Browsing by Author "Bosch Fusté, Elena"

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  • A new risk variant for multiple sclerosis at 11q23.3 locus is associated with expansion of CXCR5+ circulating regulatory T cells
    Gil-Varea, Elia; Bosch Fusté, Elena; Navarro i Cuartiellas, Arcadi, 1969-; Comabella López, Manuel (MDPI, 2020)
    Genome-wide association studies and meta-analysis have contributed to the identification of more than 200 loci associated with multiple sclerosis (MS). However, a proportion of MS heritability remains unknown. We aimed to ...
  • Adaptive selection drives TRPP3 loss-of-function in an Ethiopian population
    Walsh Capdevila, Sandra, 1991-; Izquierdo Serra, Mercè; Acosta, Sandra; Edo, Albert; Lloret, María; Moret, Roser; Bosch Fusté, Elena; Oliva Miguel, Baldomero; Bertranpetit, Jaume, 1952-; Fernández-Fernández, José Manuel, 1967- (Nature Research, 2020)
    TRPP3 (also called PKD2L1) is a nonselective, cation-permeable channel activated by multiple stimuli, including extracellular pH changes. TRPP3 had been considered a candidate for sour sensor in humans, due to its high ...
  • African signatures of recent positive selection in human FOXI1
    Moreno Estrada, Andrés; Aparicio i Prat, Estel, 1986-; Sikora, Martin, 1976-; Engelken, Johannes; Ramírez Soriano, Anna; Calafell i Majó, Francesc; Bosch Fusté, Elena (BioMed Central, 2010)
    Background: The human FOXI1 gene codes for a transcription factor involved in the physiology of the inner ear, testis, and kidney. Using three interspecies comparisons, it has been suggested that this may be a gene ...
  • Analysis of ancestral and functionally relevant CD5 variants in systemic lupus erythematosus patients
    Cenit, Maria Carmen; Martínez-Florensa, Mario; Consuegra, Marta; Bonet, Lizette; Carnero-Montoro, Elena, 1985-; Armiger, Noelia; Caballero-Baños, Miguel; Arias, Maria Teresa; Benítez, Daniel; Ortego-Centeno, Norberto; Ramón, Enrique de; Sabio, José Mario; García-Hernández, Francisco J.; Tolosa, Carles; Suárez, Ana; González-Gay, Miguel; Bosch Fusté, Elena; Martín, Javier; Lozano, Francisco (Public Library of Science (PLoS), 2014)
    Objective: CD5 plays a crucial role in autoimmunity and is a well-established genetic risk factor of developing RA. Recently, evidence of positive selection has been provided for the CD5 Pro224-Val471 haplotype in East ...
  • Analysis of five gene sets in chimpanzees suggests decoupling between the action of selection on protein-coding and on noncoding elements
    Santpere Baró, Gabriel, 1981-; Carnero-Montoro, Elena, 1985-; Petit, Natalia; Serra, François; Hvilsom, Christina; Rambla de Argila, Jordi; Heredia Genestar, José María, 1985-; Halligan, Daniel L.; Dopazo, Hernán; Navarro i Cuartiellas, Arcadi, 1969-; Bosch Fusté, Elena (Oxford University Press, 2015)
    We set out to investigate potential differences and similarities between the selective forces acting upon the coding and noncoding regions of five different sets of genes defined according to functional and evolutionary ...
  • Analysis of human genetic variation in candidate genes under positive selections on the human linage
    Moreno Estrada, Andrés (Universitat Pompeu Fabra, 2009-04-21)
    Natural selection has played an important role in shaping human genetic variation, thus, finding variants that have been targeted by positive selection can provide insights about which genes influence human phenotypic ...
  • Contribution of evolutionary selected immune gene polymorphism to immune-related disorders: the case of lymphocyte scavenger receptors CD5 and CD6
    Casadó Llombart, Sergi; Velasco de Andrés, María; Català, Cristina; Leyton Pereira, Alejandra; Lozano, Francisco; Bosch Fusté, Elena (MDPI, 2021)
    Pathogens are one of the main selective pressures that ancestral humans had to adapt to. Components of the immune response system have been preferential targets of natural selection in response to such pathogen-driven ...
  • Copy number variation analysis in the great apes reveals species-specific patterns of structural variation
    Gazave, Elodie; Darre, Fleur; Morcillo Suárez, Carlos, 1969-; Petit, Natalia; Carreño Torres, Angel; Marigorta, Urko M.; Ryder, Oliver A.; Blancher, Antoine; Rocchi, Mariano; Bosch Fusté, Elena; Baker, Carl; Marquès i Bonet, Tomàs, 1975-; Eichler, Evan E.; Navarro i Cuartiellas, Arcadi, 1969- (Cold Spring Harbor Laboratory Press (CSHL Press), 2011)
    Copy number variants (CNVs) are increasingly acknowledged as an important source of evolutionary novelties in the human lineage. However, our understanding of their significance is still hindered by the lack of primate CNV ...
  • 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 ...
  • Deciphering adaptation in the human genome : the case of CaSR in south-east Asian hunter-gatherers
    Sinigaglia, Barbara (Universitat Pompeu Fabra, 2022-12-15)
    Several rainforest hunter-gatherer groups in south-east Asia are characterized by specific morphological features including a particularly dark skin color (D), an extremely short stature (S), the development of woolly hair ...
  • Detection of genomic rearrangements from targeted resequencing data in Parkinson's disease patients
    Spataro, Nino, 1984-; Roca-Umbert Würth, Ana; Cervera-Carles, Laura; Vallès, Mònica; Anglada Busquets, Roger; Pagonabarraga, Javier; Pascual Sedano, Berta; Campolongo Perillo, Antònia; Kulisevsky, Jaime J.; Casals López, Ferran; Clarimón Echevarría, Jordi; Bosch Fusté, Elena (Wiley, 2017)
    Background: The analysis of coverage depth in next-generation sequencing data allows the detection of gene dose alterations. We explore the frequency of such structural events in a Spanish cohort of sporadic PD cases. ...
  • 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 ...
  • Draft genome sequence of aeromonas molluscorum strain 848TT, isolated from bivalve molluscs
    Spataro, Nino, 1984-; Farfán, Maribel; Albarral, Vicenta; Sanglas, Ariadna; Lorén, J. Gaspar; Fusté, Mª Carme; Bosch Fusté, Elena (American Society for Microbiology, 2013)
    We report here the draft genome sequence of Aeromonas molluscorum 848T, the type strain of this Aeromonas species, which was isolated from wedge shells (Donax trunculus) obtained from a retail market in Barcelona, Spain, in 1997.
  • Draft genome sequence of the aeromonas diversa type strain
    Farfán, Maribel; Spataro, Nino, 1984-; Sanglas, Ariadna; Albarral, Vicenta; Lorén, J. Gaspar; Bosch Fusté, Elena; Fusté, Mª Carme (American Society for Microbiology, 2013)
    We present here the first genome sequence of the Aeromonas diversa type strain (CECT 4254(T)). This strain was isolated from the leg wound of a patient in New Orleans (Louisiana) and was originally described as enteric ...
  • Evaluating the genetics of common variable immunodeficiency: monogenetic model and beyond
    Valles Ibáñez, Guillem de, 1986-; Hernández Rodríguez, Jéssica, 1983-; Laayouni, Hafid, 1968-; Cuscó Martí, Ivon, 1973-; Codina i Solà, Marta, 1988-; Batlle Masó, Laura, 1993-; Solís Moruno, Manuel, 1993-; Marquès i Bonet, Tomàs, 1975-; Bosch Fusté, Elena; Casals López, Ferran (Frontiers, 2018)
    Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor response to vaccines. Its diagnosis is made based on ...
  • Extreme population differences in the human zinc transporter ZIP4 (SLC39A4) are explained by positive selection in Sub-Saharan Africa
    Engelken, Johannes; Carnero-Montoro, Elena, 1985-; Pybus Oliveras, Marc, 1985-; Andrews, Glen K.; Lalueza Fox, Carles, 1965-; Comas, David, 1969-; Sekler, Israel; de la Rasilla, Marco; Rosas, Antonio; Stoneking, Mark; Valverde, M. A. (Miguel Ángel), 1963-; Vicente García, Rubén, 1978-; Bosch Fusté, Elena (Public Library of Science (PLoS), 2014)
    Extreme differences in allele frequency between West Africans and Eurasians were observed for a leucine-to-valine substitution (Leu372Val) in the human intestinal zinc uptake transporter, ZIP4, yet no further evidence was ...
  • Genetic adaptation in underrepresented populations: the cases of Peruvian and North African populations
    Caro Consuegra, Rocío (Universitat Pompeu Fabra, 2023-02-24)
    As a result of local selective pressures, genetic adaptation leaves distinct recognisable marks in the genomes of human populations. Several cases of positive natural selection have been described in humans, but only in a ...
  • Genomic and functional approaches to genetic adaptation
    Carnero-Montoro, Elena, 1985- (Universitat Pompeu Fabra, 2013-10-25)
    The genetic basis of phenotypes that have contributed to the adaptation of species and organisms to new environments is a central question in evolutionary genetics. The recent accumulation of genetic variability data has ...
  • Human genetic disorders: Mendelian and complex diseases
    Spataro, Nino, 1984- (Universitat Pompeu Fabra, 2016-10-26)
    From Darwin’s “On the Origin of Species”, many years elapsed before human diseases were considered in an evolutionary framework. Besides theoretical and empirical advances, we are far from the complete understanding of ...
  • Identifying signatures of positive selection in human populations from North Africa
    Caro Consuegra, Rocio; Lucas Sánchez, Marcel; Comas, David, 1969-; Bosch Fusté, Elena (Nature Research, 2023)
    Because of its location, North Africa (NA) has witnessed continuous demographic movements with an impact on the genomes of present-day human populations. Genomic data describe a complex scenario with varying proportions ...