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Gene Review:

CRYGA - crystallin, gamma A

Homo sapiens

Synonyms: CRY-g-A, CRYG1, CRYG5, Gamma-A-crystallin, Gamma-crystallin 5, ...

Nandrot, E. et al., Santhiya, S.T. et al., Mackay, D.S. et al., Shentu, X. et al., Rogaev, E.I. et al., et al.

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Disease relevance of CRYGA

Sequencing of the coding regions of the CRYGA, B, C, and D genes showed the presence of a heterozygous C>A transversion in exon 2 of CRYGD that is associated with cataracts in this family [1].

High impact information on CRYGA

A tri-nucleotide microsatellite marker for gamma-crystallin B gene (CRYG1) was found to co-segregate with PCC and yielded a maximum lod score of 10.62 at (theta = 0) [2].
Trinucleotide repeat polymorphism at the CRYG1 locus [3].
METHODS: Nine Indian families, clinically documented to have congenital/childhood cataracts, were screened for mutations in candidate genes such as CRYG (A-->D), CRYBB2, and GJA8 by PCR analyses and sequencing [4].
Maximum lod scores are 4.56 (theta=0.02) with D2S157, 3.66 (theta=0.12) with D2S72, and 3.57 (theta=0.052) with CRYG [5].
In situ hybridization and linkage analysis have localized the arrestin gene to a region of 50 cM between CRYG alpha and D2S23/D2S55 on chromosome 2q24-37 [6].

Biological context of CRYGA

Haplotyping indicated that the disease gene lay in the approximate 10 Mb physical interval between D2S1384 and D2S128, containing the gamma-crystallin gene (CRYGA-CRYGD) cluster on chromosome 2q33.3-q34 [7].
Assignment of the human gamma-crystallin gene cluster (CRYG) to the long arm of chromosome 2, region q33-36 [8].
The maximum lod score (7.19 at recombination fraction theta=0) was obtained for marker D2S2208 near the gamma-crystallin gene (CRYG) cluster [1].
A single base-pair change in the CRYGA gene has been shown, leading to a premature stop codon [9].
It appeared to be caused by a missense mutation in the CRYGD gene, further supporting the notion that alterations to CRYG play an important factor in human cataract formation [10].

Other interactions of CRYGA

Our cell transfection experiments indicated that CRYG expression increases as Six3 expression decreases [11].

References

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. Nandrot, E., Slingsby, C., Basak, A., Cherif-Chefchaouni, M., Benazzouz, B., Hajaji, Y., Boutayeb, S., Gribouval, O., Arbogast, L., Berraho, A., Abitbol, M., Hilal, L. J. Med. Genet. (2003) [Pubmed]
Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35. Rogaev, E.I., Rogaeva, E.A., Korovaitseva, G.I., Farrer, L.A., Petrin, A.N., Keryanov, S.A., Turaeva, S., Chumakov, I., St George-Hyslop, P., Ginter, E.K. Hum. Mol. Genet. (1996) [Pubmed]
Trinucleotide repeat polymorphism at the CRYG1 locus. Hearne, C.M., Todd, J.A. Nucleic Acids Res. (1991) [Pubmed]
Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene. Santhiya, S.T., Manisastry, S.M., Rawlley, D., Malathi, R., Anishetty, S., Gopinath, P.M., Vijayalakshmi, P., Namperumalsamy, P., Adamski, J., Graw, J. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. Ren, Z., Li, A., Shastry, B.S., Padma, T., Ayyagari, R., Scott, M.H., Parks, M.M., Kaiser-Kupfer, M.I., Hejtmancik, J.F. Hum. Genet. (2000) [Pubmed]
Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172. Valverde, D., Bayés, M., Martínez, I., Grinberg, D., Vilageliu, L., Balcells, S., Gonzàlez-Duarte, R., Baiget, M. Hum. Genet. (1994) [Pubmed]
A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q. Mackay, D.S., Andley, U.P., Shiels, A. Mol. Vis. (2004) [Pubmed]
Assignment of the human gamma-crystallin gene cluster (CRYG) to the long arm of chromosome 2, region q33-36. Shiloh, Y., Donlon, T., Bruns, G., Breitman, M.L., Tsui, L.C. Hum. Genet. (1986) [Pubmed]
Further genetic heterogeneity for autosomal dominant human sutural cataracts. Klopp, N., Héon, E., Billingsley, G., Illig, T., Wjst, M., Rudolph, G., Graw, J. Ophthalmic Res. (2003) [Pubmed]
Special fasciculiform cataract caused by a mutation in the gammaD-crystallin gene. Shentu, X., Yao, K., Xu, W., Zheng, S., Hu, S., Gong, X. Mol. Vis. (2004) [Pubmed]
Antagonistic action of Six3 and Prox1 at the gamma-crystallin promoter. Lengler, J., Krausz, E., Tomarev, S., Prescott, A., Quinlan, R.A., Graw, J. Nucleic Acids Res. (2001) [Pubmed]

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CRYGA	Bos taurus
CRYGA	Canis lupus familiaris
crygmx	Danio rerio
CRYGA	Macaca mulatta
Cryga	Mus musculus
CRYGA	Pan troglodytes
Cryga	Rattus norvegicus

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