Are mice pigmentary genes throwing light on humans?

Indian Journal of Dermatology, Venereology and Leprology. 1993;59(5):233-238


Journal Homepage

Journal Title: Indian Journal of Dermatology, Venereology and Leprology

ISSN: 0378-6323 (Print); 0973-3922 (Online)

Publisher: Wolters Kluwer Medknow Publications

Society/Institution: Indian Association of Dermatologists, Venereologists and Leprologists

LCC Subject Category: Medicine: Dermatology

Country of publisher: India

Language of fulltext: English

Full-text formats available: PDF, HTML, ePUB



Bose S


Blind peer review

Editorial Board

Instructions for authors

Time From Submission to Publication: 44 weeks


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.