Ontology highlight
ABSTRACT:
SUBMITTER: Neueder A
PROVIDER: S-EPMC5431000 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
Neueder Andreas A Landles Christian C Ghosh Rhia R Howland David D Myers Richard H RH Faull Richard L M RLM Tabrizi Sarah J SJ Bates Gillian P GP
Scientific reports 20170502 1
We have previously shown that exon 1 of the huntingtin gene does not always splice to exon 2 resulting in the production of a small polyadenylated mRNA (HTTexon1) that encodes the highly pathogenic exon 1 HTT protein. The level of this read-through product is proportional to CAG repeat length and is present in all knock-in mouse models of Huntington's disease (HD) with CAG lengths of 50 and above and in the YAC128 and BACHD mouse models, both of which express a copy of the human HTT gene. We hav ...[more]