Differential recognition of a dileucine-based sorting signal by AP-1 and AP-3 reveals a requirement for both BLOC-1 and AP-3 in delivery of OCA2 to melanosomes

OCA2 is used as a model melanosome cargo protein to define primary sequence elements required for acidic dileucine–motif binding to adaptors AP-1 and AP-3. OCA2 must bind to AP-3 for melanosome localization. BLOC-1 is also required and thus can cooperate with either adaptor for cargo delivery to lysosome-related organelles.

[1]  Zhe Zhang,et al.  SLC35D3 delivery from megakaryocyte early endosomes is required for platelet dense granule biogenesis and is differentially defective in Hermansky-Pudlak syndrome models. , 2012, Blood.

[2]  A. Ambrosio,et al.  BLOC-2, AP-3, and AP-1 Proteins Function in Concert with Rab38 and Rab32 Proteins to Mediate Protein Trafficking to Lysosome-related Organelles* , 2012, The Journal of Biological Chemistry.

[3]  M. Marks,et al.  Mechanisms of protein delivery to melanosomes in pigment cells. , 2012, Physiology.

[4]  C. Lese-Martin,et al.  Quantitative Proteomic and Genetic Analyses of the Schizophrenia Susceptibility Factor Dysbindin Identify Novel Roles of the Biogenesis of Lysosome-Related Organelles Complex 1 , 2012, The Journal of Neuroscience.

[5]  J. Bonifacino,et al.  Assembly and Architecture of Biogenesis of Lysosome-related Organelles Complex-1 (BLOC-1)* , 2011, The Journal of Biological Chemistry.

[6]  Y. Smith,et al.  The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse , 2011, Molecular biology of the cell.

[7]  E. C. Dell'Angelica,et al.  Functional interactions between OCA2 and the protein complexes BLOC‐1, BLOC‐2, and AP‐3 inferred from epistatic analyses of mouse coat pigmentation , 2011, Pigment cell & melanoma research.

[8]  J. Bonifacino,et al.  Conservation and Diversification of Dileucine Signal Recognition by Adaptor Protein (AP) Complex Variants* , 2010, The Journal of Biological Chemistry.

[9]  Niels Morling,et al.  Human eye colour and HERC2, OCA2 and MATP. , 2010, Forensic science international. Genetics.

[10]  A. Verkleij,et al.  AP-1 and KIF13A coordinate endosomal sorting and positioning during melanosome biogenesis , 2009, The Journal of cell biology.

[11]  Y. Smith,et al.  Roles of BLOC-1 and adaptor protein-3 complexes in cargo sorting to synaptic vesicles. , 2009, Molecular biology of the cell.

[12]  M. Marks,et al.  Localization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 function. , 2009, Molecular biology of the cell.

[13]  O. W. Lindwasser,et al.  A Basic Patch on α-Adaptin Is Required for Binding of Human Immunodeficiency Virus Type 1 Nef and Cooperative Assembly of a CD4-Nef-AP-2 Complex , 2009, Journal of Virology.

[14]  Sharon E. Miller,et al.  A structural explanation for the binding of endocytic dileucine motifs by the AP2 complex , 2008, Nature.

[15]  W. Gahl,et al.  Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. , 2008, Annual review of genomics and human genetics.

[16]  L. Wartman,et al.  Identification of Acidic Dileucine Signals in LRP9 that Interact with Both GGAs and AP‐1/AP‐2 , 2008, Traffic.

[17]  G. Raposo,et al.  Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes , 2008, Nature.

[18]  K. von Figura,et al.  AP‐1 and AP‐3 Mediate Sorting of Melanosomal and Lysosomal Membrane Proteins into Distinct Post‐Golgi Trafficking Pathways , 2008, Traffic.

[19]  V. Faundez,et al.  Phosphatidylinositol-4-kinase type II alpha contains an AP-3-sorting motif and a kinase domain that are both required for endosome traffic. , 2008, Molecular biology of the cell.

[20]  Hans Eiberg,et al.  Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression , 2008, Human Genetics.

[21]  Snæbjörn Pálsson,et al.  Genetic determinants of hair, eye and skin pigmentation in Europeans , 2007, Nature Genetics.

[22]  Graça Raposo,et al.  Melanosomes — dark organelles enlighten endosomal membrane transport , 2007, Nature Reviews Molecular Cell Biology.

[23]  G. Raposo,et al.  Lysosome-related organelles: driving post-Golgi compartments into specialisation. , 2007, Current opinion in cell biology.

[24]  G. Bu,et al.  The γ/σ1 and α/σ2 Hemicomplexes of Clathrin Adaptors AP-1 and AP-2 Harbor the Dileucine Recognition Site , 2007 .

[25]  A. Navarro,et al.  Signatures of Positive Selection in Genes Associated with Human Skin Pigmentation as Revealed from Analyses of Single Nucleotide Polymorphisms , 2007, Annals of human genetics.

[26]  G. Raposo,et al.  BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles. , 2007, Molecular biology of the cell.

[27]  O. W. Lindwasser,et al.  Downregulation of CD4 by Human Immunodeficiency Virus Type 1 Nef Is Dependent on Clathrin and Involves Direct Interaction of Nef with the AP2 Clathrin Adaptor , 2007, Journal of Virology.

[28]  R. Kittles,et al.  Genetic evidence for the convergent evolution of light skin in Europeans and East Asians. , 2006, Molecular biology and evolution.

[29]  K. Lilley,et al.  Comparative proteomics of clathrin-coated vesicles , 2006, The Journal of cell biology.

[30]  B. Wainer,et al.  BLOC-1 complex deficiency alters the targeting of adaptor protein complex-3 cargoes. , 2006, Molecular biology of the cell.

[31]  J. Falcón-Pérez,et al.  BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes. , 2006, Molecular biology of the cell.

[32]  G. Raposo,et al.  Dual loss of ER export and endocytic signals with altered melanosome morphology in the silver mutation of Pmel17. , 2006, Molecular biology of the cell.

[33]  R. Lapointe,et al.  Melanosomal targeting sequences from gp100 are essential for MHC class II-restricted endogenous epitope presentation and mobilization to endosomal compartments. , 2006, Cancer research.

[34]  Maria L. Wei.  Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. , 2006, Pigment cell research.

[35]  J. Bonifacino,et al.  Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting from endosomes to melanosomes. , 2005, Molecular biology of the cell.

[36]  E. C. Dell'Angelica,et al.  The Cell Biology of Hermansky–Pudlak Syndrome: Recent Advances , 2005, Traffic.

[37]  W. Gahl,et al.  Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking. , 2005, The Journal of investigative dermatology.

[38]  E. C. Dell'Angelica,et al.  Identification of Snapin and Three Novel Proteins (BLOS1, BLOS2, and BLOS3/Reduced Pigmentation) as Subunits of Biogenesis of Lysosome-related Organelles Complex-1 (BLOC-1)* , 2004, Journal of Biological Chemistry.

[39]  M. Robinson.  Adaptable adaptors for coated vesicles. , 2004, Trends in cell biology.

[40]  R. Scheller,et al.  Localization of the AP-3 adaptor complex defines a novel endosomal exit site for lysosomal membrane proteins , 2004, The Journal of cell biology.

[41]  J. Bonifacino,et al.  Recognition of dileucine-based sorting signals from HIV-1 Nef and LIMP-II by the AP-1 γ–σ1 and AP-3 δ–σ3 hemicomplexes , 2003, The Journal of cell biology.

[42]  J. Bonifacino,et al.  Signals for sorting of transmembrane proteins to endosomes and lysosomes. , 2003, Annual review of biochemistry.

[43]  D. Bennett,et al.  The color loci of mice--a genetic century. , 2003, Pigment cell research.

[44]  Arnold H. Buss.  Pathways , 2002, Journal of personality assessment.

[45]  L. Chin,et al.  p16(Ink4a) in melanocyte senescence and differentiation. , 2002, Journal of the National Cancer Institute.

[46]  J. Bonifacino,et al.  Adaptins: the final recount. , 2001, Molecular biology of the cell.

[47]  M. Marks,et al.  The melanosome: membrane dynamics in black and white , 2001, Nature Reviews Molecular Cell Biology.

[48]  W. Gahl,et al.  AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes. , 2001, Molecular biology of the cell.

[49]  G. Raposo,et al.  Distinct Protein Sorting and Localization to Premelanosomes, Melanosomes, and Lysosomes in Pigmented Melanocytic Cells✪ , 2001, The Journal of cell biology.

[50]  J. Bonifacino,et al.  Lysosome‐related organelles , 2000, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

[51]  M. Marks,et al.  A Cytoplasmic Sequence in Human Tyrosinase Defines a Second Class of Di-leucine-based Sorting Signals for Late Endosomal and Lysosomal Delivery* , 1999, The Journal of Biological Chemistry.

[52]  A. Seymour,et al.  The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness. , 1999, Human molecular genetics.

[53]  C. Burd,et al.  Acidic Di-leucine Motif Essential for AP-3–dependent Sorting and Restriction of the Functional Specificity of the Vam3p Vacuolar t-SNARE , 1998, The Journal of cell biology.

[54]  C. Geisler,et al.  Leucine-based Receptor Sorting Motifs Are Dependent on the Spacing Relative to the Plasma Membrane* , 1998, The Journal of Biological Chemistry.

[55]  M. Burmeister,et al.  Mutation in AP-3 δ in the mocha Mouse Links Endosomal Transport to Storage Deficiency in Platelets, Melanosomes, and Synaptic Vesicles , 1998, Neuron.

[56]  S. White,et al.  Analysis of the Structural Requirements for Lysosomal Membrane Targeting Using Transferrin Receptor Chimeras* , 1998, The Journal of Biological Chemistry.

[57]  K. von Figura,et al.  A di‐leucine‐based motif in the cytoplasmic tail of LIMP‐II and tyrosinase mediates selective binding of AP‐3 , 1998, The EMBO journal.

[58]  J. Rohrer,et al.  The targeting of Lamp1 to lysosomes is dependent on the spacing of its cytoplasmic tail tyrosine sorting motif relative to the membrane , 1996, The Journal of cell biology.

[59]  M. Jackson,et al.  A Role for Acidic Residues in Di-leucine Motif-based Targeting to the Endocytic Pathway (*) , 1995, The Journal of Biological Chemistry.

[60]  A. Houghton,et al.  Intracellular sorting and targeting of melanosomal membrane proteins: identification of signals for sorting of the human brown locus protein, gp75 , 1995, The Journal of cell biology.

[61]  R. Spritz,et al.  Organization and sequence of the human P gene and identification of a new family of transport proteins. , 1995, Genomics.

[62]  R. Spritz,et al.  A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism , 1993, Nature.

[63]  P. Natali,et al.  Production and characterization of the murine monoclonal antibody 2G10 to a human T4-tyrosinase epitope. , 1991, The Journal of investigative dermatology.

[64]  R. Saiki,et al.  A general method of in vitro preparation and specific mutagenesis of DNA fragments: study of protein and DNA interactions. , 1988, Nucleic acids research.

[65]  G. Bu,et al.  The gamma/sigma1 and alpha/sigma2 hemicomplexes of clathrin adaptors AP-1 and AP-2 harbor the dileucine recognition site. , 2007, Molecular biology of the cell.

[66]  V. Hearing.  Biogenesis of pigment granules: a sensitive way to regulate melanocyte function. , 2005, Journal of dermatological science.

[67]  J. Bonifacino,et al.  Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. , 1999, Molecular cell.

[68]  T. Simmen,et al.  The tyrosinase tail mediates sorting to the lysosomal compartment in MDCK cells via a di-leucine and a tyrosine-based signal. , 1999, Journal of cell science.

[69]  R. Spritz,et al.  Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences. , 1997, The Journal of investigative dermatology.