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

BMC Genomics

Xuefeng Liu¹  Yuyan You¹  Wei Wang¹  Ting Jia¹  Chao Bai¹  Chenglin Zhang¹  Tianchun Pu²  Xiaoguang Li²  Yan Lu²  Maohua Xia²  Liqin Wang³  Lili Niu³  Yanqiang Yin⁴  Jun Zhou⁴ 

[1] Beijing Key Laboratory of Captive Wildlife Technologies, Beijing Zoo, Beijing, China;Beijing Zoo, Beijing, China;Chengdu Zoo, Chengdu, China;Chongqing Zoo, Chongqing, China;

关键词: Cataracts;    Giant panda;    Major intrinsic protein (MIP);   

DOI  :  10.1186/s12864-021-07386-8

来源: Springer

【 摘 要 】

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

【 授权许可】

CC BY