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

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 proj...

Full description

Saved in:

Bibliographic Details
Published in:	Human molecular genetics Vol. 5; no. 7; pp. 1001 - 1009
Main Authors:	Néri, Christian, Albanèse, Véronique, Lebre, Anne-Sophie, Holbert, Sébastien, Saada, Claudine, Bougueleret, Lydie, Meier-Ewert, Sebastian, Le Gall, Isabelle, Millasseau, Philippe, Bui, Hung, Giudicelli, Catherine, Massart, Catherine, Guillou, Sophie, Gervy, Patricia, Poullier, Eric, Rigault, Philippe, Weissenbach, Jean, Lennon, Greg, Chumakov, Ilya, Dausset, Jean, Lehrach, Hans, Cohen, Daniel, Cann, Howard M.
Format:	Journal Article
Language:	English
Published:	Oxford Oxford University Press 01-07-1996 Oxford University Press (OUP)
Subjects:	Biological and medical sciences Brain - embryology Brain Chemistry Chromosome Mapping Chromosomes, Human Classical genetics, quantitative genetics, hybrids Cloning, Molecular DNA, Complementary - genetics Fundamental and applied biological sciences. Psychology Gene Expression Gene Library Genes - genetics Genetics of eukaryotes. Biological and molecular evolution Human Human health and pathology Humans Infant, Newborn Life Sciences Molecular Sequence Data Nervous System Diseases - genetics Polymorphism, Genetic Psychiatrics and mental health Sequence Analysis, DNA Trinucleotide Repeats - genetics Genetic mapping Human Nervous system diseases Genetic marker Trinucleotide Chromosome Neurological mutation Screening Complementary DNA Gene Microsatellite DNA Central nervous system disease Instability Detection Expressed sequence tag Expansion Polymorphism MAPS SEARCH SEQUENCE EXPANSION SUSCEPTIBILITY GENE SCHIZOPHRENIA EXPANDED CAG REPEATS ATAXIA EXPRESSION TRINUCLEOTIDE REPEATS
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	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.
Bibliography:	These authors contributed equally to this work ark:/67375/HXZ-N14ZSTNL-2 To whom correspondence should be addressed istex:2D8F48E13671DF33F43D2A48F66266D9A53B19A1 ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Article-1 ObjectType-Feature-2
ISSN:	0964-6906 1460-2083 1460-2083
DOI:	10.1093/hmg/5.7.1001