Journal article
Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse
Nature genetics, Vol.35(3), pp.264-269
11/2003
DOI: 10.1038/ng1255
PMID: 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.
Details
- Title: Subtitle
- Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse
- Creators
- Margit Burmeister - University of Michigan Medical SchoolRick A Kittles - National Human Genome Center at Howard UniversityRoger L Albin - University of Michigan Medical SchoolEunju Seong - University of Michigan Medical SchoolVal C Sheffield - Departments of Pediatrics and Human Genetics and Howard Hughes Medical Institute, University of IowaArne Nystuen - Departments of Pediatrics and Human Genetics and Howard Hughes Medical Institute, University of IowaPaul J Benke - Department of Pediatrics, University of MiamiEric L Slattery - University of Michigan Medical SchoolParesh D Patel - University of Michigan Medical SchoolRadhika Puttagunta - University of Michigan Medical SchoolLarry P Taylor - University of Michigan Medical SchoolJamee M Bomar - University of Michigan Medical SchoolWeidong Chen - National Human Genome Center at Howard University
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.35(3), pp.264-269
- DOI
- 10.1038/ng1255
- PMID
- 14556008
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Language
- English
- Date published
- 11/2003
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9984065387802771
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