C. Pecheux et al., SEQUENCE-ANALYSIS OF THE CAG TRIPLET REPEATS REGION IN THE HUNTINGTONDISEASE GENE (IT15) IN SEVERAL MAMMALIAN-SPECIES, Annales de genetique, 39(2), 1996, pp. 81-86
Huntington's disease (HD) is a progressive neurodegenerative disease l
inked to abnormally expanded CAG repeats in the first exon of the IT15
gene. Neither HD or other glutamine expansion triplet disease has not
yet been described in other species as human, In this study, we seque
nced the region containing the CAG repeat expansion region of the corr
esponding IT15 gene in several mammalian species, In all investigated
species, the number of CAG found is equal or inferior to the normal ra
nge of human IT15 alleles, The longer uninterrupted CAG stretch was fo
und in the pig and consists of 18 GAG. In the other species, the CAG s
tretch was shorter and/or interrupted by other triplets, The proline e
ncoding region following the CAG stretch is conserved in the mammalian
species studied here and the number of proline is few or not reduced
compared to the number of the glutamine codon repeats region.