A novel missense mutation in the HSF4 gene of giant pandas with senile congenital cataracts.

ABSTRACT: Cataracts are a common cause of visual impairment and blindness in mammals. They are usually associated with aging, but approximately one third of cases have a significant genetic component. Cataracts are increasingly prevalent among aging populations of captive giant pandas (Ailuropoda melanoleuca) and it is therefore important to identify genetic determinants that influence the likelihood of cataract development in order to distinguish between congenital and age-related disease. Here we screened for cataract-related genetic effects using a functional candidate gene approach combined with bioinformatics to identify the underlying genetic defect in a giant panda with congenital cataracts. We identified a missense mutation in exon 10 of the HSF4 gene encoding heat shock transcription factor

SUBMITTER: You Y 

PROVIDER: S-EPMC7940430 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature