[HTML][HTML] Analysis of the VMD2 promoter and implication of E-box binding factors in its regulation

N Esumi, Y Oshima, Y Li, PA Campochiaro… - Journal of Biological …, 2004 - ASBMB
The retinal pigment epithelium (RPE) is crucial for the normal development and function of
retinal photo-receptors, and mutations in several genes that are preferentially expressed in
the RPE have been shown to cause retinal degeneration. We analyzed the 5′-up-stream
region of human VMD2, a gene that is preferentially expressed in the RPE and, when
mutated, causes Best macular dystrophy. Transgenic mouse studies with VMD2
promoter/lacZ constructs demonstrated that a-253 to+ 38 bp fragment is sufficient to direct …