کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3218460 1203645 2006 8 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Mice Transgenic for KitV620A: Recapitulation of Piebaldism but not Progressive Depigmentation Seen in Humans with this Mutation
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی امراض پوستی
پیش نمایش صفحه اول مقاله
Mice Transgenic for KitV620A: Recapitulation of Piebaldism but not Progressive Depigmentation Seen in Humans with this Mutation
چکیده انگلیسی

Piebaldism is an autosomal dominant genetic pigmentary disorder, characterized by congenital white hair and patches located on the forehead, anterior trunk, and extremities. Most piebald patients have a mutation of the KIT gene, which encodes a tyrosine kinase receptor involved in pigment cell development. The white hair and patches of such patients are already completely formed at birth and do not usually expand thereafter. This stability of pigmented spots also applies to KitW and KitlSl mutant mice. However, two novel cases of piebaldism were reported in 2001, in which both mother and daughter having a novel Val620Ala mutation in their KIT gene showed progressive depigmentation. To prepare an animal model of this mutation, to explore undefined functions of KIT signaling for maintaining pigmented melanocytes in the skin or more specifically the integrity of the melanocyte stem cell system in the postnatal skin, we produced transgenic mice expressing Val620Ala Kit. These mice well mimicked the white spotting pattern of patients; however, no change in this pattern was observed after birth, even after increasing the transgene expression by various means. Here, we report the unexpectedly extremely stable maintenance of the melanocyte stem cell system under stringent conditions for KIT signaling.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Investigative Dermatology - Volume 126, Issue 5, May 2006, Pages 1111–1118
نویسندگان
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