Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus.

ABSTRACT: BACKGROUND:Autosomal dominant optic atrophy type 1 (DOA) is the most common form of hereditary optic atrophy in human. We have previously identified the OPA1 gene and shown that it was mutated in patients with DOA. OPA1 is a novel member of the dynamin GTPase family that play a role in the distribution of the mitochondrial network. The Bst (belly spot and tail) mutant mice show atrophy of the optic nerves and previous mapping data raise the possibility that Bst and OPA1 are orthologs. In order to analyse the Bst mouse as a model for DOA, we therefore characterized mouse Opa1 and evaluated it as a candidate for the Bst mutant mouse. RESULTS:Comparison of mouse and human OPA1 sequences revealed 88% and 97% identity at the nucleotide and amino acid levels, respectively. Presence of alternativ

SUBMITTER: Delettre C 

PROVIDER: S-EPMC156655 | biostudies-literature | 2003 May

REPOSITORIES: biostudies-literature