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 patient with TPCN2-related hypopigmentation and ocular phenotype DOI Creative Commons

Cécile Courdier,

Vincent Michaud, Modibo Diallo

et al.

European Journal of Human Genetics, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 14, 2025

Language: Английский

Citations

2

Thyroid hormone regulates distinct paths to maturation in pigment cell lineages DOI Creative Commons
Lauren M. Saunders, Abhishek Kumar Mishra, Andrew J. Aman

et al.

eLife, Journal Year: 2019, Volume and Issue: 8

Published: May 29, 2019

Thyroid hormone (TH) regulates diverse developmental events and can drive disparate cellular outcomes. In zebrafish, TH has opposite effects on neural crest derived pigment cells of the adult stripe pattern, limiting melanophore population expansion, yet increasing yellow/orange xanthophore numbers. To learn how elicits seemingly responses in having a common embryological origin, we analyzed individual transcriptomes from thousands crest-derived cells, reconstructed trajectories, identified cell-lineage specific to TH, assessed roles for receptors. We show that promotes maturation both cell types but distinct ways. melanophores, drives terminal differentiation, final xanthophores, accumulation orange carotenoids, making visible. receptors act primarily repress these programs when is limiting. Our findings single endocrine factor integrates very different activities during generation form.

Language: Английский

Citations

143

The Genetics of Human Skin and Hair Pigmentation DOI Open Access
William J. Pavan, Richard A. Sturm

Annual Review of Genomics and Human Genetics, Journal Year: 2019, Volume and Issue: 20(1), P. 41 - 72

Published: May 18, 2019

Human skin and hair color are visible traits that can vary dramatically within across ethnic populations. The genetic makeup of these traits—including polymorphisms in the enzymes signaling proteins involved melanogenesis, vital role ion transport mechanisms operating during maturation distribution melanosome—has provided new insights into regulation pigmentation. A large number novel loci process have been recently discovered through four large-scale genome-wide association studies Europeans, two Africans, one study Latin Americans, functional testing animal models. responsible pigmentation genes appear at different population frequencies, be used as ancestry-informative markers, provide insight evolutionary selective forces acted to create this human diversity.

Language: Английский

Citations

132

The diverse neural crest: from embryology to human pathology DOI Open Access
Heather Etchevers, Élisabeth Dupin, Nicole M. Le Douarin

et al.

Development, Journal Year: 2019, Volume and Issue: 146(5)

Published: March 1, 2019

We review here some of the historical highlights in exploratory studies vertebrate embryonic structure known as neural crest. The study molecular properties cells that it produces, their migratory capacities and plasticity, still-growing list tissues depend on presence for form function, continue to enrich our understanding congenital malformations, paediatric cancers evolutionary biology. Developmental biology has been key crest, starting with early days experimental embryology through today, when increasingly powerful technologies contribute further insight into this fascinating cell population.

Language: Английский

Citations

110

Human melanocyte development and melanoma dedifferentiation at single-cell resolution DOI
R.L. Belote, Daniel Le, Ashley Maynard

et al.

Nature Cell Biology, Journal Year: 2021, Volume and Issue: 23(9), P. 1035 - 1047

Published: Sept. 1, 2021

Language: Английский

Citations

95

Decoding the Evolution of Melanin in Vertebrates DOI Creative Commons
Maria E. McNamara, Valentina Rossi, Tiffany S. Slater

et al.

Trends in Ecology & Evolution, Journal Year: 2021, Volume and Issue: 36(5), P. 430 - 443

Published: Feb. 5, 2021

Melanins are widespread pigments in vertebrates, with important roles visual signaling, UV protection, and homeostasis. Fossil evidence of melanin melanin-bearing organelles - melanosomes ancient vertebrates may illuminate the evolution its functions, but macroevolutionary trends poorly resolved. Here, we integrate fossil data current understanding function, biochemistry, genetics. Mapping key genes onto phenotypic attributes identifies potential genomic controls on evolution. Taxonomic anatomical location, geometry, chemistry vertebrate linked to endothermy. These shifts biology suggest fundamental links between melanization ecology. Tissue-specific taxonomic support for evolutionary tradeoffs function cytotoxicity.

Language: Английский

Citations

85

Integrative functional genomic analyses identify genetic variants influencing skin pigmentation in Africans DOI
Yuanqing Feng, Ning Xie, Fumitaka Inoue

et al.

Nature Genetics, Journal Year: 2024, Volume and Issue: 56(2), P. 258 - 272

Published: Jan. 10, 2024

Language: Английский

Citations

9

Reprogramming of three-dimensional microenvironments for in vitro hair follicle induction DOI Creative Commons
Tatsuto Kageyama, Akihiro Shimizu,

Riki Anakama

et al.

Science Advances, Journal Year: 2022, Volume and Issue: 8(42)

Published: Oct. 21, 2022

During embryonic development, reciprocal interactions between epidermal and mesenchymal layers trigger hair follicle morphogenesis. This study revealed that microenvironmental reprogramming via control over these enabled induction in vitro. A key approach is to modulate spatial distributions of epithelial cells their spontaneous organization. The de novo follicles with typical morphological features emerged aggregates the two cell types, termed follicloids, shafts sprouted near 100% efficiency shaft length reached ~3 mm culture. Typical trichogenic signaling pathways were up-regulated follicloids. Owing replication morphogenesis vitro, melanosome production transportation also monitored bulb region. vitro model might be valuable for better understanding induction, evaluating growth inhibition by drugs, modeling gray hairs a well-defined environment.

Language: Английский

Citations

36

Characterizing mobile element insertions in 5675 genomes DOI Creative Commons
Yiwei Niu, Xueyi Teng, Honghong Zhou

et al.

Nucleic Acids Research, Journal Year: 2022, Volume and Issue: 50(5), P. 2493 - 2508

Published: Feb. 11, 2022

Mobile element insertions (MEIs) are a major class of structural variants (SVs) and have been linked to many human genetic disorders, including hemophilia, neurofibromatosis, various cancers. However, MEI resources from large-scale genome sequencing still lacking compared those for SNPs SVs. Here, we report comprehensive map 36 699 non-reference MEIs constructed 5675 genomes, comprising 2998 Chinese samples (∼26.2×, NyuWa) 2677 the 1000 Genomes Project (∼7.4×, 1KGP). We discovered that LINE-1 were highly enriched in centromere regions, implying role chromosome context retroelement insertion. After functional annotation, estimated responsible about 9.3% all protein-truncating events per genome. Finally, built companion database named HMEID public use. This resource represents latest largest genomewide study on will broad utility exploration findings.

Language: Английский

Citations

29

Piebaldism and chromatophore development in reptiles are linked to the tfec gene DOI Creative Commons
Alan García‐Elfring, Christina E. Sabin, Anna L. Iouchmanov

et al.

Current Biology, Journal Year: 2023, Volume and Issue: 33(4), P. 755 - 763.e3

Published: Jan. 25, 2023

Language: Английский

Citations

21