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Etiopathogenesis
Published in Vineet Relhan, Vijay Kumar Garg, Sneha Ghunawat, Khushbu Mahajan, Comprehensive Textbook on Vitiligo, 2020
Dario Didona, Biagio Didona, Giovanni Paolino, Raffaele Dante Caposiena Caro
Both peripheral nerve sheath and melanocytes arise from neural crest cells (NCC). These cells migrate from the neural tube to dorsolateral and ventral directions [38] (Figure 5.5). On the one hand, cells with only a dorsolateral trajectory are committed to melanocytic fate; on the other hand, cells with a ventral trajectory are committed to neuronal, glial/melanocyte, or endoneurial fibroblast fate [38]. It has been shown that SOX10+ NCCs fail to initiate the neuronogenesis, adopting a glial pathway to give rise to Schwann cells and melanocytes, highlighting the link between pigmentary disorders (as vitiligo) and neural cells [38]. Neuregulin 1 is an axon-derived growth factor which, when overexpressed, promotes glial fate and suppresses melanocytic activity [39]. Furthermore, melanocytes with the overexpression of embryo retinal epithelium can dedifferentiate back to their unpigmented glial progenitor [39].
Waardenburg syndrome
Published in Electra Nicolaidou, Clio Dessinioti, Andreas D. Katsambas, Hypopigmentation, 2019
Carmen Maria Salavastru, Stefana Cretu, George Sorin Tiplica
SOX10 is a transcription factor responsible for the development and preservation of melanocytes, Schwann cells, and enteric ganglion cells, all of which derive from the neural crest cells.17 The gene is expressed in the developing embryo in neural crest cells that contribute to the formation of the peripheral nervous system and transiently in melanoblasts. In later stages of development, it is also expressed in the central nervous system, reaching a maximum level of expression at this site in the adult life. Among the transcription factors modulated by SOX10 are PAX3 and MITF.13 Individuals with WS and SOX10 mutations are heterozygotes. In the homozygous state, SOX10 mutations are lethal in early infancy or in utero.10
The inherited basis of hypergonadotropic hypogonadism
Published in Philip E. Harris, Pierre-Marc G. Bouloux, Endocrinology in Clinical Practice, 2014
The transcription factor SOX10 plays an important role in the development of the neural crest and is involved in the maintenance of progenitor cell multipotency, lineage specification, and cell differentiation. Mutations in SOX10 have been implicated in Waardenburg syndrome (WS), a rare disorder characterized by the association between pigmentation abnormalities and deafness. SOX10 mutations cause a variable phenotype that spreads over the initial limits of the syndrome definition. On the basis of findings of olfactory bulb agenesis in WS individuals, SOX10 was hypothesized to be also involved in KS. SOX10 loss-of-function mutations were found in approximately one third of KS individuals with deafness, indicating a substantial involvement in this clinical condition. Study of SOX10-null mutant mice revealed a developmental role of SOX10 in a sub-population of glial cells called olfactory ensheathing cells. These mice showed an almost complete absence of these cells along the olfactory nerve pathway, as well as defasciculation and misrouting of the nerve fibers, impaired migration of GnRH cells, and disorganization of the olfactory nerve layer of the olfactory bulbs.81
The significance of the neuregulin-1/ErbB signaling pathway and its effect on Sox10 expression in the development of terminally differentiated Schwann cells in vitro
Published in International Journal of Neuroscience, 2021
Xizhong Yang, Cuijie Ji, Xinyue Liu, Chaoqun Zheng, Yanxin Zhang, Ruowu Shen, Zangong Zhou
Neuregulin-1 (NRG-1) is a member of the family of regulatory proteins that contain the EGF (epidermal growth factor)-like domain. It is a type of transmembrane protein that regulates the growth and development of glial cells and neurons [8]. The functional receptor of NRG is the ErbB receptor, which includes ErbB2/HER2, ErbB3/HER3, and ErbB4/HER4. ErbB is a member of the EGF receptor family of transmembrane tyrosine kinases. Both ErbB2 and ErbB3 receptors are required in the development of SCs, but these two receptors have different effects; ErbB3 can bind with extracellular ligands with high affinity even though it is inactive, while ErbB2 tyrosine kinase activity can activate downstream signaling [9]. Sox10 belongs to the Sox family, members of which contain a DNA binding domain that is similar to the HMG (high mobility group) domain of the SRY transcription factor family [10]. The structure of Sox10 is highly conserved, especially the structure of its functional domains, such as the N-terminal to C-terminal dimerization domain, the HMG domain, and the protein interaction (K2) domain [11]. The Sox gene family is involved in stem cell maintenance, cell differentiation and tissue formation. Sox10 plays an important role in the formation of the neural crest and peripheral nervous system, the maturation and terminal differentiation of SCs, and the differentiation of melanocytes. Sox10 and Oct6 have synergistic effects on the differentiation and development of SCs [12]. In addition, in the central nervous system and the peripheral nervous system, Sox10 is highly expressed in neural crest cells and glial cells.
Close proximity of immune and tumor cells underlies response to anti-PD-1 based therapies in metastatic melanoma patients
Published in OncoImmunology, 2020
Tuba N. Gide, Ines P. Silva, Camelia Quek, Tasnia Ahmed, Alexander M. Menzies, Matteo S. Carlino, Robyn P.M. Saw, John F. Thompson, Marcel Batten, Georgina V. Long, Richard A. Scolyer, James S. Wilmott
Furthermore, our study utilized SOX10 as a melanoma marker to calculate the spatial distances of the immune cell populations to melanoma cells. While the melanoma cells in our study were all homogenously positive for SOX10, it has been shown that de-differentiation in melanomas is linked to loss of SOX10 during treatment with small molecule BRAF inhibitors28 and de-differentiation has been associated with immunotherapy resistance.29 Therefore, heterogeneous melanoma expression of SOX10 should be considered when applying the techniques outlined in this study, particularly during treatment with targeted or immunotherapies.
Atrazine modifies markers of melanocyte maturation and apoptosis in primary skin cultures
Published in Toxicology Mechanisms and Methods, 2023
Ana K. González-Palomo, Victor M. Ruíz-Rodríguez, Diana V. Hernández-Blanco, Francisco J. Pérez Vázquez, Luz E. Alcántara-Quintana, Juan D. Cortés-Garcia
In this regard, there have been attempts to evaluate the incidence of some types of cancer due to exposure to ATZ. One of the least described is melanoma, a type of cancer that originates from a malignant transformation of melanocytes, caused by the activation of oncogenes or the inactivation of tumor suppressor genes, which generates uncontrolled growth of melanocytes, especially those found in hair follicles (Lugovic-Mihic et al. 2019). Among the mechanisms related to the malignancy of melanocytes, the inhibition of apoptosis is one of the most important, where alterations in the expression of the microphthalmia-associated transcription factor (MITF), which regulates the activation of the anti-apoptotic protein of the mitochondrial membrane (BCL-2) (Levy et al. 2006). In addition, some melanocyte activation or differentiation markers could be used as possible therapeutic targets against melanoma, such as focal adhesion kinase (FAK) or a member of the class III transmembrane receptor tyrosine kinases (c-KIT). FAK and c-KIT are related to the re-pigmentation process, playing a key role in the development, migration and invasion of melanoma. Moreover, c-KIT is considered a proto-oncogene and different inhibitors of c-KIT have been tested in clinical trials. On the other hand, FAK acts as a regulator of angiogenesis, tumor growth, and specifically in melanoma, regulating proliferation, migration, and invasion through the FAK-SRC-GRB2 axis activated by c-CBL (Castanedo-Cazares et al. 2016; Nihal and Wood 2016; Lechertier et al. 2020; Pham et al. 2020). Other important markers used to determine the malignancy of melanocytes are SOX9 and SOX10, members of the SOXE transcription factor family. In particular, a high expression of SOX9 has an important role in melanoma metastasis (Yang et al. 2019).