Genomes and Genes
beta crystallin a chain
Summary: The acidic 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. ..
- Srivastava O, Srivastava K. Characterization of a sodium deoxycholate-activatable proteinase activity associated with betaA3/A1-crystallin of human lenses. Biochim Biophys Acta. 1999;1434:331-46 pubmed..The mouse 22 kDa species also exhibited proteinase activity and immunoreactivity with anti-betaA3/A1-C-terminal antibody. Together, the data suggest that a truncated species of betaA3/A1-crystallin exhibits proteinase activity. ..
- 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. ..
- Takata T, Woodbury L, Lampi K. Deamidation alters interactions of beta-crystallins in hetero-oligomers. Mol Vis. 2009;15:241-9 pubmed
- Harrington V, McCall S, Huynh S, Srivastava K, Srivastava O. Crystallins in water soluble-high molecular weight protein fractions and water insoluble protein fractions in aging and cataractous human lenses. Mol Vis. 2004;10:476-89 pubmed..Further, the crystallin species of cataractous lenses showed increased truncation, deamidation of Asn to Asp residues, and oxidation of Trp residue. ..
- Takata T, Oxford J, Demeler B, Lampi K. Deamidation destabilizes and triggers aggregation of a lens protein, betaA3-crystallin. Protein Sci. 2008;17:1565-75 pubmed publisher..A potential mechanism may include decreased stability and/or altered interactions with other beta-subunits. Understanding the role of deamidation in the long-lived crystallins has important implications in other aggregation diseases. ..
- Ferrini W, Schorderet D, Othenin Girard P, Uffer S, Heon E, Munier F. CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype. Invest Ophthalmol Vis Sci. 2004;45:1436-41 pubmed..A splice mutation (IVS3+1G/A) in this gene has been reported in a zonular cataract with sutural opacities. These results indicate phenotypic heterogeneity related to mutations in this gene. ..
- Kannabiran C, Rogan P, Olmos L, Basti S, Rao G, Kaiser Kupfer M, et al. Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene. Mol Vis. 1998;4:21 pubmed..0 to -6.8 bits, so that splicing would not be expected to occur at the altered site. Taken together, these observations suggest that the observed mutation might be causally related to the cataracts in this family. ..
- Li F, Zhu S, Wang S, Gao C, Huang S, Zhang M, et al. Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts. Mol Vis. 2008;14:750-5 pubmed..These results provide evidence that CRYBB2 is a pathogenic gene for congenital cataracts; at the same time, congenital cataracts are a clinically and genetically heterogeneous lens condition. ..
- Johnson P, Brown M, Pulliam B, Anderson D, Johnson L. Synaptic pathology, altered gene expression, and degeneration in photoreceptors impacted by drusen. Invest Ophthalmol Vis Sci. 2005;46:4788-95 pubmed publisher..Reductions in photoreceptor cell densities over, and flanking, drusen suggest that these degenerative effects eventually result in the death of photoreceptors...
- Deng D, Tsalenko A, Vailaya A, Ben Dor A, Kundu R, Estay I, et al. Differences in vascular bed disease susceptibility reflect differences in gene expression response to atherogenic stimuli. Circ Res. 2006;98:200-8 pubmed..Our results strongly suggest that different inherent gene expression programs in arterial versus venous endothelial cells contribute to differences in atherosclerotic disease susceptibility. ..
- Dolinska M, Sergeev Y, Chan M, Palmer I, Wingfield P. N-terminal extension of beta B1-crystallin: identification of a critical region that modulates protein interaction with beta A3-crystallin. Biochemistry. 2009;48:9684-95 pubmed publisher..The loop is derived from residues 48-56 which appear to be critical for mediating protein interactions with betaA3-crystallin. ..
- Graw J, Jung M, Loster J, Klopp N, Soewarto D, Fella C, et al. Mutation in the betaA3/A1-crystallin encoding gene Cryba1 causes a dominant cataract in the mouse. Genomics. 1999;62:67-73 pubmed..The mutation will be referred to as Cryba1(po1). This particular mouse mutation provides an excellent animal model for a human congenital zonular cataract with suture opacities, which is caused by a mutation in the homologous gene. ..
- McDermott J, Peterson C, Piatigorsky J. Structure and lens expression of the gene encoding chicken beta A3/A1-crystallin. Gene. 1992;117:193-200 pubmed..abstract truncated at 250 words) ..
- 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. ..
- 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. ..
- Sinha D, Klise A, Sergeev Y, Hose S, Bhutto I, Hackler L, et al. betaA3/A1-crystallin in astroglial cells regulates retinal vascular remodeling during development. Mol Cell Neurosci. 2008;37:85-95 pubmed..Our data implicate betaA3/A1-crystallin as an important regulatory factor mediating vascular patterning and remodeling in the retina. ..
- Chen Q, Liu J, Horak K, Zheng H, Kumarapeli A, Li J, et al. Intrasarcoplasmic amyloidosis impairs proteolytic function of proteasomes in cardiomyocytes by compromising substrate uptake. Circ Res. 2005;97:1018-26 pubmed..Because of the central role of the UPS in cell regulation and the high intrasarcoplasmic amyloidosis prevalence in failing human hearts, our data suggest a novel pathogenic process in cardiac disorders with abnormal protein aggregation. ..
- 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. ..
- Qi Y, Jia H, Huang S, Lin H, Gu J, Su H, et al. [Autosomal dominant congenital nuclear cataract caused by a deletion mutation in the beta A1-crystallin gene]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003;20:486-9 pubmed..It is a deletion mutation DeltaG91 of CRYBA1 gene that causes autosomal dominant congenital nuclear cataract. This is the first report of an autosomal dominant congenital nuclear cataract caused by the mutation in this gene. ..
- Srivastava O, Srivastava K, Chaves J. Isolation and characterization of betaA3-crystallin associated proteinase from alpha-crystallin fraction of human lenses. Mol Vis. 2008;14:1872-85 pubmed..The enzyme proteolyzed alphaA-, alphaB-, gammaC-, and gammaD-crystallins and was present in three fractions (alpha-crystallin, beta(H)-crystallin, and membrane-fractions) of 60 to 70-year-old human lenses. ..
- Christis C, Lubsen N, Braakman I. Protein folding includes oligomerization - examples from the endoplasmic reticulum and cytosol. FEBS J. 2008;275:4700-27 pubmed publisher..This review focuses on protein folding in the endoplasmic reticulum, and discusses the challenge of oligomer formation in the endoplasmic reticulum as well as the cytosol. ..
- Gu Z, Ji B, Wan C, He G, Zhang J, Zhang M, et al. A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree. Mol Vis. 2010;16:154-60 pubmed..The same mutation in this gene had previously been reported to be associated with other phenotype cataracts. This study is the first report relating a mutation of CRYBA1/A3 to posterior polar cataract. ..
- Marti Masso J, Ruiz Martinez J, Bolaño M, Ruiz I, Gorostidi A, Moreno F, et al. Neuropathology of Parkinson's disease with the R1441G mutation in LRRK2. Mov Disord. 2009;24:1998-2001 pubmed publisher..Lewy bodies and Lewy neurites were absent. This is the first neuropathological study of PD associated with brain with the R1441G mutation in LRRK2. ..
- Hope J, Chen H, Hejtmancik J. Aggregation of beta A3-crystallin is independent of the specific sequence of the domain connecting peptide. J Biol Chem. 1994;269:21141-5 pubmed..We conclude that the sequence of the connecting peptide is not critical for the association of beta A3-crystallin into dimers and higher order aggregates as had been postulated. ..
- Yehiely F, Moyano J, Evans J, Nielsen T, Cryns V. Deconstructing the molecular portrait of basal-like breast cancer. Trends Mol Med. 2006;12:537-44 pubmed..Here, we focus on new insights into the molecular pathogenesis of basal-like breast cancer and explore how these discoveries might impact the treatment of these poor-prognosis tumors...
- Zhang X, Liu Y, Luo L, Wu M, Cheng G, Hu B. [Report of gene mutation hot spots analysis in one congenital cataract pedigree]. Yan Ke Xue Bao. 2004;20:131-4 pubmed..No mutation was found on the seventeen autosomal dominant mutation hot spots in all nineteen subjects. Preliminarily exclude the association of the seventeen published autosomal dominant mutation hot spots with ADCC in this family. ..
- 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. ..
- Singh D, Sueno T, Kikuchi T, Guru S, Yu S, Horwitz J, et al. Antibodies to a microbial peptide sharing sequence homology with betaA3-crystallin damage lens epithelial cells in vitro and in vivo. Autoimmunity. 1999;29:311-22 pubmed..Mice immunized with the recombinant E. coli developed LEC damage. These results support the hypothesis that exposure to microbes having Ags homologous to self Ags can trigger a humoral immune response that leads to LEC damage in mice. ..
- 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
- 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. ..
- 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. ..
- Lapko V, Smith D, Smith J. Expression of betaA2-crystallin in human lenses. Exp Eye Res. 2003;77:383-5 pubmed..Its molecular mass, M(r) 22 006, is consistent with the cDNA deduced sequence with addition of acetylation at the N-terminal serine residue. Approximately 20% of the protein is phosphorylated at Ser30. ..
- Gupta R, Srivastava O. Identification of interaction sites between human betaA3- and alphaA/alphaB-crystallins by mammalian two-hybrid and fluorescence resonance energy transfer acceptor photobleaching methods. J Biol Chem. 2009;284:18481-92 pubmed publisher..The results showed that the motifs III and IV of betaA3-crystallin were interactive with alphaA-crystallin, and motifs II and III of betaA3-crystallin primarily interacted with alphaB-crystallin. ..
- Honma Y, Tani M, Yamamura K, Takayama M, Hasegawa H. Preconditioning with heat shock further improved functional recovery in young adult but not in middle-aged rat hearts. Exp Gerontol. 2003;38:299-306 pubmed..Similarly neither HS alone nor in combination with PC restore PC effects in old rats with impaired PKC activation, despite the induction of HSP, indicating that induction of HSP is insufficient for cytoprotection. ..
- Ariza F, Harrison B, Drinkwater R. The assignment by linkage mapping of four genes from human chromosome 22 to bovine chromosome 5 and 17. Anim Genet. 2001;32:371-4 pubmed..The DNA marker genotypes were used to define linkage associations to other DNA markers already placed on the CSIRO linkage map. The genes TIMP3 and PVALB were assigned to BTA5 and CRYbetaA4 and MMP11 to BTA17. ..
- Kerscher S, Church R, Boyd Y, Lyon M. Mapping of four mouse genes encoding eye lens-specific structural, gap junction, and integral membrane proteins: Cryba1 (crystallin beta A3/A1), Crybb2 (crystallin beta B2), Gja8 (MP70), and Lim2 (MP19). Genomics. 1995;29:445-50 pubmed..5 +/- 2.5 cM proximal to Ngfg. All four map positions, when compared with the corresponding positions in human, lie within known regions of conserved synteny between mouse and human chromosomes. ..
- Xu J, Wong C, Tan X, Jing H, Zhou G, Song W. Decreasing the homodimer interaction: a common mechanism shared by the deltaG91 mutation and deamidation in betaA3-crystallin. Mol Vis. 2010;16:438-44 pubmed
- Zhou G, Zhou N, Hu S, Zhao L, Zhang C, Qi Y. A missense mutation in CRYBA4 associated with congenital cataract and microcornea. Mol Vis. 2010;16:1019-24 pubmed..A novel missense mutation in CRYBA4 was identified in our study. It expands the mutation spectrum of CRYBA4 and provides useful information to the study of molecular pathogenesis of cataract and microcornea. ..
- 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
- Hayes C, Sauer R. Cleavage of the A site mRNA codon during ribosome pausing provides a mechanism for translational quality control. Mol Cell. 2003;12:903-11 pubmed..When normal protein synthesis is compromised, A site mRNA cleavage and the tmRNA system provide a mechanism for reducing translational errors and the production of aberrant and potentially harmful polypeptides. ..