PAX6 intronic sequence targets expression to the spinal cord

PAX6, a member of the family of highly conserved paired-box and homeobox genes, is highly conserved at both the protein and DNA levels. A conserved 216-bp Pax6 intron 4 sequence was found in human, mouse, and quail. Our transgenic mice experiments indicated that when under control of the human PAX6 promoter, the human 216-bp conserved sequence (ele4H) functioned as a spinal cord-specific enhancer. This enhancer can drive lacZ expression at the thoracic and lumbar levels of the spinal cord only when linked to a functional PAX6 promoter. These studies also suggested that PAX6 was not only conserved at the functional level, but at the transcriptional level as well.