The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA)

We determined the genomic organization of the human OPA-containing gene (HO PA) and characterized its developmental expression. The gene encoding HOPA, which contains a rare polymorphism tightly associated with non-specific me ntal retardation, is 25 kb in length and consists of 44 exons. A promoter s can analysis demonstrates two possible transcription initiation sites witho ut TATA boxes upstream from the putative translation initiation start site. Several informative polymorphisms are evident in the sequence including a large pentanucleotide repeat. Northern blot analysis of the gene transcript and its murine orthologue, MOPA-1, demonstrates that only one transcript i s expressed throughout the soma and the CNS, and that the transcript is hig hly expressed during early fetal development. We conclude that the delineat ion of the function of the HOPA gene locus merits further study.