Novel missense mutation of major intrinsic protein gene in congenital cataract

2020 ◽  
Vol 48 (7) ◽  
pp. 996-998
Author(s):  
Wen Sun ◽  
Jiawei Xu ◽  
Yan Sheng ◽  
Yangshun Gu ◽  
Chixin Du
Keyword(s):  
Missense Mutation ◽  
Congenital Cataract ◽  
Protein Gene ◽  
Major Intrinsic Protein ◽  
Intrinsic Protein

A Novel Missense Mutation in the Gene Encoding Major Intrinsic Protein (MIP) in a Giant Panda with Unilateral Cataract Formation

2020 ◽  
Author(s):  
Chao Bai ◽  
Yuyan You ◽  
Xuefeng Liu ◽  
Maohua Xia ◽  
Wei Wang ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Conformational Changes ◽  
Giant Panda ◽  
Ailuropoda Melanoleuca ◽  
Major Intrinsic Protein ◽  
Gene Encoding ◽  
Functional Candidate Gene ◽  
Intrinsic Protein ◽  
Age Related ◽  
Unilateral Cataract

Abstract Background: Cataracts 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. Results: Here 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.Conclusion: The 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.

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

BMC Genomics ◽  
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Chao Bai ◽  
Yuyan You ◽  
Xuefeng Liu ◽  
Maohua Xia ◽  
Wei Wang ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Conformational Changes ◽  
Giant Panda ◽  
Ailuropoda Melanoleuca ◽  
Major Intrinsic Protein ◽  
Gene Encoding ◽  
Functional Candidate Gene ◽  
Intrinsic Protein ◽  
Age Related ◽  
Unilateral Cataract

Abstract Background Cataracts 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. Results Here 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. Conclusion The 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.

scholarly journals Structure and transcriptional regulation of the major intrinsic protein gene family in grapevine

BMC Genomics ◽  
2018 ◽  
Vol 19 (1) ◽  
Author(s):  
Darren Chern Jan Wong ◽  
Li Zhang ◽  
Isabelle Merlin ◽  
Simone D. Castellarin ◽  
Gregory A. Gambetta
Keyword(s):  
Transcriptional Regulation ◽  
Gene Family ◽  
Protein Gene ◽  
Major Intrinsic Protein ◽  
Intrinsic Protein

Molecular cloning and expression analysis of major intrinsic protein gene in Chlamydomonas sp. ICE-L from Antarctica

Extremophiles ◽  
2017 ◽  
Vol 21 (4) ◽  
pp. 817-827
Author(s):  
Lulu Li ◽  
Meiling An ◽  
Changfeng Qu ◽  
Zhou Zheng ◽  
Yibin Wang ◽  
...  
Keyword(s):  
Molecular Cloning ◽  
Expression Analysis ◽  
Protein Gene ◽  
Cloning And Expression ◽  
Major Intrinsic Protein ◽  
Intrinsic Protein ◽  
Chlamydomonas Sp

scholarly journals A Novel Missense Mutation in the Gene Encoding Major Intrinsic Protein (MIP) in a Giant Panda with Cataracts

2020 ◽  
Author(s):  
chao bai ◽  
Yuyan You ◽  
Xuefeng Liu ◽  
Maohua Xia ◽  
Wei Wang ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Conformational Changes ◽  
Giant Panda ◽  
Fluid Transport ◽  
Ailuropoda Melanoleuca ◽  
Major Intrinsic Protein ◽  
Gene Encoding ◽  
Functional Candidate Gene ◽  
Intrinsic Protein ◽  
Age Related

Abstract Background: Cataracts 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 sporadic acquired (age-related) lesions. Results: Here 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. , whichThis 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.229S>Np.S229N) in the C-terminal tail of the protein, and modeling revealed predicts that the mutation- induced induces conformational changes that may interfere with lens permeability and cell–cell interactions. Conclusion: The c.686G>A mutation was found in a captive giant panda with a unilateral cataract but not in 18 controls from diverse regions of in China, suggesting that c.686G>Ait is likely to bemost likely a genuine disease-causing associated mutation rather than a single-nucleotide polymorphism 5 regions was used in this research. Conclusions: The c.686G>A mutation was not found in healthy pandas, suggesting itThe mutation could therefore serve as a new genetic marker to predict the risk of congenital cataracts in captive giant pandas.

scholarly journals A Novel Missense Mutation in the Gene Encoding Major Intrinsic Protein (MIP) in a Giant Panda with Cataracts

2020 ◽  
Author(s):  
Chao Bai ◽  
Yuyan You ◽  
Xuefeng Liu ◽  
Maohua Xia ◽  
Wei Wang ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Conformational Changes ◽  
Giant Panda ◽  
Fluid Transport ◽  
Ailuropoda Melanoleuca ◽  
Major Intrinsic Protein ◽  
Gene Encoding ◽  
Functional Candidate Gene ◽  
Intrinsic Protein ◽  
Age Related

Abstract Background : Cataracts 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 sporadic (age-related) lesions.Results: Here we used a functional candidate gene-screening approach to identify mutations associated with cataracts in a captive giant panda ( Ailuropoda melanoleuca ). We identified a novel missense mutation ( c.686G>A) in the MIP gene encoding major intrinsic protein, which 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.229S>N ) in the C-terminal tail of the protein, and modeling revealed that mutation-induced conformational changes may interfere with lens permeability and cell–cell interactions.Conclusions: The mutation was not found in healthy pandas, suggesting it could serve as a new informative marker to predict the risk of congenital cataracts in captive giant pandas.

Genome-wide Characterization of Major Intrinsic Protein (MIP) Gene Family in Brachypodium distachyon

2018 ◽  
Vol 13 (5) ◽  
pp. 536-552 ◽  
Author(s):  
Ankush Ashok Saddhe ◽  
Shweta ◽  
Kareem A. Mosa ◽  
Kundan Kumar ◽  
Manoj Prasad ◽  
...  
Keyword(s):  
Gene Family ◽  
Brachypodium Distachyon ◽  
Major Intrinsic Protein ◽  
Intrinsic Protein ◽  
Genome Wide

scholarly journals Lens Major Intrinsic Protein (MIP)/Aquaporin 0 Expression in Rat Lens Epithelia Explants Requires Fibroblast Growth Factor-induced ERK and JNK Signaling

2004 ◽  
Vol 279 (30) ◽  
pp. 31813-31822 ◽  
Author(s):  
Nady Golestaneh ◽  
Jianguo Fan ◽  
Robert N. Fariss ◽  
Woo-Kuen Lo ◽  
Peggy S. Zelenka ◽  
...  
Keyword(s):  
Growth Factor ◽  
Fibroblast Growth Factor ◽  
Fibroblast Growth ◽  
Major Intrinsic Protein ◽  
Jnk Signaling ◽  
Intrinsic Protein
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