Figure 1.

BLOC-2 melanocytes are hypopigmented and pigmentation is restored by expression of the deficient BLOC-2 subunit. (ac) Bright-field microscopy analysis of untransfected HPS3-deficient melan-coa (BLOC-2, a) or stable transfectants expressing Muted-HA (melan-coa:MuHA or BLOC-2−C, b) or hHPS3 (melan-coa:hHPS3 or BLOC-2R, c). Images were taken at identical lighting and camera settings. Insets, 2.5× magnification of boxed regions. Bar, 10 µm. (d) BLOC-2, BLOC-2−C, and BLOC-2R whole cell lysates were fractionated by SDS-PAGE and immunoblotted with antibodies to HPS6, HA epitope, or γ-tubulin as a loading control. (left) Migration of molecular mass markers (in kilodaltons); arrows indicate relevant bands; the asterisk shows a nonspecific band recognized by anti-HPS6 antiserum. (e and f) Standard electron microscopy analysis of BLOC-2 and BLOC-2R melanocytes. End., endosomes; II, III, and IV, different stages of melanosomes. Bars, 500 nm.

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