© 1993 Oxford University Press
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Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation
1Department of Genetics, Research Institute, The Hospital for Sick Children 555 University Ave., Toronto, Ontario M5G 1X8 2Department of Molecular and Medical Genetics, University of Toronto Toronto, Ontario M5S 1A8, Canada
*Department of Genetics, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8 Canada
Received December 17, 1992; Revised January 28, 1993; Accepted January 28, 1993
Rom-1 and peripherin are related membrane proteins of the photoreceptor outer segments. Both proteins are located at the rims of the photoreceptor disks, where they may act jointly in disk biogenesis. Mutations in the gene (RDS) encoding peripherin cause autosomal dominant retinitis pigmentosa, autosomal dominant punctata albescens and butterfly macular degeneration in man, and retinal degeneration slow in mice. To facilitate ROM1 mutation and linkage analysis in inherited retinal diseases, we cloned and characterized the human and murine ROM1 genes. In both species, the ROM1 coding region is contained within 
1.8 kb of genomic DNA and is interrupted by only two introns. The structures of the ROM1 and RDS genes are similar, with perfect conservation of the intron splice sites. Putative transcription regulatory regions of the ROM1 locus, 5' to an apparent transcription start site, were identified by cloning the mouse Rom-1 gene and comparing the sequence to the human homologue. Alignment of the human and murine rom-1 predicted protein sequences with the peripherin polypeptides of four species reveals a high degree of conservation (47% overall identity between the six proteins) in the central hydrophilic domain of the two family members. Despite this conservation of sequence, the predicted pI's of only this region of rom-1 and peripherin differ substantially, being 5.2 and 8.2, respectively. The charge difference in this region may mediate the non-covalent association of these two proteins in vivo. The conserved genomic structure and sequence of ROM1 and RDS indicates that these genes evolved from a common ancestor by a duplication event.
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