Conversion and compensatory evolution of the [gamma]-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state

Article Abstract:

The autosomal dominant cataract (PCC)-affected pedigree is screened for mutations in the CRYGA-CRYGD genes and evolutionary and structural analysis is performed on the mutation and the [gamma]-crystallin gene family. The high rate of gene conversion between the functional CRYGD gene and two primate [gamma]-crystallin pseudogenes along with negative selection in primate pseudogenes has indicated an impact of pseudogenes involved in gene conversion in the [gamma]-crystallin gene cluster.

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Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome

Article Abstract:

The heterozygous de novo point mutations, a missense mutation (p.R217C) and a nonsense mutation (p.R197X), in the HCCS gene is identified in two female patients, from two families, with microphthalmia with linear skin defects syndrome. It is demonstrated that both mutant proteins (R217C and A197-268) are unable to complement a Saccharomyces cerevisiae mutant deficient for the HCCS orthologue Cyc3p, in contrast to wild type HCCS.

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CRYBA4, a novel human cataract gene, is also involved in microphthalmia

Article Abstract:

A novel cataract gene CRYBA4 is identified by genetic analysis of a family with an autosomal dominant cataract phenotype, and a pathogenic mutation is identified in exon 4 area of the gene. Mutational analysis reveals that CRYBA4 is associated with CRYBB2, the protein implicated in microphthalmia, thus demonstrating the role of CRYBA4 in both cataractogenesis and microphthalmia.

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