Molecular basis of spinocerebellar ataxias subtype caused by nucleotide repeat expansion in noncoding region / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 293-296, 2008.
Article
Dans Chinois
| WPRIM
| ID: wpr-229770
ABSTRACT
Hereditary spinocerebellar ataxias(SCA) are mainly caused by trinucleotide (CAG/CAA) repeat expansion in open reading frames of corresponding gene. However, SCA8, SCA10 and SCA12 are caused by nucleotide repeat expansion in noncoding region. Recent researches focus on the pathogenesis and hereditary traits, including the instability of nucleotide repeat, the alteration of penetrance, the bias of gender inheritance and the anticipation. The pathogenesis of these three SCA subtypes is different from other subtypes because the repeat expansion in noncoding region has mild influence on translation of polyQ protein. We suggest that the interference on DNA transcription by the abnormal nucleotide expansion, the post-transcriptional toxic effect of abnormal RNA, and the mechanism of bidirectional expression of repeat expansion transcripts play a critical role on SCA8, SCA10 and SCA12 pathogenesis.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Expansion de trinucléotide répété
/
Ataxies spinocérébelleuses
/
Génétique
/
Modèles biologiques
Limites du sujet:
Humains
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2008
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS