Jean Weissenbach

The Eukaryote Genome Annotation Platform at Genoscope (2009)

Betina M. Porcel, Franck Aniere, Sylvain Bonneval, Benjamin Noel, Jean-Marc Aury, Corinne Da Silva, ...

The Genoscope annotation workflow for eukaryote genomes relies on evidence from ab initio gene models predictions combined with homology searches, using collections of expressed sequences - full...

ARTICLE An STS-Based Map of the Human Genome (2008)

Thomas J. Hudson, Lincoln D. Stein, Sebastian S. Gerety, Junli Ma, Andrew B. Castle, ...

A physical map has been constructed of the human genome containing 15,086 sequence-tagged sites (STSs), with an average spacing of 199 kilobases. The project involved assembly of a radiation hybrid...

Iterative reconstruction of a global metabolic model of Acinetobacter baylyiADP1 using high-throughput growth phenotype and gene essentiality data (2008)

Durot, Maxime, Le Fèvre, François, De Berardinis, Véronique, Kreimeyer, Annett, Vallenet, David, Combe, Cyril, ...

Abstract Background Genome-scale metabolic models are powerful tools to study global properties of metabolic networks. They provide a way to integrate various types of biological information in a...

Genome sequence of the metazoan plant-parasitic nematode Meloidogyne incognita (2008)

Abad, Pierre, Gouzy, Jerome, Aury, Jean-Marc, Castagnone-Sereno, Philippe, Danchin, Etienne G. J., Deleury, Emeline, ...

© 2008 Nature Publishing Group. This article is distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike license. The definitive version was published in Nature...

Extending the cereus group genomics to putative food-borne pathogens of different toxicity (2008)

Lapidus, Alla, Goltsman, Eugene, Auger, Sandrine, Galleron, Nathalie, Segurens, Beatrice, Dossat, Carole, ...

The cereus group represents sporulating soil bacteria containing pathogenic strains which may cause diarrheic or emetic food poisoning outbreaks. Multiple locus sequence typing revealed a presence in...

The genome sequence of the model ascomycete fungus Podospora anserina (2008)

Espagne, Eric, Lespinet, Olivier, Malagnac, Fabienne, Da Silva, Corinne, Jaillon, Olivier, Porcel, Betina M, ...

Abstract Background The dung-inhabiting ascomycete fungus Podospora anserina is a model used to study various aspects of eukaryotic and fungal biology, such as ageing, prions and sexual development....

Exploring nervous system transcriptomes during embryogenesis and metamorphosis in Xenopus tropicalis using EST analysis (2007)

Fierro, Ana C, Thuret, Raphaël, Coen, Laurent, Perron, Muriel, Demeneix, Barbara A, Wegnez, Maurice, ...

Xenopus tropicalis is an anuran amphibian species used as model in vertebrate comparative genomics. It provides the same advantages as Xenopus laevis but is diploid and has a smaller genome of 1.7...

Exploring nervous system transcriptomes during embryogenesis and metamorphosis in Xenopus tropicalisusing EST analysis (2007)

Fierro, Ana C, Thuret, Raphaël, Coen, Laurent, Perron, Muriel, Demeneix, Barbara A, Wegnez, Maurice, ...

Abstract Background The western African clawed frog Xenopus tropicalis is an anuran amphibian species now used as model in vertebrate comparative genomics. It provides the same advantages as Xenopus...

A Tale of Two Oxidation States: Bacterial Colonization of Arsenic-Rich Environments (2007)

Daniel Muller, Claudine Médigue, Sandrine Koechler, Valérie Barbe, Mohamed Barakat, Emmanuel Talla, ...

Microbial biotransformations have a major impact on contamination by toxic elements, which threatens public health in developing and industrial countries. Finding a means of preserving natural...

A Tale of Two Oxidation States: Bacterial Colonization of Arsenic-Rich Environments (2007)

Daniel Muller, Claudine Médigue, Sandrine Koechler, Valérie Barbe, Mohamed Barakat, Emmanuel Talla, ...

Microbial biotransformations have a major impact on the contamination by toxic elements, threatening public health in developing and industrial countries. Finding means of preserving natural...

Exploring nervous system transcriptomes during embryogenesis and metamorphosis in Xenopus tropicalis using EST analysis. (2007)

Fierro, Ana C, Thuret, Raphaël, Coen, Laurent, Perron, Muriel, Demeneix, Barbara A, Wegnez, Maurice, ...

Xenopus tropicalis is an anuran amphibian species used as model in vertebrate comparative genomics. It provides the same advantages as Xenopus laevis but is diploid and has a smaller genome of 1.7...

Exploring nervous system transcriptomes during embryogenesis and metamorphosis in Xenopus tropicalis using EST analysis. (2007)

Fierro, Ana C, Thuret, Raphaël, Coen, Laurent, Perron, Muriel, Demeneix, Barbara A, Wegnez, Maurice, ...

Xenopus tropicalis is an anuran amphibian species used as model in vertebrate comparative genomics. It provides the same advantages as Xenopus laevis but is diploid and has a smaller genome of 1.7...

A tale of two oxidation states: bacterial colonization of arsenic-rich environments. (2007)

Muller, Daniel, Médigue, Claudine, Koechler, Sandrine, Barbe, Valérie, Barakat, Mohamed, Talla, Emmanuel, ...

Microbial biotransformations have a major impact on contamination by toxic elements, which threatens public health in developing and industrial countries. Finding a means of preserving natural...

A tale of two oxidation states: bacterial colonization of arsenic-rich environments. (2007)

Muller, Daniel, Médigue, Claudine, Koechler, Sandrine, Barbe, Valérie, Barakat, Mohamed, Talla, Emmanuel, ...

Microbial biotransformations have a major impact on contamination by toxic elements, which threatens public health in developing and industrial countries. Finding a means of preserving natural...

Comparative Genomics of Multidrug Resistance in Acinetobacter baumannii (2006)

Pierre-Edouard Fournier, David Vallenet, Valérie Barbe, Stéphane Audic, Hiroyuki Ogata, Laurent Poirel, ...

Acinetobacter baumannii is a species of nonfermentative gram-negative bacteria commonly found in water and soil. This organism was susceptible to most antibiotics in the 1970s. It has now become a...

ASEtrap: A biological method for speeding up the exploration of spliceomes (2006)

Thill, Gilbert, Castelli, Vanina, Pallud, Sophie, Salanoubat, Marcel, Wincker, Patrick, De La Grange, Pierre, ...

Alternative splicing (AS) of pre-messenger RNA is a major mechanism for generating protein diversity from a limited number of genes in higher eukaryotes, and it constitutes a central mode of genetic...

ASEtrap: A biological method for speeding up the exploration of spliceomes (2006)

Thill, Gilbert, Castelli, Vanina, Pallud, Sophie, Salanoubat, Marcel, Wincker, Patrick, De La Grange, Pierre, ...

Alternative splicing (AS) of pre-messenger RNA is a major mechanism for generating protein diversity from a limited number of genes in higher eukaryotes, and it constitutes a central mode of genetic...

Pilot Anopheles gambiaefull-length cDNA study: sequencing and initial characterization of 35,575 clones (2005)

Gomez, Shawn M, Eiglmeier, Karin, Segurens, Beatrice, Dehoux, Pierre, Couloux, Arnaud, Scarpelli, Claude, ...

Abstract We describe the preliminary analysis of over 35,000 clones from a full-length enriched cDNA library from the malaria mosquito vector Anopheles gambiae . The clones define nearly 3,700 genes,...

Remodelling of the homeobox gene complement in the tunicate Oikopleura dioica (2005)

Edvardsen, Rolf B., Seo, Hee-Chan, Jensen, Marit F., Mialon, Antoine, Mikhaleva, Jana, Bjordal, Marianne, ...

Homeodomain transcription factors are involved in many developmental processes [1] and have been intensely studied in a few model organisms, such as mouse, Drosophila and Caenorhabditis elegans....

Fish genomics and biology (2005)

Roest Crollius, Hugues, Weissenbach, Jean

The last common ancestor between fish and mammals dates back to the very origin of the vertebrate lineage and today, half of modern vertebrates are fish. It is thus not surprising that several fish...

Hox cluster disintegration with persistent anteroposterior order of expression in Oikopleura dioica (2004)

Seo,Hee-Chan, Edvardsen,Rolf Brudvik, Maeland,Anne Dorthea, Bjordal,Marianne, Jensen,Marit Flo, Hansen,Anette, ...

Tunicate embryos and larvae have small cell numbers and simple anatomical features in comparison with other chordates, including vertebrates. Although they branch near the base of chordate...

Hox cluster disintegration with persistent anteroposterior order of expression in Oikopleura dioica (2004)

Seo, Hee-Chan, Edvardsen, Rolf Brudvik, Maeland, Anne Dorthea, Bjordal, Marianne, Jensen, Marit Flo, Hansen, Anette, ...

Tunicate embryos and larvae have small cell numbers and simple anatomical features in comparison with other chordates, including vertebrates. Although they branch near the base of chordate...

Whole Genome Sequence Comparisons and "Full-Length" cDNA Sequences: A Combined Approach to Evaluate and Improve Arabidopsis Genome Annotation (2004)

Castelli, Vanina, Aury, Jean-Marc, Jaillon, Olivier, Wincker, Patrick, Clepet, Christian, Menard, Manuella, ...

To evaluate the existing annotation of the Arabidopsis genome further, we generated a collection of evolutionary conserved regions (ecores) between Arabidopsis and rice. The ecore analysis provides...

Numerous Novel Annotations of the Human Genome Sequence Supported by a 5'-End-Enriched cDNA Collection (2004)

Porcel, Betina M., Delfour, Olivier, Castelli, Vanina, De Berardinis, Veronique, Friedlander, Lucie, Cruaud, Corinne, ...

A collection of 90,000 human cDNA clones generated to increase the fraction of “full-length” cDNAs available was analyzed by sequence alignment on the human genome assembly. Five hundred...

Numerous Novel Annotations of the Human Genome Sequence Supported by a 5'-End-Enriched cDNA Collection (2004)

Porcel, Betina M., Delfour, Olivier, Castelli, Vanina, De Berardinis, Veronique, Friedlander, Lucie, Cruaud, Corinne, ...

A collection of 90,000 human cDNA clones generated to increase the fraction of “full-length” cDNAs available was analyzed by sequence alignment on the human genome assembly. Five hundred...

Unique features revealed by the genome sequence of Acinetobacter sp. ADP1, a versatile and naturally transformation competent bacterium (2004)

Barbe, Valérie, Vallenet, David, Fonknechten, Nuria, Kreimeyer, Annett, Oztas, Sophie, Labarre, Laurent, ...

Acinetobacter sp. strain ADP1 is a nutritionally versatile soil bacterium closely related to representatives of the well-characterized Pseudomonas aeruginosa and Pseudomonas putida. Unlike these...

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2 (2003)

Lefèvre, Caroline, Audebert, Stéphanie, Jobard, Florence, Bouadjar, Bakar, Lakhdar, Hakima, Boughdene-Stambouli, Omar, ...

Lamellar ichthyosis type 2 (LI2) is a rare autosomal recessive skin disorder for which a gene has been previously localized on chromosome 2q33-35. We report the identification of five missense...

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2 (2003)

Lefèvre, Caroline, Audebert, Stéphanie, Jobard, Florence, Bouadjar, Bakar, Lakhdar, Hakima, Boughdene-Stambouli, Omar, ...

Lamellar ichthyosis type 2 (LI2) is a rare autosomal recessive skin disorder for which a gene has been localized on chromosome 2q33–35. We report the identification of five missense mutations in...

Assessing the Drosophila melanogaster and Anopheles gambiae Genome Annotations Using Genome-Wide Sequence Comparisons (2003)

Jaillon, Olivier, Dossat, Carole, Eckenberg, Ralph, Eiglmeier, Karin, Segurens, Béatrice, Aury, Jean-Marc, ...

We performed genome-wide sequence comparisons at the protein coding level between the genome sequences of Drosophila melanogaster and Anopheles gambiae. Such comparisons detect evolutionarily...

An Active Non-LTR Retrotransposon With Tandem Structure in the Compact Genome of the Pufferfish Tetraodon nigroviridis (2003)

Bouneau, Laurence, Fischer, Cécile, Ozouf-Costaz, Catherine, Froschauer, Alexander, Jaillon, Olivier, Coutanceau, Jean-Pierre, ...

The fish retrotransposable element Zebulon encodes a reverse transcriptase and a carboxy-terminal restriction enzyme-like endonuclease, and is related phylogenetically to site-specific non-LTR...

An Active Non-LTR Retrotransposon With Tandem Structure in the Compact Genome of the Pufferfish Tetraodon nigroviridis (2003)

Bouneau, Laurence, Fischer, Cécile, Ozouf-Costaz, Catherine, Froschauer, Alexander, Jaillon, Olivier, Coutanceau, Jean-Pierre, ...

The fish retrotransposable element Zebulon encodes a reverse transcriptase and a carboxy-terminal restriction enzyme-like endonuclease, and is related phylogenetically to site-specific non-LTR...

Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome (2003)

Jobard, Florence, Bouadjar, Bakar, Caux, Frédéric, Hadj-Rabia, Smail, Has, Christina, Matsuda, Fumi, ...

Kindler syndrome is a rare autosomal-recessive genodermatosis characterized by bullous poikiloderma with photosensitivity. We report the localization to chromosome 20p12.3 by homozygosity mapping and...

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2 (2003)

Lefèvre, Caroline, Audebert, Stéphanie, Jobard, Florence, Bouadjar, Bakar, Lakhdar, Hakima, Boughdene-Stambouli, Omar, ...

Lamellar ichthyosis type 2 (LI2) is a rare autosomal recessive skin disorder for which a gene has been previously localized on chromosome 2q33-35. We report the identification of five missense...

Four-Hundred Million Years of Conserved Synteny of Human Xp and Xq Genes on Three Tetraodon Chromosomes (2002)

Grützner,Frank, Roest Crollius,Hugues, Lütjens,Götz, Jaillon,Olivier, Weissenbach,Jean, Ropers,Hans Hilger, ...

The freshwater pufferfish Tetraodon nigroviridis (TNI) has become highly attractive as a compact reference vertebrate genome for gene finding and validation. We have mapped genes, which are more or...

Four-Hundred Million Years of Conserved Synteny of Human Xp and Xq Genes on Three Tetraodon Chromosomes (2002)

Grützner, Frank, Roest Crollius, Hugues, Lütjens, Götz, Jaillon, Olivier, Weissenbach, Jean, Ropers, Hans Hilger, ...

The freshwater pufferfish Tetraodon nigroviridis (TNI) has become highly attractive as a compact reference vertebrate genome for gene finding and validation. We have mapped genes, which are more or...

Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes (2002)

De Lonlay, Pascale, Mugnier, Claude, Sanlaville, Damien, Chantrel-Groussard, Karine, Bénit, Paule, Lebon, Sophie, ...

The mapping and identification of respiratory chain deficiency genes is particularly tedious owing to the large number of genes encoding catalytic subunits and involved in respiratory chain (RC)...

Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1 (2002)

Jobard, Florence, Lefèvre, Caroline, Karaduman, Aysen, Blanchet-Bardon, Claudine, Emre, Serap, Weissenbach, Jean, ...

We report the identification of mutations in lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) genes in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17....

Mutations in the gene encoding SLURP-1 in Mal de Meleda (2001)

Fischer, Judith, Bouadjar, Bakar, Heilig, Roland, Huber, Marcel, Lefèvre, Caroline, Jobard, Florence, ...

Mal de Meleda (MDM) is a rare autosomal recessive skin disorder, characterized by transgressive palmoplantar keratoderma (PPK), keratotic skin lesions, perioral erythema, brachydactyly and nail...

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia (2000)

Fonknechten, Nùria, Mavel, Delphine, Byrne, Paula, Davoine, Claire-Sophie, Cruaud, Corinne, Boentsch, Dominikus, ...

Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a group of genetically heterogeneous neurodegenerative disorders characterized by pro‐ gressive spasticity of the lower limbs. Five...

Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2. (1996)

Collod, Gwenaëlle, Chu, Mon-Li, Sasaki, Takako, Coulon, Monique, Timpl, Ruppert, Renkart, Loretta, ...

Fibulin-2 (FBLN2) is a new extracellular matrix protein that has been considered a candidate gene for Marfan syndrome type 2 (locus MFS2) based on chromosomal colocation at 3p24.2-p25 and disease...

Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2. (1996)

Collod, Gwenaëlle, Chu, Mon-Li, Sasaki, Takako, Coulon, Monique, Timpl, Ruppert, Renkart, Loretta, ...

Fibulin-2 (FBLN2) is a new extracellular matrix protein that has been considered a candidate gene for Marfan syndrome type 2 (locus MFS2) based on chromosomal colocation at 3p24.2-p25 and disease...

A radiation hybrid map of the human genome (1996)

Gabor Gyapay, Karin Schmitt, Cécile Fizames, Hywel Jones, Nathalie Vega-czarny, Dominique Spillett, ...

We have developed a panel of whole-genome radiation hybrids by fusing irradiated diploid human fibroblasts with recipient hamster cells. This panel of 168 cell lines has been typed with...

Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2. (1996)

Collod, Gwenaëlle, Chu, Mon-Li, Sasaki, Takako, Coulon, Monique, Timpl, Ruppert, Renkart, Loretta, ...

Fibulin-2 (FBLN2) is a new extracellular matrix protein that has been considered a candidate gene for Marfan syndrome type 2 (locus MFS2) based on chromosomal colocation at 3p24.2-p25 and disease...

The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac {alpha} and {beta} myosin heavy chain genes on chromosome 14q11.2-q13 (1995)

Brais, Bernard, Xie, Ya-Gang, Sanson, Marc, Morgan, Kenneth, Weissenbach, Jean, Korczyn, Amos D., ...

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant muscular dystrophy which presents typically after the age of 50 with progressive eyelid drooping and an increasing...

An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3 (1995)

Ferrero, Glovanni B., Franco, Brunella, Roth, E.Jill, Firulli, Beth A., Borsanl, Gluseppe, Delmas-Mata, Juan, ...

We have constructed a detailed physical map of the 35 Mb region spanning human chromosome Xp22.3–Xp21.3. The backbone of the map is represented by a single oriented contiguous stretch of 585...

Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping (1995)

Nicole, Sophie, Hamida, Christiane Ben, Beighton, Peter, Bakouri, Selim, Belal, Samir, Romero, Norma, ...

Schwartz-Jampel syndrome (SJS, MIM 255800), also known as chondrodystrophic myotonia, is a rare autosomal recessive disorder characterized by generalized myotonia, skeletal abnormalities and facial...

Three genes that escape X chromosome inactivation are clustered within a 6 Mb YAC contig and STS map in Xp11.21-p11.22 (1995)

Miller, Andrew P., Gustashaw, Karen, Wolff, Daynna J., Rider, Sue H., Monaco, Anthony P., Eble, Brian, ...

In order to study the distribution of genes that escape X chromosome inactivation, a high density yeast artificial chromosome (YAC) contig and STS map spanning approximately 6 Mb has been constructed...

Genetic and physical characterization of the early-onset Alzheimer's disease AD3 locus on chromosome 14q24.3 (1995)

Cruts, Marc, Backhovens, Hubert, Theuns, Jessie, Clark, Robert F., Le Paslier, Denis, Weissenbach, Jean, ...

Genetic linkage studies have provided significant evidence that a major gene defect, AD3, for familial early-onset Alzheimer's disease (EOAD) is located at chromosome 14q24.3, between the short...

Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity (1995)

Parmentier, Laurent, Blanchet-Bardon, Claudine, Nguyen, Simon, Prud'homme, Jean-François, Dubertret, Louis, Weissenbach, Jean

Autosomal recessive lamellar ichthyosis (ARLI) belongs to the group of congenital disorders of cornification. It is characterized by a severe and generalized ichthyosis, and other variable cutaneous...

A gene for Leber's congenital amaurosis maps to chromosome 17p (1995)

Camuzat, Agnès, Dollfus, Hélène, Rozet, Jean-Michel, Gerber, Sylvie, Bonneau, Dominique, Bonnemaison, Michèle, ...

Leber's congenital amaurosis (LCA) is an autosomal recessive disease responsible for congenital blindness. It is the most early and severe form of inherited retinopathy and accounts for 5% of...

A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. (1994)

Collod, Gwenaëlle, Babron, Marie-Claude, Jondeau, Guillaume, Coulon, Monique, Weissenbach, Jean, Dubourg, Olivier, ...

Marfan syndrome (MFS) is an autosomal dominant connective-tissue disorder characterized by skeletal, ocular and cardiovascular defects of highly variable expressivity. The diagnosis relies solely on...

A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. (1994)

Collod, Gwenaëlle, Babron, Marie-Claude, Jondeau, Guillaume, Coulon, Monique, Weissenbach, Jean, Dubourg, Olivier, ...

Marfan syndrome (MFS) is an autosomal dominant connective-tissue disorder characterized by skeletal, ocular and cardiovascular defects of highly variable expressivity. The diagnosis relies solely on...

A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. (1994)

Collod, Gwenaëlle, Babron, Marie-Claude, Jondeau, Guillaume, Coulon, Monique, Weissenbach, Jean, Dubourg, Olivier, ...

Marfan syndrome (MFS) is an autosomal dominant connective-tissue disorder characterized by skeletal, ocular and cardiovascular defects of highly variable expressivity. The diagnosis relies solely on...

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene (1994)

Guilford, Parry, Ayadi, Hamadi, Blanchard, Stéphane, Chaib, Hassan, Paslier, Denis Le, Weissenbach, Jean, ...

The identification of mouse models for the various forms of human neurosensory non-syndromic recessive deafness would constitute a major advance in the study of human deafness. Here we describe the...

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene (1994)

Vincent, Christophe, Kalatzis, Vasiliki, Compain, Sylvie, Levilliers, Jacqueline, Slim, Rima, Graia, Fatima, ...

The analysis of a de novo 8q12.2–q21.2 deletion led to the identification of a proposed previously undescribed contiguous gene syndrome consisting of Branchio-Oto-Renal (BOR) syndrome, Duane...

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22 (1994)

G.Puffenberger, Erik, R.Kauffman, Erick, Bolk, Stacey, C.Matise, Tara, S.Washington, Sarah, Angrist, Misha, ...

Hirschsprung disease (HSCR) is a congenital disorder of unknown etiology characterized by the absence of enteric ganglia In the distal colon. We have ascertained a large, inbred, Mennonite kindred...

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly (1994)

W.Scherer, Stephen, Poorka], Parvoneh, Massa, Hillary, Soder, Sylvia, Allen, Todd, Nunes, Mark, ...

Split hand/split foot (ectrodactyly; SHSF) Is a human developmental malformation characterized by missing digits and claw-like extremities. An autosomal dominant form of this disorder has been...

A calcium channel mutation causing hypokalemic periodic paralysis (1994)

Jurkat-Rott, Karln, Lehmann-Horn, Frank, Elbaz, Alexis, Heine, Roland, Gregg, Ronald G., Hogan, Kirk, ...

The only calcium channel mutation reported to date is a deletion in the gene for the DHP-receptor α1-subunit resulting in neonatal death in muscular dysgenesis mice (1). In humans, this gene maps to...

New susceptibility locus for rheumatoid arthritis suggested by a genome-wide linkage study

Cornélis, François, Fauré, Sabine, Martinez, Maria, Prud’homme, Jean-François, Fritz, Pierre, Dib, Colette, ...

Rheumatoid arthritis (RA), the most common autoimmune disease, is associated in families with other autoimmune diseases, including insulin-dependent diabetes mellitus (IDDM). Its genetic component...

Remarkable compartmentalization of transposable elements and pseudogenes in the heterochromatin of the Tetraodon nigroviridis genome

Dasilva, Corinne, Hadji, Hajer, Ozouf-Costaz, Catherine, Nicaud, Sophie, Jaillon, Olivier, Weissenbach, Jean, ...

Tetraodon nigroviridis is among the smallest known vertebrate genomes and as such represents an interesting model for studying genome architecture and evolution. Previous studies have shown that...

Four-Hundred Million Years of Conserved Synteny of Human Xp and Xq Genes on Three Tetraodon Chromosomes

Grützner, Frank, Crollius, Hugues Roest, Lütjens, Götz, Jaillon, Olivier, Weissenbach, Jean, Ropers, Hans-Hilger, ...

The freshwater pufferfish Tetraodon nigroviridis (TNI) has become highly attractive as a compact reference vertebrate genome for gene finding and validation. We have mapped genes, which are more or...

Genome sequence of the cyanobacterium Prochlorococcus marinus SS120, a nearly minimal oxyphototrophic genome

Dufresne, Alexis, Salanoubat, Marcel, Partensky, Frédéric, Artiguenave, François, Axmann, Ilka M., Barbe, Valérie, ...

Prochlorococcus marinus, the dominant photosynthetic organism in the ocean, is found in two main ecological forms: high-light-adapted genotypes in the upper part of the water column and...

A panoramic view of gene expression in the human kidney

Chabardès-Garonne, Danielle, Méjean, Arnaud, Aude, Jean-Christophe, Cheval, Lydie, Di Stefano, Antonio, Gaillard, Marie-Claude, ...

To gain a molecular understanding of kidney functions, we established a high-resolution map of gene expression patterns in the human kidney. The glomerulus and seven different nephron segments were...

Molecular Evidence for Novel Planctomycete Diversity in a Municipal Wastewater Treatment Plant

Chouari, Rakia, Le Paslier, Denis, Daegelen, Patrick, Ginestet, Philippe, Weissenbach, Jean, Sghir, Abdelghani

We examined anoxic and aerobic basins and an anaerobic digestor of a municipal wastewater treatment plant for the presence of novel planctomycete-like diversity. Three 16S rRNA gene libraries were...

Quality Assessment of Whole Genome Mapping Data in the Refined Familial Spastic Paraplegia Interval on Chromosome 14q

Paternotte, Caroline, Rudnicki, Doda, Fizames, Cécile, Davoine, Claire-Sophie, Mavel, Delphine, Dürr, Alexandra, ...

Autosomal dominant familial spastic paraplegia (AD-FSP) is a genetically heterogeneous neurodegenerative disorder characterized by progressive spasticity of the lower limbs. Three loci on chromosome...

Human–Ovine Comparative Sequencing of a 250-kb Imprinted Domain Encompassing the Callipyge (clpg) Locus and Identification of Six Imprinted Transcripts: DLK1, DAT, GTL2, PEG11, antiPEG11, and MEG8

Charlier, Carole, Segers, Karin, Wagenaar, Danny, Karim, Latifa, Berghmans, Stéphane, Jaillon, Olivier, ...

Two ovine BAC clones and a connecting long-range PCR product, jointly spanning ∼250 kb and representing most of the MULGE5-OY3 marker interval known to contain the clpg locus, were completely...

The Complete Genome Sequence of the Lactic Acid Bacterium Lactococcus lactis ssp. lactis IL1403

Bolotin, Alexander, Wincker, Patrick, Mauger, Stéphane, Jaillon, Olivier, Malarme, Karine, Weissenbach, Jean, ...

Lactococcus lactis is a nonpathogenic AT-rich gram-positive bacterium closely related to the genus Streptococcus and is the most commonly used cheese starter. It is also the best-characterized lactic...

Whole Genome Sequence Comparisons and “Full-Length” cDNA Sequences: A Combined Approach to Evaluate and Improve Arabidopsis Genome Annotation

Castelli, Vanina, Aury, Jean-Marc, Jaillon, Olivier, Wincker, Patrick, Clepet, Christian, Menard, Manuella, ...

To evaluate the existing annotation of the Arabidopsis genome further, we generated a collection of evolutionary conserved regions (ecores) between Arabidopsis and rice. The ecore analysis provides...

Numerous Novel Annotations of the Human Genome Sequence Supported by a 5′-End–Enriched cDNA Collection

Porcel, Betina M., Delfour, Olivier, Castelli, Vanina, De Berardinis, Veronique, Friedlander, Lucie, Cruaud, Corinne, ...

A collection of 90,000 human cDNA clones generated to increase the fraction of “full-length” cDNAs available was analyzed by sequence alignment on the human genome assembly. Five hundred...

Assessing the Drosophila melanogaster and Anopheles gambiae Genome Annotations Using Genome-Wide Sequence Comparisons

Jaillon, Olivier, Dossat, Carole, Eckenberg, Ralph, Eiglmeier, Karin, Segurens, Béatrice, Aury, Jean-Marc, ...

We performed genome-wide sequence comparisons at the protein coding level between the genome sequences of Drosophila melanogaster and Anopheles gambiae. Such comparisons detect evolutionarily...

An Active Non-LTR Retrotransposon With Tandem Structure in the Compact Genome of the Pufferfish Tetraodon nigroviridis

Bouneau, Laurence, Fischer, Cécile, Ozouf-Costaz, Catherine, Froschauer, Alexander, Jaillon, Olivier, Coutanceau, Jean-Pierre, ...

The fish retrotransposable element Zebulon encodes a reverse transcriptase and a carboxy-terminal restriction enzyme-like endonuclease, and is related phylogenetically to site-specific non-LTR...

Unique features revealed by the genome sequence of Acinetobacter sp. ADP1, a versatile and naturally transformation competent bacterium

Barbe, Valérie, Vallenet, David, Fonknechten, Nuria, Kreimeyer, Annett, Oztas, Sophie, Labarre, Laurent, ...

Acinetobacter sp. strain ADP1 is a nutritionally versatile soil bacterium closely related to representatives of the well-characterized Pseudomonas aeruginosa and Pseudomonas putida. Unlike these...

Novel Major Bacterial Candidate Division within a Municipal Anaerobic Sludge Digester

Chouari, Rakia, Le Paslier, Denis, Dauga, Catherine, Daegelen, Patrick, Weissenbach, Jean, Sghir, Abdelghani

In a previous study, we analyzed the molecular diversity of Planctomycetales by PCR amplification and sequencing of 16S rRNA clone libraries generated from a municipal wastewater plant, using...

Pilot Anopheles gambiae full-length cDNA study: sequencing and initial characterization of 35,575 clones

Gomez, Shawn M, Eiglmeier, Karin, Segurens, Beatrice, Dehoux, Pierre, Couloux, Arnaud, Scarpelli, Claude, ...

A preliminary analysis of over 35,000 clones from a full-length enriched cDNA library from the malaria mosquito vector Anopheles gambiae identifies nearly 3,700 genes, including a large number of...

Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome

Lefèvre, Caroline, Jobard, Florence, Caux, Frédéric, Bouadjar, Bakar, Karaduman, Aysen, Heilig, Roland, ...

Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive form of nonbullous congenital ichthyosiform erythroderma (NCIE) that is characterized by the presence of intracellular lipid droplets in...

A New Locus for Autosomal Dominant Pure Spastic Paraplegia, on Chromosome 2q24-q34

Fontaine, Bertrand, Davoine, Claire-Sophie, Dürr, Alexandra, Paternotte, Caroline, Feki, Imed, Weissenbach, Jean, ...

Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous disorders causing progressive spasticity and weakness of the lower limbs. We report a large family of...

Characterization of the NPHP1 Locus: Mutational Mechanism Involved in Deletions in Familial Juvenile Nephronophthisis

Saunier, Sophie, Calado, Joaquim, Benessy, France, Silbermann, Flora, Heilig, Roland, Weissenbach, Jean, ...

Familial juvenile nephronophthisis is an autosomal recessive, genetically heterogeneous kidney disorder representing the most frequent inherited cause of chronic renal failure in children. A gene,...

Two New Loci for Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12-q12 and Evidence for Further Genetic Heterogeneity

Fischer, Judith, Faure, Alexandra, Bouadjar, Bakar, Blanchet-Bardon, Claudine, Karaduman, Aysen, Thomas, Isabelle, ...

Autosomal recessive ichthyosis (ARI) includes a heterogeneous group of disorders of keratinization characterized by desquamation over the whole body. Two forms largely limited to the skin have been...

Comparative Genomics of Multidrug Resistance in Acinetobacter baumannii

Fournier, Pierre-Edouard, Vallenet, David, Barbe, Valérie, Audic, Stéphane, Ogata, Hiroyuki, Poirel, Laurent, ...

Acinetobacter baumannii is a species of nonfermentative gram-negative bacteria commonly found in water and soil. This organism was susceptible to most antibiotics in the 1970s. It has now become a...

A Subtracted cDNA Library from the Zebrafish (Danio rerio) Embryonic Inner Ear

Coimbra, Roney S., Weil, Dominique, Brottier, Phillipe, Blanchard, Stéphane, Levi, Michael, Hardelin, Jean-Pierre, ...

A database was built that consists of 4694 sequence contigs of ∼18,000 reads of cDNAs isolated from the microdissected otocysts of zebrafish embryos at 20–30 hour postfertilization, following...

Molecular Basis of Evolutionary Events That Shaped the Hardness Locus in Diploid and Polyploid Wheat Species (Triticum and Aegilops)W⃞

Chantret, Nathalie, Salse, Jérôme, Sabot, François, Rahman, Sadequr, Bellec, Arnaud, Laubin, Bastien, ...

The Hardness (Ha) locus controls grain hardness in hexaploid wheat (Triticum aestivum) and its relatives (Triticum and Aegilops species) and represents a classical example of a trait whose variation...

ASEtrap: A biological method for speeding up the exploration of spliceomes

Thill, Gilbert, Castelli, Vanina, Pallud, Sophie, Salanoubat, Marcel, Wincker, Patrick, De La Grange, Pierre, ...

Alternative splicing (AS) of pre-messenger RNA is a major mechanism for generating protein diversity from a limited number of genes in higher eukaryotes, and it constitutes a central mode of genetic...

New susceptibility locus for rheumatoid arthritis suggested by a genome-wide linkage study

Cornélis, François, Fauré, Sabine, Martinez, Maria, Prud’homme, Jean-François, Fritz, Pierre, Dib, Colette, ...

Rheumatoid arthritis (RA), the most common autoimmune disease, is associated in families with other autoimmune diseases, including insulin-dependent diabetes mellitus (IDDM). Its genetic component...

Remarkable compartmentalization of transposable elements and pseudogenes in the heterochromatin of the Tetraodon nigroviridis genome

Dasilva, Corinne, Hadji, Hajer, Ozouf-Costaz, Catherine, Nicaud, Sophie, Jaillon, Olivier, Weissenbach, Jean, ...

Tetraodon nigroviridis is among the smallest known vertebrate genomes and as such represents an interesting model for studying genome architecture and evolution. Previous studies have shown that...

Four-Hundred Million Years of Conserved Synteny of Human Xp and Xq Genes on Three Tetraodon Chromosomes

Grützner, Frank, Crollius, Hugues Roest, Lütjens, Götz, Jaillon, Olivier, Weissenbach, Jean, Ropers, Hans-Hilger, ...

The freshwater pufferfish Tetraodon nigroviridis (TNI) has become highly attractive as a compact reference vertebrate genome for gene finding and validation. We have mapped genes, which are more or...

Genome sequence of the cyanobacterium Prochlorococcus marinus SS120, a nearly minimal oxyphototrophic genome

Dufresne, Alexis, Salanoubat, Marcel, Partensky, Frédéric, Artiguenave, François, Axmann, Ilka M., Barbe, Valérie, ...

Prochlorococcus marinus, the dominant photosynthetic organism in the ocean, is found in two main ecological forms: high-light-adapted genotypes in the upper part of the water column and...

A panoramic view of gene expression in the human kidney

Chabardès-Garonne, Danielle, Méjean, Arnaud, Aude, Jean-Christophe, Cheval, Lydie, Di Stefano, Antonio, Gaillard, Marie-Claude, ...

To gain a molecular understanding of kidney functions, we established a high-resolution map of gene expression patterns in the human kidney. The glomerulus and seven different nephron segments were...

Molecular Evidence for Novel Planctomycete Diversity in a Municipal Wastewater Treatment Plant

Chouari, Rakia, Le Paslier, Denis, Daegelen, Patrick, Ginestet, Philippe, Weissenbach, Jean, Sghir, Abdelghani

We examined anoxic and aerobic basins and an anaerobic digestor of a municipal wastewater treatment plant for the presence of novel planctomycete-like diversity. Three 16S rRNA gene libraries were...

Quality Assessment of Whole Genome Mapping Data in the Refined Familial Spastic Paraplegia Interval on Chromosome 14q

Paternotte, Caroline, Rudnicki, Doda, Fizames, Cécile, Davoine, Claire-Sophie, Mavel, Delphine, Dürr, Alexandra, ...

Autosomal dominant familial spastic paraplegia (AD-FSP) is a genetically heterogeneous neurodegenerative disorder characterized by progressive spasticity of the lower limbs. Three loci on chromosome...

Human–Ovine Comparative Sequencing of a 250-kb Imprinted Domain Encompassing the Callipyge (clpg) Locus and Identification of Six Imprinted Transcripts: DLK1, DAT, GTL2, PEG11, antiPEG11, and MEG8

Charlier, Carole, Segers, Karin, Wagenaar, Danny, Karim, Latifa, Berghmans, Stéphane, Jaillon, Olivier, ...

Two ovine BAC clones and a connecting long-range PCR product, jointly spanning ∼250 kb and representing most of the MULGE5-OY3 marker interval known to contain the clpg locus, were completely...

The Complete Genome Sequence of the Lactic Acid Bacterium Lactococcus lactis ssp. lactis IL1403

Bolotin, Alexander, Wincker, Patrick, Mauger, Stéphane, Jaillon, Olivier, Malarme, Karine, Weissenbach, Jean, ...

Lactococcus lactis is a nonpathogenic AT-rich gram-positive bacterium closely related to the genus Streptococcus and is the most commonly used cheese starter. It is also the best-characterized lactic...

Whole Genome Sequence Comparisons and “Full-Length” cDNA Sequences: A Combined Approach to Evaluate and Improve Arabidopsis Genome Annotation

Castelli, Vanina, Aury, Jean-Marc, Jaillon, Olivier, Wincker, Patrick, Clepet, Christian, Menard, Manuella, ...

To evaluate the existing annotation of the Arabidopsis genome further, we generated a collection of evolutionary conserved regions (ecores) between Arabidopsis and rice. The ecore analysis provides...

Numerous Novel Annotations of the Human Genome Sequence Supported by a 5′-End–Enriched cDNA Collection

Porcel, Betina M., Delfour, Olivier, Castelli, Vanina, De Berardinis, Veronique, Friedlander, Lucie, Cruaud, Corinne, ...

A collection of 90,000 human cDNA clones generated to increase the fraction of “full-length” cDNAs available was analyzed by sequence alignment on the human genome assembly. Five hundred...

Assessing the Drosophila melanogaster and Anopheles gambiae Genome Annotations Using Genome-Wide Sequence Comparisons

Jaillon, Olivier, Dossat, Carole, Eckenberg, Ralph, Eiglmeier, Karin, Segurens, Béatrice, Aury, Jean-Marc, ...

We performed genome-wide sequence comparisons at the protein coding level between the genome sequences of Drosophila melanogaster and Anopheles gambiae. Such comparisons detect evolutionarily...

An Active Non-LTR Retrotransposon With Tandem Structure in the Compact Genome of the Pufferfish Tetraodon nigroviridis

Bouneau, Laurence, Fischer, Cécile, Ozouf-Costaz, Catherine, Froschauer, Alexander, Jaillon, Olivier, Coutanceau, Jean-Pierre, ...

The fish retrotransposable element Zebulon encodes a reverse transcriptase and a carboxy-terminal restriction enzyme-like endonuclease, and is related phylogenetically to site-specific non-LTR...

Unique features revealed by the genome sequence of Acinetobacter sp. ADP1, a versatile and naturally transformation competent bacterium

Barbe, Valérie, Vallenet, David, Fonknechten, Nuria, Kreimeyer, Annett, Oztas, Sophie, Labarre, Laurent, ...

Acinetobacter sp. strain ADP1 is a nutritionally versatile soil bacterium closely related to representatives of the well-characterized Pseudomonas aeruginosa and Pseudomonas putida. Unlike these...

Novel Major Bacterial Candidate Division within a Municipal Anaerobic Sludge Digester

Chouari, Rakia, Le Paslier, Denis, Dauga, Catherine, Daegelen, Patrick, Weissenbach, Jean, Sghir, Abdelghani

In a previous study, we analyzed the molecular diversity of Planctomycetales by PCR amplification and sequencing of 16S rRNA clone libraries generated from a municipal wastewater plant, using...

Molecular Basis of Evolutionary Events That Shaped the Hardness Locus in Diploid and Polyploid Wheat Species (Triticum and Aegilops)W⃞

Chantret, Nathalie, Salse, Jérôme, Sabot, François, Rahman, Sadequr, Bellec, Arnaud, Laubin, Bastien, ...

The Hardness (Ha) locus controls grain hardness in hexaploid wheat (Triticum aestivum) and its relatives (Triticum and Aegilops species) and represents a classical example of a trait whose variation...

Pilot Anopheles gambiae full-length cDNA study: sequencing and initial characterization of 35,575 clones

Gomez, Shawn M, Eiglmeier, Karin, Segurens, Beatrice, Dehoux, Pierre, Couloux, Arnaud, Scarpelli, Claude, ...

A preliminary analysis of over 35,000 clones from a full-length enriched cDNA library from the malaria mosquito vector Anopheles gambiae identifies nearly 3,700 genes, including a large number of...

Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome

Lefèvre, Caroline, Jobard, Florence, Caux, Frédéric, Bouadjar, Bakar, Karaduman, Aysen, Heilig, Roland, ...

Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive form of nonbullous congenital ichthyosiform erythroderma (NCIE) that is characterized by the presence of intracellular lipid droplets in...

A New Locus for Autosomal Dominant Pure Spastic Paraplegia, on Chromosome 2q24-q34

Fontaine, Bertrand, Davoine, Claire-Sophie, Dürr, Alexandra, Paternotte, Caroline, Feki, Imed, Weissenbach, Jean, ...

Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous disorders causing progressive spasticity and weakness of the lower limbs. We report a large family of...

Characterization of the NPHP1 Locus: Mutational Mechanism Involved in Deletions in Familial Juvenile Nephronophthisis

Saunier, Sophie, Calado, Joaquim, Benessy, France, Silbermann, Flora, Heilig, Roland, Weissenbach, Jean, ...

Familial juvenile nephronophthisis is an autosomal recessive, genetically heterogeneous kidney disorder representing the most frequent inherited cause of chronic renal failure in children. A gene,...

Two New Loci for Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12-q12 and Evidence for Further Genetic Heterogeneity

Fischer, Judith, Faure, Alexandra, Bouadjar, Bakar, Blanchet-Bardon, Claudine, Karaduman, Aysen, Thomas, Isabelle, ...

Autosomal recessive ichthyosis (ARI) includes a heterogeneous group of disorders of keratinization characterized by desquamation over the whole body. Two forms largely limited to the skin have been...

Comparative Genomics of Multidrug Resistance in Acinetobacter baumannii

Fournier, Pierre-Edouard, Vallenet, David, Barbe, Valérie, Audic, Stéphane, Ogata, Hiroyuki, Poirel, Laurent, ...

Acinetobacter baumannii is a species of nonfermentative gram-negative bacteria commonly found in water and soil. This organism was susceptible to most antibiotics in the 1970s. It has now become a...

A Subtracted cDNA Library from the Zebrafish (Danio rerio) Embryonic Inner Ear

Coimbra, Roney S., Weil, Dominique, Brottier, Phillipe, Blanchard, Stéphane, Levi, Michael, Hardelin, Jean-Pierre, ...

A database was built that consists of 4694 sequence contigs of ∼18,000 reads of cDNAs isolated from the microdissected otocysts of zebrafish embryos at 20–30 hour postfertilization, following...

ASEtrap: A biological method for speeding up the exploration of spliceomes

Thill, Gilbert, Castelli, Vanina, Pallud, Sophie, Salanoubat, Marcel, Wincker, Patrick, De La Grange, Pierre, ...

Alternative splicing (AS) of pre-messenger RNA is a major mechanism for generating protein diversity from a limited number of genes in higher eukaryotes, and it constitutes a central mode of genetic...

DNA Replication Origin Interference Increases the Spacing between Initiation Events in Human Cells

Lebofsky, Ronald, Heilig, Roland, Sonnleitner, Max, Weissenbach, Jean, Bensimon, Aaron

Mammalian DNA replication origins localize to sites that range from base pairs to tens of kilobases. A regular distribution of initiations in individual cell cycles suggests that only a limited...

Mapping of a Further Malignant Hyperthermia Susceptibility Locus to Chromosome 3q13.1

Sudbrak, Ralf, Procaccio, Vincent, Klausnitzer, Monica, Curran, Julie L., Monsieurs, Koen, Van Broeckhoven, Christine, ...

Malignant hyperthermia (MH) is a potentially lethal pharmacogenetic disease for which MH susceptibility (MHS) is transmitted as an autosomal dominant trait. A potentially life-threatening MH crisis...

Ataxia with Vitamin E Deficiency: Refinement of Genetic Localization and Analysis of Linkage Disequilibrium by Using New Markers in 14 Families

Doerflinger, Nathalie, Linder, Catherine, Ouahchi, Karim, Gyapay, Gabor, Weissenbach, Jean, Le Paslier, Denis, ...

Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disease characterized clinically by neurological symptoms with often striking resemblance to those of Friedreich ataxia. This...

Refinement of the Multiple Exostoses Locus (EXT2) to a 3-cM Interval on Chromosome 11

Wuyts, Wim, Ramlakhan, Sarvan, Van Hul, Wim, Hecht, Jacqueline T., Raskind, Wendy H., ...

Hereditary multiple exostoses (EXT) is an autosomal dominant skeletal disorder characterized by the formation of multiple exostoses on the long bones. EXT is genetically heterogeneous, with at least...

A Tale of Two Oxidation States: Bacterial Colonization of Arsenic-Rich Environments

Muller, Daniel, Médigue, Claudine, Koechler, Sandrine, Barbe, Valérie, Barakat, Mohamed, Talla, Emmanuel, ...

Microbial biotransformations have a major impact on contamination by toxic elements, which threatens public health in developing and industrial countries. Finding a means of preserving natural...

Progressive Myoclonus Epilepsy EPM1 Locus Maps to a 175-kb Interval in Distal 21q

Virtaneva, Kimmo, Miao, Jinmin, Träskelin, Ann-Liz, Stone, Nancy, Warrington, Janet A., Weissenbach, Jean, ...

The EPM1 locus responsible for progressive myoclonus epilepsy of Unverricht-Lundborg type (MIM 254800) maps to a region in distal chromosome 21q where positional cloning has been hampered by the lack...

A Third Locus for Autosomal Dominant Cerebellar Ataxia Type 1 Maps to Chromosome 14q24.3-qter: Evidence for the Existence of a Fourth Locus

Stevanin, Giovanni, Le Guern, Eric, Ravisé, Nicole, Chneiweiss, Hervé, Dürr, Alexandra, Cancel, Géraldine, ...

The autosomal dominant cerebellar ataxias (ADCA) type I are a group of neurological disorders that are clinically and genetically heterogeneous. Two genes implicated in the disease, SCA1 (spinal...

Use of Genetic and Physical Mapping to Locate the Spinal Muscular Atrophy Locus between Two New Highly Polymorphic DNA Markers

Clermont, Olivier, Burlet, Philippe, Burglen, Lydie, Lefebvre, Suzie, Pascal, Fabrice, McPherson, John, ...

The gene for autosomal recessive forms of spinal muscular atrophy (SMA) has recently been mapped to chromosome 5ql3, within a 4-cM region between the blocks D5S465/D5S125 and MAP-1B/D5S112. We...

Recombinations in Individuals Homozygous by Descent Localize the Friedreich Ataxia Locus in a Cloned 450-kb Interval

Rodius, François, Duclos, Franck, Wrogemann, Klaus, Le Paslier, Denis, Ougen, Pierre, Billault, Alain, ...

The locus for Friedreich ataxia (FRDA), a severe neurodegenerative disease, is tightly linked to markers D9S5 and D9S15, and analysis of rare recombination events has suggested the order...

Evidence That the Saethre-Chotzen Syndrome Locus Lies between D7S664 and D7S507, by Genetic Analysis and Detection of a Microdeletion in a Patient

Lewanda, Amy Feldman, Green, Eric D., Weissenbach, Jean, Jerald, Heather, Taylor, Eugene, Summar, Marshall L., ...

The locus for Saethre-Chotzen syndrome, a common autosomal dominant disorder of craniosynostosis and digital anomalies, was previously mapped to chromosome 7p between D7S513 and D7S516. We used...

Vector integration is nonrandom and clustered and influences the fate of lymphopoiesis in SCID-X1 gene therapy

Deichmann, Annette, Schmidt, Manfred, Garrigue, Alexandrine, Brugman, Martijn H., Hu, Jingqiong, ...

Recent reports have challenged the notion that retroviruses and retroviral vectors integrate randomly into the host genome. These reports pointed to a strong bias toward integration in and near gene...

Comparative Analysis of Acinetobacters: Three Genomes for Three Lifestyles

Vallenet, David, Nordmann, Patrice, Barbe, Valérie, Poirel, Laurent, Mangenot, Sophie, Bataille, Elodie, ...

Acinetobacter baumannii is the source of numerous nosocomial infections in humans and therefore deserves close attention as multidrug or even pandrug resistant strains are increasingly being...

A complete collection of single-gene deletion mutants of Acinetobacter baylyi ADP1

De Berardinis, Véronique, Vallenet, David, Castelli, Vanina, Besnard, Marielle, Pinet, Agnès, Cruaud, Corinne, ...

We have constructed a collection of single-gene deletion mutants for all dispensable genes of the soil bacterium Acinetobacter baylyi ADP1. A total of 2594 deletion mutants were obtained, whereas 499...

The genome sequence of the model ascomycete fungus Podospora anserina

Espagne, Eric, Lespinet, Olivier, Malagnac, Fabienne, Da Silva, Corinne, Jaillon, Olivier, Porcel, Betina M, ...

A 10X draft sequence of Podospora anserina genome shows highly dynamic evolution since its divergence from Neurospora crassa.

“Candidatus Cloacamonas Acidaminovorans”: Genome Sequence Reconstruction Provides a First Glimpse of a New Bacterial Division▿ †

Pelletier, Eric, Kreimeyer, Annett, Bocs, Stéphanie, Rouy, Zoé, Gyapay, Gábor, Chouari, Rakia, ...

Many microorganisms live in anaerobic environments. Most of these microorganisms have not yet been cultivated. Here, we present, from a metagenomic analysis of an anaerobic digester of a municipal...

A placenta-specific receptor for the fusogenic, endogenous retrovirus-derived, human syncytin-2

Esnault, Cécile, Priet, Stéphane, Ribet, David, Vernochet, Cécile, Bruls, Thomas, Lavialle, Christian, ...

Syncytin-2 is an envelope gene from the human endogenous retrovirus FRD (HERV-FRD) co-opted by an ancestral primate host, conserved in evolution over >40 Myr, specifically expressed in the placenta,...

Discovery and characterization of a new bacterial candidate division by an anaerobic sludge digester metagenomic approach

Guermazi, Sonda, Daegelen, Patrick, Dauga, Catherine, Rivière, Delphine, Bouchez, Théodore, Godon, Jean Jacques, ...

We have constructed a large fosmid library from a mesophilic anaerobic digester and explored its 16S rDNA diversity using a high-density filter DNA–DNA hybridization procedure. We identified a...

Comparative genomics of protoploid Saccharomycetaceae

Souciet, Jean-Luc, Dujon, Bernard, Gaillardin, Claude, Johnston, Mark, Baret, Philippe V., Cliften, Paul, ...

Our knowledge of yeast genomes remains largely dominated by the extensive studies on Saccharomyces cerevisiae and the consequences of its ancestral duplication, leaving the evolution of the entire...

A Conserved Gene Cluster Rules Anaerobic Oxidative Degradation of l-Ornithine▿

Fonknechten, Nuria, Perret, Alain, Perchat, Nadia, Tricot, Sabine, Lechaplais, Christophe, Vallenet, David, ...

For the ornithine fermentation pathway, described more than 70 years ago, genetic and biochemical information are still incomplete. We present here the experimental identification of the last four...