Browsing by Author "Bertranpetit, Jaume, 1952-"

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  • Cosmic phylogeny: reconstructing the chemical history of the solar neighbourhood with an evolutionary tree
    Jofré, Paula; Das, Payel; Bertranpetit, Jaume, 1952-; Foley, Robert (Oxford University Press, 2017)
    Using 17 chemical elements as a proxy for stellar DNA, we present a full phylogenetic study of stars in the solar neighbourhood. This entails applying a clustering technique that is widely used in molecular biology to ...
  • Decay of linkage disequilibrium within genes across HGDP-CEPH human samples: most population isolates do not show increased LD
    Bosch Fusté, Elena; Laayouni, Hafid, 1968-; Morcillo Suárez, Carlos, 1969-; Casals López, Ferran; Moreno Estrada, Andrés; Ferrer Admetlla, Anna; Gardner, Michelle; Rosa, Araceli; Comas, David, 1969-; Graffelman, Jan; Calafell i Majó, Francesc; Bertranpetit, Jaume, 1952- (BioMed Central, 2009)
    Background: It is well known that the pattern of linkage disequilibrium varies between human populations, with remarkable geographical stratification. Indirect association studies routinely exploit linkage disequilibrium ...
  • Detection and classification of positive selection in human populations
    Pybus Oliveras, Marc, 1985- (Universitat Pompeu Fabra, 2016-05-27)
    Detecting positive selection in genomic regions is a recurrent topic in human population genetics studies. Over the years, many positive selection tests have been implemented to highlight specific genomic patterns left by ...
  • Distribution of events of positive selection and population differentiation in a metabolic pathway: the case of asparagine N-glycosylation
    Dall'Olio, Giovanni Marco, 1983-; Laayouni, Hafid, 1968-; Luisi, Pierre, 1985-; Sikora, Martin, 1976-; Montanucci, Ludovica, 1978-; Bertranpetit, Jaume, 1952- (BioMed Central, 2012)
    Asparagine N-Glycosylation is one of the most important forms of protein post-translational modification in eukaryotes. This metabolic pathway can be subdivided into two parts: an upstream sub-pathway required for achieving ...
  • Diversitat genòmica a les poblacions del Nord d'Àfrica
    Bosch Fusté, Elena (Universitat Pompeu Fabra, 2011-04-12)
    S'ha estudiat la variabilitat genètica de les poblacions del nord d'Àfrica a partir de l'anàlisi de diverses regions genòmiques per tal d'entendre les poblacions analitzades d'una banda, i comprendre la dinàmica del genoma ...
  • Dynamic sensitivity and nonlinear interactions influence the system-level evolutionary patterns of phototransduction proteins
    Invergo, Brandon M., 1982-; Montanucci, Ludovica, 1978-; Bertranpetit, Jaume, 1952- (Royal Society, 2015)
    Determining the influence of complex, molecular-system dynamics on the evolution of proteins is hindered by the significant challenge of quantifying the control exerted by the proteins on system output. We have employed a ...
  • Enhancers with tissue-specific activity are enriched in intronic regions
    Borsari, Beatrice, 1992-; Villegas Mirón, Pablo; Pérez-Lluch, Sílvia; Turpin, Isabel; Laayouni, Hafid, 1968-; Segarra Casas, Alba; Bertranpetit, Jaume, 1952-; Guigó Serra, Roderic; Acosta, Sandra (Cold Spring Harbor Laboratory Press (CSHL Press), 2021)
    Tissue function and homeostasis reflect the gene expression signature by which the combination of ubiquitous and tissue-specific genes contribute to the tissue maintenance and stimuli-responsive function. Enhancers are ...
  • Evolution of cytokine production capacity in ancient and modern European populations
    Domínguez-Andrés, Jorge; Kuijpers, Yunus; Bakker, Olivier B.; Jaeger, Martin; Xu, Cheng-Jian; van der Meer, Jos W.M.; Jakobsson, Mattias; Bertranpetit, Jaume, 1952-; Joosten, Leo Ab; Li, Yang; Netea, Mihai G (eLife, 2021)
    As our ancestors migrated throughout different continents, natural selection increased the presence of alleles advantageous in the new environments. Heritable variations that alter the susceptibility to diseases vary with ...
  • Evolutionary analysis of genes of two pathways involved in placental malaria infection
    Sikora, Martin, 1976-; Ferrer Admetlla, Anna; Mayor, Alfredo; Bertranpetit, Jaume, 1952-; Casals López, Ferran (Springer, 2008)
    Placental malaria is a special form of malaria that causes up to 200,000 maternal and infant deaths every year. Previous studies show that two receptor molecules, hyaluronic acid and chondroitin sulphate A, are mediating ...
  • Evolutionary genetics of malaria: genetic susceptibility and natural selection
    Sikora, Martin, 1976- (Universitat Pompeu Fabra, 2010-06-04)
    Una de les forces selectives més fortes que han afectat a les poblacions humanes en la història més recent és el paràsit de la malària: Plasmodium falciparum, que és la causa de varis exemples d'adaptació induïda per ...
  • Evolutionary trajectories of complex traits in European populations of modern humans
    Kuijpers, Yunus; Domínguez-Andrés, Jorge; Bakker, Olivier B.; Gupta, Manoj Kumar; Grasshoff, Martin; Xu, Cheng-Jian; Joosten, Leo Ab; Bertranpetit, Jaume, 1952-; Netea, Mihai G; Li, Yang (Frontiers, 2022)
    Humans have a great diversity in phenotypes, influenced by genetic, environmental, nutritional, cultural, and social factors. Understanding the historical trends of physiological traits can shed light on human physiology, ...
  • Exploring the rate-limiting steps in visual phototransduction recovery by bottom-up kinetic modeling
    Invergo, Brandon M., 1982-; Montanucci, Ludovica, 1978-; Koch, Karl-Wilhelm; Bertranpetit, Jaume, 1952-; Dell'Orco, Daniele (BioMed Central, 2013)
    Phototransduction in vertebrate photoreceptor cells represents a paradigm of signaling pathways mediated by G-protein-coupled receptors (GPCRs), which share common modules linking the initiation of the cascade to the final ...
  • Factors genètics de risc en la malaltia d'Alzheimer
    Clarimón Echevarría, Jordi (Universitat Pompeu Fabra, 2003-03-28)
    En la present tesi doctoral es va establir i calcular els factors genètics de risc per a la forma tardana de la malaltia d'Alzheimer (MA). Foren analitzats un total de 15 variants gèniques (polimorfismes) ubicats en alguns ...
  • From cheek swabs to consensus sequences: an A to Z protocol for high-throughput DNA sequencing of complete human mitochondrial genomes
    Clark, Andrew; Prost, Stefan; Stanton, Jo-Ann L.; White, W. Timothy J.; Kaplan, Matthew E.; Matisoo Smith, Elizabeth; Genographic Consortium; Bertranpetit, Jaume, 1952-; Comas, David, 1969-; Haber, Marc, 1980-; Martínez Cruz, Begoña; Soria Hernanz, David F (BioMed Central, 2014)
    Background: Next-generation DNA sequencing (NGS) technologies have made huge impacts in many fields of biological research, but especially in evolutionary biology. One area where NGS has shown potential is for high-throughput ...
  • From networks to population-specific adaptations : studying positive selection in humans
    Dobón Berenguer, Begoña, 1987- (Universitat Pompeu Fabra, 2018-11-23)
    The evolution of the genome is driven, among other factors, by the composition of the genome, the functional output of the gene products, and by environmental pressures. Among the environmental factors, pathogens are one ...
  • Functional role of positively selected amino acid substitutions in mammalian rhodopsin evolution
    Fernández Sampedro, Miguel A.; Invergo, Brandon M., 1982-; Ramon, Eva; Bertranpetit, Jaume, 1952-; Garriga, Pere (Nature Publishing Group, 2016)
    Visual rhodopsins are membrane proteins that function as light photoreceptors in the vertebrate retina. Specific amino acids have been positively selected in visual pigments during mammal evolution, which, as products of ...
  • Further confirmation for unknown archaic ancestry in Andaman and South Asia
    Mondal, Mayukh, 1989-; Casals López, Ferran; Majumder, Partha P.; Bertranpetit, Jaume, 1952- (Cold Spring Harbor Laboratory Press (CSHL Press), 2016)
    In a recent paper, we have derived three main conclusions: i) that all Asian and Pacific populations share a single origin and expansion out of Africa, contradicting an earlier proposal of two independent waves; ii) that ...
  • Gene connectivity and enzyme evolution in the human metabolic network
    Dobón Berenguer, Begoña, 1987-; Montanucci, Ludovica, 1978-; Peretó, Juli; Bertranpetit, Jaume, 1952-; Laayouni, Hafid, 1968- (BioMed Central, 2019)
    Background: Determining the factors involved in the likelihood of a gene being under adaptive selection is still a challenging goal in Evolutionary Biology. Here, we perform an evolutionary analysis of the human metabolic ...
  • Genetic adaptation of the antibacterial human innate immunity network
    Casals López, Ferran; Sikora, Martin, 1976-; Laayouni, Hafid, 1968-; Montanucci, Ludovica, 1978-; Muntasell i Castellví, Aura, 1972-; Lazarus, Ross; Calafell i Majó, Francesc; Awadalla, Philip; Netea, Mihai G; Bertranpetit, Jaume, 1952- (BioMed Central, 2011)
    Background: Pathogens have represented an important selective force during the adaptation of modern human populations to changing social and other environmental conditions. The evolution of the immune system has therefore ...
  • Genetic Analysis of the prehistoic peopling of Western Europe: Ancient DNA the role of contamination
    Sampietro Bergua, Mª Lourdes (Universitat Pompeu Fabra, 2007-01-19)
    In this thesis we have addressed three different although related topics. First, we studied the post-mortem mutation damage rate of contaminated DNA sequences in ancient human remains focusing on the development of strategies ...