Expanded CAG-CTG trinucleotide repeat tracts are associated with a number of hereditary neurodegenerative and neuromuscular diseases such as Huntington's disease, myotonic dystrophy and spinocerebellar ataxias. These diseases are characterized by the phenomenon of genetic anticipation, which is defined by a decrease in the age of onset and an increase in severity of the disease with successive ...

Trinucleotide repeats are involved in several neurological disorders in humans. DNA sequences containing CAG/CTG repeats are prone to slippage during replication and double-strand break repair. The effects of trinucleotide repeats on transcription and on nuclear export were analyzed in vivo in yeast. Transcription of a CAG/CTG trinucleotide repeat in the 3'-untranslated region of a URA3 reporte...

Dynamic expansions of toxic polyglutamine (polyQ)-encoding CAG repeats in ubiquitously expressed, but otherwise unrelated, genes cause a number of late-onset progressive neurodegenerative disorders, including Huntington disease and the spinocerebellar ataxias. As polyQ toxicity in these disorders increases with repeat length, the intergenerational expansion of unstable CAG repeats leads to anti...

Chromosome abnormalities, Y-chromosome microdeletions, and androgen receptor gene CAG and GGN repeat polymorphisms in infertile Chinese men featuring severe oligospermia and azoospermia were analyzed. Ninety-six fertile men and 189 non-obstructive infertile men, including 125 patients with azoospermia and 64 with severe oligozoospermia, were studied. Seventeen infertile men (9.0%) carried a chr...

OBJECTIVE To explore the profile of cytosine/adenine/guanine (CAG) repeat expansion in Omani spinocerebellar ataxia (SCA) patients. METHODS Ten SCA patients attending the Sultan Qaboos University Hospital Neurologic clinics, Al-Khoud, Oman in the 3 years starting from January 2000 were recruited for this study. Genomic DNA was extracted from peripheral blood samples and CAG repeat expansion a...

The role of estrogen and androgen receptors signaling in breast cancer is widely accepted, but the interrelations between them are not well understood. It was suggested that PSA could be a marker of endogenous balance between androgens and estrogens. In this context, we intended to investigate the potential of relationship between polymorphic tandem repeats (CAG, TA and CA) in AR (androgen rece...

While an unstable CTG triplet repeat expansion is responsible for myotonic dystrophy, the mechanism whereby this genetic defect induces the disease remains unknown. To detect proteins binding to CTG triplet repeats, we performed bandshift analysis using as probes double-stranded DNA fragments having CTG repeats [ds(CTG)6-10] and single-stranded oligonucleotides having CTG repeats ss(CTG)8 or RN...

CONTEXT The individual variability in the waning androgenic-anabolic functions of aging men may be influenced by the CAG repeat polymorphism in exon 1 of the androgen receptor (AR), affecting androgen sensitivity. However, findings on its phenotypic effects are inconclusive. OBJECTIVE The aim was to investigate the relationships between health status, various reproductive hormones, and the AR...

becomes significant only after 6 months of age, long The polyglutamine neurodegenerative diseases—a group after the phenotype has appeared. The axons of the that so far includes spinobulbar muscular atrophy murine Purkinje cells are not dilated like the human (SBMA), Huntington’s disease (HD), dentatorubropalliSCA1-affected cells, but this is the only pathologic difdoluysian atrophy (DRPLA) and...