Transcriptome sequencing reveals aberrant alternative splicing in Huntington's disease.

ABSTRACT: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG expansion in the gene-encoding Huntingtin (HTT). Transcriptome dysregulation is a major feature of HD pathogenesis, as revealed by a large body of work on gene expression profiling of tissues from human HD patients and mouse models. These studies were primarily focused on transcriptional changes affecting steady-state overall gene expression levels using microarray based approaches. A major missing component, however, has been the study of transcriptome changes at the post-transcriptional level, such as alternative splicing. Alternative splicing is a critical mechanism for expanding regulatory and functional diversity from a limited number of genes, and is particularly complex in the mammalian bra

SUBMITTER: Lin L 

PROVIDER: S-EPMC5179942 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature