The Role of Notch Signaling in Genetic Reticular Pigmentary Disorders

Abstract

Notch signaling is an essential conserved mechanism through local cell interactions. It regulates cell differentiation, proliferation, and apoptotic, influencing organ formation and morphogenesis. Notch signaling plays a vital role in both development of melanocyte during embryogenesis and maintenance of melanocyte stem cells. POFUT1, POGLUT1, ADAM10, presenilin enhancer-2, and nicastrin genes are pathogenic genes of genetic reticular pigmentation diseases Dowling-Degos disease, reticulate acropigmentation of Kitamura, and acne inversa with pigment abnormalities separately. And they are all vital genes in Notch signaling pathway. This group of pigmentary diseases have similarities and overlaps in clinical manifestations and pathological characteristics. We review the essential role of Notch signaling in genetic reticular pigmentary disorders, and discuss the underlying mechanisms behind dysfunction of melanocyte induced by gene mutations in Notch signaling.