Epigenetic regulation during melanocyte development and homeostasis
Open accessAbstract
Melanocytes originate in the neural crest as precursor cells which then migrate and proliferate to reach their destination where they differentiate into pigment‐producing cells. Melanocytes not only determine the colour of hair, skin and eyes but also protect against the harmful effects of UV irradiation. The establishment of the melanocyte lineage is regulated by a defined set of transcription factors and signalling pathways that direct the specific gene expression programmes underpinning melanoblast specification, survival, migration, proliferation and differentiation. In addition, epigenetic modifiers and replacement histones play key roles in regulating gene expression and its timing during the different steps of this process. Here, we discuss the evidence for the role of epigenetic regulators in melanocyte development and function and how they interact with transcription factors and signalling pathways to establish and maintain this important cell lineage.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The h3f3a gene family contracted at the ancestor node of Choprae clade, resulting in fewer paralogs.
“We discovered that the h3f3a gene family contracted at the ancestor node of Choprae clade, resulting in fewer paralogs (Fig. 4A, Fig. S18, Table S7)44.”
From Genomic and genetic insights into speciation and pigment pattern diversification in <i>Danio</i> fishes (2025) · cites this paper as [44]
Section 2.3 (Histone variants) discusses h3f3a in zebrafish and the number of H3.3 histones in mice. It does not address the Choprae clade, an ancestral gene-family contraction, or fewer paralogs; searches for those terms found no supporting passage in our copy. (LLM, conf=0.75)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Melanocyte biology and skin pigmentation
Lin, J. Y., & Fisher, D. E. (2007) · Nature · doi:10.1038/nature05660 · Cited by 1,379 · see citing works
Genetic determinants of hair, eye and skin pigmentation in Europeans
Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Magnusson, K. P., Manolescu, A., Karason, A., Palsson, A., Thorleifsson, G., et al. (2007) · Nature Genetics · doi:10.1038/ng.2007.13 · Cited by 750 · see citing works
Mechanisms of hair graying: incomplete melanocyte stem cell maintenance in the niche
Nishimura, E. K., Granter, S. R., & Fisher, D. E. (2005) · Science · doi:10.1126/science.1099593 · Cited by 750 · see citing works
Two newly identified genetic determinants of pigmentation in Europeans
Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Jakobsdottir, M., Steinberg, S., Gudjonsson, S. A., Palsson, A., Thorleifsson, G., et al. (2008) · Nature Genetics · doi:10.1038/ng.160 · Cited by 368 · see citing works
Sound Needs Sound Melanocytes to Be Heard
TACHIBANA, M. (1999) · Pigment Cell Research · doi:10.1111/j.1600-0749.1999.tb00518.x · Cited by 141 · see citing works
Visconti, A., Duffy, D. L., Liu, F., Zhu, G., Wu, W., Chen, Y., Hysi, P. G., Zeng, C., Sanna, M., Iles, M. M., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-04086-y · Cited by 103 · see citing works
Flagged first, then by citations
Research works printed but not linked: 102
- Douarin NL, LeDouarin NM, Kalcheim C, et al. The Neural Crest. Cambridge University Press; 1999.
- Brito FC, Kos L. Timeline and distribution of melanocyte precursors in the mouse heart. Pigment Cell Melanoma Res. 2008;21(4):464- 470. https://doi.org/10.1111/j.1755-148X.2008.00459.x. · DOI
- Yajima I, Larue L. The location of heart melanocytes is specified and the level of pigmentation in the heart may correlate with coat color. Pigment Cell Melanoma Res. 2008;21(4):471-476. https://doi. org/10.1111/j.1755-148X.2008.00483.x. · DOI
- Sauka-Spengler T, Bronner-Fraser M. A gene regulatory net- work orchestrates neural crest formation. Nat Rev Mol Cell Bio. 2008;9(7):557-568. https://doi.org/10.1038/nrm2428. · DOI
- Stuhlmiller TJ, Garcia-Castro MI. Current perspectives of the signaling pathways directing neural crest induction. Cell. Mol. Life Sci. 2012;69(22):3715-3737. https://doi.org/10.1007/s0001 8-012-0991-8. · DOI
- Acloque H, Adams MS, Fishwick K, Bronner-Fraser M, Nieto MA. Epithelial-mesenchymal transitions: the importance of chang- ing cell state in development and disease. Journal of Clinical Investigation. 2009;119(6):1438-1449. https://doi.org/10.1172/ Jci38019. · DOI
- Pla P, Moore R, Morali OG, et al. Cadherins in neural crest cell development and transformation. J Cell Physiol. 2001;189(2):121- 132. https://doi.org/10.1002/jcp.10008. · DOI
- Adameyko I, Lallemend F, Aquino JB, et al. Schwann Cell Precursors from Nerve Innervation Are a Cellular Origin of Melanocytes in Skin. Cell. 2009;139(2):366-379. https://doi.org/10.1016/j. cell.2009.07.049. · DOI
- Luciani F, Champeval D, Herbette A, et al. Biological and math- ematical modeling of melanocyte development. Development. 2011;138(18):3943-3954. https://doi.org/10.1242/dev.067447. · DOI
- LeDouarin N, Kalcheim C. The Migration of neural crest cells. Developmental and Cell Biology Series. 1999;23-59. Cambridge University Press. https://doi.org/10.1017/CBO97 80511 897948.005 · DOI
- Goding CR, Arnheiter H. MITF-the first 25 years. Gene Dev. 2019;33(15-16):983-1007. https://doi.org/10.1101/ gad.324657.119. · DOI · Paper page
- Steingrimsson E, Moore KJ, Lamoreux ML, et al. Molecular basis of mouse microphthalmia (mi) mutations helps explain their develop- mental and phenotypic consequences. Nat Genet. 1994;8(3):256- 263. https://doi.org/10.1038/ng119 4-256. · DOI
- Bondurand N, Pingault V, Goerich DE, et al. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syn- drome. Hum Mol Genet. 2000;9(13):1907-1917.
- Epstein DJ, Vekemans M, Gros P. Splotch (Sp2h), a mutation af- fecting development of the mouse neural-tube, shows a deletion within the paired homeodomain of Pax-3. Cell. 1991;67(4):767-774. https://doi.org/10.1016/0092-8674(91)90071 -6. · DOI
- Kim J, Lo L, Dormand E, Anderson DJ. SOX10 maintains multipo- tency and inhibits neuronal differentiation of neural crest stem cells. Neuron. 2003;38(1):17-31. https://doi.org/10.1016/S0896 -6273(03)00163 -6. · DOI
- Magnaghi P, Roberts C, Lorain S, Lipinski M, Scambler PJ. HIRA, a mammalian homologue of Saccharomyces cerevisiae tran- scriptional co-repressors, interacts with Pax3. Nat. Genet. 1998;20(1):74-77.
- Ignatius MS, Moose HE, El-Hodiri HM, Henion PD. colgate/ hdac1 repression of foxd3 expression is required to permit mitfa- dependent melanogenesis. Dev. Biol. 2008;313(2):568-583. https://doi.org/10.1016/j.ydbio.2007.10.045. · DOI
- Aoki H, Motohashi T, Yoshimura N, et al. Cooperative and in- dispensable roles of endothelin 3 and KIT signalings in melano- cyte development. Dev Dyn. 2005;233(2):407-417. https://doi. org/10.1002/dvdy.20340. · DOI
- Jin EJ, Erickson CA, Takada S, Burrus LW. Wnt and BMP signal- ing govern lineage segregation of melanocytes in the avian em- bryo. Dev Biol. 2001;233(1):22-37. https://doi.org/10.1006/ dbio.2001.0222. · DOI
- Fitzpatrick TB, Breathnach AS. The epidermal melanin unit sys- tem. Dermatol Wochenschr. 1963;147:481-489. Das epidermale melanin-einheit-system.
- Bertrand JU, Steingrimsson E, Jouenne F, Bressac-de Paillerets B, Larue L. Melanoma risk and melanocyte biology. Acta Derm Venereol. 2020;100(11):adv00139. 10.2340/00015555-3494 · DOI
- Cichorek M, Wachulska M, Stasiewicz A, Tyminska A. Skin melanocytes: biology and development. Postep Derm Alergol. 2013;30(1):30-41. https://doi.org/10.5114/pdia.2013.33376. · DOI
- Bellono NW, Escobar IE, Lefkovith AJ, Marks MS, Oancea E. An intracellular anion channel critical for pigmentation. Elife. 2014;3:https://doi.org/10.7554/eLife.04543 · DOI
- Pavan WJ, Sturm RA. The genetics of human skin and hair pigmen- tation. Annu Rev Genomics Hum Genet. 2019;20:41-72. https://doi. org/10.1146/annur ev-genom -08311 8-015230. · DOI
- Brenner M, Hearing VJ. The protective role of melanin against UV damage in human skin. Photochem Photobiol. 2008;84(3):539-549. https://doi.org/10.1111/j.1751-1097.2007.00226.x. · DOI · Paper page
- Cui RT, Widlund HR, Feige E, et al. Central role of p53 in the suntan response and pathologic hyperpigmenta- tion. Cell. 2007;128(5):853-864. https://doi.org/10.1016/j. cell.2006.12.045. · DOI · Paper page
- Vandamme N, Berx G. From neural crest cells to melanocytes: cel- lular plasticity during development and beyond. Cell. Mol. Life Sci. 2019;76(10):1919-1934. https://doi.org/10.1007/s0001 8-019- 03049 -w. · DOI
- Bowman GD, Poirier MG. Post-translational modifications of histones that influence nucleosome dynamics. Chem. Rev. 2015;115(6):2274-2295. https://doi.org/10.1021/cr500 350x. · DOI
- Strub T, Ballotti R, Bertolotto C. The, "ART" of epigenetics in mel- anoma: from histone "alterations, to resistance and therapies". Theranostics. 2020;10(4):1777-1797. https://doi.org/10.7150/ thno.36218. · DOI
- Zhou VW, Goren A, Bernstein BE. Charting histone modifications and the functional organization of mammalian genomes. Nat. Rev. Genet. 2011;12(1):7-18. https://doi.org/10.1038/nrg2905. · DOI · Paper page
- Ignatius MS, Eroglu AU, Malireddy S, Gallagher G, Nambiar RM, Henion PD. Distinct functional and temporal requirements for ze- brafish hdac1 during neural crest-derived craniofacial and periph- eral neuron development. PLoS One. 2013;8(5):e63218. https:// doi.org/10.1371/journ al.pone.0063218 · DOI
- Greenhill ER, Rocco A, Vibert L, Nikaido M, Kelsh RN. An itera- tive genetic and dynamical modelling approach identifies novel features of the gene regulatory network underlying melanocyte 16000625, 2021, 8, Downloaded from https://onlinelibrary.wiley.com/doi/10.1111/exd.14391 by Test, Wiley Online Library on [30/08/2023]. See the Terms and Conditions (https://onlinelibrary.wiley.com/terms-and-conditions) on Wiley Online Library for rules of use; OA articles are governed by the applicable Creative Commons License development. PLoS Genet.. 2011;7(9):e1002265. https://doi. org/10.1371/journ al.pgen.1002265 · DOI · Paper page
- Henion PD, Raible DW, Beattie CE, Stoesser KL, Weston JA, Eisen JS. Screen for mutations affecting development of zebrafish neu- ral crest. Dev Genet. 1996;18(1):11-17.
- Nambiar RM, Ignatius MS, Henion PD. Zebrafish colgatelhdacl functions in the non-canonical Wnt pathway during axial extension and in Wnt-independent branchiomotor neuron migration. Mech Develop. 2007;124(9-10):682-698. https://doi.org/10.1016/j. mod.2007.07.003. · DOI
- Murisier F, Guichard S, Beermann F. The tyrosinase en- hancer is activated by Sox10 and Mitf in mouse melano- cytes. Pigment Cell Res. 2007;20(3):173-184. https://doi. org/10.1111/j.1600-0749.2007.00368.x. · DOI
- Laurette P, Strub T, Koludrovic D, et al. Transcription factor MITF and remodeller BRG1 define chromatin organisation at regu- latory elements in melanoma cells. eLife. 2015;4: https://doi. org/10.7554/eLife.06857 · DOI
- Louphrasitthiphol P, Siddaway R, Loffreda A, et al. Tuning tran- scription factor availability through acetylation-mediated ge- nomic redistribution. Mol. Cell. 2020;79(3):472. https://doi. org/10.1016/j.molcel.2020.05.025 · DOI
- Kos R, Reedy MV, Johnson RL, Erickson CA. The winged-helix transcription factor FoxD3 is important for establishing the neu- ral crest lineage and repressing melanogenesis in avian embryos. Development. 2001;128(8):1467-1479.
- Thomas AJ, Erickson CA. FOXD3 regulates the lineage switch between neural crest-derived glial cells and pigment cells by re- pressing MITF through a non-canonical mechanism. Development. 2009;136(11):1849-1858. https://doi.org/10.1242/dev.031989. · DOI · Paper page
- Hirobe T. Role of keratinocyte-derived factors involved in regu- lating the proliferation and differentiation of mammalian epider- mal melanocytes. Pigment Cell Res. 2005;18(1):2-12. https://doi. org/10.1111/j.1600-0749.2004.00198.x. · DOI
- Hughes MW, Jiang TX, Lin SJ, et al. Disrupted ectodermal organ morphogenesis in mice with a conditional histone deacetylase 1, 2 deletion in the epidermis. J Invest Dermatol. 2014;134(1):24-32. https://doi.org/10.1038/jid.2013.283. · DOI
- Krishnakumar R, Chen AF, Pantovich MG, et al. FOXD3 regulates pluripotent stem cell potential by simultaneously initiating and repressing enhancer activity. Cell Stem Cell. 2016;18(1):104-117. https://doi.org/10.1016/j.stem.2015.10.003. · DOI
- Marathe HG, Watkins-Chow DE, Weider M, et al. BRG1 interacts with SOX10 to establish the melanocyte lineage and to promote differentiation. Nucleic Acids Res. 2017;45(11):6442-6458. https:// doi.org/10.1093/nar/gkx259. · DOI
- Zwane TBC, Nikitina NV. Spatiotemporal expression analy- sis of Prdm1 and Prdm1 binding partners in early chick embryo. Gene Expr Patterns. 2015;17(1):56-68. https://doi.org/10.1016/j. gep.2014.12.003. · DOI
- Gyory I, Wu J, Fejer G, Seto E, Wright KL. PRDI-BF1 recruits the histone H3 methyltransferase G9a in transcriptional silencing. Nat. Immunol. 2004;5(3):299-308. https://doi.org/10.1038/ni1046. · DOI
- Yu J, Angelin-Duclos C, Greenwood J, Liao J, Calame K. Transcriptional repression by Blimp-1 (PRDI-BF1) involves re- cruitment of histone deacetylase. Mol. Cell. Biol. 2000;20(7):2592- 2603. https://doi.org/10.1128/Mcb.20.7.2592-2603.2000. · DOI
- Roy S, Ng T. Blimp-1 specifies neural crest and sensory neuron progenitors in the zebrafish embryo. Curr. Biol. 2004;14(19):1772- 1777. https://doi.org/10.1016/j.cub.2004.09.046. · DOI
- Hernandez-Lagunas L, Choi IF, Kaji T, et al. Zebrafish narrowminded disrupts the transcription factor prdm1 and is required for neural crest and sensory neuron specification. Dev. Biol. 2005;278(2):347- 357. https://doi.org/10.1016/j.ydbio.2004.11.014. · DOI
- Powell DR, Hernandez-Lagunas L, LaMonica K, Artinger KB. Prdm1a directly activates foxd3 and tfap2a during zebrafish neural crest specification. Development. 2013;140(16):3445-3455. https://doi.org/10.1242/dev.096164. · DOI
- Wilms C, Kroeger CM, Hainzl AV, et al. MYSM1/2A-DUB is an epi- genetic regulator in human melanoma and contributes to tumor cell growth. Oncotarget. 2017;8(40):67287-67299.
- Liakath-Ali K, Vancollie VE, Heath E, et al. Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen. Nat Commun. 2014;5(1): https://doi.org/10.1038/ncomm s4540 · DOI
- Zhu P, Zhou WL, Wang JX, et al. A histone H2A deubiquitinase complex coordinating histone acetylation and H1 dissociation in transcriptional regulation. Mol. Cell. 2007;27(4):609-621. https:// doi.org/10.1016/j.molcel.2007.07.024. · DOI
- Bajpai R, Chen DA, Rada-Iglesias A, et al. CHD7 cooperates with PBAF to control multipotent neural crest formation. Nature. 2010;463(7283):958-U135. https://doi.org/10.1038/natur e08733. · DOI
- Chai M, Sanosaka T, Okuno H, et al. Chromatin remodeler CHD7 regulates the stem cell identity of human neural progen- itors. Gene Dev. 2018;32(2):165-180. https://doi.org/10.1101/ gad.301887.117. · DOI
- Fujita K, Ogawa R, Kawawaki S, Ito K. Roles of chromatin remod- elers in maintenance mechanisms of multipotency of mouse trunk neural crest cells in the formation of neural crest-derived stem cells. Mech Develop. 2014;133:126-145. https://doi.org/10.1016/j. mod.2014.05.001. · DOI
- Fujita K, Ogawa R, Ito K. CHD7, Oct3/4, Sox2, and Nanog control FoxD3 expression during mouse neural crest-derived stem cell formation. Febs J. 2016;283(23):4402. https://doi.org/10.1111/ febs.13942. · DOI
- Trotter KW, Archer TK. The BRG1 transcriptional coregulator. Nucl Recept Signal. 2008;6:e004. https://doi.org/10.1621/nrs.06004 · DOI
- Clapier CR, Iwasa J, Cairns BR, Peterson CL. Mechanisms of ac- tion and regulation of ATP-dependent chromatin-remodelling complexes. Nat Rev Mol Cell Bio. 2017;18(7):407-422. https://doi. org/10.1038/nrm.2017.26. · DOI · Paper page
- Eroglu B, Wang GH, Tu NT, Sun X, Mivechi NF. Critical role of Brg1 member of the SWI/SNF chromatin remodeling complex during neurogenesis and neural crest induction in zebrafish. Dev Dynam. 2006;235(10):2722-2735. https://doi.org/10.1002/ dvdy.20911. · DOI
- Lou X, Burrows JTA, Scott IC. Med14 cooperates with brg1 in the differentiation of skeletogenic neural crest. Bmc Dev Biol. 2015;15. https://doi.org/10.1186/s1286 1-015-0090-9 · DOI
- Li W, Xiong YQ, Shang C, et al. Brg1 governs distinct pathways to direct multiple aspects of mammalian neural crest cell develop- ment. Proc Natl Acad Sci USA. 2013;110(5):1738-1743. https://doi. org/10.1073/pnas.12180 72110. · DOI
- Keenen B, Qi H, Saladi SV, Yeung M, de la Serna IL. Heterogeneous SWI/SNF chromatin remodeling complexes promote expression of microphthalmia-associated transcription factor target genes in melanoma. Oncogene. 2010;29(1):81-92. https://doi.org/10.1038/ onc.2009.304. · DOI
- de la Serna IL, Ohkawa Y, Higashi C, et al. The microphthalmia- associated transcription factor requires SWI/SNF en- zymes to activate melanocyte-specific genes. J Biol Chem. 2006;281(29):20233-20241. https://doi.org/10.1074/jbc.M5120 52200. · DOI
- Nishimura EK, Jordan SA, Oshima H, et al. Dominant role of the niche in melanocyte stem-cell fate determination. Nature. 2002;416(6883):854-860. https://doi.org/10.1038/416854a. · DOI
- Botchkareva NV, Botchkarev VA, Gilchrest BA. Fate of me- lanocytes during development of the hair follicle pigmentary unit. J Invest Derm Symp Proc. 2003;8(1):76-79. https://doi. org/10.1046/j.1523-1747.2003.12176.x · DOI
- Sharov A, Tobin DJ, Sharova TY, Atoyan R, Botchkarev VA. Changes in different melanocyte populations during hair follicle involution (catagen). J Invest Dermatol. 2005;125(6):1259-1267. https://doi.org/10.1111/j.0022-202X.2005.23959.x. · DOI
- Osawa M, Egawa G, Mak SS, et al. Molecular characteriza- tion of melanocyte stem cells in their niche. Development. 2005;132(24):5589-5599. https://doi.org/10.1242/dev.02161. · DOI
- Xiao H, Sandaltzopoulos R, Wang HM, et al. Dual functions of larg- est NURF subunit NURF301 in nucleosome sliding and transcrip- tion factor interactions. Mol. Cell. 2001;8(3):531-543. https://doi. org/10.1016/S1097 -2765(01)00345 -8. · DOI
- Hamiche A, Kang JG, Dennis C, Xiao H, Wu C. Histone tails modu- late nucleosome mobility and regulate ATP-dependent nucleosome sliding by NURF. Proc Natl Acad Sci USA. 2001;98(25):14316- 14321. https://doi.org/10.1073/pnas.25142 1398. · DOI
- Barak O, Lazzaro MA, Lane WS, Speicher DW, Picketts DJ, Shiekhattar R. Isolation of human NURF: a regulator of Engrailed gene expression. Embo J. 2003;22(22):6089-6100. https://doi. org/10.1093/emboj/ cdg582. · DOI
- Wysocka J, Swigut T, Xiao H, et al. A PHD finger of NURF couples histone H3 lysine 4 trimethylation with chromatin remodelling. Nature. 2006;442(7098):86-90. https://doi.org/10.1038/natur e04815. · DOI
- Ruthenburg AJ, Li HT, Milne TA, et al. Recognition of a mononu- cleosomal histone modification pattern by BPTF via multivalent interactions. Cell. 2011;145(5):692-706. https://doi.org/10.1016/j. cell.2011.03.053. · DOI
- Badenhorst P, Voas M, Rebay I, Wu C. Biological functions of the ISWI chromatin remodeling complex NURF. Gene Dev. 2002;16(24):3186-3198. https://doi.org/10.1101/gad.1032202. · DOI
- Koludrovic D, Laurette P, Strub T, et al. Chromatin-remodelling complex NURF is essential for differentiation of adult mela- nocyte stem cells. PLoS Genet.. 2015;11(10). 10.1371/journal. pgen.1005555 · DOI
- Kim H, Kang K, Ekram MB, Roh TY, Kim J. Aebp2 as an epigen- etic regulator for neural crest cells. PLoS One. 2011;6(9):e25174. https://doi.org/10.1371/journ al.pone.0025174 · DOI
- Tien CL, Jones A, Wang HB, Gerigk M, Nozell S, Chang CB. Snail2/ Slug cooperates with Polycomb repressive complex 2 (PRC2) to regulate neural crest development. Development. 2015;142(4):722- 731. https://doi.org/10.1242/dev.111997. · DOI
- Lanzuolo C, Orlando V. Memories from the polycomb group proteins. Ann Rev Gene. 2012;46(46):561-589. https://doi. org/10.1146/annur ev-genet -11071 1-155603. · DOI
- Boyer LA, Plath K, Zeitlinger J, et al. Polycomb complexes re- press developmental regulators in murine embryonic stem cells. Nature. 2006;441(7091):349-353. https://doi.org/10.1038/natur e04733. · DOI
- Jaenisch R, Young R. Stem cells, the molecular circuitry of plurip- otency and nuclear reprogramming. Cell. 2008;132(4):567-582. https://doi.org/10.1016/j.cell.2008.01.015. · DOI
- Pérez-Losada J, Sánchez-Martín M, Rodríguez-García A, et al. Zinc-finger transcription factor Slug contributes to the function of the stem cell factor c-kit signaling pathway. Blood. 2002;100(4):1274-1286.
- Peinado H, Olmeda D, Cano A. Snail, Zeb and bHLH factors in tu- mour progression: an alliance against the epithelial phenotype? Nat Rev Cancer. 2007;7(6):415-428. https://doi.org/10.1038/ nrc2131. · DOI · Paper page
- Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Review and update of mutations causing waarden- burg syndrome. Hum. Mutat. 2010;31(4):391-406. https://doi. org/10.1002/humu.21211. · DOI
- Ezhkova E, Lien WH, Stokes N, Pasolli HA, Silva JM, Fuchs E. EZH1 and EZH2 cogovern histone H3K27 trimethylation and are essential for hair follicle homeostasis and wound repair. Gene Dev. 2011;25(5):485-498. https://doi.org/10.1101/gad.2019811. · DOI · Paper page
- Ezhkova E, Pasolli HA, Parker JS, et al. Ezh2 orchestrates gene expression for the stepwise differentiation of tissue-specific stem cells. Cell. 2009;136(6):1122-1135. https://doi.org/10.1016/j. cell.2008.12.043. · DOI
- Huang JM, Hornyak TJ. Polycomb group proteins -epigenetic repressors with emerging roles in melanocytes and melanoma. Pigment Cell Melanoma Res. 2015;28(3):330-339. https://doi. org/10.1111/pcmr.12341 · DOI
- Nishimura EK, Suzuki M, Igras V, et al. Key roles for transform- ing growth factor beta in melanocyte stem cell maintenance. Cell Stem Cell. 2010;6(2):130-140. https://doi.org/10.1016/j. stem.2009.12.010. · DOI
- Rabbani P, Takeo M, Chou WC, et al. Coordinated activation of Wnt in epithelial and melanocyte stem cells initiates pigmented hair re- generation. Cell. 2011;145(6):941-955. https://doi.org/10.1016/j. cell.2011.05.004. · DOI
- Huelsken J, Vogel R, Erdmann B, Cotsarelis G, Birchmeier W. beta-catenin controls hair follicle morphogenesis and stem cell differentiation in the skin. Cell. 2001;105(4):533-545. https://doi. org/10.1016/S0092 -8674(01)00336 -1. · DOI
- Hoffmeyer K, Junghans D, Kanzler B, Kemler R. Trimethylation and acetylation of beta-catenin at lysine 49 represent key elements in ESC pluripotency. Cell Rep. 2017;18(12):2815-2824. https://doi. org/10.1016/j.celrep.2017.02.076. · DOI
- Talbert PB, Henikoff S. Histone variants on the move: substrates for chromatin dynamics. Nat Rev Mol Cell Bio. 2017;18(2):115-126. https://doi.org/10.1038/nrm.2016.148. · DOI
- Raja DA, Subramaniam Y, Aggarwal A, et al. Histone variant dic- tates fate biasing of neural crest cells to melanocyte lineage. Development. 2020;147(5). https://doi.org/10.1242/dev.182576 · DOI
- Greenberg RS, Long HK, Swigut T, Wysocka J. Single amino acid change underlies distinct roles of H2A.Z subtypes in human syndrome. Cell. 2019;178(6):1421. https://doi.org/10.1016/j. cell.2019.08.002 · DOI
- Cheung M, Briscoe J. Neural crest development is regulated by the transcription factor Sox9. Development. 2003;130(23):5681-5693. https://doi.org/10.1242/dev.00808. · DOI · Paper page
- Passeron T, Valencia JC, Bertolotto C, et al. SOX9 is a key plaver in ultraviolet B-induced melanocyte differentiation and pigmenta- tion. Proc Natl Acad Sci USA. 2007;104(35):13984-13989. https:// doi.org/10.1073/pnas.07051 17104. · DOI
- Punzeler S, Link S, Wagner G, et al. Multivalent binding of PWWP2A to H2A.Z regulates mitosis and neural crest differenti- ation. Embo J. 2017;36(15):2263-2279. https://doi.org/10.15252/ embj.20169 5757. · DOI
- Zhou CY, Johnson SL, Gamarra NI, Narlikar GJ. Mechanisms of ATP-dependent chromatin remodeling motors. Annu Rev Biophys. 2016;45:153-181. https://doi.org/10.1146/annur ev-bioph ys- 05101 3-022819. 100. Liang XP, Shan S, Pan L, et al. Structural basis of H2A.Z recognition by SRCAP chromatin-remodeling subunit YL1. Nat Struct Mol Biol. 2016;23(4):317-323. https://doi.org/10.1038/nsmb.3190 101. · DOI
- Nikkel SM, Dauber A, de Munnik S, et al. The phenotype of Floating-Harbor syndrome: clinical characterization of 52 indi- viduals with mutations in exon 34 of SRCAP. Orphanet J Rare Dis. 2013;8:63. https://doi.org/10.1186/1750-1172-8-63 102. · DOI
- Hood RL, Lines MA, Nikkel SM, et al. Mutations in SRCAP, en- coding SNF2-Related CREBBP activator protein, cause floating- harbor syndrome. Am J Human Gene. 2012;90(2):308-313. https:// doi.org/10.1016/j.ajhg.2011.12.001. 103. Cox SG, Kim H, Garnett AT, et al. PLoS Genet.. 2012;8(9):e1002938. https://doi.org/10.1371/journ al.pgen.1002938 104. Long HK, Prescott SL, Wysocka J. Ever-changing land- scapes: transcriptional enhancers in development and evolution. Cell. 2016;167(5):1170-1187. https://doi.org/10.1016/j. cell.2016.09.018. 105. Gorkin DU, Lee D, Reed X, et al. Integration of ChIP-seq and machine learning reveals enhancers and a predictive regulatory sequence vocabulary in melanocytes. Genome Res. 2012;22(11):2290-2301. https://doi.org/10.1101/gr.139360.112. 106. Schwahn DJ, Timchenko NA, Shibahara S, Medrano EE. Dynamic regulation of the human dopachrome tautomerase promoter by MITF, ER-alpha and chromatin remodelers during proliferation and senescence of human melanocytes. Pigm Cell Res. 2005;18(3):203- 213. https://doi.org/10.1111/j.1600-0749.2005.00229.x. 107. Sato S, Roberts K, Gambino G, Cook A, Kouzarides T, Goding CR. CBP/p300 as a co-factor for the Microphthalmia transcription fac- tor. Oncogene. 1997;14(25):3083-3092. https://doi.org/10.1038/ sj.onc.1201298. 108. Price ER, Ding HF, Badalian T, et al. Lineage-specific signaling in melanocytes -c-Kit stimulation recruits p300/CBP to microph- thalmia. J Biol Chem. 1998;273(29):17983-17986. https://doi. org/10.1074/jbc.273.29.17983. 109. Wu M, Hemesath TJ, Takemoto CM, et al. c-Kit triggers dual phos- phorylations, which couple activation and degradation of the es- sential melanocyte factor Mi. Gene Dev. 2000;14(3):301-312. 110. Fufa TD, Harris ML, Watkins-Chow DE, et al. Genomic anal- ysis reveals distinct mechanisms and functional classes of SOX10-regulated genes in melanocytes. Human Mol Gen. 2015;24(19):5433-5450. https://doi.org/10.1093/hmg/ddv267. 111. Verfaillie A, Imrichova H, Atak ZK, et al. Decoding the regula- tory landscape of melanoma reveals TEADS as regulators of the invasive cell state. Nat Commun. 2015;6:6683. https://doi. org/10.1038/ncomm s7683 112. · DOI · Paper page
- Coelho SG, Choi W, Brenner M, et al. Short-and long-term ef- fects of UV radiation on the pigmentation of human skin. J Invest Derm Symp Proc. 2009;14(1):32-35. https://doi.org/10.1038/jidsy mp.2009.10 113 · DOI · Paper page
- Nan H, Kraft P, Qureshi AA, et al. Genome-wide association study of tanning phenotype in a population of european ancestry. J Invest Dermatol. 2009;129(9):2250-2257. https://doi.org/10.1038/ jid.2009.62. 118. Zhang M, Song F, Liang L, et al. Genome-wide association stud- ies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. Hum Mol Genet. 2013;22(14):2948-2959. https://doi.org/10.1093/hmg/ddt142. 119. Jacobs LC, Hamer MA, Gunn DA, et al. A Genome-wide associ- ation study identifies the skin color genes IRF4, MC1R, ASIP, and BNC2 influencing facial pigmented spots. J Invest Dermatol. 2015;135(7):1735-1742. https://doi.org/10.1038/jid.2015.62. 120. · DOI
- Kenny EE, Timpson NJ, Sikora M, et al. Melanesian blond hair is caused by an amino acid change in TYRP1. Science. 2012;336(6081):554. https://doi.org/10.1126/scien ce.1217849. 121. Morgan MD, Pairo-Castineira E, Rawlik K, et al. Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. Nature Commun. 2018;9(1): https://doi.org/10.1038/ s4146 7-018-07691 -z 122. · DOI
- Ikehata H, Ono T. The Mechanisms of UV Mutagenesis. J Radiat Res. 2011;52(2):115-125. https://doi.org/10.1269/jrr.10175. 125. Guo RF, Chen J, Mitchell DL, Johnson DG. GCN5 and E2F1 stimu- late nucleotide excision repair by promoting H3K9 acetylation at sites of damage. Nucleic Acids Res. 2011;39(4):1390-1397. https:// doi.org/10.1093/nar/gkq983. 126. Ding S, Chen J, Zeng Q, et al. Chronic sun exposure is associ- ated with distinct histone acetylation changes in human skin. Brit J Dermatol. 2018;179(1):110-117. https://doi.org/10.1111/ bjd.16129. 127. Han CP, Yang HJ, Li B, Wang ZY. Exogenous pyruvate facili- tates ultraviolet B-induced DNA damage repair by promoting H3K9 acetylation in keratinocytes and melanocytes. Biomed Pharmacother. 2020;126:110082. https://doi.org/10.1016/j. biopha.2020.110082 128. Smith DR, Spaulding DT, Glenn HM, Fuller BB. The relationship between Na+/H+ exchanger expression and tyrosinase activity in human melanocytes. Experim Cell Res. 2004;298(2):521-534. https://doi.org/10.1016/j.yexcr.2004.04.033. 129. Le L, Escobar IE, Ho T, et al. SLC45A2 protein stability and regula- tion of melanosome pH determine melanocyte pigmentation. Mol Biol Cell. 2020;31(24):2687-2702. https://doi.org/10.1091/mbc. E20-03-0200. 130. Raja DA, Gotherwal V, Burse SA, et al. pH-controlled histone acetylation amplifies melanocyte differentiation downstream of MITF. Embo Rep. 2020;21(1):e48333. https://doi.org/10.15252/ embr.20194 8333. · DOI
Cited by
Sorted by citations
Lu, J., Podobnik, M., Huang, J., McCluskey, B. M., McCarthy, S. A., Wood, J., Collins, J., Torrance, J., Sims, Y., Gao, D., et al. (2025) · doi:10.1101/2025.10.17.682988 · Cited by 4 · see citing works
- Authors
- Dilshat, R., Vu, H. N., & Steingrímsson, E.
- Affiliations
- University of Iceland (IS)
- Department of Biochemistry and Molecular Biology Faculty of Medicine BioMedical Center University of Iceland Reykjavik Iceland
- Venue
- Experimental Dermatology
- Publisher
- Wiley
- Published
- 2021-05-31
- Volume
- 30
- Issue
- 8
- Pages
- 1033-1050
- ISSN
- 0906-6705 (ISSN-L)
- 1600-0625
- OpenAlex
- W3160631769
- Cited by
- 23
- References
- 6
- Citations by year
- 2026: 5 · 2025: 5 · 2024: 4 · 2023: 4 · 2022: 4 · 2021: 1
- FWCI
- 0.41
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Experimental Dermatology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Melanoma and MAPK Pathways
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Keywords
- melanocytes, epigenetic regulation, melanocyte development, melanocyte homeostasis, neural crest, melanocyte migration, melanocyte differentiation, transcription factors, signaling pathways, histone modifications, epigenetic regulators, UV protection, pigmentation
- MeSH terms
- Animals, Homeostasis, Humans, Melanocytes, Transcription Factors, Cell Lineage, Epigenesis, Genetic, Mice
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review