Ra. Philibert et al., The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA), HUM GENET, 105(1-2), 1999, pp. 174-178
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.