Journal Article

Survey of CAG/CTG Repeats in Human cDNAs Representing New Genes: Candidates for Inherited Neurological Disorders

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 and Howard M. Cann

in Human Molecular Genetics

Volume 5, issue 7, pages 1001-1009
Published in print July 1996 | ISSN: 0964-6906
Published online July 1996 | e-ISSN: 1460-2083 | DOI:
Survey of CAG/CTG Repeats in Human cDNAs Representing New Genes: Candidates for Inherited Neurological Disorders

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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.

Journal Article.  5448 words.  Illustrated.

Subjects: Genetics and Genomics

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