Premium
Adam10 haploinsufficiency causes freckle‐like macules in Hairless mice
Author(s) -
Tharmarajah Grace,
Faas Laura,
Reiss Karina,
Saftig Paul,
Young Antony,
Van Raamsdonk Catherine D.
Publication year - 2012
Publication title -
pigment cell and melanoma research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.618
H-Index - 105
eISSN - 1755-148X
pISSN - 1755-1471
DOI - 10.1111/j.1755-148x.2012.01032.x
Subject(s) - hairless , haploinsufficiency , biology , hair follicle , mutation , epidermis (zoology) , melanocyte , hair cycle , genetics , microbiology and biotechnology , phenotype , gene , anatomy , melanoma
Summary The Hairless nuclear receptor co‐repressor is required for hair follicle regeneration during the hair cycle. The classical Hairless Hr /Hairless Hr mouse mutant loses all hair between 2 and 3 weeks of age. As the mice age, their trunk skin develops epidermal pigmentation, a feature of human skin which is not found in normal haired mice. In this report, we present a new, dominant mouse mutation, Pied , which arose within a colony of Hairless Hr /Hairless Hr mice and causes freckle‐like macules on the skin. The Pied macules require Hairless Hr homozygosity to form and are composed of localized clusters of epidermal melanocytes. Through linkage analysis, we find that the Pied mutation is a 1914 base pair loss‐of‐function deletion in the Adam10 zinc metalloprotease gene. The pathways that specifically maintain long‐term pigmentation patterns in adults are not well understood. We have identified Adam10 as an inhibitor of melanocyte expansion in adult skin.