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BMC Genomics. 2000;1:2. Epub 2000 Dec 6.

Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns.

Author information

1
Inserm U423,Université René Descartes, Hôpital Necker-Enfants Malades, 75743 Paris Cedex 15, France. cherqui@necker.fr

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.

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