Work

Sox1 directly regulates the gamma -crystallin genes and is essential for lens development in mice

Year: 1998

Type: preprint

Abstract: gamma-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 gamma-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 of gamma-crystallins. It appears that the direct interaction of the SOX1 protein with a promoter element conserved in all gamma-crystallin genes is responsible for their expression.

Source: Genes & Development

DOI: 10.1101/gad.12.6.776

Authors: S. Nishiguchi, H. Wood, H. Kondoh, R. Lovell-Badge, V. Episkopou

Institutions: Hammersmith Hospital, National Institute for Medical Research, Medical Research Council, The University of Osaka

Language: English

Topic: Ocular Disorders and Treatments

Subfield: Ophthalmology

Field: Medicine

Domain: Health Sciences

Open Access status: bronze

Funder: Medical Research Council

OpenAlex ID: W2169913534

Cites: 29

Cited by: 297

Related to: 10