A genetic clog in the vitamin A transport machinery

Ming Zhong; Hui Sun

doi:10.1016/j.cell.2015.04.020

A genetic clog in the vitamin A transport machinery

Cell. 2015 Apr 23;161(3):435-437. doi: 10.1016/j.cell.2015.04.020.

Authors

Ming Zhong¹, Hui Sun²

Affiliations

¹ 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.
² 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.

PMID: 25910203
DOI: 10.1016/j.cell.2015.04.020

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.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Comment

MeSH terms

Animals
Eye Diseases, Hereditary / genetics*
Female
Humans
Male
Mutation, Missense*
Pregnancy
Retinol-Binding Proteins, Plasma / genetics*

Substances

Retinol-Binding Proteins, Plasma

Abstract

Publication types

MeSH terms

Substances

Grants and funding