Retinal degeneration slow (rds) in mouse results from simple insertion of a t haplotype-specific element into protein-coding exon II

Genomics. 1995 Jul 20;28(2):212-9. doi: 10.1006/geno.1995.1133.

Abstract

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 lambda 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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • DNA Transposable Elements*
  • DNA, Complementary / genetics
  • Exons / genetics
  • Eye Proteins / genetics*
  • Eye Proteins / metabolism
  • Gene Library
  • Genes*
  • 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*

Substances

  • DNA Transposable Elements
  • DNA, Complementary
  • Eye Proteins
  • Intermediate Filament Proteins
  • Membrane Glycoproteins
  • Nerve Tissue Proteins
  • PRPH protein, human
  • Peripherins
  • Prph2 protein, mouse
  • RDS protein, human

Associated data

  • GENBANK/L42167