The Rockefeller University Press $30.00 J. Cell Biol. Vol. 209 No. 4 563–577 www.jcb.org/cgi/doi/10.1083/jcb.201410026 JCB 563 *M.K. Dennis and A.R. Mantegazza contributed equally to this paper. **M.S. Marks and S.R.G. Setty contributed equally to this paper. Correspondence to Michael S. Marks: [email protected] Abbreviations used in this paper: AF488, Alexa Fluor 488; AP-3, adaptor pro...

To the Editor: Albinism is a genetically heterogeneous group of disorders characterized by reduced melanin biosynthesis that primarily affects the skin and/or the eye (1). All known genetic causes are autosomal recessive except for X-linked isolated ocular albinism [Nettleship-Falls or OA1, GPR143 (G-protein coupled receptor 143)] (1). A total of 18 different genes have been identified to date,...

Although humans show a vast range of skin colors, our relative lack of hair prevents us from showing the full repertoire of pigment variation shared by most mammals (1). Nonetheless, we carry these genes and when their function affects more than pigment synthesis, hypomorphs may cause disease more complex than oculocutaneous albinism. These diseases sometimes have homologies in other species an...