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Mutations in ribosomal proteins (encoded by the RPS and RPL genes) are rare. They are associated with Diamond-Blackfan syndrome, which involves congenital aplasia of red blood cells, growth retardation, and limb and craniofacial malformations. Thus, it was surprising when investigators seeking new loci responsible for pigment control found evidence implicating ribosomal protein mutations in the processes of skin pigmentation. The researchers randomly mutagenized the mouse genome and selectively analyzed strains that exhibited a dark-skin phenotype (Dsk strains).
Two Dsk strains — Dsk3 and Dsk4 — accumulated epidermal melanocytes during development. Using positional cloning, the investigators identified germline mutations in the ribosomal pro…