TY - JOUR
T1 - Length variation of CAG/CAA triplet repeats in 50 genes among 16 inbred mouse strains
AU - Ogasawara, Michihiro
AU - Imanishi, Tadashi
AU - Moriwaki, Kazuo
AU - Gaudieri, Silvana
AU - Tsuda, Hiroshi
AU - Hashimoto, Hiroshi
AU - Shiroishi, Toshihiko
AU - Gojobori, Takashi
AU - Koide, Tsuyoshi
PY - 2005/4/11
Y1 - 2005/4/11
N2 - CAG repeats coding for poly-glutamines have been studied by many groups as repeat length variations contributes to differences in protein function and disease outcome. In this study, we systematically searched public databases for genes carrying CAG repeats. For the genes obtained, we experimentally analyzed variations of length and the purity of the repeats in 62 loci among 16 inbred mouse strains, including wild-derived and laboratory strains. We found that length was conserved in 50% of the loci, especially among wild-derived strains. Of 496 polymorphic repeat alleles, 78% were uninterrupted and 22% were interrupted with non-CAG codons. Interruptions tended to occur in longer repeats and all repeats of greater length than 23 were interrupted. Although interruptions can act as suppressors for the expansion of CAG repeats, we found that the occurrence of the interruptions depended on the length of the CAG repeats. Furthermore, most poly-glutamines examined in this study existed in human orthologous genes, reflecting the functional significance of poly-glutamines in proteins.
AB - CAG repeats coding for poly-glutamines have been studied by many groups as repeat length variations contributes to differences in protein function and disease outcome. In this study, we systematically searched public databases for genes carrying CAG repeats. For the genes obtained, we experimentally analyzed variations of length and the purity of the repeats in 62 loci among 16 inbred mouse strains, including wild-derived and laboratory strains. We found that length was conserved in 50% of the loci, especially among wild-derived strains. Of 496 polymorphic repeat alleles, 78% were uninterrupted and 22% were interrupted with non-CAG codons. Interruptions tended to occur in longer repeats and all repeats of greater length than 23 were interrupted. Although interruptions can act as suppressors for the expansion of CAG repeats, we found that the occurrence of the interruptions depended on the length of the CAG repeats. Furthermore, most poly-glutamines examined in this study existed in human orthologous genes, reflecting the functional significance of poly-glutamines in proteins.
KW - Evolution
KW - Functional constraint
KW - Poly-glutamines
KW - Wild mice
UR - http://www.scopus.com/inward/record.url?scp=17044430188&partnerID=8YFLogxK
U2 - 10.1016/j.gene.2004.11.050
DO - 10.1016/j.gene.2004.11.050
M3 - Article
C2 - 15777662
AN - SCOPUS:17044430188
SN - 0378-1119
VL - 349
SP - 107
EP - 119
JO - GENE
JF - GENE
ER -
