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The patterns of birthmarks suggest a novel population of melanocyte precursors arising around the time of gastrulation

Kinsler, VA; Larue, L; (2017) The patterns of birthmarks suggest a novel population of melanocyte precursors arising around the time of gastrulation. Pigment Cell and Melanoma Research 10.1111/pcmr.12645. (In press). Green open access

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Abstract

Systematic work in the mouse and chicken has mapped out two neural crest-derived pathways of melanocyte precursor migration. With these in mind, this study reappraises the patterns of congenital pigmentary disorders in humans and identifies three recurrent patterns consistent across genetically different diseases. Only two of these are seen in diseases known to be melanocyte cell-autonomous. The segmental pattern correlates well with the classical dorsolateral population from animal studies, demonstrating respect of the midline, cranio-caudal axial mixing, unilateral migration and involvement of key epidermally derived structures. Importantly however, the melanocyte precursors responsible for the non-segmental pattern, which demonstrates circular, bilateral migration centred on the midline, and not involving key epidermally derived structures, have not been identified previously. We propose that this population originates around the time of gastrulation, most likely within the mesoderm, and ultimately resides within the dermis. Whether it contributes to mature melanocytes in non-disease states is not known; however, parallels with the patterns of acquired vitiligo would suggest that it does. The third pattern, hypo- or hyperpigmented fine and whorled Blaschko's lines, is proposed to be non-cell-autonomous.

Type: Article
Title: The patterns of birthmarks suggest a novel population of melanocyte precursors arising around the time of gastrulation
Open access status: An open access version is available from UCL Discovery
DOI: 10.1111/pcmr.12645
Publisher version: https://doi.org/ 10.1111/pcmr.12645
Language: English
Additional information: This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
Keywords: Birthmark; development; melanoblast; melanocytic; migration; mosaicism; non-segmental; pattern; population; segmental; spray can; vitiligo
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10033902
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