Identification of evolutionarily conserved, functional noncoding elements in the promoter region of the sodium channel gene SCN8A.

ABSTRACT: SCN8A is a major neuronal sodium channel gene expressed throughout the central and peripheral nervous systems. Mutations of SCN8A result in movement disorders and impaired cognition. To investigate the basis for the tissue-specific expression of SCN8A, we located conserved, potentially regulatory sequences in the human, mouse, chicken, and fish genes by 5' RACE of brain RNA and genomic sequence comparison. A highly conserved 5' noncoding exon, exon 1c, is present in vertebrates from fish to mammals and appears to define the ancestral promoter region. The distance from exon 1c to the first coding exon increased tenfold during vertebrate evolution, largely by insertion of repetitive elements. The mammalian gene acquired three novel, mutually exclusive noncoding exons that are not represented

SUBMITTER: Drews VL 

PROVIDER: S-EPMC2042028 | biostudies-literature | 2007 Oct

REPOSITORIES: biostudies-literature