| First Author | Cherqui S | Year | 2000 |
| Journal | BMC Genomics | Volume | 1 |
| Pages | 2 | PubMed ID | 11121245 |
| Mgi Jnum | J:66375 | Mgi Id | MGI:1928372 |
| Doi | 10.1186/1471-2164-1-2 | Citation | Cherqui S, et al. (2000) Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns. BMC Genomics 1(1):2 |
| abstractText | 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. |
