Retinal Degeneration slow (rds) in Mouse Results from Simple Insertion of a t Haplotype-Specific Element into Protein-Coding Exon II

• Published in: Genomics (San Diego, Calif.) Vol. 28; no. 2; pp. 212 - 219
• Main Authors: Ma, Jianshan, Norton, James C., Allen, Ann C., Burns, Jeffrey B., Hasel, Karl W., Burns, John L., Sutcliffe, J.Gregor, Travis, Gabriel H.
• Format: Journal Article
• Language: English
• Published: San Diego, CA Elsevier Inc 20-07-1995; Elsevier
• Subjects: Alleles; Amino Acid Sequence; Animals; Base Sequence; Biological and medical sciences; Classical genetics, quantitative genetics, hybrids; DNA Transposable Elements; DNA, Complementary - genetics; Exons - genetics; Eye Proteins - genetics; Eye Proteins - metabolism; Fundamental and applied biological sciences. Psychology; Gene Library; Genes; Genetics of eukaryotes. Biological and molecular evolution; Haplotypes - genetics; Intermediate Filament Proteins - genetics; Intermediate Filament Proteins - metabolism; Membrane Glycoproteins; Mice; Mice, Inbred BALB C; Mice, Neurologic Mutants - genetics; Molecular Sequence Data; Mutagenesis, Insertional; Nerve Tissue Proteins; Peripherins; Retinal Degeneration - genetics; Vertebrata; Animal model; Retinopathy; Nucleotide sequence; Retinitis pigmentosa; Rodentia; Silent allele; Intermediate filament; Genetic disease; Proteins; Eye disease; Vertebrata; Mammalia; Gene; Mouse; Insertion mutation; Peripherin
• DOI: 10.1006/geno.1995.1133
• EISSN: 1089-8646
• ISSN: 0888-7543

Retinal degeneration slow (rds) is a semidominant mutation of mice that causes dysplasia and degeneration of rod and cone photoreceptors. Mutations in RDS, the human ortholog of the rds gene, are responsible for several inherited retinal dystrophies including a subset of retinitis pigmentosa. The normal rds locus encodes rds/peripherin, an integral membrane glycoprotein present in outer segment discs. Genomic libraries from wildtype and rds/rds mice were screened with an rds cDNA, and phage λ clones that span the normal and mutant loci were mapped. We show that in mice, rds is caused by the insertion into exon II of a 9.2-kb repetitive genomic element that is very similar to the t haplotype-specific element in the H-2 complex. The entire element is included in the RNA products of the mutant locus. We present evidence that rds in mice represents a null allele.