Structure and chromosomal localization of the gene encoding the human myelin protein zero (MPZ)

We describe the cloning, characterization, and chromosomal mapping of the human myelin protein zero (MPZ) gene. The gene is about 7 kb long and consists of six exons corresponding to the functional domains. All exon-intron junction sequences conform to the GT/AG rule. The 5'-flanking region of the gene has a TA-rich element (TATA-like box), two CAAT boxes, and a single defined transcription initiation site detected by the primer extension method. The gene for human MPZ was assigned to chromosome 1q22-q23 by spot blot hybridization of flow-sorted human chromosomes and fluorescence in situ hybridization. The localization of the MPZ gene coincides with the locus for Charcot-Marie-Tooth disease type 1B, determined by linkage analysis.