A novel missense mutation in the gene encoding major intrinsic protein (MIP) in a Giant panda with unilateral cataract formation

Abstract Background Cataracts are defects of the lens that cause progressive visual impairment and ultimately blindness in many vertebrate species. Most cataracts age-related, but up to one third have an underlying genetic cause. common captive zoo animals, it is often unclear whether these congenital or acquired (age-related) lesions. Results Here we used a functional candidate gene screening approach identify mutations associated with giant panda ( Ailuropoda melanoleuca ). We screened 11 genes human identified novel missense mutation (c.686G > A) MIP encoding major intrinsic protein. This expressed normally accumulates plasma membrane fiber cells, where plays important role fluid transport cell adhesion. The causes replacement serine asparagine (p.S229N) C-terminal tail protein, modeling predicts induces conformational changes may interfere permeability cell–cell interactions. Conclusion c.686G A was found unilateral cataract not 18 controls from diverse regions China, suggesting most likely genuine disease-associated rather than single-nucleotide polymorphism. could therefore serve as new marker predict risk pandas.