Literature DB >> 23670788

Crystal structure of the cataract-causing P23T γD-crystallin mutant.

Fangling Ji1, Leonardus M I Koharudin, Jinwon Jung, Angela M Gronenborn.   

Abstract

Up to now, efforts to crystallize the cataract-associated P23T mutant of human γD-crystallin have not been successful. Therefore, insights into the light scattering mechanism of this mutant have been exclusively obtained from solution work. Here we present the first crystal structure of the P23T mutant at 2.5 Å resolution. The protein exhibits essentially the same overall structure as seen for the wild-type protein. Based on our structural data, we confirm that no major conformational changes are caused by the mutation, and that solution phase properties of the mutant appear exclusively associated with cataract formation.
Copyright © 2013 Wiley Periodicals, Inc.

Entities:  

Keywords:  P23T crystallin mutant; cataract; crystal structure

Mesh:

Substances:

Year:  2013        PMID: 23670788      PMCID: PMC3852438          DOI: 10.1002/prot.24321

Source DB:  PubMed          Journal:  Proteins        ISSN: 0887-3585


  34 in total

1.  The genetics of cataract: our vision becomes clearer.

Authors:  J F Hejtmancik
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

2.  Solvent content of protein crystals.

Authors:  B W Matthews
Journal:  J Mol Biol       Date:  1968-04-28       Impact factor: 5.469

3.  Structural and biochemical characterization of the childhood cataract-associated R76S mutant of human γD-crystallin.

Authors:  Fangling Ji; Jinwon Jung; Angela M Gronenborn
Journal:  Biochemistry       Date:  2012-03-14       Impact factor: 3.162

4.  Increase in surface hydrophobicity of the cataract-associated P23T mutant of human gammaD-crystallin is responsible for its dramatically lower, retrograde solubility.

Authors:  Ajay Pande; Kalyan S Ghosh; Priya R Banerjee; Jayanti Pande
Journal:  Biochemistry       Date:  2010-07-27       Impact factor: 3.162

5.  Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin.

Authors:  Ajay Pande; Onofrio Annunziata; Neer Asherie; Olutayo Ogun; George B Benedek; Jayanti Pande
Journal:  Biochemistry       Date:  2005-02-22       Impact factor: 3.162

6.  A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.

Authors:  Li-Yun Zhang; Bo Gong; Jian-Ping Tong; Dorothy Shu-Ping Fan; Sylvia Wai-Yee Chiang; Dinghua Lou; Dennis Shun-Chiu Lam; Gary Hin-Fai Yam; Chi-Pui Pang
Journal:  Mol Vis       Date:  2009-08-06       Impact factor: 2.367

7.  High-resolution X-ray crystal structures of human gammaD crystallin (1.25 A) and the R58H mutant (1.15 A) associated with aculeiform cataract.

Authors:  Ajit Basak; Orval Bateman; Christine Slingsby; Ajay Pande; Neer Asherie; Olutayo Ogun; George B Benedek; Jayanti Pande
Journal:  J Mol Biol       Date:  2003-05-16       Impact factor: 5.469

8.  Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.

Authors:  K P Burdon; M G Wirth; D A Mackey; I M Russell-Eggitt; J E Craig; J E Elder; J L Dickinson; M M Sale
Journal:  Br J Ophthalmol       Date:  2004-01       Impact factor: 4.638

9.  Structure of bovine eye lens gammaD (gammaIIIb)-crystallin at 1.95 A.

Authors:  Y N Chirgadze; H P Driessen; G Wright; C Slingsby; R E Hay; P F Lindley
Journal:  Acta Crystallogr D Biol Crystallogr       Date:  1996-07-01

10.  Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families.

Authors:  Arif O Khan; Mohammed A Aldahmesh; Faisal E Ghadhfan; Saleh Al-Mesfer; Fowzan S Alkuraya
Journal:  Mol Vis       Date:  2009-07-24       Impact factor: 2.367

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  11 in total

1.  Assessing the Structures and Interactions of γD-Crystallin Deamidation Variants.

Authors:  Alex J Guseman; Matthew J Whitley; Jeremy J González; Nityam Rathi; Mikayla Ambarian; Angela M Gronenborn
Journal:  Structure       Date:  2020-12-01       Impact factor: 5.006

2.  Temperature-Dependent Interactions Explain Normal and Inverted Solubility in a γD-Crystallin Mutant.

Authors:  Amir R Khan; Susan James; Michelle K Quinn; Irem Altan; Patrick Charbonneau; Jennifer J McManus
Journal:  Biophys J       Date:  2019-07-19       Impact factor: 4.033

3.  Wild-type human γD-crystallin promotes aggregation of its oxidation-mimicking, misfolding-prone W42Q mutant.

Authors:  Eugene Serebryany; Jonathan A King
Journal:  J Biol Chem       Date:  2015-03-18       Impact factor: 5.157

Review 4.  Lens β-crystallins: the role of deamidation and related modifications in aging and cataract.

Authors:  Kirsten J Lampi; Phillip A Wilmarth; Matthew R Murray; Larry L David
Journal:  Prog Biophys Mol Biol       Date:  2014-03-06       Impact factor: 3.667

5.  Aggregation of Trp > Glu point mutants of human gamma-D crystallin provides a model for hereditary or UV-induced cataract.

Authors:  Eugene Serebryany; Takumi Takata; Erika Erickson; Nathaniel Schafheimer; Yongting Wang; Jonathan A King
Journal:  Protein Sci       Date:  2016-04-18       Impact factor: 6.725

6.  Cumulative deamidations of the major lens protein γS-crystallin increase its aggregation during unfolding and oxidation.

Authors:  Calvin J Vetter; David C Thorn; Samuel G Wheeler; Charlie C Mundorff; Kate A Halverson; Thomas E Wales; Ujwal P Shinde; John R Engen; Larry L David; John A Carver; Kirsten J Lampi
Journal:  Protein Sci       Date:  2020-09       Impact factor: 6.725

7.  Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract.

Authors:  Donna S Mackay; Thomas M Bennett; Susan M Culican; Alan Shiels
Journal:  Hum Genomics       Date:  2014-11-18       Impact factor: 4.639

8.  Cataract-associated P23T γD-crystallin retains a native-like fold in amorphous-looking aggregates formed at physiological pH.

Authors:  Jennifer C Boatz; Matthew J Whitley; Mingyue Li; Angela M Gronenborn; Patrick C A van der Wel
Journal:  Nat Commun       Date:  2017-05-05       Impact factor: 14.919

Review 9.  Chemical Properties Determine Solubility and Stability in βγ-Crystallins of the Eye Lens.

Authors:  Megan A Rocha; Marc A Sprague-Piercy; Ashley O Kwok; Kyle W Roskamp; Rachel W Martin
Journal:  Chembiochem       Date:  2021-02-10       Impact factor: 3.164

10.  Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.

Authors:  Bin Li; Bin Lu; Xuewen Guo; Shenghui Hu; Guihu Zhao; Weihong Huang; Jianzhong Hu; Kun Song
Journal:  J Ophthalmol       Date:  2020-02-19       Impact factor: 1.909

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