Functional analysis of a novel cis-acting regulatory region within the human ankyrin gene (ANK-1) promoter.

ABSTRACT: The characterization of atypical mutations in loci associated with diseases is a powerful tool to discover novel regulatory elements. We previously identified a dinucleotide deletion in the human ankyrin-1 gene (ANK-1) promoter that underlies ankyrin-deficient hereditary spherocytosis. The presence of the deletion was associated with a decrease in promoter function both in vitro and in vivo establishing it as a causative hereditary spherocytosis mutation. The dinucleotide deletion is located in the 5' untranslated region of the ANK-1 gene and disrupts the binding of TATA binding protein and TFIID, components of the preinitiation complex. We hypothesized that the nucleotides surrounding the mutation define an uncharacterized regulatory sequence. To test this hypothesis, we generated a libra

SUBMITTER: Laflamme K 

PROVIDER: S-EPMC2897556 | biostudies-literature | 2010 Jul

REPOSITORIES: biostudies-literature