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 mel...
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2021
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oai:doaj.org-article:4ab9236ffd9b46af9de4e26bef8088162021-12-02T13:34:46ZA novel missense mutation in the HSF4 gene of giant pandas with senile congenital cataracts10.1038/s41598-021-84741-52045-2322https://doaj.org/article/4ab9236ffd9b46af9de4e26bef8088162021-03-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-84741-5https://doaj.org/toc/2045-2322Abstract 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 4. The mutation causes the amino acid substitution R377W in a highly conserved segment of the protein between the isoform-specific and downstream hydrophobic regions. Predictive modeling revealed that the substitution is likely to increase the hydrophobicity of the protein and disrupt interactions with spatially adjacent amino acid side chains. The mutation was not found in 13 unaffected unrelated animals but was found in an unrelated animal also diagnosed with senile congenital cataract. The novel missense mutation in the HSF4 gene therefore provides a potential new genetic determinant that could help to predict the risk of cataracts in giant pandas.Yuyan YouChao BaiXuefeng LiuMaohua XiaYanqiang YinYucun ChenWei WangTing JiaYan LuTianchun PuChenglin ZhangXiaoguang LiLiqin WangYunfang XiuLili NiuJun ZhouYang DuYanhui LiuSuhui XuNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-7 (2021) |
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DOAJ |
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Medicine R Science Q |
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Medicine R Science Q Yuyan You Chao Bai Xuefeng Liu Maohua Xia Yanqiang Yin Yucun Chen Wei Wang Ting Jia Yan Lu Tianchun Pu Chenglin Zhang Xiaoguang Li Liqin Wang Yunfang Xiu Lili Niu Jun Zhou Yang Du Yanhui Liu Suhui Xu A novel missense mutation in the HSF4 gene of giant pandas with senile congenital cataracts |
| description |
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 4. The mutation causes the amino acid substitution R377W in a highly conserved segment of the protein between the isoform-specific and downstream hydrophobic regions. Predictive modeling revealed that the substitution is likely to increase the hydrophobicity of the protein and disrupt interactions with spatially adjacent amino acid side chains. The mutation was not found in 13 unaffected unrelated animals but was found in an unrelated animal also diagnosed with senile congenital cataract. The novel missense mutation in the HSF4 gene therefore provides a potential new genetic determinant that could help to predict the risk of cataracts in giant pandas. |
| format |
article |
| author |
Yuyan You Chao Bai Xuefeng Liu Maohua Xia Yanqiang Yin Yucun Chen Wei Wang Ting Jia Yan Lu Tianchun Pu Chenglin Zhang Xiaoguang Li Liqin Wang Yunfang Xiu Lili Niu Jun Zhou Yang Du Yanhui Liu Suhui Xu |
| author_facet |
Yuyan You Chao Bai Xuefeng Liu Maohua Xia Yanqiang Yin Yucun Chen Wei Wang Ting Jia Yan Lu Tianchun Pu Chenglin Zhang Xiaoguang Li Liqin Wang Yunfang Xiu Lili Niu Jun Zhou Yang Du Yanhui Liu Suhui Xu |
| author_sort |
Yuyan You |
| title |
A novel missense mutation in the HSF4 gene of giant pandas with senile congenital cataracts |
| title_short |
A novel missense mutation in the HSF4 gene of giant pandas with senile congenital cataracts |
| title_full |
A novel missense mutation in the HSF4 gene of giant pandas with senile congenital cataracts |
| title_fullStr |
A novel missense mutation in the HSF4 gene of giant pandas with senile congenital cataracts |
| title_full_unstemmed |
A novel missense mutation in the HSF4 gene of giant pandas with senile congenital cataracts |
| title_sort |
novel missense mutation in the hsf4 gene of giant pandas with senile congenital cataracts |
| publisher |
Nature Portfolio |
| publishDate |
2021 |
| url |
https://doaj.org/article/4ab9236ffd9b46af9de4e26bef808816 |
| work_keys_str_mv |
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