http://hdl.handle.net/2268/144 Search this channel search http://orbi.ulg.ac.be/simple-search http://hdl.handle.net/2268/148614 Title: Computers As Genomic Time Machines for Meeting our Ancestors <br/> <br/>Author, co-author: Baurain, Denis Thu, 16 May 2013 19:40:36 GMT http://hdl.handle.net/2268/148613 Title: The African coelacanth genome provides insights into tetrapod evolution. <br/> <br/>Author, co-author: Amemiya, Chris T.; Alfoldi, Jessica; Lee, Alison P.; Fan, Shaohua; Philippe, Herve; Maccallum, Iain; Braasch, Ingo; Manousaki, Tereza; Schneider, Igor; Rohner, Nicolas; Organ, Chris; Chalopin, Domitille; Smith, Jeramiah J.; Robinson, Mark; Dorrington, Rosemary A.; Gerdol, Marco; Aken, Bronwen; Biscotti, Maria Assunta; Barucca, Marco; Baurain, Denis; Berlin, Aaron M.; Blatch, Gregory L.; Buonocore, Francesco; Burmester, Thorsten; Campbell, Michael S.; Canapa, Adriana; Cannon, John P.; Christoffels, Alan; De Moro, Gianluca; Edkins, Adrienne L.; Fan, Lin; Fausto, Anna Maria; Feiner, Nathalie; Forconi, Mariko; Gamieldien, Junaid; Gnerre, Sante; Gnirke, Andreas; Goldstone, Jared V.; Haerty, Wilfried; Hahn, Mark E.; Hesse, Uljana; Hoffmann, Steve; Johnson, Jeremy; Karchner, Sibel I.; Kuraku, Shigehiro; Lara, Marcia; Levin, Joshua Z.; Litman, Gary W.; Mauceli, Evan; Miyake, Tsutomu; Mueller, M. Gail; Nelson, David R.; Nitsche, Anne; Olmo, Ettore; Ota, Tatsuya; Pallavicini, Alberto; Panji, Sumir; Picone, Barbara; Ponting, Chris P.; Prohaska, Sonja J.; Przybylski, Dariusz; Saha, Nil Ratan; Ravi, Vydianathan; Ribeiro, Filipe J.; Sauka-Spengler, Tatjana; Scapigliati, Giuseppe; Searle, Stephen M. J.; Sharpe, Ted; Simakov, Oleg; Stadler, Peter F.; Stegeman, John J.; Sumiyama, Kenta; Tabbaa, Diana; Tafer, Hakim; Turner-Maier, Jason; van Heusden, Peter; White, Simon; Williams, Louise; Yandell, Mark; Brinkmann, Henner; Volff, Jean-Nicolas; Tabin, Clifford J.; Shubin, Neil; Schartl, Manfred; Jaffe, David B.; Postlethwait, John H.; Venkatesh, Byrappa; Di Palma, Federica; Lander, Eric S.; Meyer, Axel; Lindblad-Toh, Kerstin <br/> <br/>Abstract: The discovery of a living coelacanth specimen in 1938 was remarkable, as this lineage of lobe-finned fish was thought to have become extinct 70 million years ago. The modern coelacanth looks remarkably similar to many of its ancient relatives, and its evolutionary proximity to our own fish ancestors provides a glimpse of the fish that first walked on land. Here we report the genome sequence of the African coelacanth, Latimeria chalumnae. Through a phylogenomic analysis, we conclude that the lungfish, and not the coelacanth, is the closest living relative of tetrapods. Coelacanth protein-coding genes are significantly more slowly evolving than those of tetrapods, unlike other genomic features. Analyses of changes in genes and regulatory elements during the vertebrate adaptation to land highlight genes involved in immunity, nitrogen excretion and the development of fins, tail, ear, eye, brain and olfaction. Functional assays of enhancers involved in the fin-to-limb transition and in the emergence of extra-embryonic tissues show the importance of the coelacanth genome as a blueprint for understanding tetrapod evolution. Thu, 16 May 2013 19:34:12 GMT http://hdl.handle.net/2268/148076 Title: Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses. <br/> <br/>Author, co-author: Segers, Karin; Pierquin, Genevieve; Gaillez, Stephanie; Delbecque, Katty; Retz, Maria; Tebache, Malek; Waterham, Hans; Wanders, Ronald; Ferdinandusse, Sacha; DEBRAY, François-Guillaume Wed, 08 May 2013 10:05:20 GMT http://hdl.handle.net/2268/148040 Title: Kinetochore KMN network gene CASC5 mutated in primary microcephaly. <br/> <br/>Author, co-author: Genin, Anne; Desir, Julie; Lambert, Nelle; Biervliet, Martine; Van Der Aa, Nathalie; PIERQUIN, Geneviève; Killian, Audrey; Tosi, Mario; Urbina, Montse; Lefort, Anne; Libert, Frederick; Pirson, Isabelle; Abramowicz, Marc <br/> <br/>Abstract: Several genes expressed at the centrosome or spindle pole have been reported to underlie autosomal recessive primary microcephaly (MCPH), a neurodevelopmental disorder consisting of an important brain size reduction present since birth, associated with mild-to-moderate mental handicap and no other neurological feature nor associated malformation. Here, we report a mutation of CASC5 (aka Blinkin, or KNL1, or hSPC105) in MCPH patients from three consanguineous families, in one of which we initially reported the MCPH4 locus. The combined logarithm of odds score of the three families was >6. All patients shared a very rare homozygous mutation of CASC5. The mutation induced skipping of exon 18 with subsequent frameshift and truncation of the predicted protein. CASC5 is part of the KMN network of the kinetochore and is required for proper microtubule attachment to the chromosome centromere and for spindle-assembly checkpoint (SAC) activation during mitosis. Like MCPH gene ASPM, CASC5 is upregulated in the ventricular zone (VZ) of the human fetal brain. CASC5 binds BUB1, BUBR1, ZWINT-1 and interestingly it binds to MIS12 through a protein domain which is truncated by the mutation. CASC5 localized at the equatorial plate like ZWINT-1 and BUBR1, while ASPM, CEP152 and PCTN localized at the spindle poles in our patients and in controls. Comparison of primate and rodent lineages indicates accelerated evolution of CASC5 in the human lineage. Our data provide strong evidence for CASC5 as a novel MCPH gene, and underscore the role of kinetochore integrity in proper volumetric development of the human brain. Tue, 07 May 2013 20:53:57 GMT http://hdl.handle.net/2268/148014 Title: Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. <br/> <br/>Author, co-author: Lopez-Herrera, Gabriela; Tampella, Giacomo; Pan-Hammarstrom, Qiang; Herholz, Peer; Trujillo-Vargas, Claudia M.; Phadwal, Kanchan; Simon, Anna Katharina; Moutschen, Michel; Etzioni, Amos; Mory, Adi; Srugo, Izhak; Melamed, Doron; Hultenby, Kjell; Liu, Chonghai; Baronio, Manuela; Vitali, Massimiliano; Philippet, Pierre; DIDEBERG, Vinciane; Aghamohammadi, Asghar; Rezaei, Nima; Enright, Victoria; Du, Likun; Salzer, Ulrich; Eibel, Hermann; Pfeifer, Dietmar; Veelken, Hendrik; Stauss, Hans; Lougaris, Vassilios; Plebani, Alessandro; Gertz, E. Michael; Schaffer, Alejandro A.; Hammarstrom, Lennart; Grimbacher, Bodo <br/> <br/>Abstract: Most autosomal genetic causes of childhood-onset hypogammaglobulinemia are currently not well understood. Most affected individuals are simplex cases, but both autosomal-dominant and autosomal-recessive inheritance have been described. We performed genetic linkage analysis in consanguineous families affected by hypogammaglobulinemia. Four consanguineous families with childhood-onset humoral immune deficiency and features of autoimmunity shared genotype evidence for a linkage interval on chromosome 4q. Sequencing of positional candidate genes revealed that in each family, affected individuals had a distinct homozygous mutation in LRBA (lipopolysaccharide responsive beige-like anchor protein). All LRBA mutations segregated with the disease because homozygous individuals showed hypogammaglobulinemia and autoimmunity, whereas heterozygous individuals were healthy. These mutations were absent in healthy controls. Individuals with homozygous LRBA mutations had no LRBA, had disturbed B cell development, defective in vitro B cell activation, plasmablast formation, and immunoglobulin secretion, and had low proliferative responses. We conclude that mutations in LRBA cause an immune deficiency characterized by defects in B cell activation and autophagy and by susceptibility to apoptosis, all of which are associated with a clinical phenotype of hypogammaglobulinemia and autoimmunity. <br/> <br/>Commentary: Copyright (c) 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. Tue, 07 May 2013 11:16:52 GMT http://hdl.handle.net/2268/148014 Title: Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. <br/> <br/>Author, co-author: Lopez-Herrera, Gabriela; Tampella, Giacomo; Pan-Hammarstrom, Qiang; Herholz, Peer; Trujillo-Vargas, Claudia M.; Phadwal, Kanchan; Simon, Anna Katharina; Moutschen, Michel; Etzioni, Amos; Mory, Adi; Srugo, Izhak; Melamed, Doron; Hultenby, Kjell; Liu, Chonghai; Baronio, Manuela; Vitali, Massimiliano; Philippet, Pierre; DIDEBERG, Vinciane; Aghamohammadi, Asghar; Rezaei, Nima; Enright, Victoria; Du, Likun; Salzer, Ulrich; Eibel, Hermann; Pfeifer, Dietmar; Veelken, Hendrik; Stauss, Hans; Lougaris, Vassilios; Plebani, Alessandro; Gertz, E. Michael; Schaffer, Alejandro A.; Hammarstrom, Lennart; Grimbacher, Bodo <br/> <br/>Abstract: Most autosomal genetic causes of childhood-onset hypogammaglobulinemia are currently not well understood. Most affected individuals are simplex cases, but both autosomal-dominant and autosomal-recessive inheritance have been described. We performed genetic linkage analysis in consanguineous families affected by hypogammaglobulinemia. Four consanguineous families with childhood-onset humoral immune deficiency and features of autoimmunity shared genotype evidence for a linkage interval on chromosome 4q. Sequencing of positional candidate genes revealed that in each family, affected individuals had a distinct homozygous mutation in LRBA (lipopolysaccharide responsive beige-like anchor protein). All LRBA mutations segregated with the disease because homozygous individuals showed hypogammaglobulinemia and autoimmunity, whereas heterozygous individuals were healthy. These mutations were absent in healthy controls. Individuals with homozygous LRBA mutations had no LRBA, had disturbed B cell development, defective in vitro B cell activation, plasmablast formation, and immunoglobulin secretion, and had low proliferative responses. We conclude that mutations in LRBA cause an immune deficiency characterized by defects in B cell activation and autophagy and by susceptibility to apoptosis, all of which are associated with a clinical phenotype of hypogammaglobulinemia and autoimmunity. <br/> <br/>Commentary: Copyright (c) 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. Tue, 07 May 2013 11:16:52 GMT http://hdl.handle.net/2268/147993 Title: HTLV-1 positive and negative T cells cloned from infected individuals display telomerase and telomere genes deregulation that predominate in activated but untransformed CD4+ T cells. <br/> <br/>Author, co-author: Zane, Linda; Sibon, David; CAPRARO, Valérie; Galia, Perrine; Karam, Maroun; Delfau-Larue, Marie-Helene; Gilson, Eric; Gessain, Antoine; Gout, Olivier; Hermine, Olivier; Mortreux, Franck; Wattel, Eric <br/> <br/>Abstract: Untransformed HTLV-1 positive CD4(+) cells from infected individuals are selected for expressing tax and displaying morphological features consistent with telomere dysfunctions. We show that in resting HTLV-1 positive CD4(+) cells cloned from patients, hTERT expression parallels tax expression and cell cycling. Upon activation, these cells dramatically augment tax expression, whereas their increase in telomerase activity is about 20 times lower than that of their uninfected counterpart. Activated HTLV-1 positive CD4(+) but not uninfected CD4(+) or CD8(+) clones also repress the transcription of TRF1, TPP1, TANK1, POT1, DNA-PKc and Ku80. Both infected and uninfected lymphocytes from infected individuals shared common telomere gene deregulations toward a pattern consistent with premature senescence. ATLL cells displayed the highest telomerase activity (TA) whereas recovered a telomere gene transcriptome close to that of normal CD4(+) cells. In conclusion HTLV-1-dependent telomere modulations seem involved in clonal expansion, immunosuppression, tumor initiation and progression. <br/> <br/>Commentary: Copyright (c) 2012 UICC. Tue, 07 May 2013 07:57:26 GMT http://hdl.handle.net/2268/147826 Title: Contribution to the management of inherited disorders in Belgian Blue Cattle Breed <br/> <br/>Author, co-author: Sartelet, Arnaud Thu, 02 May 2013 19:58:59 GMT http://hdl.handle.net/2268/147800 Title: The transcription factor Egr1 in zebrafish cartilage development <br/> <br/>Author, co-author: Dalcq, Julia <br/> <br/>Abstract: The cartilaginous elements forming the pharyngeal arches of the zebrafish derive from cranial neural crest cells. Their proper differentiation and patterning are regulated by reciprocal interactions between neural crest cells and surrounding endodermal, ectodermal and mesodermal tissues. In this study, we show that the endodermal factors Runx3 and Sox9b form a regulatory cascade with Egr1 resulting in transcriptional repression of the fsta gene, encoding a BMP antagonist, in pharyngeal endoderm. Using a transgenic line expressing a dominant negative BMP receptor or a specific BMP inhibitor (dorsomorphin), we show that BMP signaling is indeed required around 30 hpf in the neural crest cells to allow cell differentiation and proper pharyngeal cartilage formation. Runx3, Egr1, Sox9b and BMP signaling are required for expression of runx2b, one of the key regulators of cranial cartilage maturation and bone formation. Finally, we show that egr1 depletion leads to increased expression of fsta and inhibition of BMP signaling in the pharyngeal region. In conclusion, we show that the successive induction of the transcription factors Runx3, Egr1 and Sox9b constitutes a regulatory cascade that controls expression of Follistatin A in pharyngeal endoderm, the latter modulating BMP signaling in developing cranial cartilage in zebrafish. Thu, 02 May 2013 11:56:39 GMT http://hdl.handle.net/2268/147130 Title: Estimation of dominance variance with sire-dam subclass effects in a crossbred population of pigs <br/> <br/>Author, co-author: Dufrasne, Marie; Jaspart, Véronique; Wavreille, José; Gengler, Nicolas Fri, 19 Apr 2013 07:33:39 GMT http://hdl.handle.net/2268/146940 Title: Genetic analysis of longitudinal measurements of feed intake in Piétrain sire lines <br/> <br/>Author, co-author: Dufrasne, Marie; Jaspart, Véronique; Wavreille, José; Gengler, Nicolas Tue, 16 Apr 2013 13:57:44 GMT http://hdl.handle.net/2268/146939 Title: Genetic analysis of pig survival in a crossbred population <br/> <br/>Author, co-author: Dufrasne, Marie; Misztal, Ignacy; Tsuruta, Shogo; Gray, Kent A.; Gengler, Nicolas Tue, 16 Apr 2013 13:49:37 GMT http://hdl.handle.net/2268/146424 Title: Sur la voie de l’élevage laitier de précision en Wallonie - 2. ValLait, OptiVal et OptiVal+ : valoriser des données du contrôle des performances <br/> <br/>Author, co-author: Bastin, Catherine; Gillon, A.; Abras, S.; Laloux, L.; Massart, X.; Bertozzi, C.; Gengler, Nicolas Tue, 09 Apr 2013 09:16:03 GMT http://hdl.handle.net/2268/146422 Title: Rapport d'activités final du premier mandat (du 1er janvier 2010 au 31 décembre 2011) : DairySNP, Etude de la variabilité génomique des bovins laitiers et mixtes en vue de mieux connaître leur biodiversité et d'initier une sélection génomique au sein de ces races <br/> <br/>Author, co-author: Thewis, André; Gengler, Nicolas; Bertozzi, Carlo; Colinet, Frédéric; Vanrobays, Marie-Laure; Faux, Pierre; Vandenplas, Jérémie; Gillon, Alain; Hubin, Xavier Tue, 09 Apr 2013 09:11:54 GMT http://hdl.handle.net/2268/146421 Title: Sur la voie de l’élevage laitier de précision en Wallonie - 2. ValLait, OptiVal et OptiVal+ : valoriser des données du contrôle des performances <br/> <br/>Author, co-author: Bastin, Catherine; Gillon, A.; Massart, X.; Bertozzi, C.; Gengler, Nicolas Tue, 09 Apr 2013 09:06:26 GMT http://hdl.handle.net/2268/146415 Title: Le BCS: un outil de gestion de la fertilité <br/> <br/>Author, co-author: Bastin, Catherine Tue, 09 Apr 2013 08:50:16 GMT http://hdl.handle.net/2268/146414 Title: NovaUdderHealth: Développement d’outils novateurs de suivi de la santé du pis basés sur des changements de la composition du lait (Premier rapport d’activités intermédiaire, second mandat, Octobre 2011 – Septembre 2012) <br/> <br/>Author, co-author: Bastin, Catherine; Thewis, André; Gengler, Nicolas Tue, 09 Apr 2013 08:46:57 GMT http://hdl.handle.net/2268/146412 Title: NovaUdderHealth: Développement d’outils novateurs de suivi de la santé du pis basés sur des changements de la composition du lait (Rapport d’activités final du premier mandat, Mars 2009 – Septembre 2011) <br/> <br/>Author, co-author: Bastin, Catherine; Gillon, A.; Soyeurt, Hélène; Vanderick, Sylvie; Vandenplas, Jérémie; Thewis, André; Gengler, Nicolas Tue, 09 Apr 2013 08:43:01 GMT http://hdl.handle.net/2268/146411 Title: METHAMILK 1: Aide à la diminution de la production de méthane des bovins laitiers au moyen d’une méthode précise et rapide d’estimation des émissions individuelles - Rapport de synthèse du 1er mandat (2009-2011) <br/> <br/>Author, co-author: Vanlierde, A.; Delfosse, C.; Froidmont, E.; Dehareng, F.; Hammida, M.; Romnée, J.-M.; Bastin, Catherine; Soyeurt, Hélène; Dardenne, P.; Bartiaux, N.; Gengler, Nicolas Tue, 09 Apr 2013 08:36:12 GMT http://hdl.handle.net/2268/146407 Title: Rapport d'activités final du premier mandat (du 1er février 2011 au 31 janvier 2013) : ProFARMilk, variabilité et amélioration des aptitudes à la transformation fermière du lait <br/> <br/>Author, co-author: Gengler, Nicolas; Sindic, Marianne; Dardenne, Pierre; Colinet, Frédéric; Vanden Bossche, Sandrine; Troch, Thibault; Sinnaeve, Georges; Dehareng, Frédéric; Abbas, Ouissam; Baeten, Vincent Tue, 09 Apr 2013 08:17:05 GMT