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IPCC2017 Abstracts DOI: 10.1111/pcmr.12622 ABSTRACTS PS.01.01 | Modeling of neural crest diseases in or cytosines usually created picoseconds after an ultraviolet photon is mouse – Human chimeras absorbed. In melanocytes, however, CPDs were generated for hours after UV exposure ended. These “dark CPDs” constituted the major- Rudolf Jaenisch ity of CPDs in human melanocytes and mouse skin, and were most Whitehead Institute for Biomedical Research and Department of Biology, MIT, prominent in skin containing pheomelanin, the melanin responsible for Cambridge, MA, USA blonde and red hair. The mechanism was discovered to be chemiexcitation (chemical The greatest promise of the iPS (Induced Pluripotent Stem) technol- excitation of an electron), a process familiar in fireflies and jellyfish ogy is its potential to study human diseases in the Petri dish. In this but unknown in mammals. Dark CPDs arose when UV- induced su- approach patient- derived cells are differentiated into cells affected in peroxide and nitric oxide combined to form peroxynitrite, one of the the patient with the goal to uncover a disease relevant phenotype few biological molecules capable of exciting an electron. An electron in the dish. However, because numerous human diseases originate in a carbonyl group of a melanin fragment was excited to a quantum already in embryogenesis, i.e. are caused by disturbances of develop- triplet state that had the energy of a UV photon but induced CPDs mental processes, such an approach cannot recapitulate the develop- by radiationless energy transfer to DNA. UVA and peroxynitrite also mental aspects of a disease because the test cells are not incorporated solubilized the melanin and allowed it to enter the nucleus. Melanin into the developing embryo and do not participate in normal develop- is evidently carcinogenic as well as protective. These findings may un- mental processes. Thus, a major challenge of the “disease in the dish” derlie the dependence of UV- induced and spontaneous skin cancers approach is establishing model systems that, using patient- derived iPS on melanin type, and they validate the long- standing suggestion that cells, allow for the investigation of human disease under long- term chemical generation of excited electronic states is important in mam- in vivo conditions. The talk will summarize our efforts to introduce malian biology. human neural crest cells (NCCs) into the developing mouse embryo Chemiexcitation may underlie diseases in tissue never exposed with the goal to set up a system that can model neural crest cell dis- to UV: Inflammation also leads to superoxide and nitric oxide; these eases under in the animal. factors co- localize with melanin or neuromelanin in tissues suscepti- To study the potential of committed stem to functionally integrate ble to macular degeneration, noise- induced deafness, and Parkinson’s into the developing mouse embryos we have differentiated mouse, rat Disease. A recent conference on Chemiexcitation in Human Disease at and human ESCs or iPSCs into NCCs that were injected in utero into Cold Spring Harbor Laboratory therefore reviewed the prospects and E8.5 albino wild- type and c-Kit mutated Wsh/Wsh embryos. Both the challenges of the new field of human excited- state biology. mouse and human NCCs migrated laterally under the epidermis and ventrally into deeper regions of the embryo. Importantly, analysis of postnatal animals derived from mouse, rat or human NCC- injected PS.01.03 | Translational approach in pigmentary embryos displayed coat color pigmentation from the donor cells. Our results demonstrate that NCCs from different species can integrate disorders into the developing mouse embryo, migrate through the dermis and Kyoungchan Park differentiate into functional pigment cells in postnatal mice. Bundang Seoul National University Hospital, Seongnam, Korea In recent experiments we have used human neural crest donor cells that carry neuroblastoma relevant mutations into gastrulating There are diverse pigmentary disorders. Among them, melasma will mouse embryos. We found that some of the chimeras develop tumors be a most important hyperpigmentary disorder and vitiligo will be a that resemble primary human neuroblastomas. typical example of hypopigmentary disorder. In this presentation, I am going to introduce our experiences in translation research in melasma and vitiligo. Melasma is difficult to treat and is often refractory to mul- PS.01.02 | Chemiexcitation of electrons in tiple treatment modalities. Histologically, melasma is characterized by epidermal hyperpigmentation associated with underlying dermal pa- melanin: A new route to disease thology. It means that melasma is not only a disease of melanocytes Sanjay Premi; Leticia C.P. Goncalves; Douglas E. Brash but also a disease of surrounding environment. In addition, melano- Yale School of Medicine, New Haven, CT, USA genesis occurs through several mechanisms in melanosomes. Thus, strategies for regulating both intraceullar and extracellular interac- Mutations in sunlight- induced melanoma arise from cyclobutane tions will be necessary in the treatment of melasma. Based on these pyrimidine dimers (CPDs), DNA photoproducts at adjacent thymines mechanisms, translational approaches for the treatment of melasma Pigment Cell Melanoma Res. 2017;30:e27–e137. wileyonlinelibrary.com/journal/pcmr © 2017 John Wiley & Sons A/S. | e27 Published by John Wiley & Sons Ltd e28 | ABSTRACTS will be discussed. In addition, vitiligo also has complex pathogenesis completely lack melanocytes but retain neural crest- derived sensory and various approaches have been introduced for the treatment of ganglia. To determine the position of TFAP2A in the melanocyte GRN vitiligo. But, imbalance of free radical status has been emerging as an we carried out TFAP2A ChIP- SEQ in mouse and human melanocytes. important inducing factor and I am going to present the effects of TFAP2A is bound at a majority of enhancers and promoters that are nutritional supplementation in the management of vitiligo active in melanocytes. Interestingly there is extensive co- occupation of such elements by TFAP2A and MITF. We also observe a genetic interaction between tfap2a and mitfa in zebrafish. We find that ar- PS.02.03 | Macrophage relay for long distance tificially elevating expression of tfap2a does not increase levels of communication during Zebrafish adult pigment melanin in mitfa hypomorphic or loss- of- function mutants, suggest- ing TFAP2A is a weak transcriptional activator and that it has some pattern development other function at enhancers; we are examining the possibly it regu- 1 1,2 1 Dae Seok Eom ; Larissa Patterson ; Emily Bain ; lates chromatin accessibility. In conclusion, differentiation of melano- David M. Parichy1 cytes is controlled by MITF together with other transcription factors, 1University of Virginia, Charlottesville, VA, USA; 2Rhode Island College, Providence, expanding the number of potential targets for therapeutically manipu- RI, USA lating differentiation status in melanocytes or in melanoma cells. Cellular communication over long distances is essential for normal de- velopment and homeostasis. In analyses of zebrafish adult pigment pattern formation, we have identified novel cellular projections, “air- CS.01.02 | Single cell expression profiling inemes,” that extend from xanthophore precursors to melanophores. identifies pigment cell differentiation trajectories We show that airinemes promote Delta–Notch signaling and are re- from partially- restricted intermediate pigment quired for organizing melanophores into stripes. We further demon- progenitor cell strate that airinemes are relayed from originating cells to target cells 1 1 via interactions with wandering macrophages that patrol the tissue Tatiana Subkhankulova ; Masataka Nikaido ; 2 2 3 environment. This macrophage- dependent mode of long- distance Artem Kasianov ; Leonid Uroshlev ; Gerardo Aquino ; Hartmut Schwetlick1; Tatjana Sauka-Spengler4; communication may function in other tissues and could be relevant to Andrea Rocco3; Vsevolod Makeev2; Robert N. Kelsh1 cancer and other disease states. 1University of Bath, Bath, UK; 2Vavilov Institute of General Genetics, Moscow, Russia; 3University of Surrey, Guildford, UK; 4University of Oxford, Oxford, UK CS.01.01 | TFAP2 paralogs regulate melanocyte The neural crest (NC) is a major model for understanding stem cell differentiation in parallel with MITF differentiation, in particular how multipotent progenitors generate a balance of different derived cell- types. Controversy over how indi- Hannah Seberg1; Eric Van Otterloo2; Stacie Loftus3; Derek E. Gildea3; Huan Liu1; Juan Sananta1; Robert J. Manak1; vidual fates are specified from the NC concerns whether fate choice William Pavan3; Trevor Williams2; Robert Cornell1 proceeds via a Direct Fate or Progressive Fate Restriction model. The 1University of Iowa, Iowa City, IA, USA; 2University of Colorado, Denver, Aurora, latter model posits sets of partially- restricted intermediates, but these CO, USA; 3NIH, Bethesda, MD, USA remain poorly characterised in vivo. The zebrafish neural crest gener- ates three distinct pigment cell types – melanocytes (black), iridophores The gene regulatory network (GRN) governing differentiation of mel- (silver) and xanthophores (yellow) - which have been proposed to share anocytes may also regulate phenotype switching in melanoma cells. a common cellular origin, either a partially- restricted chromatoblast, Members of the Transcription Factor Activating- enhancer
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