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
Rok vydání: 1999
Předmět:
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