Structure of the bovine eye lens γs-crystallin gene (formerly βs)

Rens, Geert L. M. van; Raats, Jos; Driessen, H.P.C.; Oldenburg, M.; Wijnen, Juul T.; Khan, P. Meera; Jong, Wilfried W. de; Bloemendal, H.

doi:10.1016/0378-1119(89)90225-4

Cited by 37 publications

(11 citation statements)

References 37 publications

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“…The characteristic of the cataract in this family was the progressive appearance of opacities in secondary fibre cells, coinciding with the CRYGS expression pattern. [4][5][6] This gene therefore became an excellent candidate gene. The CRYGS gene spans 6 kb and includes three exons.…”

Section: Resultsmentioning

confidence: 99%

Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans

Sun

Ma²,

Li³

et al. 2005

Journal of Medical Genetics

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Section: Resultsmentioning

confidence: 99%

Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans

Sun

Ma²,

Li³

et al. 2005

Journal of Medical Genetics

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“…In terms of sequence and structure, ␥S is an outlying member of the ␥-crystallin family, and it has been suggested that it might represent a hypothetical ancestor of the ␥-crystallins, possibly predating their recruitment to the lens (35,48,49). This family in turn belongs to the wider ␤␥-crystallin superfamily, which has members in both prokaryotes and eukaryotes (14,50,51).…”

Section: Discussionmentioning

confidence: 99%

A Temperature-sensitive Mutation of Crygs in the Murine Opj Cataract

Sinha

Wyatt

Sarra

et al. 2001

Journal of Biological Chemistry

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In Opj, an inherited cataract in mice, opacity is associated with a mutation in Crygs, the gene for ␥S-crystallin, the first mutation to be associated with this gene. A single base change causes replacement of Phe-9, a key hydrophobic residue in the core of the N-terminal domain, by serine. Despite this highly non-conservative change, mutant protein folds normally at low temperature. However, it exhibits a marked, concentration-dependent decrease in solubility, associated with loss of secondary structure, at close to physiological temperatures. This is reminiscent of processes thought to occur in human senile cataracts in which normal proteins become altered and aggregate. The Opj cataract is progressive and more severe in Opj/Opj than in Opj/؉. Lens histology shows that whereas fiber cell morphology in Opj/؉ mice is essentially normal, in Opj/Opj, cortical fiber cell morphology and the loss of maturing fiber cell nuclei are both severely disrupted from early stages. This may indicate a loss of function of ␥S-crystallin which would be consistent with ideas that members of the ␤␥-crystallin superfamily may have roles associated with maintenance of cytoarchitecture.

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“…In Crygn, the first two Greek key motifs are encoded by individual exons (this is the Cryb type), but the remaining two by one single exon (it is the Cryg type). In contrast, the Crygs gene belongs from the genetic point of view clearly to the Cryg gene family; however, the biochemical feature (blocked N-terminus) caused its past designation as bs-crystallin [42]. In humans, two CRYGS mutations have been reported resulting in dominant juvenile cataracts, either cortical [43] or progressive [44].…”

Section: Genes Causing Juvenile Cataractmentioning

confidence: 99%

Clinical and experimental advances in congenital and paediatric cataracts

Churchill

Graw

2011

Phil. Trans. R. Soc. B

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Cataracts (opacities of the lens) are frequent in the elderly, but rare in paediatric practice. Congenital cataracts (in industrialized countries) are mainly caused by mutations affecting lens development. Much of our knowledge about the underlying mechanisms of cataractogenesis has come from the genetic analysis of affected families: there are contributions from genes coding for transcription factors (such as FoxE3, Maf, Pitx3) and structural proteins such as crystallins or connexins. In addition, there are contributions from enzymes affecting sugar pathways (particularly the galactose pathway) and from a quite unexpected area: axon guidance molecules like ephrins and their receptors. Cataractous mouse lenses can be identified easily by visual inspection, and a remarkable number of mutant lines have now been characterized. Generally, most of the mouse mutants show a similar phenotype to their human counterparts; however, there are some remarkable differences. It should be noted that many mutations affect genes that are expressed not only in the lens, but also in tissues and organs outside the eye. There is increasing evidence for pleiotropic effects of these genes, and increasing consideration that cataracts may act as early and readily detectable biomarkers for a number of systemic syndromes.

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Structure of the bovine eye lens γs-crystallin gene (formerly βs)

Cited by 37 publications

References 37 publications

Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans

Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans

A Temperature-sensitive Mutation of Crygs in the Murine Opj Cataract

Clinical and experimental advances in congenital and paediatric cataracts

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