[Transcriptional regulation and subcellular localization of mutant androgen receptor in spinal and bulbar muscular atrophy].
Spinal and bulbar muscular atrophy (SBMA) is an adult form of motor neuronopathy with X-linked recessive hereditary trait, whose genetic mutation is an expansion of CAG repeats in the androgen receptor(AR) gene. The effect of the expansion of the polyglutamine stretch in AR protein has been investigated in several lines of experiments. The binding ability of androgen to AR is similar to control, but AR binding affinity to androgen responsive element(ARE) is increased in mutant AR, and AR-induced transcriptional activation decreases with increasing glutamine repeats. The subcellular localization of mutant AR may be variable among the tissues, but intranuclear inclusion of mutant AR occurs ubiquitously in neural and non-neural tissues. Therefore the expansion in the polyglutamine stretch may induce some pathological aberrations in transcriptional regulation and translocation of AR in SBMA.
Miwa
S
S
Department of Neurology, Nagoya University School of Medicine.
Li
M
M
Sobue
G
G
D000328:Adult; D005786:Gene Expression Regulation / Q000502:physiology*; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D011944:Receptors, Androgen / Q000032:analysis* / Q000235:genetics*; D014158:Transcription, Genetic; D018911:Trinucleotide Repeats / Q000235:genetics*
D011944:Receptors, Androgen