Sox1 directly regulates the γ-crystallin genes and is essential for lens development in mice
- Laboratory of Embryology, Medical Research Council (MRC) Clinical Sciences Centre, Hammersmith Hospital, London W12 0NN, UK; Institute for Molecular and Cellular Biology, Osaka University, Suita, Osaka 565, Japan; Division of Developmental Genetics, MRC National Institute for Medical Research, London, NW7 1AA, UK
Abstract
γ-Crystallins are major structural components of the lens fiber cells in amphibians and mammals. Many dominant inherited cataracts in humans and mice have been shown to map within the γ-crystallin gene cluster. Several transcription factors, including PAX6 and SOX proteins, have been suggested as candidates for crystallin gene regulation. Here we show that the targeted deletion of Sox1 in mice causes microphthalmia and cataract. Mutant lens fiber cells fail to elongate, probably as a result of an almost complete absence ofγ-crystallins. It appears that the direct interaction of the SOX1 protein with a promoter element conserved in all γ-crystallin genes is responsible for their expression.
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↵Corresponding author.
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E-MAIL vepiskop{at}rpms.ac.uk; FAX 44-181-383-8338.
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- Received November 28, 1997.
- Accepted January 21, 1998.
- Cold Spring Harbor Laboratory Press
