Genomes and Genes
Gene Symbol: Cryba1
Description: crystallin, beta A1
Alias: BA3/A1, Cryb, beta-crystallin A1, beta-A1-crystallin, beta-A3/A1-crystallin
- Piatigorsky J, Wistow G. Enzyme/crystallins: gene sharing as an evolutionary strategy. Cell. 1989;57:197-9 pubmed
- Zigler J, Sinha D. ?A3/A1-crystallin: more than a lens protein. Prog Retin Eye Res. 2015;44:62-85 pubmed publisher..We have explored possible functions for the polypeptides (?A3-and ?A1-crystallins) encoded by Cryba1, one of the 6 ?-crystallin genes, using a spontaneous rat mutant and genetically engineered mouse models...
- Valapala M, Wilson C, Hose S, Bhutto I, Grebe R, Dong A, et al. Lysosomal-mediated waste clearance in retinal pigment epithelial cells is regulated by CRYBA1/?A3/A1-crystallin via V-ATPase-MTORC1 signaling. Autophagy. 2014;10:480-96 pubmed publisher..We found that in RPE cells, CRYBA1/?A3/A1-crystallin, a lens protein also expressed in RPE, is localized to lysosomes, where it regulates ..
- Valapala M, Hose S, Gongora C, Dong L, Wawrousek E, Samuel Zigler J, et al. Impaired endolysosomal function disrupts Notch signalling in optic nerve astrocytes. Nat Commun. 2013;4:1629 pubmed publisher..We postulate that ?A3/A1-crystallin is essential for normal endolysosomal acidification, and thereby, normal activation of Notch signalling in astrocytes. ..
- Sinha D, Valapala M, Bhutto I, Patek B, Zhang C, Hose S, et al. ?A3/A1-crystallin is required for proper astrocyte template formation and vascular remodeling in the retina. Transgenic Res. 2012;21:1033-42 pubmed publisherNuc1 is a spontaneous rat mutant resulting from a mutation in the Cryba1 gene, coding for ?A3/A1-crystallin...
- Hirano M, Yamamoto A, Yoshimura N, Tokunaga T, Motohashi T, Ishizaki K, et al. Generation of structures formed by lens and retinal cells differentiating from embryonic stem cells. Dev Dyn. 2003;228:664-71 pubmed..The present culture system opens up the possibility of examining early stages of eye development and also of producing cells for use in cellular therapy for various diseases of the eye. ..
- Hegde S, Kesterson R, Srivastava O. CRYÎ²A3/A1-Crystallin Knockout Develops Nuclear Cataract and Causes Impaired Lysosomal Cargo Clearance and Calpain Activation. PLoS ONE. 2016;11:e0149027 pubmed publisher..These defects are responsible for the development of nuclear cataract in KO lenses. ..
- Valapala M, Edwards M, Hose S, Hu J, Wawrousek E, Lutty G, et al. Î²A3/A1-crystallin is a critical mediator of STAT3 signaling in optic nerve astrocytes. Sci Rep. 2015;5:8755 pubmed publisherWe have previously reported that in the Nuc1 rat, which has a spontaneous mutation in Cryba1 (the gene encoding Î²A3/A1-crystallin), astrocytes exhibit decreased Notch signaling, leading to reduced promoter activity for glial fibrillary ..
- JI W, Tang X, Yi M, Chen P, Liu F, Hu X, et al. p53 directly regulates ?A- and ?A3/A1-crystallin genes to modulate lens differentiation. Curr Mol Med. 2013;13:968-78 pubmed..Together, our results reveal that p53 directly regulates expression of different sets of genes to control lens differentiation. ..
- Ivakine E, Fox C, Paterson A, Mortin Toth S, Canty A, Walton D, et al. Sex-specific effect of insulin-dependent diabetes 4 on regulation of diabetes pathogenesis in the nonobese diabetic mouse. J Immunol. 2005;174:7129-40 pubmed..Additional studies will be required to address the question of whether a sex-specific effect of Idd4, observed in this study, is also present in the spontaneous model of the disease with striking female bias. ..
- Kim S, Cheong C, Sohn Y, Goo Y, Oh W, Park J, et al. Multiple developmental defects derived from impaired recruitment of ASC-2 to nuclear receptors in mice: implication for posterior lenticonus with cataract. Mol Cell Biol. 2002;22:8409-14 pubmed..Our results provide a novel insight into the molecular and histopathological mechanism of posterior lenticonus with cataract and attest to the importance of ASC-2 as a pivotal transcriptional coactivator of nuclear receptors in vivo...
- Inana G, Shinohara T, Maizel J, Piatigorsky J. Evolution and diversity of the crystallins. Nucleotide sequence of a beta-crystallin mRNA from the mouse lens. J Biol Chem. 1982;257:9064-71 pubmed..The internally homologous amino acids have been preferentially conserved among the three crystallin chains, a fact consistent with the possibility that these lens proteins arose from a common precursor gene that internally duplicated. ..
- Morgenbesser S, Schreiber Agus N, Bidder M, Mahon K, Overbeek P, Horner J, et al. Contrasting roles for c-Myc and L-Myc in the regulation of cellular growth and differentiation in vivo. EMBO J. 1995;14:743-56 pubmed..As a direct corollary, our data indicate that L-Myc and c-Myc are involved in distinct physiological processes in the same cell type. ..
- Yang Y, Womack J. Human chromosome 17 comparative anchor loci are conserved on bovine chromosome 19. Genomics. 1995;27:293-7 pubmed
- Robinson M, Overbeek P, Verran D, Grizzle W, Stockard C, Friesel R, et al. Extracellular FGF-1 acts as a lens differentiation factor in transgenic mice. Development. 1995;121:505-14 pubmed..The transgenic induction of differentiation confirms that normal lens morphology reflects an asymmetric distribution of inductive factors within the eye. ..
- Le T, Conley K, Mead T, Rowan S, Yutzey K, Brown N. Requirements for Jag1-Rbpj mediated Notch signaling during early mouse lens development. Dev Dyn. 2012;241:493-504 pubmed publisher..In addition, AP2?-Cre-mediated deletion of Rbpj resulted in embryos with cardiac outflow tract and liver deformities, and perinatal lethality. ..
- Nordsmark M, Maxwell R, Horsman M, Bentzen S, Overgaard J. The effect of hypoxia and hyperoxia on nucleoside triphosphate/inorganic phosphate, pO2 and radiation response in an experimental tumour model. Br J Cancer. 1997;76:1432-9 pubmed
- Yoshimoto A, Saigou Y, Higashi Y, Kondoh H. Regulation of ocular lens development by Smad-interacting protein 1 involving Foxe3 activation. Development. 2005;132:4437-48 pubmed..26 kb promoter, and are separate from lens-specific regulation. This is the first demonstration of the significance of Smad interaction in modulating Sip1 activity. ..
- Lovicu F, Overbeek P. Overlapping effects of different members of the FGF family on lens fiber differentiation in transgenic mice. Development. 1998;125:3365-77 pubmed
- Valapala M, Sergeev Y, Wawrousek E, Hose S, Zigler J, Sinha D. Modulation of V-ATPase by Î²A3/A1-Crystallin in Retinal Pigment Epithelial Cells. Adv Exp Med Biol. 2016;854:779-84 pubmed publisher..physiological functions of Î²A3/A1-crystallin in RPE cells, we generated conditional knockout (cKO) mice where Cryba1, the gene encoding Î²A3/A1-crystallin, is deleted specifically from the RPE using the Cre-loxP system...
- Min J, Zhang Y, Moskophidis D, Mivechi N. Unique contribution of heat shock transcription factor 4 in ocular lens development and fiber cell differentiation. Genesis. 2004;40:205-17 pubmed..Thus, HSF4 fulfills a central role in controlling spatial and temporal expression of genes critical for correct development and function of the lens. ..
- Peterson C, Piatigorsky J. Preferential conservation of the globular domains of the beta A3/A1-crystallin polypeptide of the chicken eye lens. Gene. 1986;45:139-47 pubmed
- Morgenbesser S, Williams B, Jacks T, DePinho R. p53-dependent apoptosis produced by Rb-deficiency in the developing mouse lens. Nature. 1994;371:72-4 pubmed..This developmental system provides a framework for understanding the consequences of the frequent mutation of both RB and p53 in human cancer. ..
- Griffin C, Muggleton Harris A. Localisation of the beta crystallin Cryb gene to mouse Chromosome 2B-->C1 by in situ hybridisation. Cytogenet Cell Genet. 1992;61:141-2 pubmedThe beta crystallin gene Cryb (betaA3/A1) has been assigned to mouse Chromosome 2 region B-->Cl by in situ hybridisation to metaphase chromosomes from mouse foetal liver and bone marrow preparations of Rb(2...
- Sergeev Y, Hejtmancik J, Wingfield P. Energetics of domain-domain interactions and entropy driven association of beta-crystallins. Biochemistry. 2004;43:415-24 pubmed
- Ren S, Liu T, Jia C, Qi X, Wang Y. Physiological expression of lens ?-, ?-, and ?-crystallins in murine and human corneas. Mol Vis. 2010;16:2745-52 pubmed..The expression levels depended on the animal strains or cell status. The physiologic and pathological significance of lens crystallins in corneas deserves more investigation. ..
- Xiao W, Liu W, Li Z, Liang D, Li L, White L, et al. Gene expression profiling in embryonic mouse lenses. Mol Vis. 2006;12:1692-8 pubmed..Analysis of global gene expression profiles in embryonic mouse lenses has allowed us to identify several molecular pathways that are differentially regulated during early lens development. ..
- Ring B, Cordes S, Overbeek P, Barsh G. Regulation of mouse lens fiber cell development and differentiation by the Maf gene. Development. 2000;127:307-17 pubmed..Our results indicate that Maf directly activates many if not all of the (beta)-crystallin genes, and suggest a model for coordinating cell cycle withdrawal with terminal differentiation. ..
- Sakuma K, Watanabe K, Totsuka T, Kato K. Pathological changes in levels of three small stress proteins, alphaB crystallin, HSP 27 and p20, in the hindlimb muscles of dy mouse. Biochim Biophys Acta. 1998;1406:162-8 pubmed
- Nishiguchi S, Wood H, Kondoh H, Lovell Badge R, Episkopou V. Sox1 directly regulates the gamma-crystallin genes and is essential for lens development in mice. Genes Dev. 1998;12:776-81 pubmed..It appears that the direct interaction of the SOX1 protein with a promoter element conserved in all gamma-crystallin genes is responsible for their expression. ..
- Werner P, Raducha M, Prociuk U, Henthorn P, Patterson D. Physical and linkage mapping of human chromosome 17 loci to dog chromosomes 9 and 5. Genomics. 1997;42:74-82 pubmed..9 (CFA9), an acrocentric chromosome of medium size: P4HB, GALK1, TK1, GH1, MYL4, BRCA1, RARA, THRA1, MPO, NF1, and CRYBA1. Eight of these were also positioned on a linkage map spanning 38.6 cM...
- Shang P, Valapala M, Grebe R, Hose S, Ghosh S, Bhutto I, et al. The amino acid transporter SLC36A4 regulates the amino acid pool in retinal pigmented epithelial cells and mediates the mechanistic target of rapamycin, complex 1 signaling. Aging Cell. 2017;16:349-359 pubmed publisher..In Cryba1 (gene encoding ?A3/A1-crystallin) KO (knockout) mice, where PAT4 and amino acid levels are increased in the RPE, ..
- Jin C, Chen J, Meng Q, Carreira V, Tam N, Geh E, et al. Deciphering gene expression program of MAP3K1 in mouse eyelid morphogenesis. Dev Biol. 2013;374:96-107 pubmed publisher..Using LCM and expression array, our studies have uncovered novel molecular signatures of MAP3K1 in embryonic eyelid closure. ..
- Inana G, Piatigorsky J, Norman B, Slingsby C, Blundell T. Gene and protein structure of a beta-crystallin polypeptide in murine lens: relationship of exons and structural motifs. Nature. 1983;302:310-5 pubmed..Our results indicate structural homology among the beta- and gamma-crystallin polypeptides, and link gene structure with protein structure in this superfamily of lens proteins. ..
- Ma Z, Yao W, Chan C, Kannabiran C, Wawrousek E, Hejtmancik J. Human Î²A3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells. Biochim Biophys Acta. 2016;1862:1214-27 pubmed publisher..215+1G>A splice mutation in the Î²A3/A1-crystallin gene CRYBA1 was elucidated using three transgenic mice models...
- Ghosh S, Shang P, Yazdankhah M, Bhutto I, Hose S, Montezuma S, et al. Activating the AKT2-nuclear factor-ÎºB-lipocalin-2 axis elicits an inflammatory response in age-related macular degeneration. J Pathol. 2017;241:583-588 pubmed publisher..Copyright Â© 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. ..
- Klemenz R, Andres A, Fröhli E, Schafer R, Aoyama A. Expression of the murine small heat shock proteins hsp 25 and alpha B crystallin in the absence of stress. J Cell Biol. 1993;120:639-45 pubmed..The expression of hsp25 and alpha B crystallin in normal tissues suggests an essential, but distinct function of the two related proteins under standard physiological conditions. ..
- Nehls M, Lüno K, Schorpp M, Pfeifer D, Krause S, Matysiak Scholze U, et al. YAC/P1 contigs defining the location of 56 microsatellite markers and several genes across a 3.4-cM interval on mouse chromosome 11. Mamm Genome. 1995;6:321-31 pubmed..In the cryb1/Nf1 interval of the central contig, several new genes have been identified by exon trapping and precisely localized with respect to known STS markers. ..
- Lachke S, Alkuraya F, Kneeland S, Ohn T, Aboukhalil A, Howell G, et al. Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. Science. 2011;331:1571-6 pubmed publisher..These findings demonstrate a role for RGs in vertebrate organogenesis...
- Liu Y, Kawai K, Khashabi S, Deng C, Liu Y, Yiu S. Inactivation of Smad4 leads to impaired ocular development and cataract formation. Biochem Biophys Res Commun. 2010;400:476-82 pubmed publisher..Smad4 is required for the development and maintenance of the lens in addition to the proper development of the cornea, eyelids, and retina. ..
- Medina Martinez O, Shah R, Jamrich M. Pitx3 controls multiple aspects of lens development. Dev Dyn. 2009;238:2193-201 pubmed publisher..In general, our study shows that the abnormal phenotype of the ak lenses is not due to just one molecular pathway, rather in the absence of Pitx3 expression multiple aspects of lens development are disrupted. ..
- Dimanlig P, Faber S, Auerbach W, Makarenkova H, Lang R. The upstream ectoderm enhancer in Pax6 has an important role in lens induction. Development. 2001;128:4415-24 pubmed..This pathway forms a basis for future analysis of lens induction mechanism. ..
- Liu Y, Zacksenhaus E. E2F1 mediates ectopic proliferation and stage-specific p53-dependent apoptosis but not aberrant differentiation in the ocular lens of Rb deficient fetuses. Oncogene. 2000;19:6065-73 pubmed..Thus, inactivation of E2F1 reduces ectopic cell proliferation and stage-specific p53-dependent apoptosis but does not rescue the differentiation defects associated with loss of Rb during lens development. ..
- Wigle J, Chowdhury K, Gruss P, Oliver G. Prox1 function is crucial for mouse lens-fibre elongation. Nat Genet. 1999;21:318-22 pubmed..Our data provide evidence that the progression of terminal fibre differentiation and elongation is dependent on Prox1 activity during lens development. ..
- Hulsebos T, Gilbert D, Delattre O, Smink L, Dunham I, Westerveld A, et al. Assignment of the beta B1 crystallin gene (CRYBB1) to human chromosome 22 and mouse chromosome 5. Genomics. 1995;29:712-8 pubmed..These assignments complete the mapping and identification of the human and mouse homologues of the major beta crystallins genes that are expressed in the bovine lens. ..
- Valapala M, Edwards M, Hose S, Grebe R, Bhutto I, Cano M, et al. Increased Lipocalin-2 in the retinal pigment epithelium of Cryba1 cKO mice is associated with a chronic inflammatory response. Aging Cell. 2014;13:1091-4 pubmed publisher..It accumulates significantly with age in retinal pigment epithelial (RPE) cells of Cryba1 conditional knockout (cKO) mice, but not in control mice...
- 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..4 cM) and proximal to D11Mit36 (2.3 +/- 2.3 cM). This position makes the betaA3/A1-crystallin encoding gene Cryba1 an excellent candidate gene. Mouse Cryba1 was amplified from lens mRNA...
- Schurr E, Skamene E, Nesbitt M, Hynes R, Gros P. Identification of a linkage group including the Bcg gene by restriction fragment length polymorphism analysis. Curr Top Microbiol Immunol. 1988;137:310-5 pubmed
- 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..Two of them are lens fiber cell structural proteins: the Cryba1 locus encoding crystallinbetaA3/A1 maps to chromosome 11, 2.5 +/- 2...