Aggiornamento biogràfic de Joan Pere Fontanella (1575-1649)

Com tants altres personatges de la nostra història, el pare de FrancescFontanella i Garraver –el jurisconsult olotí Joan Pere Fontanella–ha estat objecte durant dècades d’un encadenament de notíciesbiogràfiques on s’han reiterat dades no sempre filtrades científicament.Això ha abocat diverses generacions a acumular imprecisions sobre ell,fins i tot a distorsionar-ne la significació ideològica i política, sovinten clau d’un patriotisme ardorós. Volem contribuir, sense cap ànimd’esmena, a esclarir i difondre algunes informacions sobre les sevesvida i obra i el seu pensament jurídic i polític. I considerem adientfer-ho en un marc que ratione loci convida a ventilar els forts lligamsque l’advocat mantingué amb la ciutat de Girona i ratione materiaeobliga a subratllar el seu vessant protector dels parents i pròxims i,més a l’engròs, la seva vocació per analitzar amb el dret a la mà elcomplexíssim món de les relacions familiars.

Las dos versiones de la Cuarta Sinfonía de Robert Schumann : primer caso de revisión de una sinfonía por parte del propio compositor

La Cuarta Sinfonía de Robert Schumann ha sido una obra clave del repertorio orquestal desde su triunfal estreno en 1853, considerándose una de las mejores creaciones del compositor. Sin embargo no es conocido el hecho de que esta sinfonía es en realidad la revisión de una obra de juventud que se estrenó sin éxito diez años antes, siendo Johannes Brahms quien, a finales del siglo XIX, defendió la mayor calidad de la Primera versión intentando revivirla, encontrando la oposición de Clara Schumann. Por lo tanto intentaré en este Proyecto Final estudiar en profundidad las dos versiones, analizando sus diferencias y planteando una hipótesis del por qué de la revisión del autor, presentando ambas versiones en el concierto en el que culmina este estudio.

A subspace correction method for discontinuous Galerkin discretizations of linear elasticity equations

We study preconditioning techniques for discontinuous Galerkin discretizations of isotropic linear elasticity problems in primal (displacement) formulation. We propose subspace correction methods based on a splitting of the vector valued piecewise linear discontinuous finite element space, that are optimal with respect to the mesh size and the Lamé parameters. The pure displacement, the mixed and the traction free problems are discussed in detail. We present a convergence analysis of the proposed preconditioners and include numerical examples that validate the theory and assess the performance of the preconditioners.

Open minded and open access: introducing NeoBiota, a new peer-reviewed journal of biological invasions

The Editorial presents the focus, scope, policies, and the inaugural issue of NeoBiota, a new open access peer-reviewed journal of biological invasions. The new journal NeoBiota is a continuation of the former NEOBIOTA publication series. The journal will deal with all aspects of invasion biology and impose no restrictions on manuscript size neither on use of color. NeoBiota implies an XML-based editorial workflow and several cutting-edge innovations in publishing and dissemination, such as semantic markup of and enhancements to published texts, data publication, and extensive cross-linking within the journal and to external sources

Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders

Eating disorders (EDs) are complex psychiatric diseases that include anorexia nervosa and bulimia nervosa, and have higher than 50% heritability. Previous studies have found association of BDNF and NTRK2 to ED, while animal models suggest that other neurotrophin genes might also be involved in eating behavior. We have performed a family-based association study with 151 TagSNPs covering 10 neurotrophin signaling genes: NGFB, BDNF, NTRK1, NGFR/p75, NTF4/5, NTRK2, NTF3, NTRK3, CNTF and CNTFR in 371 ED trios of Spanish, French and German origin. Besides several nominal associations, we found a strong significant association after correcting for multiple testing (P = 1.04 × 10−4) between ED and rs7180942, located in the NTRK3 gene, which followed an overdominant model of inheritance. Interestingly, HapMap unrelated individuals carrying the rs7180942 risk genotypes for ED showed higher levels of expression of NTRK3 in lymphoblastoid cell lines. Furthermore, higher expression of the orthologous murine Ntrk3 gene was also detected in the hypothalamus of the anx/anx mouse model of anorexia. Finally, variants in NGFB gene appear to modify the risk conferred by the NTRK3 rs7180942 risk genotypes (P = 4.0 × 10−5) showing a synergistic epistatic interaction. The reported data, in addition to the previous reported findings for BDNF and NTRK2, point neurotrophin signaling genes as key regulators of eating behavior and their altered cross-regulation as susceptibility factors for EDs.

Genetic characterization of the ABO blood group in Neandertals

Background: The high polymorphism rate in the human ABO blood group gene seems to be related to susceptibility to different pathogens. It has been estimated that all genetic variation underlying the human ABO alleles appeared along the human lineage, after the divergence from the chimpanzee lineage. A paleogenetic analysis of the ABO blood group gene in Neandertals allows us to directly test for the presence of the ABO alleles in these extinct humans. Results: We have analysed two male Neandertals that were retrieved under controlled conditions at the El Sidron site in Asturias (Spain) and that appeared to be almost free of modern human DNA contamination. We find a human specific diagnostic deletion for blood group O (O01 haplotype) in both Neandertal individuals. Conclusion: These results suggest that the genetic change responsible for the O blood group in humans predates the human and Neandertal divergence. A potential selective event associated with the emergence of the O allele may have therefore occurred after humans separated from their common ancestor with chimpanzees and before the human-Neandertal population divergence.

African signatures of recent positive selection in human FOXI1

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 underhuman-specific selection. We sought to confirm this finding by using an extended set of orthologous sequences.Additionally, we explored for signals of natural selection within humans by sequencing the gene in 20 Europeans,20 East Asians and 20 Yorubas and by analysing SNP variation in a 2 Mb region centered on FOXI1 in 39worldwide human populations from the HGDP-CEPH diversity panel.Results: The genome sequences recently available from other primate and non-primate species showed that FOXI1divergence patterns are compatible with neutral evolution. Sequence-based neutrality tests were not significant inEuropeans, East Asians or Yorubas. However, the Long Range Haplotype (LRH) test, as well as the iHS and XP-Rsbstatistics revealed significantly extended tracks of homozygosity around FOXI1 in Africa, suggesting a recentepisode of positive selection acting on this gene. A functionally relevant SNP, as well as several SNPs either on theputatively selected core haplotypes or with significant iHS or XP-Rsb values, displayed allele frequencies stronglycorrelated with the absolute geographical latitude of the populations sampled.Conclusions: We present evidence for recent positive selection in the FOXI1 gene region in Africa. Climate mightbe related to this recent adaptive event in humans. Of the multiple functions of FOXI1, its role in kidney-mediatedwater-electrolyte homeostasis is the most obvious candidate for explaining a climate-related adaptation.

La infàmia de tenir sang jueva a la Catalunya moderna: ecos del Reial Consell i de la literatura jurídica

El modest propòsit de la nostra participació en aquesta miscel·lània és posar de relleu dues importants resolucions adoptades al Reial Consell i Audiència de Catalunya a principi de la dècada de 1580, en relació amb discriminacions per motius de genealogia i de pretesa condició o sang jueva. Dóna fe de la rellevància de tals resolucions el fet que fossin comentades amb deteniment per dos autors de literatura jurídica cabdal com Lluís de Peguera (1540-1610) iJoan Pere Fontanella (1575-1649). Per bé que tinguessin trajectòries professionals molt dissímils –el primer seria ministre de la monarquia al Principat i el segon advocat de grans corporacions i particulars–, ambdós contribuirien a difondre sentències de les principals jurisdiccions del país i s’esplaiarien sobre llurs fonaments legals i doctrinals. És a dir, cultivarien, cadascú a la seva manera, el gènere ‘decisionista’ tan en boga a l’Europa moderna del ius commune tardà.

The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild

BACKGROUND: The only known albino gorilla, named Snowflake, was a male wild born individual from Equatorial Guinea who lived at the Barcelona Zoo for almost 40 years. He was diagnosed with non-syndromic oculocutaneous albinism, i.e. white hair, light eyes, pink skin, photophobia and reduced visual acuity. Despite previous efforts to explain the genetic cause, this is still unknown. Here, we study the genetic cause of his albinism and making use of whole genome sequencing data we find a higher inbreeding coefficient compared to other gorillas.RESULTS: We successfully identified the causal genetic variant for Snowflake's albinism, a non-synonymous single nucleotide variant located in a transmembrane region of SLC45A2. This transporter is known to be involved in oculocutaneous albinism type 4 (OCA4) in humans. We provide experimental evidence that shows that this amino acid replacement alters the membrane spanning capability of this transmembrane region. Finally, we provide a comprehensive study of genome-wide patterns of autozygogosity revealing that Snowflake's parents were related, being this the first report of inbreeding in a wild born Western lowland gorilla.CONCLUSIONS: In this study we demonstrate how the use of whole genome sequencing can be extended to link genotype and phenotype in non-model organisms and it can be a powerful tool in conservation genetics (e.g., inbreeding and genetic diversity) with the expected decrease in sequencing cost.