Identification and Characterisation of the Murine Homologue of the Gene Responsible for Cystinosis, Ctns

Cherqui, Stéphanie; Kalatzis, Vasiliki; Forestier, Lionel; Poras, Isabelle; Antignac, Corinne
January 2000
BMC Genomics;2000, Vol. 1, p1
Academic Journal
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.


Related Articles

  • A newHansenula polymorpha HAP4homologue which contains only the N-terminal conserved domain of the protein is fully functional inSaccharomyces cerevisiae. Sybirna, K.; Guiard, B.; Li, Y.F.; Bao, W.G.; Bolotin-Fukuhara, M.; Delahodde, A. // Current Genetics;Mar2005, Vol. 47 Issue 3, p172 

    InSaccharomyces cerevisiae, the HAP transcriptional complex is involved in the fermentation-respiration shift. This complex is composed of four subunits. Three subunits are necessary for DNA-binding, whereas the Hap4p subunit, glucose-repressed, contains the transcriptional activation domain....

  • Fast model-based protein homology detection without alignment. Sepp Hochreiter; Martin Heusel; Klaus Obermayer // Bioinformatics;Jul2007, Vol. 23 Issue 14, p1728 

    Motivation: As more genomes are sequenced, the demand for fast gene classification techniques is increasing. To analyze a newly sequenced genome, first the genes are identified and translated into amino acid sequences which are then classified into structural or functional classes. The...

  • Flexible mapping of homology onto structure with Homolmapper. Rockwell, Nathan C; Lagarias, J Clark // BMC Bioinformatics;2007, Vol. 8, p123 

    Background: Over the past decade, a number of tools have emerged for the examination of homology relationships among protein sequences in a structural context. Most recent software implementations for such analysis are tied to specific molecular viewing programs, which can be problematic for...

  • Using Phylogeny to Improve Genome-Wide Distant Homology Recognition. Abeln, Sanne; Teubner, Carlo; Deane, Charlotte M. // PLoS Computational Biology;Jan2007, Vol. 3 Issue 1, p73 

    The gap between the number of known protein sequences and structures continues to widen, particularly as a result of sequencing projects for entire genomes. Recently there have been many attempts to generate structural assignments to all genes on sets of completed genomes using fold-recognition...

  • A COMPUTATIONAL ANALYSIS ON THE EFFECT OF DELETERIOUS nsSNPs IN GALE GENE. Kanthappan, Ramavartheni; Sethumadhavan, Rao // International Journal of Pharma & Bio Sciences;Jan-Mar2010, Vol. 1 Issue 1, p1 

    Single nucleotide polymorphisms (SNPs), present in the protein encoding regions of the genome can have a profound influence on the structure and function of a protein. In this work, we have analyzed the mutations that can alter the function of the GALE gene through computational methods with the...

  • Case study: using sequence homology to identify putative phosphorylation sites in an evolutionarily distant species (honeybee). Trost, Brett; Napper, Scott; Kusalik, Anthony // Briefings in Bioinformatics;Sep2015, Vol. 16 Issue 5, p820 

    The majority of scientific resources are devoted to studying a relatively small number of model species, meaning that the ability to translate knowledge across species is of considerable importance. Obtaining species-specific knowledge enables targeted investigations of the biology and...

  • Targeting Protein-Protein Interactions for Parasite Control. Taylor, Christina M.; Fischer, Kerstin; Abubucker, Sahar; Zhengyuan Wang; Martin, John; Daojun Jiang; Magliano, Marc; Rosso, Marie-Noëlle; Ben-Wen Li; Fischer, Peter U.; Mitreva, Makedonka // PLoS ONE;2011, Vol. 6 Issue 4, p1 

    Finding new drug targets for pathogenic infections would be of great utility for humanity, as there is a large need to develop new drugs to fight infections due to the developing resistance and side effects of current treatments. Current drug targets for pathogen infections involve only a single...

  • Metatranscriptomics reveals unique microbial small RNAs in the ocean’s water column. Shi, Yanmei; Tyson, Gene W.; DeLong, Edward F. // Nature;5/14/2009, Vol. 459 Issue 7244, p266 

    Microbial gene expression in the environment has recently been assessed via pyrosequencing of total RNA extracted directly from natural microbial assemblages. Several such ‘metatranscriptomic’ studies have reported that many complementary DNA sequences shared no significant homology...

  • A Gene Having Sequence Homology to Isoamyl Alcohol Oxidase Is Transcribed During Patulin Production in Penicillium griseofulvum. Dombrink-Kurtzman, Mary Ann // Current Microbiology;Mar2008, Vol. 56 Issue 3, p224 

    The genes for the patulin biosynthetic pathway are most likely arranged in a cluster, as is often the case for other mycotoxins. With this in mind, GeneWalking has been performed to identify genes both upstream and downstream of the isoepoxydon dehydrogenase ( idh) gene. A gene present in...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics