Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length Variation

Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation.

The CAG repeat expansion in the Huntington's disease gene HTT extends a polyglutamine tract in mutant huntingtin that enhances its ability to facilitate polycomb repressive complex 2 (PRC2). To gain insight into this dominant gain of function, we mapped histone modifications genome-wide across an isogenic panel of mouse embryonic stem cell (ESC) and neuronal progenitor cell (NPC) lines, compari...

Androgen receptor CAG and GGN repeat length variation contributes more to the tumorigenesis of osteosarcoma

The androgen receptor (AR) is involved in the differentiation and growth of many cancers. We hypothesized that two microsatellite polymorphic variants, AR (CAG)n and (GGN)n repeats, were also associated with the development of Papillary thyroid cancer (PTC) and Osteosarcoma. In current study, we conducted two case-control studies in a Chinese population to investigate the possible relationship ...

Retraction: Androgen receptor CAG and GGN repeat length variation contributes more to the tumorigenesis of osteosarcoma

Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline.

Expanded CAG repeat tracts are the cause of at least a dozen neurodegenerative disorders. In humans, long CAG repeats tend to expand during transmissions from parent to offspring, leading to an earlier age of disease onset and more severe symptoms in subsequent generations. Here, we show that the maintenance DNA methyltransferase Dnmt1, which preserves the patterns of CpG methylation, plays a k...

Male infertility and variation in CAG repeat length in the androgen receptor gene: a meta-analysis.

CONTEXT Many studies have investigated the association between male infertility and trinucleotide repeat polymorphisms in the androgen receptor (AR) gene, but no comprehensive meta-analysis of all published studies has been conducted. OBJECTIVE Our goals were to summarize published data on associations between AR CAG and GGC repeat lengths and male infertility and investigate sources of varia...