Plantem un arbre

L’objecte de la proposta presentada en el concurs va ser desenvolupar un projecte d’hàbitat accessible per a persones amb paràlisi cerebral o discapacitat física greument afectades que resolgui les necessitats d’autonomia que han de permetre la seva emancipació.La proposta es va definir a partir d’un treball previ de comunicació amb usuaris, familiars, associacions, metges, neuròlegs i cuidadors. Aquest mètode fonamentat en el treball participatiu és la base d’un projecte de qualitat que pugui donar resposta a les necessitats dels usuaris reflectint aquestes inquietuds en els criteris adoptats al programa funcional i millorant els requisits de mínims que estableixen les normatives urbanístiques i sobretot edificatòries. Aquest mètode de treball participatiu i inclusiu és una constant clau durant tot el procés de projecte i posterior direcció de les obres.

L'Arbre del Coneixement: un projecte de classificació itesaurització de la terminologia en català

El projecte Arbre del Coneixement, dirigit i promogut pel Grup Enciclopèdia Catalana, neix el 1995 amb un doble propòsit: proporcionar una eina de revisió de la Gran enciclopèdia catalana (obra emblemàtica de l¿editorial) i experimentar noves formes d¿accés a la informació en el marc d¿una societat cada vegada més oberta a les noves tecnologies i als sistemes hipertextuals. El projecte, que es considera finalitzat en el 80 %, organitza, seguint una classificació polijeràrquica, les gairebé 225.000 accepcions que constitueixen el corpus enciclopèdic de la Gran enciclopèdia catalana. En l¿actualitat l¿Arbre del Coneixement ha estat el suport d¿una sèrie de realitzacions editorials encarades tant a l¿interior de l¿editorial (revisió de l¿enciclopèdia, generació de diccionaris temàtics), com orientades als usuaris externs (Hiperenciclopèdia, Fototeca, creació de CD, etc.).

RNA-based gene duplication: mechanistic and evolutionary insights.

Gene copies that stem from the mRNAs of parental source genes have long been viewed as evolutionary dead-ends with little biological relevance. Here we review a range of recent studies that have unveiled a significant number of functional retroposed gene copies in both mammalian and some non-mammalian genomes. These studies have not only revealed previously unknown mechanisms for the emergence of new genes and their functions but have also provided fascinating general insights into molecular and evolutionary processes that have shaped genomes. For example, analyses of chromosomal gene movement patterns via RNA-based gene duplication have shed fresh light on the evolutionary origin and biology of our sex chromosomes.

Gene loss and evolutionary rates following whole-genome duplication in teleost fishes.

Teleost fishes provide the first unambiguous support for ancient whole-genome duplication in an animal lineage. Studies in yeast or plants have shown that the effects of such duplications can be mediated by a complex pattern of gene retention and changes in evolutionary pressure. To explore such patterns in fishes, we have determined by phylogenetic analysis the evolutionary origin of 675 Tetraodon duplicated genes assigned to chromosomes, using additional data from other species of actinopterygian fishes. The subset of genes, which was retained in double after the genome duplication, is enriched in development, signaling, behavior, and regulation functional categories. The evolutionary rate of duplicate fish genes appears to be determined by 3 forces: 1) fish proteins evolve faster than mammalian orthologs; 2) the genes kept in double after genome duplication represent the subset under strongest purifying selection; and 3) following duplication, there is an asymmetric acceleration of evolutionary rate in one of the paralogs. These results show that similar mechanisms are at work in fishes as in yeast or plants and provide a framework for future investigation of the consequences of duplication in fishes and other animals.

Evolution of proteins after whole-genome duplication

Evolution of proteins after whole-genome duplicationGene and genome duplication are considered major mechanisms in the creation of newfunctions in genomes, or in the refinement of networks by the division of function amongmore genes. In animals, the best demonstrated whole genome duplication occurred at theorigin of Teleost fishes. This makes fishes an ideal model to study the consequences ofgenome duplication, particularly since we have a good sampling of genome sequences,abundant functional information, and a very well studied outgroup: the tetrapodes (includinghuman). More specifically, I studied the consequences of duplication on proteins usingevolutionary models to infer adaptive events. I analysed the influence of positive selection invertebrate genes, by contrasting singleton genes and duplicated genes. The conclusion of theanalyses was threefold: (i) positive selection affects diverse phylogenetic branches anddiverse gene categories during vertebrate evolution; (ii) it concerns only a small proportion ofsites (1%-5%); and (iii) whole genome duplication had no detectable impact on theprevalence of this positive selection.I also studied evolution at the amino acid level with different methods to detect functionalshifts (covarion process and constant-but-different process). As in my previous research, Ifound similar numbers of functional shifts between duplicates and between orthologs.The accepted framework for studies of molecular evolution is that orthologs share the samefunction, whereas the function of paralogs diverges. This framework gives a special place togene duplication in evolution, as the main mechanism for generating novelty. With myprevious results showing that duplication and speciation are not so different, we investigatedthe literature to question the evidence for similar or divergent evolution of gene function afterduplication relative to speciation genes. This led us to propose a more rigorous design offuture studies of gene duplication.Finally, based on my automated protocol, we built a database of positive selection invertebrates' genes, Selectome. This database is freely available on the web and will helpfuture evolutionary as well as biochemical studies.

Understanding mutational and selective processes that govern gene duplication in mammals

Abstract : Gene duplication is an essential source of material for the origin of genetic novelties. The reverse transcription of source gene mRNA followed by the genomic insertion of the resulting cDNA - retroposition - has provided the human genome with at least ~3600 detectable retrocopies. We find that ~30% of these retrocopies are transcribed, generally in testes. Their transcription often relies on preexisting regulatory elements (or open chromatin) close to their insertion site, which is illustrated by mRNA molecules containing retrocopies fused to their neighboring genes. Retrocopies appear to have been profoundly shaped by selection. Consistently, human retrocopies with an intact open reading (ORF) are more often transcribed than retropseudogenes, which leads to a minimal estimate of 120 functional retrogenes present in our genome. We also performed an analysis of Ka/Ks for human retrocopies. This analysis demonstrates that several intact retrocopies evolved under purifying selection and yields an estimated formation rate of ~1 retrogene per million year in the primate lineage. Using DNA sequencing and evolutionary simulations, we have identified 7 such primate-specific retrogenes that emerged on the lineage leading to humans In therian genomes, we found an excess of retrogenes with X-linked parents. Expression analyses support the idea that this "out of X" movement was driven by natural selection to produce autosomal functional counterparts for X-linked genes, which are silenced during male meiosis. Phylogenetic dating of this "out of X" movement suggests that our sex chromosomes arose about 180 MYA ago and are thus much younger than previously thought. Finally, we have also analyzed young gene duplications (and deletions) that arose by non allelic-homologous recombination and are not fixed in species. Using wild-caught and laboratory animals, we detected thousands of DNA segments that are polymorphic in copy number in mice. These copy number variants were found to profoundly alter the transcriptome of several mouse tissues. Strikingly, their influence on gene expression is not limited to the gene they contain but seems to extend to genes located up to 1.5 million bases away.

Dibuixar un arbre / Drawing a Tree

L’arbre, un dels símbols més universals i un element intrínsecament vinculat al desenvolupament de la nostra cultura, esdevé, en aquest llibre, el pretext idoni per donar a conèixer alguns dels interrogants que la vivència de l’art contemporani planteja. L’artista Àlex Nogué obre les portes del seu procés de creació per fer visible com es desencadena la gènesi d’una obra d’art i posa a la llum les incerteses, les intuïcions i les aspiracions que comporta la creació artística. Dibuixar un arbre tracta de les similituds entre l’emoció que produeix un plançó al mig d’un bosc i l’emoció de traslladar-lo fins a l’interior d’una presó. De les diferències de dibuixar un xiprer dret o abatut. Dels silencis i dels sorolls de les imatges. Del que una obra pretén i del que mai aconsegueix. Les imatges i els textos d’aquest llibre ens permeten transitar per l’interior de vuit processos de creació i ens mostren com els treballs artístics neixen i creixen. Per emmarcar l’experiència creativa en el context cultural contemporani, Dibuixar unarbre s’inicia amb cinc reflexions d’autors que han viscut amb empatia aquest recorregutcreatiu. Ells mateixos estan immersos de manera apassionada en la creació, producció,difusió o direcció de projectes creatius, i són: Eudald Camps, Xavier Franquesa, Rosa Pera, Víctor Sunyol i Àngels Viladomiu.

Patient with Fanconi Syndrome (FS) and retinitis pigmentosa (RP) caused by a deletion and duplication of mitochondrial DNA (mtDNA).

BACKGROUND: We report a patient with a highly unusual presentation of a mitochondrial disorder. HISTORY AND SIGNS: An 8-year old girl presented with muscular cramps as well as height and weight deceleration. Investigations revealed lactic acidosis, electrolytic imbalance and urinary loss of glucose and electrolytes secondary to proximal renal tubulopathy consistent with Fanconi syndrome (FS). Ophthalmic examination revealed asymptomatic retinitis pigmentosa (RP) with no other ocular manifestations. A mitochondriopathy was suspected and genetic analysis performed. THERAPY AND OUTCOME: Southern blotting documented a heteroplasmic mutation of mtDNA with deletion/duplication. Three discrete mitochondrial genomes were detected: normal; deletion of 6.7 kb and a deletion/duplication consisting of 1 normal and 1 deleted genome. The relative proportions varied considerably between tissues. CONCLUSIONS: The association of FS and RP combines features of Kearns-Sayre syndrome and Pearson marrow-pancreas syndrome, without being typical of either. This highly unusual clinical presentation emphasises the need for systemic investigation of patients with FS and further underlines the importance of mtDNA analysis in patients with unexpected associations of affected tissues.