Mutagenesis of plants overexpressing CONSTANS demonstrates novel interactions among Arabidopsis flowering-time genes.
; ; Périlleux, Claire et al
in Plant Cell (2000), 12(6), 885-900
CONSTANS (CO) promotes flowering of Arabidopsis in response to long photoperiods. Transgenic plants carrying CO fused with the cauliflower mosaic virus 35S promoter (35S::CO) flowered earlier than did the ... [more ▼]
CONSTANS (CO) promotes flowering of Arabidopsis in response to long photoperiods. Transgenic plants carrying CO fused with the cauliflower mosaic virus 35S promoter (35S::CO) flowered earlier than did the wild type and were almost completely insensitive to length of day. Genes required for CO to promote flowering were identified by screening for mutations that suppress the effect of 35S::CO. Four mutations were identified that partially suppressed the early-flowering phenotype caused by 35S::CO. One of these mutations, suppressor of overexpression of CO 1 (soc1), defines a new locus, demonstrating that the mutagenesis approach is effective in identifying novel flowering-time mutations. The other three suppressor mutations are allelic with previously described mutations that cause late flowering. Two of them are alleles of ft, indicating that FT is required for CO to promote early flowering and most likely acts after CO in the hierarchy of flowering-time genes. The fourth suppressor mutation is an allele of fwa, and fwa soc1 35S::CO plants flowered at approximately the same time as co mutants, suggesting that a combination of fwa and soc1 abolishes the promotion of flowering by CO. Besides delaying flowering, fwa acted synergistically with 35S::CO to repress floral development after bolting. The latter phenotype was not shown by any of the progenitors and was most probably caused by a reduction in the function of LEAFY. These genetic interactions suggest models for how CO, FWA, FT, and SOC1 interact during the transition to flowering. [less ▲]Detailed reference viewed: 18 (0 ULg)
Mutan produced in potato amyloplasts adheres to starch granules
in Plant Biotechnology Journal (2005), 3
Production of water-insoluble mutan polymers in Kardal potato tubers was investigated after expression of a full-length (Gtf I) and a truncated mutansucrase gene referred to as GtfICAT (Gtf I without ... [more ▼]
Production of water-insoluble mutan polymers in Kardal potato tubers was investigated after expression of a full-length (Gtf I) and a truncated mutansucrase gene referred to as GtfICAT (Gtf I without glucan-binding domain) from Streptococcus downei. Subsequent effects on starch biosynthesis at the molecular and biochemical levels were studied. Expression of the GtfICAT gene resulted in the adhesion of mutan material on starch granules, which stained red with erythrosine, and which was hydrolysed by exo-mutanase. In addition, GtfICAT-expressing plants exhibited a severely altered tuber phenotype and starch granule morphology in comparison to those expressing the full-length Gtf I gene. In spite of that, no structural changes at the starch level were observed. Expression levels of the sucrose- regulated, AGPase and GBSSI genes were down-regulated in only the GTFICAT transformants, showing that GtfICAT expression interfered with the starch biosynthetic pathway. In accordance with the down-regulated AGPase gene, a lower starch content was observed in the GTFICAT transformants. Finally, the rheological properties of the GTFICAT starches were modified; they showed a higher retrogradation during cooling of the starch paste. [less ▲]Detailed reference viewed: 15 (3 ULg)
Mutant and chimeric recombinant plasminogen activators. Production in eukaryotic cells and preliminary characterization.
Pierard, Luc ; ; et al
in The Journal of biological chemistry (1987), 262(24), 11771-8
Mutant urokinase-type plasminogen activator (u-PA) genes and hybrid genes between tissue-type plasminogen activator (t-PA) and u-PA have been designed to direct the synthesis of new plasminogen activators ... [more ▼]
Mutant urokinase-type plasminogen activator (u-PA) genes and hybrid genes between tissue-type plasminogen activator (t-PA) and u-PA have been designed to direct the synthesis of new plasminogen activators and to investigate the structure-function relationship in these molecules. The following classes of constructs were made starting from cDNA encoding human t-PA or u-PA: 1) u-PA mutants in which the Arg156 and Lys158 were substituted with threonine, thus preventing cleavage by thrombin and plasmin; 2) hybrid molecules in which the NH2-terminal regions of t-PA (amino acid residues 1-67, 1-262, or 1-313) were fused with the COOH-terminal region of u-PA (amino acids 136-411, 139-411, or 195-411, respectively); and 3) a hybrid molecule in which the second kringle of t-PA (amino acids 173-262) was inserted between amino acids 130 and 139 of u-PA. In all cases but one, the recombinant proteins, produced by transfected eukaryotic cells, were efficiently secreted in the culture medium. The translation products have been tested for their ability to activate plasminogen after in situ binding to an insolubilized monoclonal antibody directed against urokinase. All recombinant enzymes were shown to be active, except those in which Lys158 of u-PA was substituted with threonine. Recombination of structural regions derived from t-PA, such as the finger, the kringle 2, or most of the A-chain sequences, with the protease part or the complete u-PA molecule did not impair the catalytic activity of the hybrid polypeptides. This observation supports the hypothesis that structural domains in t-PA and u-PA fold independently from one to another. [less ▲]Detailed reference viewed: 8 (0 ULg)
Mutant huntingtin-impaired degradation of beta-catenin causes neurotoxicity in Huntington's disease.
Godin, Juliette ; ; et al
in EMBO Journal (2010), 29(14)Detailed reference viewed: 7 (0 ULg)
Mutants of Chlamydomonas reinhardtii deficient in mitochondrial complex I: Characterization of two mutations affecting the nd1 coding sequence
Remacle, Claire ; Baurain, Denis ; Cardol, Pierre et al
in Genetics (2001), 158(3), 1051-60
The mitochondrial rotenone-sensitive NADH:ubiquinone oxidoreductase (complex I) comprises more than 30 subunits, the majority of which are encoded by the nucleus. In Chlamydomonas reinhardtii, only five ... [more ▼]
The mitochondrial rotenone-sensitive NADH:ubiquinone oxidoreductase (complex I) comprises more than 30 subunits, the majority of which are encoded by the nucleus. In Chlamydomonas reinhardtii, only five components of complex I are coded for by mitochondrial genes. Three mutants deprived of complex I activity and displaying slow growth in the dark were isolated after mutagenic treatment with acriflavine. A genetical analysis demonstrated that two mutations (dum20 and dum25) affect the mitochondrial genome whereas the third mutation (dn26) is of nuclear origin. Recombinational analyses showed that dum20 and dum25 are closely linked on the genetic map of the mitochondrial genome and could affect the nd1 gene. A sequencing analysis confirmed this conclusion: dum20 is a deletion of one T at codon 243 of nd1; dum25 corresponds to a 6-bp deletion that eliminates two amino acids located in a very conserved hydrophilic segment of the protein. [less ▲]Detailed reference viewed: 11 (6 ULg)
Mutants, revenants, cyborgs et surhommes. L’homme de demain entre littérature, bande dessinée et cinéma
Scientific conference (2013, December 12)Detailed reference viewed: 35 (5 ULg)
Mutation analysis of coding sequences for type I procollagen in individuals with low bone density.
; Colige, Alain ; et al
in Journal of Bone and Mineral Research (1994), 9(6), 923-32
Mutations in one of the two genes encoding type I procollagen (COL1A1 and COL1A2) are frequently the cause of osteogenesis imperfecta (OI), a disorder characterized by brittle bones. Here we tested ... [more ▼]
Mutations in one of the two genes encoding type I procollagen (COL1A1 and COL1A2) are frequently the cause of osteogenesis imperfecta (OI), a disorder characterized by brittle bones. Here we tested whether patients with low bone density also have mutations in these genes. The 26 patients studied had no apparent metabolic bone disease, but most had a positive family history of osteopenia or osteoporosis. Although a diagnosis of OI was considered by the clinician in some cases, the clinical criteria for OI were not satisfied. Our strategy for mutation analysis consisted of PCR amplification of cDNA made to fibroblast mRNA using primers specific for the coding regions of COL1A1 and COL1A2. The PCR products were then sequenced directly with primers located within each PCR product. We found that 3 of 26 patients had mutations that altered the encoded amino acid. One mutation, at position alpha 2(I)-661 has been reported (Spotila et al. 1991 Proc Natl Acad Sci USA PNAS 88:5423). The other 2 patients, who were not related to each other, had a mutation that altered the proline codon at alpha 1(I)-27 to alanine. This mutation was not found in 81 normal individuals or in 37 additional osteopenic individuals. However, its effect on the biologic function of type I collagen, as well as its role in osteopenia, is uncertain. In addition to the two mutations, we found a polymorphism in codon alpha 2(I)-459. Although this polymorphism involved an amino acid substitution, it was present with equal frequency in the patient and the normal population. By analyzing this and previously reported neutral sequence variants in the COL1A2 gene, we determined that all patients expressed both alleles of the COL1A2 gene. The 12 patients who were heterozygous for a COL1A1 neutral sequence variant also expressed both alleles. Here we present all PCR primer and sequencing primer information. The results suggest that surveying a larger group of similarly selected individuals may reveal additional mutations in the COL1A1 or COL1A2 genes. [less ▲]Detailed reference viewed: 15 (4 ULg)
Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases.
Poncin, Jacques ; ; et al
in Human Mutation (1999), 13(1), 54-60
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in parathyroids, enteropancreatic endocrine tissues, anterior pituitary, and other tissues. The gene ... [more ▼]
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in parathyroids, enteropancreatic endocrine tissues, anterior pituitary, and other tissues. The gene for MEN1 has recently been cloned and shown to code for a 610-amino acid protein of enigmatic function which probably acts as a tumor suppressor. Several mutations causing the MEN1 phenotype have been recently identified. In order to determine the spectrum of MEN1 gene mutations in a sample of 25 Belgian patients, we have systematically screened the 10 exons and adjacent sequences of the MEN1 gene by means of an automatic sequencing protocol. Twelve different mutations were identified including nonsense, frameshift, splicing, and missense mutations. Two of these mutations (D172Y and 357del4) occurred more than once. A missense mutation was also found in a kindred with familial hyperparathyroidism. We observed no significant correlation between the nature or position of mutation and the clinical status. We have also detected 6 intragenic polymorphisms and DNA sequence variants and have analyzed their frequencies in our population. [less ▲]Detailed reference viewed: 22 (8 ULg)
Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type I and related diseases
Poncin, Jacques ; ; et al
in IV european Congress of Endocrinology - Abstract book (1998)Detailed reference viewed: 4 (0 ULg)
Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type I and related diseases
Poncin, Jacques ; ; et al
in 5th Euroregional Oncology meeting - abstract book (1998)Detailed reference viewed: 1 (0 ULg)
Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism.
; ; et al
in Journal of Clinical Endocrinology and Metabolism (1998), 83(8), 2621-2626
Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant disease characterized by neoplasia of the parathyroid glands, the endocrine pancreas, and the anterior pituitary gland. In addition ... [more ▼]
Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant disease characterized by neoplasia of the parathyroid glands, the endocrine pancreas, and the anterior pituitary gland. In addition, families with isolated endocrine neoplasia, notably familial isolated hyperparathyroidism (FIHP) and familial acromegaly, have also been reported. However, whether these families constitute MEN 1 variants or separate entities remains speculative as the genetic bases for these diseases are unclear. The gene for MEN 1 has recently been cloned and characterized. Using single strand conformation analysis (SSCA) and sequencing, we performed mutation analysis in: a) a total of 55 MEN 1 families from 7 countries, b) 13 isolated MEN 1 cases without family history of the disease, c) 8 acromegaly families, and d) 4 FIHP families. Mutations were identified in 27 MEN 1 families and 9 isolated cases. The 22 different mutations spread across most of the 9 translated exons and included frameshift (11), nonsense (6), splice (2), missense mutations (2), and in-frame deletions (1). Among the 19 Finnish MEN 1 probands, a 1466del12 mutation was identified in 6 families with identical 11q13 haplotypes and in 2 isolated cases indicating a common founder. One frameshift mutation caused by 359del4 (GTCT) was found in 1 isolated case and 4 kindreds of different origin and haplotypes; this mutation therefore represents a common "warm" spot in the MEN1 gene. By analyzing the DNA of the parents of an isolated case one mutation was confirmed to be de novo. No mutation was found in any of the acromegaly and small FIHP families, suggesting that genetic defects other than the MEN1 gene might be involved and that additional such families need to be analyzed. [less ▲]Detailed reference viewed: 71 (5 ULg)
Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.
; ; et al
in Human mutation (1996), 7(1), 46-51
Most of the mutations causing deficiency of the pyruvate dehydrogenase (PDH) complex are in the X-linked E1 alpha gene. We have developed a rapid screening method for the detection of mutations in this ... [more ▼]
Most of the mutations causing deficiency of the pyruvate dehydrogenase (PDH) complex are in the X-linked E1 alpha gene. We have developed a rapid screening method for the detection of mutations in this gene using reverse transcription of total RNA, polymerase chain reaction amplification of the whole coding region of the gene and single-strand conformation polymorphism (SSCP) analysis. With this method, we studied eight patients with a PDH complex deficiency, using cultured fibroblasts. In all patients, aberrant SSCP patterns were found and, after sequencing of the corresponding fragments, we were able to identify six new mutations and two mutations already described previously. The mutations are point mutations leading to amino acid substitutions (5) and direct repeat insertions (3). The presence of the mutations was confirmed in genomic fibroblast DNA. The 4 female patients were shown to carry both a normal and a mutated E1 alpha gene. [less ▲]Detailed reference viewed: 5 (2 ULg)
A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheep.
; Marcq, Fabienne ; Takeda, Haruko et al
in Nature Genetics (2006), 38(7), 813-8
Texel sheep are renowned for their exceptional meatiness. To identify the genes underlying this economically important feature, we performed a whole-genome scan in a Romanov x Texel F2 population. We ... [more ▼]
Texel sheep are renowned for their exceptional meatiness. To identify the genes underlying this economically important feature, we performed a whole-genome scan in a Romanov x Texel F2 population. We mapped a quantitative trait locus with a major effect on muscle mass to chromosome 2 and subsequently fine-mapped it to a chromosome interval encompassing the myostatin (GDF8) gene. We herein demonstrate that the GDF8 allele of Texel sheep is characterized by a G to A transition in the 3' UTR that creates a target site for mir1 and mir206, microRNAs (miRNAs) that are highly expressed in skeletal muscle. This causes translational inhibition of the myostatin gene and hence contributes to the muscular hypertrophy of Texel sheep. Analysis of SNP databases for humans and mice demonstrates that mutations creating or destroying putative miRNA target sites are abundant and might be important effectors of phenotypic variation. [less ▲]Detailed reference viewed: 49 (6 ULg)
Mutation des systèmes partisans et résultats électoraux : Proportion congrue et gouvernabilité
in Matagne, Geoffroy; Beaufays, Jean (Eds.) La Belgique en mutation : Systèmes politiques et politiques publiques (1968-2008) (2009)Detailed reference viewed: 55 (4 ULg)
Mutation douce de l'enseignant en concepteur-tuteur dans des activités d'apprentissage totalement à distance. Communication présentée au Colloque TICE Méditérannée, Nice
Vandeput, Etienne ; Denis, Brigitte
in Actes du colloque TICE Méditérannée (en ligne) (2004, November 26)
Experts in education and communication technology cannot speak about distance learning without calling up the new roles it springs up and the new relationships it generates. Its detractors claim that ... [more ▼]
Experts in education and communication technology cannot speak about distance learning without calling up the new roles it springs up and the new relationships it generates. Its detractors claim that, under these new conditions, this kind of learning requires significant and expansive means unlike a more classical one. Instead of giving up in front of such disheartening elements, the authors have been trying to measure how far a simple distance learning system (i.e. with little human, hardware and software means) can be implemented. In that way, they have been creating a learning environment basically based on a mixture of individual and collaborative works. Owing to both this mixture and the organization structure, the students can reach the fixed learning goals. Through these processes, they try to isolate practices, learners or teaching staff should be inspired by. They should, in that way, evolve slightly from a classical context to the design of learning scripts including efficient tutoring in a distance context. The course described in this paper is called “Analysis of distance learning environments”. The public consists of adults having enrolled for a DES in Education and Training Technology. To conduct this experiment, the authors have been setting themselves some rules and constraints in order to derive a general process that might be applied to various situations. These rules and constraints are very close to the usual learner’s working constraints. Recommendations focus on practices including careful preparation, coordination techniques betweenteachers and learner’s initiation into reflexivity. [less ▲]Detailed reference viewed: 54 (11 ULg)
Mutation du Gene de la Myostatine à l'origine de l'hypertrophie muscumaire chez les mammifères
Grobet, Luc ; Georges, Michel ;
Patent (1999)Detailed reference viewed: 12 (1 ULg)
Mutation in exon 5 of bovine prolactin gene is not associated with milk traits in Holstein bulls.
; Gengler, Nicolas ; et al
in ASAS/ADSA Joint Meeting (2000, July)Detailed reference viewed: 10 (0 ULg)