The structure and function of the mouse tyrosinase locus Seruggia, Davide; Josa, Santiago; Fernández, Almudena ...
Pigment cell and melanoma research,
March 2021, 2021-03-00, 20210301, Letnik:
34, Številka:
2
Journal Article
Recenzirano
Odprti dostop
Tyr is the mouse gene that encodes tyrosinase, an enzyme that triggers the first and rate‐limiting step in the biosynthesis of melanin. Mutations in Tyr might result in non‐functional Tyr protein ...and, consequently, loss of pigment production. This is a rare genetic condition, known as albinism, described for most animal species and one of the most obvious and simple phenotypes to investigate in model organisms. Mutations in the orthologous human TYR gene are associated with oculocutaneous albinism type 1 (OCA1). Over the last thirty years, the mouse Tyr locus has been studied as a paradigm for how genes and expression domains are organized and regulated in mammalian genomes. This review summarizes the major findings and experimental strategies used, from the production of conventional transgenic mice to the latest CRISPR‐Cas9 genome‐edited animals. The main conclusion inferred from all of these studies, which extends beyond the analysis of the mouse Tyr locus, is the relevance of analyzing non‐coding regulatory DNA elements in their natural chromosomal environment, and not only as randomly inserted transgenes. Further, the identification of evolutionary conserved regulatory sequences might highlight new vulnerable sites in the human TYR gene, whose mutations could also be associated with albinism.
Luis Vélez de Guevara had the insight and talent necessary to understand the dramatic possibilities of balladry and other musical effects. His poetic style led him early on to appreciate the dramatic ...and social impact that musical elements, whether sung or danced, could have in plays. For this reason it is necessary to situate Vélez in a critical context that will allow us to better understand how music forms part of his dramatic artistry.
Water management plays a major role in any city, but applying alternative strategies might be more or less feasible depending on the urban form and water demand. This paper aims to compare the ...environmental performance of implementing rainwater harvesting (RWH) systems in American and European cities. To do so, two neighborhoods with a water-stressed Mediterranean climate were selected in contrasting cities, i.e., Calafell (Catalonia, Spain) and Ukiah (California, US). Calafell is a high-density, tourist city, whereas Ukiah is a typical sprawled area. We studied the life cycle impacts of RWH in urban contexts by using runoff modeling before (i.e. business as usual) and after the implementation of this system. In general, cisterns were able to supply >75% of the rainwater demand for laundry and toilet flushing. The exception were multi-story buildings with roofs smaller than 200m2, where the catchment area was insufficient to meet demand. The implementation of RWH was environmentally beneficial with respect to the business-as-usual scenario, especially because of reduced runoff treatment needs. Along with soil features, roof area and water demand were major parameters that affected this reduction. RWH systems are more attractive in Calafell, which had 60% lower impacts than in Ukiah. Therefore, high-density areas can potentially benefit more from RWH than sprawled cities.
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•We combined hydrologic modeling and life cycle assessment for rainwater management.•Two neighborhoods were compared based on urban form and water demand.•Rainwater harvesting reduced stormwater runoff and offered environmental benefits.•Higher urban density and water demand increase the benefits of rainwater harvesting.
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