Molecular heterogeneity of quiescent melanocyte stem cells revealed by single‐cell RNA‐sequencing DOI Creative Commons
Joseph W. Palmer, Nilesh Kumar, Luye An

et al.

Pigment Cell & Melanoma Research, Journal Year: 2024, Volume and Issue: 37(4), P. 480 - 495

Published: April 13, 2024

Abstract Melanocyte stem cells (McSCs) of the hair follicle are a rare cell population within skin and notably underrepresented in whole‐skin, single‐cell RNA sequencing (scRNA‐seq) datasets. Using enrichment strategy to isolate KIT+/CD45− from telogen adult female C57BL/6J mice, we evaluated transcriptional landscape quiescent McSCs (qMcSCs) at high resolution. Through this evaluation, confirmed existing molecular signatures for qMcCS subpopulations (e.g., Kit+ , Cd34+/− Plp1+ Cd274+/− Thy1+ Cdh3+/− ) identified novel qMcSC subpopulations, including two that differentially regulate their immune privilege status. Within also predicted melanocyte differentiation potential, neural crest quiescence depth. Taken together, results demonstrate is heterogeneous future studies focused on investigating changes qMcSCs should consider subpopulation composition.

Language: Английский

A genome-wide genetic screen uncovers determinants of human pigmentation DOI
Vivek K. Bajpai, Tomek Swigut, Jaaved Mohammed

et al.

Science, Journal Year: 2023, Volume and Issue: 381(6658)

Published: Aug. 10, 2023

Skin color, one of the most diverse human traits, is determined by quantity, type, and distribution melanin. In this study, we leveraged light-scattering properties melanin to conduct a genome-wide screen for regulators melanogenesis. We identified 169 functionally genes that converge on melanosome biogenesis, endosomal transport, gene regulation, which 135 represented previously unknown associations with pigmentation. agreement their melanin-promoting function, majority hits were up-regulated in melanocytes from darkly pigmented individuals. further unraveled functions KLF6 as transcription factor regulates maturation pigmentation vivo, trafficking protein COMMD3 modulating melanosomal pH. Our study reveals plethora genes, broad implications variation, cell biology, medicine.

Language: Английский

Citations

21
TFAP2 paralogs facilitate chromatin access for MITF at pigmentation and cell proliferation genes DOI Creative Commons
Colin Kenny, Ramile Dilshat, Hannah Seberg

et al.

PLoS Genetics, Journal Year: 2022, Volume and Issue: 18(5), P. e1010207 - e1010207

Published: May 17, 2022

In developing melanocytes and in melanoma cells, multiple paralogs of the Activating-enhancer-binding Protein 2 family transcription factors (TFAP2) contribute to expression genes encoding pigmentation regulators, but their interaction with Microphthalmia factor (MITF), a master regulator these is unclear. Supporting model that TFAP2 facilitates MITF’s ability activate genes, single-cell seq analysis zebrafish embryos revealed are only expressed subset mitfa -expressing cells also express tfap2 paralogs. To test this SK-MEL-28 we deleted two highest expression, TFAP2A TFAP2C , creating knockout ( -KO) cells. We then assessed gene chromatin accessibility, binding MITF, marks H3K27Ac H3K27Me3 which characteristic active enhancers silenced chromatin, respectively. Integrated analyses datasets indicate directly near enriched for roles proliferation, repress cell adhesion. Consistently, compared WT -KO proliferate less adhere one another more. MITF co-operatively enhancers, former necessary accessibility. By contrast, do not appear inhibit enhancers. These studies reveal mechanism by profoundly influences set activated thereby phenotype pigment

Language: Английский

Citations

26
Genomic and transcriptomic landscape to decipher the genetic basis of hyperpigmentation in Lanping black-boned sheep (Ovis aries) DOI Creative Commons
Yuqing Chong, Heli Xiong, Zhendong Gao

et al.

BMC Genomics, Journal Year: 2024, Volume and Issue: 25(1)

Published: Sept. 9, 2024

Language: Английский

Citations

5
Evolutionary genetics of skin pigmentation in African populations DOI Open Access
Yuanqing Feng, Michael A. McQuillan, Sarah A. Tishkoff

et al.

Human Molecular Genetics, Journal Year: 2021, Volume and Issue: 30(R1), P. R88 - R97

Published: Jan. 8, 2021

Skin color is a highly heritable human trait, and global variation in skin pigmentation has been shaped by natural selection, migration admixture. Ethnically diverse African populations harbor extremely high levels of genetic phenotypic diversity, varies widely across Africa. Recent genome-wide studies have advanced our understanding biology evolutionary history. For example, novel roles for loci near MFSD12 DDB1 recently identified populations. However, due to an underrepresentation Africans studies, there still much learn about the genetics pigmentation. Here, we summarize recent progress discuss importance including more ethnically future studies. In addition, methods functional validation adaptive variants related

Language: Английский

Citations

30
Recent omics advances in hair aging biology and hair biomarkers analysis DOI
Sunil S. Adav, Kee Woei Ng

Ageing Research Reviews, Journal Year: 2023, Volume and Issue: 91, P. 102041 - 102041

Published: Aug. 25, 2023

Language: Английский

Citations

12
Glutathione amino acid precursors protect skin from UVB‐induced damage and improve skin tone DOI Open Access
Xiao Cui,

Tingyan Mi,

Hong Zhang

et al.

Journal of the European Academy of Dermatology and Venereology, Journal Year: 2024, Volume and Issue: 38(S3), P. 12 - 20

Published: Jan. 1, 2024

Abstract Background UV radiation exposure causes skin irritation, erythema, darkening and barrier disruption by inducing oxidative stress inflammation. Glutathione, a master antioxidant, plays an important role in the antioxidant defence network of skin. Objective This study aimed to assess vitro protective effects glutathione amino acid precursors blend (GAP) on transcriptomic phenotypic endpoints against UVB‐induced challenges. Methods Normal human epidermal melanocytes (NHEMs) were exposed GAP, ascorbic (AA) its derivatives. Viability was assessed using CCK8 method. Melakutis®, pigmented living equivalent (pLSE) model, underwent repeated 50 mJ/cm 2 UVB irradiation with or without GAP treatment. Images model captured consistent camera parameters, model's light intensity measured spectrophotometer. Melanin content determined measuring absorbance at 405 nm. Confirmation melanin deposition distribution achieved through Fontana‐Masson staining. Transcriptomic analysis conducted RNA sequencing (RNA‐Seq), machine learning approach employed for aging clock analysis. Results In NHEMs, all tested compounds exhibited over 85% viability compared vehicle control, indicating no heightened risk cytotoxicity. Notably, demonstrated greater efficacy inhibiting production than AA derivatives concentrations. pLSE models, notably enhanced lightness, reduced following challenge, whereas showed minimal impact. effectively counteracted alterations gene expression linked pigmentation, inflammation aging. Moreover, recurrent substantially elevated biological age phenomenon mitigated Conclusions effectiveness identical doses comparison Noteworthy observed as evidenced pigmentation measurements changes.

Language: Английский

Citations

4
Differential expression and alternative splicing analyses of multiple tissues reveal albinism-associated genes in the Wels catfish (Silurus glanis) DOI Creative Commons
Mikhail Ozerov, Kristina Noreikienė, Siim Kahar

et al.

Comparative Biochemistry and Physiology Part B Biochemistry and Molecular Biology, Journal Year: 2024, Volume and Issue: 271, P. 110941 - 110941

Published: Jan. 11, 2024

Albinism is a widespread departure from typical body colouration due to altered melanin production. The Wels catfish (Silurus glanis) among the largest freshwater fish species in world, and albino individuals occur both wild aquaculture. Here, we performed transcriptome-wide analysis of normally pigmented S. glanis using four tissues (skin, dorsal fin, whole eye liver) identify genes associated with albinism by exploring patterns differential expression (DE) alternative splicing (DAS). Multi-tissue analyses revealed large number skin (n = 1355) fin 614) tissue phenotype glanis, while DE liver was lower 188, n 189, respectively). Several across multiple were detected as most promising candidates (e.g., hsp4, hsp90b1, raph1, uqcrfs1, adcy-family wnt-family) potentially causally linked catfish. Moreover, our findings supported earlier observations physiological differences between individuals, particularly energy metabolism immune response. In contrast, there only few pigmentation-related observed DAS (4 skin, 2 fin), overlap low 25) did not include known genes. This suggests that are, extent, independent processes, cases are probably glanis. work provides first multi-tissue insights into serves valuable resource for further understanding genetic mechanisms pigmentation fish.

Language: Английский

Citations

4
Decoding the fish genome opens a new era in important trait research and molecular breeding in China DOI
Qian Zhou, Jia‐Lin Wang, Jiong-Tang Li

et al.

Science China Life Sciences, Journal Year: 2024, Volume and Issue: 67(10), P. 2064 - 2083

Published: Aug. 12, 2024

Language: Английский

Citations

4
Melanin and Neuromelanin: Linking Skin Pigmentation and Parkinson's Disease DOI
Talia Krainc, Mariana H.G. Monje,

Morgan Kinsinger

et al.

Movement Disorders, Journal Year: 2022, Volume and Issue: 38(2), P. 185 - 195

Published: Nov. 9, 2022

Abstract Neuromelanin‐containing dopaminergic neurons in the substantia nigra pars compacta (SNpc) are most vulnerable Parkinson's disease (PD). Recent work suggests that accumulation of oxidized dopamine and neuromelanin mediate convergence mitochondrial lysosomal dysfunction patient‐derived neurons. In addition, expression human tyrosinase mouse SNpc led to formation resulting degeneration nigral neurons, further highlighting importance PD. The potential role PD pathogenesis has been supported by epidemiological observations, whereby individuals with lighter pigmentation or cutaneous malignant melanoma exhibit higher incidence Because melanin share many functional characteristics overlapping biosynthetic pathways, it postulated genes involved skin may play a susceptibility midbrain neurodegeneration. Here, we highlight mechanisms explain link between PD, focusing on We also discuss genetic ancestry assessing contribution pigmentation‐related risk © 2022 International Parkinson Movement Disorder Society.

Language: Английский

Citations

17
Under pressure: evidence for selection on color-related genes in poison frogs of the genus Ranitomeya DOI Creative Commons
Andrew O. Rubio, Adam M. M. Stuckert, Troy M. LaPolice

et al.

Evolutionary Ecology, Journal Year: 2024, Volume and Issue: 38(5), P. 639 - 655

Published: April 12, 2024

Abstract Aposematic organisms rely on their bright conspicuous coloration to communicate potential predators that they are toxic and unpalatable. These aposematic phenotypes strongly tied survival therefore make excellent opportunities investigate the genetic underpinning of coloration. The genus Ranitomeya includes phenotypically diverse members Neotropical poison frogs native South America. Significant progress has been made in elucidating molecular mechanisms responsible for frogs, which have paved way future studies test hypotheses evolution across vertebrates. However, very little is known about whether these color related genes under positive selection. We assembled transcriptomes from publicly available data reads sets 9 different morphs display (four R. imitator , two variabilis fantastica one morph summersi ) identify protein-coding production Our results show there multiple strong selection predicted play roles melanin synthesis ( dct, tyrp1, irf4 ), iridophore development fhl1 keratin metabolism ovol1 pteridine prps1 xdh carotenoid adh1b, aldh2 ). identification affecting candidate color-pattern consistent with possibility mediate (in part) This may be attributed being directly reproduction frogs.

Language: Английский

Citations

3