A5084729690- Forensic and Genetic Research
- Comparative Literary Analysis and Criticism
- Forensic Anthropology and Bioarchaeology Studies
- melanin and skin pigmentation
- Spanish Literature and Culture Studies
- Social Sciences and Policies
- Archaeological and Historical Studies
- Skin Protection and Aging
- Molecular Biology Techniques and Applications
- Spanish Culture and Identity
- Genetic diversity and population structure
- Literary and Cultural Studies
- Biochemical Analysis and Sensing Techniques
- Pleistocene-Era Hominins and Archaeology
- Early Modern Spanish Literature
- vaccines and immunoinformatics approaches
- Archaeological and Geological Studies
- Yersinia bacterium, plague, ectoparasites research
- Archaeology and ancient environmental studies
- Cinema History and Criticism
- Immunotherapy and Immune Responses
- Latin American Literature Analysis
- Paleopathology and ancient diseases
- Nutrition, Genetics, and Disease
- Cutaneous Melanoma Detection and Management
MD Anderson Cancer Center Madrid
2024
University of the Basque Country
2013-2023
BioCruces Health research Institute
2023
Fundación Biofísica Bizkaia
2022
University of Nottingham
1998-2004
Queen's Medical Centre
1998-2000
University of Utah
2000
Euskadiko Parke Teknologikoa
1996
Infectious diseases exert a constant evolutionary pressure on the genetic makeup of our innate immune system. Polymorphisms in Toll-like receptor 4 (TLR4) have been related to susceptibility Gram-negative infections and septic shock. Here we show that two polymorphisms TLR4, Asp299Gly Thr399Ile, unique distributions populations from Africa, Asia, Europe. Genetic functional studies are compatible with model which nonsynonymous polymorphism has evolved as protective allele against malaria,...
Genetic variation within the male-specific portion of Y chromosome (MSY) can clarify origins contemporary populations, but previous studies were hampered by partial genetic information. Population sequencing 1204 Sardinian males identified 11,763 MSY single-nucleotide polymorphisms, 6751 which have not previously been observed. We constructed a phylogenetic tree containing all main haplogroups found in Europe, along with many Sardinian-specific lineage clusters each haplogroup. The was...
The phenomenon of Neolithisation refers to the transition prehistoric populations from a hunter-gatherer an agro-pastoralist lifestyle. Traditionally, spread economy into Europe has been framed within dichotomy based either on acculturation or demic diffusion. However, nature and speed this is matter continuing scientific debate in archaeology, anthropology, human population genetics. In present study, we have analyzed mitochondrial DNA diversity hunter-gatherers first farmers Northern...
Significance This article gives a unique perspective on the impact of evolution immune system under pressure by infections, using special demographic history Europe in which two populations with different genetic ancestry, Europeans and Rroma (Gypsies), have lived same geographic area been exposed to similar environmental hazards, including infections. We identified convergent signals genes from human populations. Reconstruction evolutionary European has Toll-like receptor 1...
Although the combination of pale skin and intense sun exposure results in an important health risk for individual, it is less clear if at population level this has possessed evolutionary meaning. In sense, a number adaptive hypotheses have been put forward to explain evolution human pigmentation, such as photoprotection against sun-induced cancer, sexual selection, vitamin D synthesis or photolabile compounds, among others. It expected that pigmentation adaptive, we might be able see...
Adequate responses by our innate immune system toward invading pathogens were of vital importance for surviving infections, especially before the antibiotic era. Recently, a polymorphism in Mal (Ser180Leu, TIRAP rs8177374), an important adaptor protein downstream Toll-like receptor (TLR) 2 and 4 pathways, has been described to provide protection against broad range infectious pathogens. We assessed functional effects this human experimental endotoxemia, we demonstrate that individuals...
The importance of the process Neolithization for genetic make-up European populations has been hotly debated, with shifting hypotheses from a demic diffusion (DD) to cultural (CD) model. In this regard, ancient DNA data Balkan Peninsula, which is an important source information assess in Europe, however missing. present study we show on South-East Europe. We assessed mtDNA ten sites current territory Romania, spanning time-period Early Neolithic Late Bronze Age. farmers Starčevo Criş culture...
This study set out to assess the performance of an artificial intelligence (AI) algorithm based on clinical data and dermatoscopic imaging for early diagnosis melanoma, its capacity define metastatic progression melanoma through serological histopathological biomarkers, enabling dermatologists make more informed decisions about patient management. Integrated analysis demographic data, images skin lesions, serum markers were analyzed in a group 196 patients with melanoma. The interleukins...
We have sequenced a highly polymorphic subterminal noncoding region from human chromosome 16p13.3, flanking the 5′ end of hypervariable minisatellite MS205, in 100 chromosomes sampled different African and Euroasiatic populations. Coalescence analysis indicates that time to most recent common ancestor (approximately 1 million years) predates appearance anatomically modern forms. The root network describing this variability lies Africa. populations show greater level diversity deeper...
Abstract We analyzed the hypervariable region I (HVR‐I) sequence variability of mitochondrial DNA (mtDNA) individuals buried at Aldaieta (6th–7th centuries AD) in order to find out more about biosocial implications this cemetery. The results, fully authenticated by means diverse criteria (analysis duplicates, replication an independent laboratory, quantification target DNA, and sequencing cloning polymerase chain reaction products), suggest that largely consists autochthonous who shared...
We investigate the contribution of overdominance to maintenance polymorphism in human genome during recent evolution our species. Using HapMap genotypic information, we have detected that Gene Ontology term "olfactory receptor activity" is a molecular function overrepresented genes SNPs (Single Nucleotide Polymorphisms) showing higher than expected number heterozygotes populations. Our results suggest diversity subset olfactory receptors (ORs) may been maintained by balancing selection, form...
The observed correlation between ultraviolet light incidence and skin color, together with the geographical apportionment of reflectance among human populations, suggests an adaptive value for pigmentation skin. We have used Affymetrix U133a v2.0 gene expression microarrays to investigate profiles a total 9 melanocyte cell lines (5 from lightly pigmented donors 4 darkly donors) plus their respective unirradiated controls. In order reveal signatures selection in loci bearing on humans, we...
The remarkable progress in characterizing the human genome sequence, exemplified by Human Genome Project and HapMap Consortium, has led to perception that knowledge tools (e.g., microarrays) are sufficient for many if not most biomedical research efforts. A large amount of data from diverse studies proves this inaccurate at best, worst, an impediment further efforts characterize variation genome. Because genotype environment fundamental basis understand phenotypic variability heritability...
Human pigmentation is a polygenic quantitative trait with high heritability. In addition to genetic factors, it has been shown that can be modulated by oestrogens and androgens via up- or down-regulation of melanin synthesis. Our aim was identify possible sex differences in phenotype as well melanoma association case-control population Spanish origin.Five hundred ninety-nine females (316 cases 283 controls) 458 males (234 224 were analysed. We genotyped 363 polymorphisms (single nucleotide...
Abstract Skin pigmentation is a complex trait that varies largely among populations. Most genome-wide association studies of this have been performed in Europeans and Asians. We aimed to uncover genes influencing skin colour African-admixed individuals. study melanin levels 285 Hispanic/Latino individuals from Puerto Rico, analyzing 14 million genetic variants. A total 82 variants with p -value ≤1 × 10 −5 were followed up 373 African Americans. Fourteen single nucleotide polymorphisms...
Abstract After the dispersal of modern humans ( Homo sapiens ) Out Africa , hominins with a similar morphology to that present-day initiated gradual demographic expansion into Eurasia. The mitogenome (33-fold coverage) Peştera Muierii 1 individual (PM1) from Romania (35 ky cal BP) we present in this article corresponds fully whilst exhibiting mosaic morphological features related both and Neandertals. We have identified PM1 as basal haplogroup U6*, not previously found any ancient or humans....
Despite the genetic resemblance of Canary Islanders to other southern European populations, their geographical isolation and historical admixture aborigines (from North Africa) with sub-Saharan Africans Europeans have shaped a distinctive makeup that likely affects disease susceptibility health disparities. Based on single nucleotide polymorphism array data whole genome sequencing (30×), we inferred last African took place ∼14 generations ago estimated up 34% Islander is recent descent. The...
In humans, the geographical apportionment of coding diversity pigmentary locus melanocortin-1 receptor (MC1R) is, unusually, higher in Eurasians than Africans. This atypical observation has been interpreted as result purifying selection due to functional constraint on MC1R high UV-B radiation environments. By analyzing 3,142 human alleles from different regions Spain context additional haplotypic information 1000 Genomes (1000G) Project data, we show that is also strong southern Europe, but...
We aimed to study the selective pressures interacting on SLC45A2 investigate interplay between selection and susceptibility disease. Thus, we enrolled 500 volunteers from a geographically limited population (Basques North of Spain) by resequencing whole coding region intron 5 34 most least pigmented individuals according reflectance distribution, observed that polymorphism Leu374Phe (L374F, rs16891982) was statistically associated with skin color variability within this sample. In...
Summary The Basque population has been considered an outlier in a large number of genetic studies, due to its hypothesized antiquity and greater isolation. present paper deals with analysis the mtDNA variability historical Aldaieta (VI–VII c. AD; Country) which, together data existing for other prehistoric populations Country (4,500–5,000 YBP), permits appraisal hypotheses proposed origin differentiation population. Given that this is aDNA study, application made both standard precautions,...
Summary Background/Purpose The response to the damage provoked by exposure UV radiation is mediated melanocytes and a network of paracrine factors produced keratinocytes, it varies among individuals different geographical origin skin colour. mechanisms underlying this differential response, however, have not been completely elucidated. Methods We characterized behaviour (proliferation differentiation/melanogenesis) from both dark‐ light‐skinned in ultraviolet B ( UVB ) irradiation, cultured...