Ipatimup

RESEARCHDIAGNOSTICSTRANSLATIONOUTREACH

Maria Prata

Name: Maria Prata

E-mail: mprata@ipatimup.pt

Maria Prata

Member of

Consultant of Ipatimup Diagnostics

Researcher of Population Genetics

Short CV

1980 - Degree in Biology; Faculty of Sciences, University of Porto
1991 - PhD in Human Genetics; Faculty of Sciences, University of Porto
since 2009 - Associate Professor with Aggregation; Biology Department, Faculty of Sciences, University of Porto
since 1997 – senior researcher at Ipatimup

Highlights

1. Applying molecular genetic approaches to reconstruct the history of populations.

2. Fine patterns of genetic diversity in the Portuguese: inferring demographic and evolutionary factors acting on different timescales underlying the genetic landscape that currently characterizes Portugal.

3. Clinical Applications of Pharmacogenetics: thiopurine S-methyltransferase (TPMT) as a model.

4. Lifestyle and dietary adaptations in African populations: insights from patterns of genetic diversity

5. Gene functions and biological pathways in health and disease: insights from the molecular analysis of the rare Mendelian disorder, maple syrup urine disease (MSUD)

PI (closed)

The Portuguese gypsy community:demographic history assessed through patterns of genetic diversity

Deciphering the origin of foci of high prevalence of hereditary anemias in Portugal: epidemiological and evolutionary study

Registo da Deficiência Genética da Metabolização de Tiopurinas na População Portuguesa e Prevenção Toxidade em Terapêuticas Citostáticas

First Author

1. Prata MJ, Miranda C, Rocha J, Amorim A

Allelic affinities between the F13A common gene products inferred by the analysis of an (AAAG)n STR polymorphism within the 5' untranslated region. Human heredity 50: 189-93, 2000. [Article]

PMID: 10686499.

1.8

Senior Author

1. Manco L, Santos R, Rocha C, Relvas L, Bento C, Maia T, Gomes V, Amorim A, Prata MJ

Hb F Levels in ß-Thalassemia Carriers and Normal Individuals: Known and Unknown Quantitative Trait Loci in the ß-Globin Gene Cluster. Hemoglobin 46: 168-175, 2022. [Article]

doi: 10.1080/03630269.2022.2070498 PMID: 35635444.

2. Elkamel S, Marques SL, Alvarez L, Gomes V, Boussetta S, Mourali-Chebil S, Khodjet-El-Khil H, Cherni L, Benammar-Elgaaied A, Prata MJ

Insights into the Middle Eastern paternal genetic pool in Tunisia: high prevalence of T-M70 haplogroup in an Arab population. Scientific reports 11: 15728, 2021. [Article]

doi: 10.1038/s41598-021-95144-x PMID: 34344940.

4.4 (*)

3. Lopes-Marques M, Serrano C, Cardoso AR, Salazar R, Seixas S, Amorim A, Azevedo L, Prata MJ

GBA3: a polymorphic pseudogene in humans that experienced repeated gene loss during mammalian evolution. Scientific reports 10: 11565, 2020. [Article]

doi: 10.1038/s41598-020-68106-y PMID: 32665690.

4.0 (*)

4. Valente C, Alvarez L, Marques PI, Gusmão L, Amorim A, Seixas S, João Prata M

Genes from the TAS1R and TAS2R Families of Taste Receptors: Looking for Signatures of Their Adaptive Role in Human Evolution. Genome biology and evolution 10: 1139-1152, 2018. [Article]

doi: 10.1093/gbe/evy071 PMID: 29635333.

3.9 (*)

5. Manco L, Albuquerque J, Sousa MF, Martiniano R, de Oliveira RC, Marques S, Gomes V, Amorim A, Alvarez L, Prata MJ

The Eastern side of the Westernmost Europeans: Insights from subclades within Y-chromosome haplogroup J-M304. American journal of human biology : the official journal of the Human Biology Council 30: ., 2018. [Article]

doi: 10.1002/ajhb.23082 PMID: 29193490.

1.6 (*)

6. Valente C, Alvarez L, Marks SJ, Lopez-Parra AM, Parson W, Oosthuizen O, Oosthuizen E, Amorim A, Capelli C, Arroyo-Pardo E, Gusmão L, Prata MJ

Exploring the relationship between lifestyles, diets and genetic adaptations in humans. BMC genetics 16: 55, 2015. [Article]

doi: 10.1186/s12863-015-0212-1 PMID: 26018448.

2.2

7. Pinto JC, Pereira V, Marques SL, Amorim A, Alvarez L, Prata MJ

Mirandese language and genetic differentiation in Iberia: a study using X chromosome markers. Annals of human biology 42: 20-5, 2015. [Article]

doi: 10.3109/03014460.2014.944215 PMID: 25117606.

1.6

8. Alexandre JG, Huang Q, Marques SL, Lopez-Parra AM, Arroyo-Pardo E, Amorim A, Alvarez L, Prata MJ

Enriching the knowledge on East Asia populations: Characterization of male lineages from Macau and Shanghai Forensic science international. Genetics Supplement Series 5: E322-E324, 2015. [Article]

doi: 10.1016/j.fsigss.2015.09.128.

9. Pereira V, Gusmão L, Valente C, Pereira R, Carneiro J, Gomes I, Morling N, Amorim A, João Prata M

Refining the genetic portrait of Portuguese Roma through X-chromosomal markers. American journal of physical anthropology 148: 389-94, 2012. [Article]

doi: 10.1002/ajpa.22061 PMID: 22576185.

2.5

10. Pereira V, Tomas C, Amorim A, Morling N, Gusmão L, Prata MJ

Study of 25 X-chromosome SNPs in the Portuguese. Forensic science international. Genetics 5: 336-8, 2011. [Article]

doi: 10.1016/j.fsigen.2010.10.004 PMID: 21036684.

3.1

11. Quental S, Gusmão A, Rodríguez-Pombo P, Ugarte M, Vilarinho L, Amorim A, Prata MJ

Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene. Annals of human genetics 73: 298-303, 2009. [Article]

doi: 10.1111/j.1469-1809.2009.00518.x PMID: 19456321.

2.1

12. Oliveira E, Pereira R, Amorim A, McLeod H, Prata MJ

Patterns of pharmacogenetic diversity in African populations: role of ancient and recent history. Pharmacogenomics 10: 1413-22, 2009. [Article]

doi: 10.2217/pgs.09.74 PMID: 19761365.

3.9

13. Gusmão A, Gusmão L, Gomes V, Alves C, Calafell F, Amorim A, Prata MJ

A perspective on the history of the Iberian gypsies provided by phylogeographic analysis of Y-chromosome lineages. Annals of human genetics 72: 215-27, 2008. [Article]

doi: 10.1111/j.1469-1809.2007.00421.x PMID: 18205888.

2.2

14. Quental S, Macedo-Ribeiro S, Matos R, Vilarinho L, Martins E, Teles EL, Rodrigues E, Diogo L, Garcia P, Eusébio F, Gaspar A, Sequeira S, Furtado F, Lança I, Amorim A, Prata MJ

Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community. Molecular genetics and metabolism 94: 148-56, 2008. [Article]

doi: 10.1016/j.ymgme.2008.02.008 PMID: 18378174.

2.6

15. Quental S, Martins E, Vilarinho L, Amorim A, João Prata M

Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination. Journal of inherited metabolic disease 31 Suppl 2: 457-60, 2008. [Article]

doi: 10.1007/s10545-008-1046-z PMID: 19085071.

2.7

16. Oliveira E, Quental S, Alves S, Amorim A, Prata MJ

Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and Mozambique. European journal of clinical pharmacology 63: 703-6, 2007. [Article]

doi: 10.1007/s00228-007-0310-8 PMID: 17473918.

2.2

17. Ouerhani S, Oliveira E, Marrakchi R, Ben Slama MR, Sfaxi M, Ayed M, Chebil M, Amorim A, El Gaaied AB, Prata MJ