High prevalence of HBV/A1 subgenotype in native south Americans may be explained by recent economic developments in the Amazon.
Infection, Genetics and Evolution 43:354 (2016)
The role of natural selection in human evolution - insights from Latin America.
Genetics and Molecular Biology 0:0 (2016)
A brief introduction considering Darwin's work, the evolutionary synthesis, and the scientific biological field around the 1970s and subsequently, with the molecular revolution, was followed by selected examples of recent investigations dealing with the selection-drift controversy. The studies s...
A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features.
Nature Communications 7:10815 (2016)
We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial hair (beard thickness, monobrow, eyebrow thickness). We found 18 signals of association reaching genome-wide significance (P values 5 × 10(-8) to 3 × 10(...
A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation.
Nature Communications 7:11616 (2016)
We report a genome-wide association scan for facial features in ∼6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values<5 × 10(-8)) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella in...
Origins and evolvability of the PAX family.
Seminars in Cell & Developmental Biology 44:64 (2015)
The paired box (PAX) family of transcription/developmental genes plays a key role in numerous stages of embryonic development, as well as in adult organogenesis. There is evidence linking the acquisition of a paired-like DNA binding domain (PD) to domestication of a Tc1/mariner transposon. Furth...
Bioethics, population studies, and geneticophobia.
Journal of Community Genetics 6(3):197 (2015)
In any research of human populations, the classical principles of bioethics (respect for autonomy, non-maleficence, beneficence, proportionality between risks and benefits, and justice) should be strictly followed. The question of individual and/or community rights should also be considered, as ...
Population Genetics of Jaguars (Panthera onca) in the Brazilian Pantanal: Molecular Evidence for Demographic Connectivity on a Regional Scale.
Journal of Heredity 106 Suppl 1:503 (2015)
Habitat loss and fragmentation are important threats to carnivores worldwide, and can be especially intense for large predators. Jaguars have already been extirpated from over half of their original area of distribution, and few regions still maintain large populations. For these, detailed under...
High interpopulation homogeneity in Central Argentina as assessed by Ancestry Informative Markers (AIMs).
Genetics and Molecular Biology 38(3):324 (2015)
The population of Argentina has already been studied with regard to several genetic markers, but much more data are needed for the appropriate definition of its genetic profile. This study aimed at investigating the admixture patterns and genetic structure in Central Argentina, using biparental ...
Differing evolutionary histories of the ACTN3*R577X polymorphism among the major human geographic groups.
PLoS ONE 10(2):e0115449 (2015)
It has been proposed that the functional ACTN3*R577X polymorphism might have evolved due to selection in Eurasian human populations. To test this possibility we surveyed all available population-based data for this polymorphism and performed a comprehensive evolutionary analysis of its genetic d...
Detection of convergent genome-wide signals of adaptation to tropical forests in humans.
PLoS ONE 10(4):e0121557 (2015)
Tropical forests are believed to be very harsh environments for human life. It is unclear whether human beings would have ever subsisted in those environments without external resources. It is therefore possible that humans have developed recent biological adaptations in response to specific sel...
A genome-wide association study identifies multiple loci for variation in human ear morphology.
Nature Communications 6:7500 (2015)
Here we report a genome-wide association study for non-pathological pinna morphology in over 5,000 Latin Americans. We find genome-wide significant association at seven genomic regions affecting: lobe size and attachment, folding of antihelix, helix rolling, ear protrusion and antitragus size (l...
Admixture in Latin America: geographic structure, phenotypic diversity and self-perception of ancestry based on 7,342 individuals.
PLoS Genetics 10(9):e1004572 (2014)
The current genetic makeup of Latin America has been shaped by a history of extensive admixture between Africans, Europeans and Native Americans, a process taking place within the context of extensive geographic and social stratification. We estimated individual ancestry proportions in a sample ...
Factor VIII mutations and inhibitor formation in a southern Brazilian population.
Blood Coagulation and Fibrinolysis 25(2):125 (2014)
A total of 110 patients with severe (n = 43), moderate (n = 15) or mild (n = 52) haemophilia A were studied in relation to their F8 gene mutation and inhibitor status. Nineteen percentage of them had anti-factor VIII antibodies. Significant heterogeneity in inhibitor prevalence considering the l...
FGFR1 signaling is associated with the magnitude of morphological integration in human head shape.
American Journal of Human Biology 26(2):164 (2014)
The head can be used as a model to study complex phenotypes controlled simultaneously by morphological integration (MI) due to common factors, and modular patterns caused by local factors affecting the development and functional demands of specific structures. The fibroblast growth factor and re...
MSX1 and PAX9 investigation in monozygotic twins with variable expression of tooth agenesis.
Twin Research and Human Genetics 16(6):1112 (2013)
Non-syndromic agenesis of permanent teeth is one of the most common anomalies in human development, a multifactorial characteristic caused by genetic and environmental factors. We describe a pair of monozygotic twins who showed second premolar and third molar agenesis, albeit with different expr...
Brief communication: 5-HTTLPR genetic diversity and mode of subsistence in Native Americans.
American Journal of Physical Anthropology 151(3):492 (2013)
The relationship between the "individualism-collectivism" and the serotonin transporter functional polymorphism (5-HTTLPR), suggested in the previous reports, was tested in Native South Amerindian populations. A total of 170 individuals from 21 populations were genotyped for the 5-HTTLPR alleles...
Demographic expansions in South America: enlightening a complex scenario with genetic and linguistic data.
American Journal of Physical Anthropology 150(3):453 (2013)
Native Americans are characterized by specific and unique patterns of genetic and cultural/linguistic diversities, and this information has been used to understand patterns of geographic dispersion, and the relationship between these peoples. Particularly interesting are the Tupi and Je speaker ...
Genetic changes in severe haemophilia A: new contribution to the aetiology of a complex disease.
Blood Coagulation and Fibrinolysis 24(2):164 (2013)
Haemophilia A is an X-linked bleeding disorder caused by reduced or absent clotting factor VIII (FVIII) activity, determined by heterogeneous mutations in the F8 gene. Identification of these pathogenic mutations is important for genetic counseling and the assessment of clinical manifestations. ...
Lack of support for the association between facial shape and aggression: a reappraisal based on a worldwide population genetics perspective.
PLoS ONE 8(1):e52317 (2013)
Antisocial and criminal behaviors are multifactorial traits whose interpretation relies on multiple disciplines. Since these interpretations may have social, moral and legal implications, a constant review of the evidence is necessary before any scientific claim is considered as truth. A recent ...
Fibroblast growth factor receptor 1 (FGFR1) variants and craniofacial variation in Amerindians and related populations.
American Journal of Human Biology 25(1):12 (2013)
The polymorphic site rs4647905 of the FGFR1 gene was previously associated with a decrease in cephalic index (CI). Here, we evaluate the relationships between genotypes and cephalometric measurements and indices in one Mexican Native and two mestizo Mexican populations using two haplotype-tag SN...