Article
Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability.
Human molecular genetics - 1 Jun 1998
La Spada A R, Peterson K R, Meadows S A, McClain M E, Jeng G, Chmelar R S, Haugen H A, Chen K, Singer M J, Moore D, Trask B J, Fischbeck K H, Clegg C H, McKnight G S
Abstract excerpt
X-linked spinal and bulbar muscular atrophy (SBMA) is caused by a CAG repeat expansion in the first exon of the androgen receptor (AR) gene. Disease-associated alleles (37-66 CAGs) change in length when transmitted from parents to offspring, with a significantly greater tendency to shift size whe...
Topics
- Age Factors
- Alleles
- Animals
- Chromosome Mapping
- Chromosomes, Artificial, Yeast
- Disease Models, Animal
- Female
- Gene Dosage
- Gene Expression
- Humans
- Mice
- Mice, Transgenic
- Mosaicism
- Muscular Atrophy, Spinal