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Identification and Characterisation of the Murine Homologue of the Gene Responsible for Cystinosis, Ctns
Authors: Stéphanie Cherqui, Vasiliki Kalatzis, Lionel Forestier, Isabelle Poras, Corinne Antignac, WA Gahl, N Bashan, F Tietze, I Bernardini, JD Schulman, WA Gahl, JA Schneider, PP Aula, J Lemire, BS Kaplan, JA Schneider, B Katz, RB Melles, OL Pellett, ML Smith, AA Greene, JA Schneider, WA Gahl, GF Reed, JG Thoene, JD Schulman, WB Rizzo, AJ Jonas, DW Denman, JJ Schlesseman, BJ Corden, JA Schneider, TC Markello, IM Bernardini, WA Gahl, G Jean, A Fuchshuber, MM Town, O Gribouval, JA Schneider, M Broyer, W van't Hoff, P Niaudet, C Antignac, JW Touchman, Y Anikster, NL Dietrich, VV Braden Maduro, G McDowell, V Shotelersuk, GG Bouffard, M Beckstrom-Sternberg, WA Gahl, ED Green, M Town, G Jean, S Cherqui, M Attard, L Forestier, SA Whitmore, DF Callen, O Gribouval, M Broyer, GP Bates, W van't Hoff, C Antignac, J Theone, R Lemons, Y Anikster, J Mullet, K Paelicke, C Lucero, W Gahl, J Schneider, SG Shu, HT Campbell, M Attard, G Jean, L Forestier, S Cherqui, W van't Hoff, M Broyer, C Antignac, M Town, YA Anikster, C Lucero, J Guo, M Huizing, V Shotelersuk, I Bernardini, G McDowell, F Iwata, MI Kaiser-Kupfer, R Jaffe, P Rotwein, LJ Hall, M Gessler, GA Bruns, CK Stayner, HE Cunliffe, TA Ward, MR Eccles, LC McCarthy, J Terrett, ME Davis, CJ Knights, AL Smith, R Critcher, K Schmitt, J Hudson, NK Spurr, PN Goodfellow
Journal: BMC Genomics (2000)
Abstract
, was cloned in 1998 and the encoded protein, cystinosin, was predicted to be a lysosomal membrane protein. . 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.
Background
, was cloned in 1998 and the encoded protein, cystinosin, was predicted to be a lysosomal membrane protein.
Results
.
Conclusions
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.
Background
]. However, this treatment needs to be installed early on in the disease and at high doses, in order to be effective, and has a number of undesirable side effects.
.
Results and Discussion
cDNA primers 1.1 (5'-ACC AAG AAC CGG ATC CTG GGG CA-3') and 2.1 (5'-GCC CTC TTT CCT ACC TCC ACT TTC TGA-3'), coupled with the adaptor primer AP1, and the nested primers 1.2 (5'-GCA TTT TTC TCT CCG CGA GGC AC-3') and 2.2 (5'-GTC AAT CAG TAA GCT GCC CTG GAT G-3'), coupled with AP2, for the amplification of the 5' and 3' ends, respectively (Marathon-Ready cDNA kit, Clontech).
). The uncleavable signal peptide, seven amino-terminal N-glycosylation sites, seven transmembrane domains and lysosomal targetting signal of cystinosin are conserved in the murine sequence.
-0.26.
).
].
) Following hybridisation with a β-actin cDNA control probe, a 2.0 kb transcript can be seen for brain, spleen, lung, liver and kidney, a 2.0 kb and a 1.8 kb transcript can be seen for heart and testis, and a 1.8 kb transcript can be seen for skeletal muscle.
gene.
Conclusions
.
Acknowledgments
gene was part of a service offered by the EEC Mouse Mapping Consortium led by Philip Avner (Institut Pasteur, Paris, France). V. Kalatzis was supported by the Institut Electricité Santé. The work presented here was supported by grants from Vaincre les Maladies Lysosomales, INSERM (programme APEX), Association Française contre les Myopathies and Association pour l'Utilisation du Rein Artificel.
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