title: A genetic clog in the vitamin A transport machinery.
abstract: Chou et al. discover a new mode of maternal inheritance by analyzing human mutations in plasma retinol binding protein (RBP). Mechanistically, these mutations simultaneously lower RBP's affinity for vitamin A and greatly increase its affinity for its cell-surface receptor, thus dominantly blocking the transmembrane transport of vitamin A.
authors.affiliation: Howard Hughes Medical Institute, Department of Physiology and Jules Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, U.S.A.
authors.forename: Ming
authors.initials: M
authors.lastname: Zhong
authors.affiliation: Howard Hughes Medical Institute, Department of Physiology and Jules Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, U.S.A. Electronic address: hsun@mednet.ucla.edu.
authors.forename: Hui
authors.initials: H
authors.lastname: Sun
mesh_terms: D000818:Animals; D015785:Eye Diseases, Hereditary / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D011247:Pregnancy; D054839:Retinol-Binding Proteins, Plasma / Q000235:genetics*
chemical_list: D054839:Retinol-Binding Proteins, Plasma