caa a22 4500 397575106 CHVBK 20180308164853.0 cr unu---uuuuu 161202e199607 xx s 000 0 eng 10.1093/hmg/5.7.1001 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.7.1001 Survey of CAG/CTG Repeats in Human cDNAs Representing New Genes: Candidates for Inherited Neurological Disorders [Elektronische Daten] [Christian Néri, Véronique Albanèse, Anne-Sophie Lebre, Sébastien Holbert, Claudine Saada, Lydie Bougueleret, Sebastian Meier-Ewert, Isabelle Le Gall, Philippe Millasseau, Hung Bui, Catherine Giudicelli, Catherine Massart, Sophie Guillou, Patricia Gervy, Eric Poullier, Philippe Rigault, Jean Weissenbach, Greg Lennon, Ilya Chumakov, Jean Dausset, Hans Lehrach, Daniel Cohen, Howard M. Cann] Expansion of polymorphic CAG and CTG repeats in transcripts is the cause of six inherited neurodegenerative or neuromuscular diseases and may be involved in several other genetic disorders of the central nervous system. To identify new candidate genes, we have undertaken a large-scale screening project for CAG and CTG repeats in human reference cDNAs. We screened 100 128 brain cDNAs by hybridization. We also scanned GenBank expressed sequence tags for the presence of long CAG/CTG repeats in the extremities of cDNAs from several human tissues. Of the selected clones, 286 were found to represent new genes, and 72 have thus far been shown to contain CAG/CTG repeats. Our data indicate that CAG/CTG repeated 10 or more times are more likely to be polymorphic, and that new 3′-directed cDNAs with such repeats are very rare (1/2862). Nine new cDNAs containing polymorphic (observed heterozygote frequency: 0.05-0.90) CAG/CTG repeats have been currently identified in cDNAs. All of the cDNAs have been assigned to chromosomes, and six of them could be mapped with YACs to 1q32-q41, 3p14, 4q28, 3p21 and 12q13.3, 13q13.1-q13.2, and 19q13.43. Three of these clones are highly polymorphic and represent the most likely candidate genes for inherited neurodegenerative diseases and, perhaps, neuropsychiatric disorders of multifactorial origin. © 1996 Oxford University Press Néri Christian Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut Albanèse Véronique Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut Lebre Anne-Sophie Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut Holbert Sébastien Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut Saada Claudine Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut Bougueleret Lydie Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut Meier-Ewert Sebastian Max Planck Institute for Molecular Genetics, Berlin, Germany aut Le Gall Isabelle Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut Millasseau Philippe Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut Bui Hung Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut Giudicelli Catherine Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut Massart Catherine Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut Guillou Sophie Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut Gervy Patricia Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut Poullier Eric Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut Rigault Philippe Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut Weissenbach Jean CNRS URA 1922, Genethon, Evry, France aut Lennon Greg Lawrence Livermore National Laboratories (LLNL), Livermore, CA, USA aut Chumakov Ilya Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut Dausset Jean Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut Lehrach Hans Max Planck Institute for Molecular Genetics, Berlin, Germany aut Cohen Daniel Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut Cann Howard M. Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut Human Molecular Genetics Oxford University Press 5/7(1996-07), 1001-1009 0964-6906 5:7<1001 1996 5 hmg https://doi.org/10.1093/hmg/5.7.1001 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.7.1001 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Néri Christian Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut NATIONALLICENCE 700 1- Albanèse Véronique Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut NATIONALLICENCE 700 1- Lebre Anne-Sophie Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut NATIONALLICENCE 700 1- Holbert Sébastien Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut NATIONALLICENCE 700 1- Saada Claudine Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut NATIONALLICENCE 700 1- Bougueleret Lydie Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut NATIONALLICENCE 700 1- Meier-Ewert Sebastian Max Planck Institute for Molecular Genetics, Berlin, Germany aut NATIONALLICENCE 700 1- Le Gall Isabelle Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut NATIONALLICENCE 700 1- Millasseau Philippe Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut NATIONALLICENCE 700 1- Bui Hung Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut NATIONALLICENCE 700 1- Giudicelli Catherine Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut NATIONALLICENCE 700 1- Massart Catherine Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut NATIONALLICENCE 700 1- Guillou Sophie Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut NATIONALLICENCE 700 1- Gervy Patricia Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut NATIONALLICENCE 700 1- Poullier Eric Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut NATIONALLICENCE 700 1- Rigault Philippe Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut NATIONALLICENCE 700 1- Weissenbach Jean CNRS URA 1922, Genethon, Evry, France aut NATIONALLICENCE 700 1- Lennon Greg Lawrence Livermore National Laboratories (LLNL), Livermore, CA, USA aut NATIONALLICENCE 700 1- Chumakov Ilya Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut NATIONALLICENCE 700 1- Dausset Jean Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut NATIONALLICENCE 700 1- Lehrach Hans Max Planck Institute for Molecular Genetics, Berlin, Germany aut NATIONALLICENCE 700 1- Cohen Daniel Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut NATIONALLICENCE 700 1- Cann Howard M. Fondation Jean Dausset-CEPH, 27 rue Juliette Dodu, 75010 Paris, France aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/7(1996-07), 1001-1009 0964-6906 5:7<1001 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford