TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa

Nat Genet. 1998 Feb;18(2):177-9. doi: 10.1038/ng0298-177.


The RP14 autosomal recessive Retinitis pigmentosa (arRP) locus has been mapped to a 2cM region of chromosome 6p21.3. TULP1 (the gene encoding tubby-like protein 1) is a candidate target for the disease mutation because it maps to the RP14 minimum genetic region and because a mutation in the highly homologous mouse tub gene leads to obesity, deafness and early progressive retinal degeneration. Here we report a splice-site mutation (IVS14+1, G-->A) that is homozygous in all affected individuals (N=33) and heterozygous in all obligate carriers (N=50) from two RP14-linked kindreds. The mutation was not observed in 210 unrelated controls. The data indicate that impairment of TULP1 protein function is a rare cause of arRP and that the normal protein plays an essential role in the physiology of the retina.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Conserved Sequence
  • DNA Primers
  • Dominican Republic
  • Eye Proteins / genetics*
  • Female
  • Genes, Recessive*
  • Genetic Carrier Screening
  • Homozygote
  • Humans
  • Male
  • Mice
  • Mice, Mutant Strains
  • Molecular Sequence Data
  • Pedigree
  • Polymerase Chain Reaction
  • Retinitis Pigmentosa / genetics*


  • DNA Primers
  • Eye Proteins
  • TULP1 protein, human
  • Tulp1 protein, mouse

Associated data

  • GENBANK/AF034919
  • GENBANK/AF034920
  • GENBANK/AF034921
  • GENBANK/AF034922
  • GENBANK/AF034923
  • GENBANK/H92408