[HTML][HTML] Erythrocyte ankyrin promoter mutations associated with recessive hereditary spherocytosis cause significant abnormalities in ankyrin expression
PG Gallagher, DE Sabatino, DS Basseres… - Journal of Biological …, 2001 - ASBMB
Ankyrin defects are the most common cause of hereditary spherocytosis (HS). In several
kindreds with recessive, ankyrin-deficient HS, mutations have been identified in the ankyrin
promoter that have been proposed to decrease ankyrin synthesis. We analyzed the effects of
two mutations,− 108T to C and− 108T to C in cis with− 153G to A, on ankyrin expression. No
difference between wild type and mutant promoters was demonstrated in transfection or gel
shift assays in vitro. Transgenic mice with a wild type ankyrin promoter linked to a human A γ …
kindreds with recessive, ankyrin-deficient HS, mutations have been identified in the ankyrin
promoter that have been proposed to decrease ankyrin synthesis. We analyzed the effects of
two mutations,− 108T to C and− 108T to C in cis with− 153G to A, on ankyrin expression. No
difference between wild type and mutant promoters was demonstrated in transfection or gel
shift assays in vitro. Transgenic mice with a wild type ankyrin promoter linked to a human A γ …