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Identification of a novel PAX6 gene mutation in an Aniridia patient

✍ Scribed by Iman Sahly; Marc Abitbol; Claudine Laurent; Imad Ghazi; Florence Ribeaudeau; Michel Vekemans; Jean-Louis Dufier

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
119 KB
Volume
7
Category
Article
ISSN
1059-7794

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✦ Synopsis

Aniridia is an autosomal dominant panocular disorder, characterized by hypoplasia of the iris. It is caused by mutations in the PAX6 gene. This gene encodes a 422-amino acid transcription factor. This protein includes paired and homeo domains, which bind DNA and a proline-serine and threonine-rich PST domain. Here we report an 8-bp duplication mutation (853ins8) in exon 10 within the PST domain of PAX6 in an aniridia patient. Instead of ACCTAGTCATATTCCT found in the normal PAX6 sequence, we found ACCTAGTCATAT-AGTCATAlTCCT in the mutant DNA. It disrupts codon 285 and causes a translational hameshift leading to a stop codon downstream. This results in the truncation of the C-terminal of PAX6 within the F' ST domain. Only four mutations were described so far in the PST domain of PAX6 in aniridia patients. They all leave the known DNA binding region intact, but truncate the protein and remove part of the PST-rich region. Recently, it was demonstrated that the PST domain is a strong transcriptional activator in vitro.

It stimulates the expression of a reporter gene when fused to the DNA-binding domain of the yeast GAL4 gene sequence .

If PAX6 is truncated within the PST domain, it may lack in vivo the transcriptional activiry of the PST domain. This would be sufficient to cause the aniridia phenotype.

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