title: Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns.
abstract: BACKGROUND
  Cystinosis is an autosomal recessive disorder characterised by an intralysosomal accumulation of cystine, and affected individuals progress to end-stage renal failure before the age of ten. The causative gene, CTNS, was cloned in 1998 and the encoded protein, cystinosin, was predicted to be a lysosomal membrane protein.
  
  
  RESULTS
  We have cloned the murine homologue of CTNS, Ctns, and the encoded amino acid sequence is 92.6% similar to cystinosin. We localised Ctns to mouse chromosome 11 in a region syntenic to human chromosome 17 containing CTNS. Ctns is widely expressed in all tissues tested with the exception of skeletal muscle, in contrast to CTNS.
  
  
  CONCLUSIONS
  We have isolated, characterised and localised Ctns, the murine homologue of CTNS underlying cystinosis. Furthermore, our work has brought to light the existence of a differential pattern of expression between the human and murine homologues, providing critical information for the generation of a mouse model for cystinosis.
authors: Inserm U423,Université René Descartes, Hôpital Necker-Enfants Malades, 75743 Paris Cedex 15, France. cherqui@necker.fr
authors: S
authors: S
authors: Cherqui
authors: V
authors: V
authors: Kalatzis
authors: L
authors: L
authors: Forestier
authors: I
authors: I
authors: Poras
authors: C
authors: C
authors: Antignac