Genomes and Genes
beta crystallin b chain
Summary: The basic subunit of beta-crystallins.
- Zhang Z, Smith D, Smith J. Human beta-crystallins modified by backbone cleavage, deamidation and oxidation are prone to associate. Exp Eye Res. 2003;77:259-72 pubmed..The greater solubility of beta-crystallins compared with alpha- and gamma-crystallins in aging lenses may be due to beta-crystallin modifications and their non-covalent associations. ..
- Harms M, Wilmarth P, Kapfer D, Steel E, David L, Bachinger H, et al. Laser light-scattering evidence for an altered association of beta B1-crystallin deamidated in the connecting peptide. Protein Sci. 2004;13:678-86 pubmed..We conclude that deamidation creates unique effects depending upon where the deamidation is introduced in the crystallin structure. ..
- Van Montfort R, Bateman O, Lubsen N, Slingsby C. Crystal structure of truncated human betaB1-crystallin. Protein Sci. 2003;12:2606-12 pubmed..The crystal structure shows that the truncated betaB1 dimer is extremely well suited to form higher-order lattice interactions using its hydrophobic surface patches, linker regions, and sequence extensions. ..
- Liu B, Liang J. Domain interaction sites of human lens betaB2-crystallin. J Biol Chem. 2006;281:2624-30 pubmed..The V60E and V144E mutants were found to be partially unfolded and incapable of forming a complete dimer. ..
- Liu B, Liang J. Interaction and biophysical properties of human lens Q155* betaB2-crystallin mutant. Mol Vis. 2005;11:321-7 pubmed..The Q155* mutation in betaB2-crystallin causes changes in biophysical properties that might contribute to cataract formation. ..
- Hejtmancik J, Wingfield P, Sergeev Y. Beta-crystallin association. Exp Eye Res. 2004;79:377-83 pubmed..As predicted by molecular modelling, the fraction of beta-Crystallin present as dimers increases with increasing temperature, implying that beta-crystallin association is entropically driven. ..
- Pauli S, Soker T, Klopp N, Illig T, Engel W, Graw J. Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene. Mol Vis. 2007;13:962-7 pubmed..The D128V mutation segregates only in affected family members and is not seen in representative controls. It represents the first mutation outside exon 6 of the human CRYBB2 gene. ..
- Yang J, Zhu Y, Gu F, He X, Cao Z, Li X, et al. A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract. Mol Vis. 2008;14:727-31 pubmed..This study has identified a novel nonsense mutation in CRYBB1 (p.Q223X) associated with autosomal dominant congenital nuclear cataract. ..
- Lampi K, Kim Y, Bachinger H, Boswell B, Lindner R, Carver J, et al. Decreased heat stability and increased chaperone requirement of modified human betaB1-crystallins. Mol Vis. 2002;8:359-66 pubmed..Deamidation and truncation of betaB1 led to destabilization of the protein and decreased stability to heat. Decreased stability of lens crystallins may contribute to their insolubilization and cataract formation. ..
- Lampi K, Ma Z, Shih M, Shearer T, Smith J, Smith D, et al. Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens. J Biol Chem. 1997;272:2268-75 pubmed..These studies were a prerequisite for future studies to determine how human lens proteins are altered during aging and cataract formation. ..
- Gill D, Klose R, Munier F, McFadden M, Priston M, Billingsley G, et al. Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2. Invest Ophthalmol Vis Sci. 2000;41:159-65 pubmed..The CCL and the cerulean cataract are two distinct clinical entities associated with the same genetic defect. This work provides evidence for a modifier factor that influences cataract formation and that remains to be identified. ..
- Robinson N, Lampi K, Speir J, Kruppa G, Easterling M, Robinson A. Quantitative measurement of young human eye lens crystallins by direct injection Fourier transform ion cyclotron resonance mass spectrometry. Mol Vis. 2006;12:704-11 pubmed..Direct injection FT(ICR)MS of unfractionated lens was found to be an excellent method for the quantitative measurement of lens crystallins. ..
- Chen X, Taube J, Simirskii V, Patel T, Duncan M. Dual roles for Prox1 in the regulation of the chicken betaB1-crystallin promoter. Invest Ophthalmol Vis Sci. 2008;49:1542-52 pubmed publisher..These data suggest that Prox1 function as a transcriptional activator could be regulated at the DNA level based on the characteristics of the responsive elements. ..
- Liedtke T, Schwamborn J, Schröer U, Thanos S. Elongation of axons during regeneration involves retinal crystallin beta b2 (crybb2). Mol Cell Proteomics. 2007;6:895-907 pubmed..The results suggest that neuronal crystallins constitute a novel class of neurite-promoting factors that likely operate through an autocrine mechanism and that they could be used in neurodegenerative diseases. ..
- Bateman J, von Bischhoffshaunsen F, Richter L, Flodman P, Burch D, Spence M. Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract. Ophthalmology. 2007;114:425-32 pubmed..Based on haplotype analyses, the mutation and variant are likely to be caused by independent gene conversions in our family and the previously reported families. ..
- Graw J, Loster J, Soewarto D, Fuchs H, Reis A, Wolf E, et al. Aey2, a new mutation in the betaB2-crystallin-encoding gene of the mouse. Invest Ophthalmol Vis Sci. 2001;42:1574-80 pubmed..Because an increasing number of beta- and gamma-crystallin mutations have been reported, a detailed phenotype-genotype correlation will allow a clearer functional understanding of beta- and gamma-crystallins. ..
- Willoughby C, Shafiq A, Ferrini W, Chan L, Billingsley G, Priston M, et al. CRYBB1 mutation associated with congenital cataract and microcornea. Mol Vis. 2005;11:587-93 pubmed..X253R is predicted to elongate the COOH-terminal extension of the protein and would be expected to disrupt beta-crystallin interactions. This is the first documented involvement of CRYBB1 in ocular development beyond cataractogenesis. ..
- Yao K, Tang X, Shentu X, Wang K, Rao H, Xia K. Progressive polymorphic congenital cataract caused by a CRYBB2 mutation in a Chinese family. Mol Vis. 2005;11:758-63 pubmed
- Regan L. Protein redesign. Curr Opin Struct Biol. 1999;9:494-9 pubmed
- Marin Vinader L, Onnekink C, van Genesen S, Slingsby C, Lubsen N. In vivo heteromer formation. Expression of soluble betaA4-crystallin requires coexpression of a heteromeric partner. FEBS J. 2006;273:3172-82 pubmed..We suggest that the proper folding of betaA4-crystallin is not mediated by general chaperones but requires a heteromeric partner, which then also acts as a dedicated chaperone towards betaA4-crystallin. ..
- Sturgill G, Bala E, Yaniglos S, Peachey N, Hagstrom S. Mutation screen of beta-crystallin genes in 274 patients with age-related macular degeneration. Ophthalmic Genet. 2010;31:129-34 pubmed publisher..Although variant alleles of the CRYBB1 and CRYBB2 genes were found, none are considered pathogenic. ..
- Clout N, Basak A, Wieligmann K, Bateman O, Jaenicke R, Slingsby C. The N-terminal domain of betaB2-crystallin resembles the putative ancestral homodimer. J Mol Biol. 2000;304:253-7 pubmed..These results support the view that the betagamma-crystallin superfamily has evolved by a series of gene duplication and fusion events from a single-domain ancestor capable of forming homodimers. ..
- Liu B, Liang J. Protein-protein interactions among human lens acidic and basic beta-crystallins. FEBS Lett. 2007;581:3936-42 pubmed..Circular dichroism indicates subtle differences in conformation among beta-crystallins that may have contributed to the differences in interactions. ..
- Chen X, Patel T, Simirskii V, Duncan M. PCNA interacts with Prox1 and represses its transcriptional activity. Mol Vis. 2008;14:2076-86 pubmed
- Takata T, Smith J, Arbogast B, David L, Lampi K. Solvent accessibility of betaB2-crystallin and local structural changes due to deamidation at the dimer interface. Exp Eye Res. 2010;91:336-46 pubmed publisher..The cumulative effects of multiple deamidation sites perturbing the structure both locally and distant from the site of deamidation may contribute to aggregation and precipitation during aging and cataractogenesis in the lens. ..
- Robinson N, Lampi K, McIver R, Williams R, Muster W, Kruppa G, et al. Quantitative measurement of deamidation in lens betaB2-crystallin and peptides by direct electrospray injection and fragmentation in a Fourier transform mass spectrometer. Mol Vis. 2005;11:1211-9 pubmed..This technique should allow convenient and reliable identification and quantitative measurement of specific deamidation sites that may play a role in aging and cataracts. ..
- Annunziata O, Pande A, Pande J, Ogun O, Lubsen N, Benedek G. Oligomerization and phase transitions in aqueous solutions of native and truncated human beta B1-crystallin. Biochemistry. 2005;44:1316-28 pubmed
- Wilmarth P, Taube J, Riviere M, Duncan M, David L. Proteomic and sequence analysis of chicken lens crystallins reveals alternate splicing and translational forms of beta B2 and beta A2 crystallins. Invest Ophthalmol Vis Sci. 2004;45:2705-15 pubmed..The complementary techniques 2-DE, mass spectrometry, and DNA sequencing were used to provide the most complete description of the adult chicken lens proteome to date and identified alternate forms of beta A2 and beta B2. ..
- Hejtmancik J, Wingfield P, Sergeev Y. Beta-crystallin association. Exp Eye Res. 2004;79:377-83 pubmed..As predicted by molecular modelling, the fraction of beta-crystallin present as dimers increases with increasing temperature, implying that beta-crystallin association is entropically driven. ..
- Srivastava O, Srivastava K. BetaB2-crystallin undergoes extensive truncation during aging in human lenses. Biochem Biophys Res Commun. 2003;301:44-9 pubmed..The beta(H)-crystallin fraction also contained single fragments of alpha-, betaA4-, gammas-, and other gamma-crystallins. ..
- Krivandin A, Muranov K, Poturaeva I, Polyanskii N, Ostrovsky M. A study of complex formation by alpha- and betaL-crystallins under UV irradiation. Dokl Biochem Biophys. 2006;409:229-32 pubmed
- Ganguly K, Favor J, Neuhäuser Klaus A, Sandulache R, Puk O, Beckers J, et al. Novel allele of crybb2 in the mouse and its expression in the brain. Invest Ophthalmol Vis Sci. 2008;49:1533-41 pubmed publisher..Moreover, expression analysis of Crybb2 identified for the first time distinct regions of expression in the brain, and the differential expression analysis points to the participation of Ca2+ in the corresponding pathologic processes. ..
- Hansen L, Mikkelsen A, Nurnberg P, Nurnberg G, Anjum I, Eiberg H, et al. Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Invest Ophthalmol Vis Sci. 2009;50:3291-303 pubmed publisher..Seven families have been published previously, and the data of the remaining 21 families are presented together with an overview of the results in all families...
- Diemer H, Atmanene C, Sanglier S, Morrissey B, Van Dorsselaer A, Downard K. Detection and structural features of the betaB2-B3-crystallin heterodimer by radical probe mass spectrometry (RP-MS). J Mass Spectrom. 2009;44:803-12 pubmed publisher..The results suggest that the betaB2 subunit adopts a more compacted form than in its monomeric form in order for much of its structure to be enveloped by the betaB3 subunit within the heterodimer. ..
- Udupa P, Sharma K. Effect of oxidized betaB3-crystallin peptide (152-166) on thermal aggregation of bovine lens gamma-crystallins: identification of peptide interacting sites. Exp Eye Res. 2005;80:185-96 pubmed..These results imply that oxidized betaB3-crystallin peptide interact with gamma-crystallins and enhance their aggregation and light scattering. ..
- McHaourab H, Kumar M, Koteiche H. Specificity of alphaA-crystallin binding to destabilized mutants of betaB1-crystallin. FEBS Lett. 2007;581:1939-43 pubmed..In the lens, where alpha-crystallin binding sites are not regenerated, this may represent an added mechanism to maintain lens transparency. ..
- Taube J, Gao C, Ueda Y, Zelenka P, David L, Duncan M. General utility of the chicken betaB1-crystallin promoter to drive protein expression in lens fiber cells of transgenic mice. Transgenic Res. 2002;11:397-410 pubmed..Thus, the chicken betaB1-crystallin promoter directs high level RNA expression to lens fiber cells, which may be especially useful for the expression of ribozyme and anti-sense RNAs in addition to ectopic proteins. ..
- Sathish H, Koteiche H, McHaourab H. Binding of destabilized betaB2-crystallin mutants to alpha-crystallin: the role of a folding intermediate. J Biol Chem. 2004;279:16425-32 pubmed..The ability of alpha-crystallin to detect subtle changes in the population of betaB2-crystallin excited states supports a central role for this chaperone in delaying aggregation and scattering in the lens. ..
- Meyer E, Rahman F, Owens J, Pasha S, Morgan N, Trembath R, et al. Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract. Mol Vis. 2009;15:1014-9 pubmed..In addition, although a number of genetic causes of autosomal dominant pulverulent cataracts have been identified (including CRYBB1) this is the first gene to have been implicated in autosomal recessive nuclear pulverulent cataract. ..
- Saraswathy S, Rao N. Mitochondrial proteomics in experimental autoimmune uveitis oxidative stress. Invest Ophthalmol Vis Sci. 2009;50:5559-66 pubmed publisher..The presence of high levels of alphaA and betaB2 crystallin in the mitochondria may prevent cell death during early EAU. ..
- Kumar M, Koteiche H, Claxton D, McHaourab H. Disulfide cross-links in the interaction of a cataract-linked alphaA-crystallin mutant with betaB1-crystallin. FEBS Lett. 2009;583:175-9 pubmed publisher..Covalent protein cross-links are a hallmark of age-related cataract and may be a factor in its inherited form. ..
- Senthilkumar R, Chaerkady R, Sharma K. Identification and properties of anti-chaperone-like peptides derived from oxidized bovine lens betaL-crystallins. J Biol Chem. 2002;277:39136-43 pubmed..These data suggest that the polypeptides generated after oxidation and proteolysis of betaL-crystallins interact with denaturing proteins and facilitate their aggregation and light scattering, thus behaving like anti-chaperones. ..
- An Q, Liu G. Molecular cloning, sequence identification, and tissue expression profile analysis of three novel porcine genes: SDHB, SNRPA and CRYBB1. Mol Biol Rep. 2009;36:683-90 pubmed publisher..Our experiment is the first to establish the primary foundation for further research on these three swine genes. ..
- Muller C, Distl O. Linkage and association analyses of intragenic SNPs in the canine beta-crystallin genes CRYBB1, CRYBB2, CRYBB3, CRYBA1 and CRYBA4 with primary cataracts in wire-haired Dachshunds. Anim Genet. 2008;39:87-8 pubmed
- Kroeber M, Ohlmann A, Russell P, Tamm E. Transgenic studies on the role of optineurin in the mouse eye. Exp Eye Res. 2006;82:1075-85 pubmed..Our results show that optineurin is a cytoplasmatic rather than a secretory protein that is preferentially expressed in retinal ganglion cells, and argue against a major role of optineurin for the modulation of apoptosis in vivo. ..
- Kapphahn R, Giwa B, Berg K, Roehrich H, Feng X, Olsen T, et al. Retinal proteins modified by 4-hydroxynonenal: identification of molecular targets. Exp Eye Res. 2006;83:165-75 pubmed..These results identify a common subset of proteins that contain HNE adducts and suggest that select retinal proteins are molecular targets for HNE modification. ..
- Jobby M, Sharma Y. Rapid purification of recombinant betaB2-crystallin using hydrophobic interaction chromatography. Protein Expr Purif. 2003;28:158-64 pubmed..Over all, the present protocol provides a rapid, efficient and simplified procedure for the preparation of betaB2-crystallin in large yield, sufficient for structural and functional studies. ..
- Chen L, Holland G, Yu F, Levinson R, Lampi K, Horwitz J, et al. Associations of seroreactivity against crystallin proteins with disease activity and cataract in patients with uveitis. Invest Ophthalmol Vis Sci. 2008;49:4476-81 pubmed publisher..The relationship between the presence of specific anti-crystallin antibodies and active inflammation may indicate a role for these autoantibodies in uveitis pathogenesis. ..
- Viteri G, Edwards A, de la Fuente J, Silva E. Study of the interaction between triplet riboflavin and the alpha-, betaH- and betaL-crystallins of the eye lens. Photochem Photobiol. 2003;77:535-40 pubmed..The correlations found in this study confirm the importance of the Type-I photosensitizing mechanism of the crystallins, when RF acts as a sensitizer at low oxygen concentration, as can occur in the eye lens. ..
- Boros S, Wilmarth P, Kamps B, de Jong W, Bloemendal H, Lampi K, et al. Tissue transglutaminase catalyzes the deamidation of glutamines in lens betaB(2)- and betaB(3)-crystallins. Exp Eye Res. 2008;86:383-93 pubmed publisher..These data together suggest that tTG can contribute to the age-related deamidation of glutamine residues of lens crystallins. ..
- Wang L, Lin H, Gu J, Su H, Huang S, Qi Y. Autosomal-dominant cerulean cataract in a chinese family associated with gene conversion mutation in beta-B2-crystallin. Ophthalmic Res. 2009;41:148-53 pubmed publisher..2:c.471C>T, in CRYBB2 are identical to the sequence of CRYBB2P1, which has over 97% homology to CRYBB2. This supports the possibility of gene conversion between CRYBB2 and CRYBB2P1 as a mechanism responsible for congenital cataract. ..
- Jobby M, Sharma Y. Calcium-binding to lens betaB2- and betaA3-crystallins suggests that all beta-crystallins are calcium-binding proteins. FEBS J. 2007;274:4135-47 pubmed..Our results have important implications for understanding the calcium-related cataractogenesis and maintenance of ionic homeostasis in the lens. ..