Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse Export

@article{14556008, abstract = {Cayman ataxia is a recessive congenital ataxia restricted to one area of Grand Cayman Island. Comparative mapping suggested that the locus on 19p13.3 associated with Cayman ataxia might be homologous to the locus on mouse chromosome 10 associated with the recessive ataxic mouse mutant jittery. Screening genes in the region of overlap identified mutations in a novel predicted gene in three mouse jittery alleles, including the first mouse mutation caused by an Alu-related (B1 element) insertion. We found two mutations exclusively in all individuals with Cayman ataxia. The gene ATCAY or Atcay encodes a neuron-restricted protein called caytaxin. Caytaxin contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in another protein containing a CRAL-TRIO domain, alpha-tocopherol transfer protein (TTPA), cause a vitamin E-responsive ataxia. Three-dimensional protein structural modeling predicts that the caytaxin ligand is more polar than vitamin E. Identification of the caytaxin ligand may help develop a therapy for Cayman ataxia.}, author = {Bomar, J. M. and Benke, P. J. and Slattery, E. L. and Puttagunta, R. and Taylor, L. P. and Seong, E. and Nystuen, A. and Chen, W. and Albin, R. L. and Patel, P. D. and Kittles, R. A. and Sheffield, V. C. and Burmeister, M.}, citeulike-article-id = {2090139}, journal = {Nat Genet}, keywords = {endnote, frda}, number = {3}, pages = {264--9}, posted-at = {2007-12-11 15:06:52}, priority = {2}, title = {Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse}, volume = {35}, year = {2003} }

TY - JOUR ID - 14556008 L3 - citeulike-article-id:2090139 N2 - Cayman ataxia is a recessive congenital ataxia restricted to one area of Grand Cayman Island. Comparative mapping suggested that the locus on 19p13.3 associated with Cayman ataxia might be homologous to the locus on mouse chromosome 10 associated with the recessive ataxic mouse mutant jittery. Screening genes in the region of overlap identified mutations in a novel predicted gene in three mouse jittery alleles, including the first mouse mutation caused by an Alu-related (B1 element) insertion. We found two mutations exclusively in all individuals with Cayman ataxia. The gene ATCAY or Atcay encodes a neuron-restricted protein called caytaxin. Caytaxin contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in another protein containing a CRAL-TRIO domain, alpha-tocopherol transfer protein (TTPA), cause a vitamin E-responsive ataxia. Three-dimensional protein structural modeling predicts that the caytaxin ligand is more polar than vitamin E. Identification of the caytaxin ligand may help develop a therapy for Cayman ataxia. IS - 3 JF - Nat Genet EP - 9 TI - Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse VL - 35 SP - 264 KW - endnote KW - frda AU - Bomar, JM AU - Benke, PJ AU - Slattery, EL AU - Puttagunta, R AU - Taylor, LP AU - Seong, E AU - Nystuen, A AU - Chen, W AU - Albin, RL AU - Patel, PD AU - Kittles, RA AU - Sheffield, VC AU - Burmeister, M PY - 2003/// ER -