GENOMIC STRUCTURE OF THE HUMAN PAX2 GENE

PAX2 is one of nine PAX genes that have been described in vertebrates. Each PAX gene contains a conserved paired box domain that was first i dentified in Drosophila. PAX2 encodes a transcription factor that has a critical role in the development of the urogenital tract, the eyes, and the CNS. Recently, we reported a mutation of PAX2 in patients with optic nerve coloboma, vesicoureteric reflux, and renal anomalies. To facilitate further analysis of PAX2 mutations in human disease, we hav e now determined the complete structure of the human PAX2 gene. Five g enomic lambda clones containing human PAX2 gene sequences were isolate d. Sequencing and restriction mapping of these clones showed that huma n PAX2 was composed of 12 exons spanning approximately 70 kb. Two alte rnatively spliced exons and a dinuclotide repeat polymorphism were als o determined in PAX2. These data will be useful in characterizing the role of PAX2 in human disease. (C) 1996 Academic Press, Inc.