RGD Reference Report - Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. - Rat Genome Database

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

Authors: Bomar, JM  Benke, PJ  Slattery, EL  Puttagunta, R  Taylor, LP  Seong, E  Nystuen, A  Chen, W  Albin, RL  Patel, PD  Kittles, RA  Sheffield, VC  Burmeister, M 
Citation: Bomar JM, etal., Nat Genet. 2003 Nov;35(3):264-9. Epub 2003 Oct 12.
RGD ID: 1599348
Pubmed: PMID:14556008   (View Abstract at PubMed)
DOI: DOI:10.1038/ng1255   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Ataxia  ISOAtcay (Mus musculus)1599348; 1599348DNA:insertions more ...RGD 
Ataxia  IAGP 1599348DNA:insertions more ...RGD 
cerebellar ataxia susceptibilityIAGP 1599348 RGD 
cerebellar ataxia susceptibilityISOATCAY (Homo sapiens)1599348; 1599348 RGD 
dystonia  ISOAtcay (Mus musculus)1599348; 1599348DNA:insertions more ...RGD 
dystonia  IAGP 1599348DNA:insertions more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Atcay  (ATCAY kinesin light chain interacting caytaxin)

Genes (Mus musculus)
Atcay  (ataxia, cerebellar, Cayman type)

Genes (Homo sapiens)
ATCAY  (ATCAY kinesin light chain interacting caytaxin)


Additional Information