A novel putative transporter maps to the osteosclerosis (oc) mutation and is not expressed in the oc mutant mouse

Genomics. 1999 Mar 15;56(3):254-61. doi: 10.1006/geno.1998.5722.

Abstract

The phenotype of mice homozygous for the osteosclerosis (oc) mutation includes osteopetrosis, and a variety of studies demonstrate that osteoclasts in these mice are present but nonfunctional. We have identified a novel gene that has homology to a family of 12-transmembrane domain proteins with transport functions and maps to proximal mouse chromosome 19, in a region to which the oc mutation has been previously assigned. The putative transporter is abundant in normal kidney, but its expression is markedly reduced in kidneys from oc/oc mice when tested using Northern and Western analyses. Southern analysis of this gene, which we call Roct (reduced in oc transporter), demonstrates that it is intact and unrearranged in oc/oc mice. In situ studies show that Roct is expressed in developing bone. We propose that the absence of Roct expression results in an osteopetrosis phenotype in mice.

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Blotting, Northern
  • Blotting, Western
  • Bone and Bones / anatomy & histology
  • Bone and Bones / metabolism
  • Carrier Proteins / genetics*
  • Drosophila Proteins*
  • Haplotypes
  • In Situ Hybridization
  • Kidney / anatomy & histology
  • Kidney / metabolism
  • Membrane Proteins / genetics
  • Membrane Transport Proteins*
  • Mice
  • Mice, Mutant Strains
  • Molecular Sequence Data
  • Organic Anion Transport Protein 1
  • Organic Anion Transporters*
  • Organic Anion Transporters, Sodium-Independent*
  • Organic Cation Transport Proteins*
  • Osteopetrosis / genetics
  • Osteosclerosis / genetics*
  • Polycystic Kidney Diseases / genetics
  • Polymorphism, Single-Stranded Conformational
  • Sequence Analysis, DNA
  • Sequence Homology, Amino Acid
  • Tissue Distribution

Substances

  • Carrier Proteins
  • Drosophila Proteins
  • Membrane Proteins
  • Membrane Transport Proteins
  • Orct protein, Drosophila
  • Organic Anion Transport Protein 1
  • Organic Anion Transporters
  • Organic Anion Transporters, Sodium-Independent
  • Organic Cation Transport Proteins
  • Slc22a6 protein, mouse
  • Slc22a7 protein, mouse
  • organic anion transport protein 3

Associated data

  • GENBANK/AF078869
  • GENBANK/AF078870