A superfamily in the mammalian eye lens: theβ/γ-crystallins

Rens, Geert L. M. van; Jong, Wilfried W. de; Bloemendal, H.

doi:10.1007/bf00788747

Cited by 18 publications

(10 citation statements)

References 103 publications

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“…The β-crystallin family consists of seven proteins, βB1-, βB2-, βB3-, and βA4-crystallin on chromosome 22q11.2-13.1 (Hulsebos et al 1991, van Rens et al 1992, βA1/ A3-crystallin on 17q11.1-12 (Sparkes et al 1986) and βA2-crystallin on 2q33-35 (Hulsebos et al 1995). Different β-crystallin proteins can interact with each other to form oligomers of different sizes range from dimers to octamers (Werten et al 1996) and can also interact with other lens proteins.…”

Section: Discussionmentioning

confidence: 99%

A deletion mutation in the ?A1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family

Jia

Huang

et al. 2004

Human Genetics

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Congenital cataracts are an important cause of blindness worldwide. In a family of Chinese descent, a dominant congenital nuclear cataract locus was mapped to chromosome 17q11.1-12. The maximum LOD score, 2.49, at recombination fraction 0, was obtained for marker D17S1294. The results of both linkage and haplotype analyses defined a disease-gene to an 11.78-cM region harboring the gene coding for betaA1/A3 crystallin ( CRYBA1/A3). Mutation analysis of the CRYBA1/A3 gene identified a 3-bp deletion in exon 4, which cosegregated with the disease risk in this family and was not observed in 100 normal chromosomes. This mutation resulted in the deletion of a highly conserved glycine at codon 91 (DeltaG91) and could be associated with an incorrect folding of betaA1/A3 crystallin. It highlights the physiological importance of crystallin and supports the role of CRYBA1/A3 in human cataracts formation.

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Section: Discussionmentioning

confidence: 99%

A deletion mutation in the ?A1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family

Jia

Huang

et al. 2004

Human Genetics

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“…The well characterized founding members of the ␤␥-crystallin superfamily are lens ␤-and ␥-crystallins, which are major constituents of the vertebrate eye lens, rendering it with a high refractive index and transparency (for reviews, see Refs. [13][14][15][16][17][18]. As in the case of some other Ca 2ϩ -binding proteins (C2 domains, EGF domains, and cadherins), ␤␥-crystallins possess an all-␤ fold, made of strand exchanged Greek key motifs (19,20).…”

Section: ؉ -Binding Proteins: One Ligand Many Motifsmentioning

confidence: 99%

Ca2+-binding Motif of βγ-Crystallins

Srivastava¹,

Mishra

Krishnan³

et al. 2014

Journal of Biological Chemistry

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␤␥-Crystallin-type double clamp (N/D)(N/D)XX(S/T)S motif is an established but sparsely investigated motif for Ca2؉ binding. A ␤␥-crystallin domain is formed of two Greek key motifs, accommodating two Ca 2؉ -binding sites. ␤␥-Crystallins make a separate class of Ca 2؉ -binding proteins (CaBP), apparently a major group of CaBP in bacteria. Paralleling the diversity in ␤␥-crystallin domains, these motifs also show great diversity, both in structure and in function. Although the expression of some of them has been associated with stress, virulence, and adhesion, the functional implications of Ca 2؉ binding to ␤␥-crystallins in mediating biological processes are yet to be elucidated.

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“…8 Later, when more proteins had been identified to have a similar domain topology, 9,10 they were grouped as a protein superfamily called βγ-crystallins. 8,10,11 The βγ-crystallin superfamily is thought to be a sparsely distributed superfamily among various taxa, which includes highly diverse proteins found in both microbes and vertebrates. 12 An increase in the number of sequenced genomes has led to the identification of new member proteins of the βγ-crystallin superfamily.…”

Section: Introductionmentioning

confidence: 99%