Browsing by Author "Sharp, Andrew J."

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  • DNA methylation: insights into human evolution
    Hernando Herráez, Irene, 1985-; García Pérez, Raquel, 1989-; Sharp, Andrew J.; Marquès i Bonet, Tomàs, 1975- (Public Library of Science (PLoS), 2015)
    A fundamental initiative for evolutionary biologists is to understand the molecular basis underlying phenotypic diversity. A long-standing hypothesis states that species-specific traits may be explained by differences in ...
  • Dynamics of DNA methylation in recent human and great ape evolution
    Hernando Herráez, Irene, 1985-; Prado Martínez, Javier, 1987-; Garg, Paras; Fernández Callejo, Marcos; Heyn, Holger; Hvilsom, Christina; Navarro i Cuartiellas, Arcadi, 1969-; Esteller, Manel; Sharp, Andrew J.; Marquès i Bonet, Tomàs, 1975- (Public Library of Science (PLoS), 2013)
    DNA methylation is an epigenetic modification involved in regulatory processes such as cell differentiation during development, X-chromosome inactivation, genomic imprinting and susceptibility to complex disease. However, ...
  • Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region
    Brault, Véronique; Duchon, Arnaud; Romestaing, Caroline; Sahún, Ignasi; Pothion, Stéphanie; Karout, Mona; Borel, Christelle; Dembele, Doulaye; Bizot, Jean-Charles; Messaddeq, Nadia; Sharp, Andrew J.; Roussel, Damien; Antonarakis, Stylianos E.; Dierssen, Mara; Hérault, Yann (Public Library of Science (PLoS), 2015)
    The trisomy of human chromosome 21 (Hsa21), which causes Down syndrome (DS), is the most common viable human aneuploidy. In contrast to trisomy, the complete monosomy (M21) of Hsa21 is lethal, and only partial monosomy or ...
  • Polymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans
    Quilez Oliete, Javier; Guilmatre, Audrey; Garg, Paras; Highnam, Gareth; Gymrek, Melissa; Erlich, Yaniv; Joshi, Ricky S.; Mittelman, David; Sharp, Andrew J. (Oxford University Press, 2016)
    Despite representing an important source of genetic variation, tandem repeats (TRs) remain poorly studied due to technical difficulties. We hypothesized that TRs can operate as expression (eQTLs) and methylation (mQTLs) ...
  • Tandem repeat variation in human and great ape populations and its impact on gene expression divergence
    Sonay, Tugce Bilgin; Carvalho, Tiago Loureiro de, 1987-; Robinson, Mark D.; Greminger, Maja P.; Krützen, Michael; Comas, David, 1969-; Highnam, Gareth; Mittelman, David; Sharp, Andrew J.; Marquès i Bonet, Tomàs, 1975-; Wagner, Andreas (Cold Spring Harbor Laboratory Press (CSHL Press), 2015)
    Tandem repeats (TRs) are stretches of DNA that are highly variable in length and mutate rapidly. They are thus an important source of genetic variation. This variation is highly informative for population and conservation ...
  • The interplay between DNA methylation and sequence divergence in recent human evolution
    Hernando Herráez, Irene, 1985-; Heyn, Holger; Fernández Callejo, Marcos; Vidal, Enrique; Fernández Bellon, Hugo; Prado Martínez, Javier, 1987-; Sharp, Andrew J.; Esteller, Manel; Marquès i Bonet, Tomàs, 1975- (Oxford University Press, 2015)
    Despite the increasing knowledge about DNA methylation, the understanding of human epigenome evolution is in its infancy. Using whole genome bisulfite sequencing we identified hundreds of differentially methylated regions ...

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