispersal of the European Roma: a maternal genetic perspective.
Mendizabal I,Valente C,Gusmao A,Alves C,Gomes V,Goios A,Parson W,Calafell F,Alvarez L,Amorim A,Gusmao L,Comas D,Prata MJ,
PLoS One.2011;6(1):e15988-.

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.
Coutinho MF,Encarna��o M,Gomes R,da Silva Santos L,Martins S,Sirois-Gagnon D,Bargal R,Filocamo M,Raas-Rothschild A,Tappino B,Laprise C,Cury GK,Schwartz IV,Artigal�s O,Prata MJ,Alves S,
Clin Genet..2011;80(3):273-280.

Study of 25 X-chromosome SNPs in the Portuguese.
Pereira V,Tomas C,Amorim A,Morling N,Gusmao L,Prata MJ,
Forensic Sci Int Genet.2011;5(4):336-338.

VKORC1 polymorphisms in Brazilians: comparison with the Portuguese and Portuguese-speaking Africans and pharmacogenetic implications.
Suarez-Kurtz G,Amorim A,Damasceno A,Hutz MH,de Moraes MO,Ojopi EB,Pena SD,Perini JA,Prata MJ,Ribeiro-dos-Santos A,Romano-Silva MA,Teixeira D,Struchiner CJ,
Pharmacogenomics.2010;11(9):1257-1267.

High prevalence of the GSTM3*A/B polymorphism in sub-Sarahan African populations.
Teixeira D,Vargens D,Principe A,Oliveira E,Amorim A,Prata MJ,Suarez-Kurtz G,
Braz J Med Biol Res.2010;43(7):677-680.

Genetic profiling of the Azores Islands (Portugal): data from 10 X-chromosome STRs.
Silva F,Pereira R,Gusmao L,Santos C,Amorim A,Prata MJ,Bettencourt C,Lourenco P,Lima M,
Am J Hum Biol.2010;22(2):221-223.

Incidence of maple syrup urine disease in Portugal.
Quental S,Vilarinho L,Martins E,Teles EL,Rodrigues E,Diogo L,Garcia P,Eusebio F,Gaspar A,Sequeira S,Amorim A,Prata MJ,
Mol Genet Metab.2010;100(4):385-387.

A genetic historical sketch of European Gypsies: The perspective from autosomal markers.
Gusmao A,Valente C,Gomes V,Alves C,Amorim A,Prata MJ,Gusmao L,
Am J Phys Anthropol.2010;141(4):507-514.

Patterns of pharmacogenetic diversity in African populations: role of ancient and recent history.
Oliveira E,Pereira R,Amorim A,McLeod H,Prata MJ,
Pharmacogenomics.2009;10(9):1413-1422.

The Karimojong from Uganda: genetic characterization using an X-STR decaplex system.
Gomes I,Pereira V,Gomes V,Prata MJ,Pinto N,Carracedo A,Amorim A,Gusmao L,
Forensic Sci Int Genet.2009;3(4):e127-e128.

Polymorphisms in one-carbon metabolism pathway genes and risk for bladder cancer in a Tunisian population.
Rouissi K,Ouerhani S,Oliveira E,Marrakchi R,Cherni L,Ben OF,Ben Slama MR,Sfaxi M,Ayed M,Chebil M,Amorim A,Prata MJ,Benammar EA,
Cancer Genet Cytogenet.2009;195(1):43-53.

Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene.
Quental S,Gusmao A,Rodriguez-Pombo P,Ugarte M,Vilarinho L,Amorim A,Prata MJ,
Ann Hum Genet.2009;73(Pt 3):298-303.

Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.
Quental S,edo-Ribeiro S,Matos R,Vilarinho L,Martins E,Teles EL,Rodrigues E,Diogo L,Garcia P,Eusebio F,Gaspar A,Sequeira S,Furtado F,Lanca I,Amorim A,Prata MJ,
Mol Genet Metab.2008;94(2):148-156.

A perspective on the history of the Iberian gypsies provided by phylogeographic analysis of Y-chromosome lineages.
Gusmao A,Gusmao L,Gomes V,Alves C,Calafell F,Amorim A,Prata MJ,
Ann Hum Genet.2008;72(Pt 2):215-227.

Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and Mozambique.
Oliveira E,Quental S,Alves S,Amorim A,Prata MJ,
Eur J Clin Pharmacol.2007;63(7):703-706.

Pharmacogenetically relevant polymorphisms in Portugal.
Oliveira E,Marsh S,van Booven DJ,Amorim A,Prata MJ,McLeod HL,
Pharmacogenomics.2007;8(7):703-712.

Population data for Y-chromosome haplotypes defined by 17 STRs (AmpFlSTR YFiler) in Portugal.
Alves C,Gomes V,Prata MJ,Amorim A,Gusmao L,
Forensic Sci Int.2007;171(2-3):250-255.

Methylenetetrahydrofolate reductase and methionine synthase polymorphisms and risk of bladder cancer in a Tunisian population.
Ouerhani S,Oliveira E,Marrakchi R,Ben Slama MR,Sfaxi M,Ayed M,Chebil M,Amorim A,El Gaaied AB,Prata MJ,
Cancer Genet Cytogenet.2007;176(1):48-53.

Analysis of 10 X-STRs in three African populations.
Gomes I,Alves C,Maxzud K,Pereira R,Prata MJ,Sanchez-Diz P,Carracedo A,Amorim A,Gusmao L,
Forensic Sci Int Genet.2007;1(2):208-211.

Peopling of the Azores Islands (Portugal): data from the Y chromosome.
Fernando O,Mota P,Lima M,Silva C,Montiel R,Amorim A,Prata MJ,
Hum Biol.2005;77(2):189-199.

The MTHFR C677T and A1298C polymorphisms and susceptibility to childhood acute lymphoblastic leukemia in Portugal.
Oliveira E,Alves S,Quental S,Ferreira F,Norton L,Costa V,Amorim A,Prata MJ,
J Pediatr Hematol Oncol.2005;27(8):425-429.

Tracing the origin of the most common thiopurine methyltransferase (TPMT) variants: preliminary data from the patterns of haplotypic association with two CA repeats.
Alves S,Rocha J,Amorim A,Prata MJ,
Ann Hum Genet.2004;68(Pt 4):313-323.

A recent shift from polygyny to monogamy in humans is suggested by the analysis of worldwide Y-chromosome diversity.
Dupanloup I,Pereira L,Bertorelle G,Calafell F,Prata MJ,Amorim A,Barbujani G,
J Mol Evol.2003;57(1):85-97.

Evolution of a VNTR located within the promoter region of the thiopurine methyltransferase gene: inferences from population and sequence data.
Alves S,Amorim A,Prata MJ,
Hum Genet.2002;111(2):172-178.

Mismatch distribution analysis of Y-STR haplotypes as a tool for the evaluation of identity-by-state proportions and significance of matches--the European picture.
Pereira L,Prata MJ,Amorim A,
Forensic Sci Int.2002;130(2-3):147-155.

STR data from S. Tome e Principe (Gulf of Guinea, West Africa).
Gusmao L,Prata MJ,Miranda C,de Jesus TM,Amorim A,
Forensic Sci Int.2001;116(1):53-54.

STR data for the AmpFlSTR profiler plus loci from Macau (China).
Gusmao L,Prata MJ,Sanchez-Diz P,Lareu MV,Carracedo A,Alves C,Martins N,Amorim A,
Forensic Sci Int.2001;123(1):74-75.

Prehistoric and historic traces in the mtDNA of Mozambique: insights into the Bantu expansions and the slave trade.
Pereira L,Macaulay V,Torroni A,Scozzari R,Prata MJ,Amorim A,
Ann Hum Genet.2001;65(Pt 5):439-458.

Influence of the variable number of tandem repeats located in the promoter region of the thiopurine methyltransferase gene on enzymatic activity.
Alves S,Amorim A,Ferreira F,Prata MJ,
Clin Pharmacol Ther.2001;70(2):165-174.

Characterization of three new VNTR alleles in the promoter region of the TPMT gene.
Alves S,Ferreira F,Prata MJ,Amorim A,
Hum Mutat.2000;15(1):121-.

Screening of thiopurine S-methyltransferase mutations by horizontal conformation-sensitive gel electrophoresis.
Alves S,Prata MJ,Ferreira F,Amorim A,
Hum Mutat.2000;15(3):246-253.

Diversity of mtDNA lineages in Portugal: not a genetic edge of European variation.
Pereira L,Prata MJ,Amorim A,
Ann Hum Genet.2000;64(Pt 6):491-506.

Allelic affinities between the F13A common gene products inferred by the analysis of an (AAAG)n STR polymorphism within the 5' untranslated region.
Prata MJ,Miranda C,Rocha J,Amorim A,
Hum Hered.2000;50(3):189-193.

Variation in STR loci of the human myelin basic protein gene: north Portugal and Sao Tome e Principe.
Pereira L,Gusmao L,Prata MJ,Mota P,Trovoada MJ,Amorim A,
Hum Biol.2000;72(3):481-487.

Thiopurine methyltransferase pharmacogenetics: alternative molecular diagnosis and preliminary data from Northern Portugal.
Alves S,Prata MJ,Ferreira F,Amorim A,
Pharmacogenetics.1999;9(2):257-261.

Detection of additional structural variation at the FES/FPS system and population data from S. Tome e Principe and North Portugal.
Pereira L,Gusmao L,Prata MJ,Moto P,Trovoada MJ,Amorim A,
Int J Legal Med.1999;112(3):204-206.

Characterization of four short tandem repeat loci (THO1, VWA31/A, CD4, and TP53) in northern Portugal.
Gusmao L,Prata MJ,Amorim A,Silva F,Bessa I,
Hum Biol.1997;69(1):31-40.

Failed PCR amplifications of MBP-STR alleles due to polymorphism in the primer annealing region.
Gusmao L,Amorim A,Prata MJ,Pereira L,Lareu MV,Carracedo A,
Int J Legal Med.1996;108(6):313-315.

The STR system hTPO: population and segregation data.
Gusmao L,Prata MJ,Amorim A,
Int J Legal Med.1995;108(3):167-169.

Formal and population genetics of F13A and FUCA1 polymorphisms in northern Portugal.
Prata MJ,Amorim A,
Hum Hered.1990;40(1):45-48.

Genetic polymorphism of human peptidase C, PEPC (E.C.3.4.1.1): formal genetic and population data.
Kompf J,Prata MJ,Amorim A,
Hum Genet.1989;83(2):197-198.