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Publicações

Publicações por BIO

2013

Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis

Autores
Bassaganyas, L; Beà, S; Escaramís, G; Tornador, C; Salaverria, I; Zapata, L; Drechsel, O; Ferreira, PG; Rodriguez Santiago, B; Tubio, JMC; Navarro, A; Martín García, D; López, C; Martínez Trillos, A; López Guillermo, A; Gut, M; Ossowski, S; López Otín, C; Campo, E; Estivill, X;

Publicação
Leukemia

Abstract

2013

Comparison between optical measurements made from natural and frozen samples at optical clearing

Autores
Oliveira, L; Carvalho, MI; Nogueira, E; Tuchin, VV;

Publicação
SARATOV FALL MEETING 2012: OPTICAL TECHNOLOGIES IN BIOPHYSICS AND MEDICINE XIV; AND LASER PHYSICS AND PHOTONICS XIV

Abstract
To determine the differences between the optical clearing effects created by ethylene glycol in fresh and frozen samples, we have performed several measurements from samples in both conditions. Fresh samples were used after animal sacrifice and frozen samples were kept at -20 degrees C for 72 hours. The different measurements performed with samples from both cases were total transmittance, collimated transmittance, total reflectance and specular reflectance. Considering, for instance, collimated transmittance measurements, we have verified that the spectra measured from both samples before adding the solution present different levels of collimated transmittance. The time-dependence evolution of the collimated transmittance spectrum is similar between both cases of samples, but since they present different levels of "natural" transmittance, the optical clearing effect is observed at different levels if we compare between fresh and frozen samples.

2013

Transcriptome analyses of primitively eusocial wasps reveal novel insights into the evolution of sociality and the origin of alternative phenotypes

Autores
Ferreira, PG; Patalano, S; Chauhan, R; Ffrench Constant, R; Gabaldon, T; Guigo, R; Sumner, S;

Publicação
GENOME BIOLOGY

Abstract
Background: Understanding how alternative phenotypes arise from the same genome is a major challenge in modern biology. Eusociality in insects requires the evolution of two alternative phenotypes - workers, who sacrifice personal reproduction, and queens, who realize that reproduction. Extensive work on honeybees and ants has revealed the molecular basis of derived queen and worker phenotypes in highly eusocial lineages, but we lack equivalent deep-level analyses of wasps and of primitively eusocial species, the latter of which can reveal how phenotypic decoupling first occurs in the early stages of eusocial evolution. Results: We sequenced 20 Gbp of transcriptomes derived from brains of different behavioral castes of the primitively eusocial tropical paper wasp Polistes canadensis. Surprisingly, 75% of the 2,442 genes differentially expressed between phenotypes were novel, having no significant homology with described sequences. Moreover, 90% of these novel genes were significantly upregulated in workers relative to queens. Differential expression of novel genes in the early stages of sociality may be important in facilitating the evolution of worker behavioral complexity in eusocial evolution. We also found surprisingly low correlation in the identity and direction of expression of differentially expressed genes across similar phenotypes in different social lineages, supporting the idea that social evolution in different lineages requires substantial de novo rewiring of molecular pathways. Conclusions: These genomic resources for aculeate wasps and first transcriptome-wide insights into the origin of castes bring us closer to a more general understanding of eusocial evolution and how phenotypic diversity arises from the same genome.

2013

Transcriptome and genome sequencing uncovers functional variation in humans

Autores
Lappalainen, T; Sammeth, M; Friedländer, MR; ‘t Hoen, PAC; Monlong, J; Rivas, MA; Gonzàlez-Porta, M; Kurbatova, N; Griebel, T; Ferreira, PG; Barann, M; Wieland, T; Greger, L; van Iterson, M; Almlöf, J; Ribeca, P; Pulyakhina, I; Esser, D; Giger, T; Tikhonov, A; Sultan, M; Bertier, G; MacArthur, DG; Lek, M; Lizano, E; Buermans, HPJ; Padioleau, I; Schwarzmayr, T; Karlberg, O; Ongen, H; Kilpinen, H; Beltran, S; Gut, M; Kahlem, K; Amstislavskiy, V; Stegle, O; Pirinen, M; Montgomery, SB; Donnelly, P; McCarthy, MI; Flicek, P; Strom, TM; The Geuvadis Consortium,; Lehrach, H; Schreiber, S; Sudbrak, R; Carracedo,; Antonarakis, SE; Häsler, R; Syvänen, A; van Ommen, G; Brazma, A; Meitinger, T; Rosenstiel, P; Guigó, R; Gut, IG; Estivill, X; Dermitzakis, ET;

Publicação
NATURE

Abstract
Genome sequencing projects are discovering millions of genetic variants in humans, and interpretation of their functional effects is essential for understanding the genetic basis of variation in human traits. Here we report sequencing and deep analysis of messenger RNA and microRNA from lymphoblastoid cell lines of 462 individuals from the 1000 Genomes Project-the first uniformly processed high-throughput RNA-sequencing data from multiple human populations with high-quality genome sequences. We discover extremely widespread genetic variation affecting the regulation of most genes, with transcript structure and expression level variation being equally common but genetically largely independent. Our characterization of causal regulatory variation sheds light on the cellular mechanisms of regulatory and loss-of-function variation, and allows us to infer putative causal variants for dozens of disease-associated loci. Altogether, this study provides a deep understanding of the cellular mechanisms of transcriptome variation and of the landscape of functional variants in the human genome.

2013

Immune response is a personal matter

Autores
Ferreira, PG; Dermitzakis, ET;

Publicação
eLife

Abstract

2013

CPEB1 coordinates alternative 3 ' -UTR formation with translational regulation

Autores
Bava, FA; Eliscovich, C; Ferreira, PG; Minana, B; Ben Dov, C; Guigo, R; Valcarcel, J; Mendez, R;

Publicação
NATURE

Abstract
More than half of mammalian genes generate multiple messenger RNA isoforms that differ in their 3' untranslated regions (3' UTRs) and therefore in regulatory sequences(1), often associated with cell proliferation and cancer(2,3); however, the mechanisms coordinating alternative 3'-UTR processing for specific mRNA populations remain poorly defined. Here we report that the cytoplasmic-polyadenylation element binding protein 1 (CPEB1), an RNA-binding protein that regulates mRNA translation(4), also controls alternative 3'-UTR processing. CPEB1 shuttles to the nudeus(5,6), where it co-localizes with splicing factors and mediates shortening of hundreds of mRNA 3' UTRs, thereby modulating their translation efficiency in the cytoplasm. CPEB1-mediated 3'-UTR shortening correlates with cell proliferation and tumorigenesis. CPEB1 binding to pre-mRNAs not only directs the use of alternative polyadenylation sites, but also changes alternative splicing by preventing U2AF65 recruitment. Our results reveal a novel function of CPEB1 in mediating alternative 3'-UTR processing, which is coordinated with regulation of mRNA translation, through its dual nuclear and cytoplasmic functions.

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