The γ-Crystallins and Human Cataracts: A Puzzle Made Clearer
| Autor: | Elise Héon, Philippe Othenin Girard, Gail Billingsley, Nicolette H. Lubsen, Daniel F. Schorderet, Megan Priston, Francis L. Munier |
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| Rok vydání: | 1999 |
| Předmět: |
Male
Models Molecular genetic structures Pseudogene DNA Mutational Analysis Molecular Sequence Data Locus (genetics) Biology Blindness Gene Polymerase Chain Reaction Cataract Protein Structure Secondary Lens 03 medical and health sciences Exon 0302 clinical medicine Cataracts Crystallin Genetics medicine Humans Missense mutation Genetics(clinical) Amino Acid Sequence Promoter Regions Genetic Genetics (clinical) Mutation(s) 030304 developmental biology 0303 health sciences Polymorphism Genetic Sequence Homology Amino Acid Haplotype Gamma-crystallins Articles Congenital nuclear cataract medicine.disease Crystallins eye diseases Pedigree Protein Structure Tertiary Haplotypes 030221 ophthalmology & optometry Female sense organs |
| Zdroj: | The American Journal of Human Genetics. 65:1261-1267 |
| ISSN: | 0002-9297 |
| Popis: | Despite the fact that cataracts constitute the leading cause of blindness worldwide, the mechanisms of lens opacification remain unclear. We recently mapped the aculeiform cataract to the gamma-crystallin locus (CRYG) on chromosome 2q33-35, and mutational analysis of the CRYG-genes cluster identified the aculeiform-cataract mutation in exon 2 of gamma-crystallin D (CRYGD). This mutation occurred in a highly conserved amino acid and could be associated with an impaired folding of CRYGD. During our study, we observed that the previously reported Coppock-like-cataract mutation, the first human cataract mutation, in the pseudogene CRYGE represented a polymorphism seen in 23% of our control population. Further analysis of the original Coppock-like-cataract family identified a missense mutation in a highly conserved segment of exon 2 of CRYGC. These mutations were not seen in a large control population. There is no direct evidence, to date, that up-regulation of a pseudogene causes cataracts. To our knowledge, these findings are the first evidence of an involvement of CRYGC and support the role of CRYGD in human cataract formation. |
| Databáze: | OpenAIRE |
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