Human Molecular Genetics, Vol 5, 1001-1009, Copyright © 1996 by Oxford University Press
C Neri, V Albanese, AS Lebre, S Holbert, C Saada, L Bougueleret, S Meier-Ewert, I Le Gall, P Millasseau, H Bui, C Giudicelli, C Massart, S Guillou, P Gervy, E Poullier, P Rigault, J Weissenbach, G Lennon, I Chumakov, J Dausset, H Lehrach, D Cohen and HM 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.
ARTICLES
Survey of CAG/CTG repeats in human cDNAs representing new genes: candidates for inherited neurological disorders
Fondation Jean Dausset-CEPH, Paris, France.
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