Are mice pigmentary genes throwing light on humans?

Abstract | Full Text

In this article the rapid advances made in the molecular genetics of inherited disorders of hypo and hyperpigmentation during the past three years are reviewed. The main focus is on studies in mice as compared to homologues in humans. The main hypomelanotic diseases included are, piebaldism (white spotting) due to mutations of c-KIT, PDGF and MGF genes; vitiligo (microphathalmia mice) mutations of c-Kit and c-fms genes; Waardenburg syndrome (splotch locus) mutations of mice PAX-3 or human Hup-2 genes; albinism (mutations of tyrosinase genes), Menkes disease (Mottled mouse), premature graying (mutations in light/brown locus/gp75/ TRP-1); Griscelli disease (mutations in TRP-1 and steel); Prader-willi and Angelman syndromes, tyrosinase-positive oculocutaneous albinism and hypomelanosis of lto (mutations of pink-eyed dilution gene/mapping to human chromosomes 15 q 11.2 - q12); and human platelet storage pool deficiency diseases due to defects in pallidin, an erythrocyte membrane protein (pallid mouse / mapping to 4.2 pallidin gene). The genetic characterization of hypermelanosis includes, neurofibromatosis 1 (Café-au-lait spots) and McCune-Albright Syndrome. Rapid evolving knowledge about pigmentary genes will increase further the knowledge about these hypo and hyperpigmentary disorders.