A5114374456- Forensic and Genetic Research
- Genetic diversity and population structure
- Genomic variations and chromosomal abnormalities
- Genomics and Phylogenetic Studies
- Chromosomal and Genetic Variations
- Forensic Anthropology and Bioarchaeology Studies
- Oral microbiology and periodontitis research
- RNA and protein synthesis mechanisms
- Race, Genetics, and Society
- Oral Health Pathology and Treatment
- Blood Coagulation and Thrombosis Mechanisms
- HIV/AIDS oral health manifestations
- Salivary Gland Disorders and Functions
- Gut microbiota and health
- Archaeology and ancient environmental studies
- Trypanosoma species research and implications
- Lipoproteins and Cardiovascular Health
- Adipokines, Inflammation, and Metabolic Diseases
- Protease and Inhibitor Mechanisms
- Hemoglobinopathies and Related Disorders
- Molecular Biology Techniques and Applications
- Genetic and phenotypic traits in livestock
- Archaeology and Historical Studies
- Genomics and Rare Diseases
- Global Maritime and Colonial Histories
Universidade do Porto
2017-2023
Centro de Investigação em Biodiversidade e Recursos Genéticos
2016-2020
Universitat Autònoma de Barcelona
2014-2019
Barcelona Biomedical Research Park
2014
Universitat de Barcelona
2007-2012
Centre National de la Recherche Scientifique
2009-2012
Université de Toulouse
2009-2012
Université Toulouse III - Paul Sabatier
2011-2012
Abstract Objectives : We investigated the frequency distribution and haplotype diversity of human African trypanosomiasis (HAT) resistance lactase persistence (LP) variants in populations from Angolan Namib to trace spread these genetic adaptations into southwestern Africa. Materials Methods resequenced two fragments LCT enhancer APOL1 gene genotyped flanking short tandem repeat loci six groups with different subsistence traditions living Namib, a comparative dataset including other Africa...
Abstract Two Bolivian samples belonging to the two main Andean linguistic groups (Aymaras and Quechuas) were studied for mtDNA Y‐chromosome uniparental markers evaluate sex‐specific differences give new insights into demographic processes of region. mtDNA‐coding polymorphisms, HVI‐HVII control regions, 17 Y‐STRs, three SNPs typed in well‐defined populations with adequate size samples. The showed more genetic than Y‐chromosome. For mtDNA, 81% Aymaras 61% Quechuas presented haplogroup B2....
Abstract Inversions are one type of structural variants linked to phenotypic differences and adaptation in multiple organisms. However, there is still very little information about polymorphic inversions the human genome due difficulty their detection. Here, we develop a new high-throughput genotyping method based on probe hybridization amplification, perform complete study 45 common 0.1–415 kb. Most promoted by homologous recombination occur recurrently humans great apes they not tagged...
The Bantu expansion, which started in West Central Africa around 5,000 BP, constitutes a major migratory movement involving the joint spread of peoples and languages across sub-Saharan Africa. Despite rich linguistic archaeological evidence available, genetic relationships between different Bantu-speaking populations routes they followed during various phases expansion remain poorly understood. Here, we analyze profiles southwestern southeastern located at edges by generating genome-wide...
Type 2 diabetes mellitus (T2DM) is a chronic metabolic disease that becoming significant global health care problem. Several studies have shown people with are more susceptible to oral problems, such as periodontitis and, although the causes still inconclusive, microbiota considered play major role in health. This study aimed characterize microbiome of sample representing T2DM patients from Portugal and exploit potential associations between some microorganisms variables like teeth brushing,...
The recent increase in human polymorphism data, together with the availability of genome sequences from several primate species, provides an unprecedented opportunity to investigate how natural selection has shaped evolution. We compared branch-specific substitutions variation data current population measure impact adaptive evolution on protein coding genes. use single nucleotide polymorphisms (SNPs) high derived allele frequencies (DAFs) minimized influence segregating slightly deleterious...
Abstract The variation of 18 Alu polymorphisms and 3 linked STRs was determined in 1,831 individuals from 15 Mediterranean populations to analyze the relationships between human groups this geographical region provide a complementary perspective information studies based on uniparental markers. Patterns population diversity revealed by two kinds markers examined were different one another, likely relation their mutation rates. Therefore, while biallelic underlies general heterogeneity...
In recent years different types of structural variants (SVs) have been discovered in the human genome and their functional impact has become increasingly clear. Inversions, however, are poorly characterized more difficult to study, especially those mediated by inverted repeats or segmental duplications. Here, we describe results a simple fast inverse PCR (iPCR) protocol for high-throughput genotyping wide variety inversions using small amount DNA. particular, analyzed 22 predicted humans...
Despite the interest in characterizing genomic variation, presence of large repeats at breakpoints hinders analysis many structural variants. This is especially problematic for inversions, since there typically no gain or loss DNA. Here, we tested novel linkage-based droplet digital PCR (ddPCR) assays to study 20 inversions ranging from 3.1 742 kb flanked by inverted (IRs) up 134 long. Of those, validated 13 predicted different genome-wide techniques. In addition, obtained new experimental...
Despite many years of study into inversions, very little is known about their functional consequences, especially in humans. A common hypothesis that the selective value inversions stems part from effects on nearby genes, although evidence this natural populations almost nonexistent. Here we present a global analysis new 415-kb polymorphic inversion among longest ones found humans and first with clear position effects. This located chromosome 19 has been generated by non-homologous end...
Abstract Objectives Southern Angola is a poorly studied region, inhabited by populations that have been associated with different migratory movements into southern Africa. Apart from Kx'a‐speaking San foragers and Bantu‐speaking pastoralists, ethnographic linguistic studies suggested the existence of an enigmatic array pre‐Bantu communities, like Kwepe (formerly Khoe‐Kwadi speakers), Twa Kwisi. Here, we evaluate previous peopling hypotheses assessing relationships between Angolan...
While the human oral microbiome is known to play an important role in systemic health, its average composition and diversity patterns are still poorly understood. To gain better insights into general of on a global scale, characterization microbiomes from broad range populations, including non-industrialized societies, needed. Here, we used portion non-human reads obtained through expanded exome capture sequencing approach characterize saliva 52 individuals eight ethnolinguistically diverse...
The growing catalogue of structural variants in humans often overlooks inversions as one the most difficult types variation to study, even though they affect phenotypic traits diverse organisms. Here, we have analysed detail 90 predicted from comparison two independently assembled human genomes: reference genome (NCBI36/HG18) and HuRef. Surprisingly, found that thirds these predictions (62) represent errors either assembly or assemblies, including 27 misassembled regions HG18. Next,...
Thirty-two polymorphic Alu insertions (18 autosomal and 14 from the X chromosome) were studied in 192 individuals two Amerindian populations of Bolivian Altiplano (Aymara Quechua speakers: main Andean linguistic groups), to provide relevant information about their genetic relationships demographic processes. The objective was determine data whether expansion language into Bolivia could be associated with (Inca migration Quechua-speakers Peru Bolivia) or cultural (language imposition by Inca...
Summary The APOE/C1/C4/C2 gene cluster presents high relevance in lipid metabolism and, therefore, has important epidemiological implications. Here, we study for the first time variation patterns of 25 polymorphisms (10 short tandem repeats, STRs, and 15 single nucleotide polymorphismas, SNPs) two native Andean samples from Bolivia (45 Aymaras 45 Quechuas) as well one European sample (n = 41) external reference. We estimated diversity parameters, linkage disequilibrium patterns, population...
The forced migration of millions Africans during the Atlantic Slave Trade led to emergence new genetic and linguistic identities, thereby providing a unique opportunity study mechanisms giving rise human biological cultural variation. Here we focus on archipelago São Tomé Príncipe in Gulf Guinea, which hosted one earliest plantation societies relying exclusively slave labor. We analyze variation 25 individuals from three communities who speak distinct creole languages (Forros, Principenses...
Summary Immoderate blood clotting constitutes a risk factor for cardiovascular disease in modern industrialised societies, but is believed to have conferred survival advantage, i.e. faster recovery from bleeding, on our ancestors. Here, we investigate the evolutionary history of Coagulation Factor VII gene (F7) by analysing five cardiovascular‐risk‐associated mutations F7 promoter and nine neutral polymorphisms (six SNPs three microsatellites) flanking region 16 populations broader...
ABSTRACT Southern Angola is a poorly studied region, inhabited by populations that have been associated with different migratory movements into southern Africa. Besides the long-standing presence of indigenous Kx’a-speaking foragers and more recent arrival Bantu-speaking pastoralists, ethnographic linguistic studies suggested other pre-Bantu communities were also present in Namib desert, including peripatetic groups like Kwepe (formerly Kwadi speakers), Twa Kwisi. Here we evaluate previous...
Abstract The Bantu expansion, which started in West Central Africa around 5,000 BP, constitutes a major migratory movement involving the joint spread of peoples and languages across sub-Saharan Africa. Despite rich linguistic archaeological evidence available, genetic relationships between different Bantu-speaking populations routes they followed during various phases expansion remain poorly understood. Here, we analyze profiles southwestern southeastern located at edges by generating...
Abstract The Sephardim are a major Jewish ethnic division whose origins can be traced back to the Iberian Peninsula. We used genome-wide SNP data investigate degree of Sephardic admixture in seven populations from Peninsula and surrounding regions aftermath their religious persecution starting late 14 th century. To this end, we Eastern Mediterranean (from South Italy, Greece Israel) North African (Tunisian Moroccan) as proxies for ancestral components found target carried out unlinked-...
SUMMARY Inversions are one type of structural variants linked to phenotypic differences and adaptation in multiple organisms. However, there is still very little information about inversions the human genome due difficulty their detection. Here, thanks development a new high-throughput genotyping method, we have performed complete study representative set 45 common polymorphic inversions. Most promoted by homologous recombination occur recurrently both humans great apes and, since they not...
Abstract Type 2 diabetes mellitus (T2DM) is a chronic metabolic disease that becoming significant global health care problem. Several studies have shown people with are more susceptible to oral problems, such as periodontitis and, although the causes still inconclusive, microbiota seems be an important factor in this interaction. This study aimed characterize microbiome of sample representing T2DM patients from Portugal and exploit potential associations between some microorganisms variables...