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  1. R. M. Menghani,
  2. T. Somasundaram,
  3. S. Bhat
  1. David Geffen School of Medicine at UCLA, Los Angeles, CA


Cataract is a debilitating condition that has significant genetic propensity. Mutations in the HSF-4 gene have been reported to be associated with the most prevalent form of autosomal dominant childhood cataract. HSF-4 (heat shock transcription factor 4) is a member of the family of heat shock transcription factors that regulate the expression of heat shock proteins in response to various physical and chemical stresses. Recently, our laboratory has shown that expression of HSF-4 gene is developmentally controlled and predominantly expressed in postnatal lens, corresponding to the appearance of cataractogenesis in early childhood; it is also the only HSF present in ocular lens. The HSF-4 gene is known to consist of 13 to 14 exons, and a number of alternately spliced transcripts have been cloned in our laboratory. We have used RNA isolated from U373 human glioblastoma cells and performed RT-PCR using specific primers to evaluate the presence of alternately spliced transcripts. The specific primers used enclosed the regions of exons 7, 9, and 11 in the HSF-4 gene. Preliminary data suggest the existence of a number of alternatively spliced HSF-4 RNAs. Further analysis will include cloning of these transcripts and quantitative estimation and characterization of the possible gene products that may result from these transcripts. The existence of various isoforms generated via alternative splicing may have physiological consequences in the maintenance of transparency in the ocular lens and in the brain and retina.

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