creating a
healthier future

Population Genetics & Evolution


We aim at understanding the origin, evolution and consequences of genetic diversity, using a variety of model systems and approaches under the perspective of population genetics theory.

The development of tools for the identification of variants and their interactions contributing to the aetiology of, or the susceptibility to, genetic or infectious diseases is a main theme of research, in order to develop efficient screenings and diagnostics, and to identify individuals at high risk of developing a disease, improving genetic counselling and treatment, including the study of the genetic variation in the response to xenobiotics and pharmacogenetics.

The role of coding and non-coding sequences in gene expression regulation and the impact of structural genomic variation on fertility and disease susceptibility, is investigated by two strategic approaches: an evo-devo line based on the evolutionary comparison of specific genomic regions and their expression patterns in ontogeny, and genome wide methods.

Besides health an applied line of research is related to forensics and quality control issues through the development of methods, techniques, and the design of exercises, recommendations and guidelines.

The research strategy described for humans is also applied to the history, conservation and management of domesticates and laboratory animals, identification and diagnostic tools and food quality.

The Group is also devoted to the mathematical modelling of generalized kinship relations, automated DNA sequence analyses and to the history, migration and substructure of metapopulations.



CAG instability in Machado-Joseph disease

SCA2 repeats and ALS risk

Erythrocyte enzymes and malaria resistance

Hospital dispersion of A. fumigatus; mutations in antifungals resistance

Individual cancer risks and drug dosage

Epigenetic and genetic 2nd hits in gastric cancer

Pathogenic mutations origins and mechanisms

Epistasis in respiratory and Golgi complexes

Selection at  mtDNA secondary structure and deletions associated with non-B conformations

Evolution and diversification of gene families

Overlapping genes: evolution of splicing and polyA signals

Software for analysis and classification of mtDNAs

Assessment of ancestry and interethnic admixture

Human fertility increases with marital radius

Y chr.  genes essential for spermiogenesis

Transcriptional changes in a Turner mouse model; clustering of inactivation escapees

Derivation of the sets of pedigrees with same IBD and generalization to X-chr.

PCR method and software for species and breed identification in food or degraded samples

Neandertal X-chr. haplotype in all non-African populations

History of the Roma and pathogenic mutational spectrum 


Looking at genomes, gene sequences, and protein structures is paramount to understand the molecular basis of phenotypic variation.


Selected Publications

Machado H., Granja R., Amorim A.,
Ethical challenges of merging criminal identification and civil identification within the Prüm system. Forensic Science International: Genetics57:, 2022. [Journal: Article] [CI: 1] [IF: 3,1]
DOI: 10.1016/j.fsigen.2022.102660 SCOPUS: 85122636409

Quelhas D., Carneiro J., Lopes-Marques M., Jaeken J., Martins E., Rocha J.F., Teixeira Carla S.S., Ferreira C.R., Sousa S.F., Azevedo L.,
Assessing the effects of PMM2 variants on protein stability. Molecular Genetics and Metabolism134(4):344-352, 2021. [Journal: Article] [CI: 2] [IF: 4,2]
DOI: 10.1016/j.ymgme.2021.11.002 SCOPUS: 85120504535

Monteiro B., Arenas M., Prata M.J., Amorim A.,
Evolutionary dynamics of the human pseudoautosomal regions. PLoS Genetics17(4 April 2021):, 2021. [Journal: Article] [CI: 12] [IF: 6]
DOI: 10.1371/journal.pgen.1009532 SCOPUS: 85104970304

Lopes-Marques M., Pacheco A.R., Peixoto M.J., Cardoso A.R., Serrano C., Amorim A., Prata M.J., Cooper D.N., Azevedo L.,
Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity. Human Mutation42(8):978-989, 2021. [Journal: Article] [CI: 4] [IF: 4,7]
DOI: 10.1002/humu.24221 SCOPUS: 85107027486

Maturana-Candelas A., Gómez C., Poza J., Rodríguez-González V., Pablo V.G.d., Lopes A.M., Pinto N., Hornero R.,
Influence of PICALM and CLU risk variants on beta EEG activity in Alzheimer’s disease patients. Scientific Reports11(1):, 2021. [Journal: Article] [CI: 4] [IF: 5]
DOI: 10.1038/s41598-021-99589-y SCOPUS: 85117406221

Elkamel S., Marques S.L., Alvarez L., Gomes V., Boussetta S., Mourali-Chebil S., Khodjet-El-Khil H., Cherni L., Benammar-Elgaaied A., Prata M.J.,
Insights into the Middle Eastern paternal genetic pool in Tunisia: high prevalence of T-M70 haplogroup in an Arab population. Scientific Reports11(1):, 2021. [Journal: Article] [CI: 1] [IF: 5]
DOI: 10.1038/s41598-021-95144-x SCOPUS: 85111995877

Akçimen F., Martins S., Liao C., Bourassa C.V., Catoire H., Nicholson G.A., Riess O., Raposo M., França M.C., Vasconcelos J., Lima M., Lopes-Cendes I., Saraiva-Pereira M.L., Jardim L.B., Sequeiros J., Dion P.A., Rouleau G.A.,
Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease. Aging12(6):4742-4756, 2020. [Journal: Article] [CI: 11] [IF: 5,7]
DOI: 10.18632/aging.102825 SCOPUS: 85083041907

Pinto N., Pereira V., Tomas C., Loiola S., Carvalho E.F., Modesti N., Maxzud M., Marcucci V., Cano H., Cicarelli R., Januario B., Bento A., Brito P., Burgos G., Paz-Cruz E., Díez-Juárez L., Vannelli S., Pontes M.d.L., Berardi G., Furfuro S., Fernandez A., Sumita D., Bobillo C., García M.G., Gusmão L.,
Paternal and maternal mutations in X-STRs: A GHEP-ISFG collaborative study. Forensic Science International: Genetics46:, 2020. [Journal: Article] [CI: 9] [IF: 4,9]
DOI: 10.1016/j.fsigen.2020.102258 SCOPUS: 85079290007

Ferragut J.F., Ramon C., Castro J.A., Amorim A., Alvarez L., Picornell A.,
Middle eastern genetic legacy in the paternal and maternal gene pools of Chuetas. Scientific Reports10(1):, 2020. [Journal: Article] [CI: 1] [IF: 4,4]
DOI: 10.1038/s41598-020-78487-9 SCOPUS: 85097306150

Arenas M., Gorostiza A., Baquero J.M., Campoy E., Branco C., Rangel-Villalobos H., González-Martín A.,
The Early Peopling of the Philippines based on mtDNA. Scientific Reports10(1):, 2020. [Journal: Article] [CI: 14] [IF: 4,4]
DOI: 10.1038/s41598-020-61793-7 SCOPUS: 85082002878

Ongoing Projects

A multimodal approach for deepening the understanding of Alzheimer’s disease
Reference: 2022.04734.PTDC
Proponent: Instituto de Investigação e Inovação em Saúde - Universidade do Porto
Sponsor: FCT - Fundação para a Ciência e a Tecnologia
From 01-MAR-23 to 28-FEB-26
Evolution and functional activity of gene paralogues in spinocerebellar ataxias
Reference: 2022.04896.PTDC
Proponent: Instituto de Investigação e Inovação em Saúde - Universidade do Porto
Sponsor: FCT - Fundação para a Ciência e a Tecnologia
From 12-MAR-23 to 11-MAR-25