Increased susceptibility to iron deficiency of Tmprss6-haploinsufficient mice.

摘要

We read with interest the paper by Finberg et al that describes the Hjv~(-/-)Tmprss6~(-/-) double mutant mouse and characterizes the hematologic phenotype of Tmprss6~(+/-) mouse. TMPRSS6 encodes a liver-expressed type II transmembrane serine-protease, that, cleaving the membrane Bone Morphogenetic Protein (BMP) coreceptor hemojuvelin (HJV), down-regulates the Sons of Mothers Against Decapentaplegic (SMAD)-dependent hepcidin expression. This function is essential for erythropoiesis, since loss of TMPRSS6 activity in both humans and mice causes irondeficiency anemia.