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A direct link between Prss53, hair curvature, and skeletal dysplasia

ABSTRACT: A direct link between Prss53, hair curvature, and skeletal dysplasia

PROVIDER: PRJNA593251 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR10582337_1.fastq.gz	Fastqsanger.gz
	SRR10582337_2.fastq.gz	Fastqsanger.gz
	SRR10582338_1.fastq.gz	Fastqsanger.gz
	SRR10582338_2.fastq.gz	Fastqsanger.gz
	SRR10582339_1.fastq.gz	Fastqsanger.gz

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A direct link between Prss53, hair curvature, and skeletal dysplasia

Project description:PRSS53, a member of the membrane-anchored serine proteases, hydrolyzes peptide bonds and is highly expressed in the hair follicle IRS, medulla, precortex and some melanocytes1. Previous studies reported that Prss53 is a psoriasis susceptibility locus and is linked to systemic lupus erythematosus, suggesting its potential roles in skin function2. The Q30R SNP in Prss53 may influence hair shape and is involved in the human variation of head hair shape among different continental groups1. In addition, ENaC activity is regulated by the activity of a channel-activating protease of Prss8 (a homologous gene of Prss53), implying the Prss53 may have an indispensable role in ion channel activity3.The triggering of hair curvature is clearly related to symmetry or asymmetry axis formation in follicles and includes Wnt, TGFβ, BMP, Shh and FGFs, etc. In particular, the Wnt/Ca2+ and Wnt/planar cell polarity (PCP) pathways are additional novel mechanisms that affect hair shape4. Furthermore, disruptions in calcium metabolism may contribute to a wide variety of clinical symptoms, including osteoporosis, osteolysis, nephrocalcinosis and adynamie5.Here, we successfully generated Prss53-deficient rabbits. These rabbits exhibited curved hair, severe skeletal malformation and disrupted calcium metabolism. Altogether, these data suggest that Prss53 play an important role in calcium metabolism and provide the first direct evidence that Prss53 functions in hair curvature shape and skeletal dysplasia.

2019-12-04 | GSE141384 | GEO

Single-Cell Transcriptomics Reveals the Differentiation and Spatial Signatures underlying Sheep Hair Follicle Heterogeneity and Wool Curvature

Project description:Here, Single-cell suspensions from the wavy wool and straight wool lambskins were prepared for unbiased single-cell RNA sequencing (scRNA-seq). Based on UAMP analysis, we identified 19 distinct populations from 15,830 single-cell transcriptomes and delineated their cellular identity from specific gene expression profiles. Furtherly, novel marker gene was applied in identifying dermal papilla cells isolated in vitro. By using pseudotime ordering analysis, we successfully constructed the epithelium cell lineage differentiation trajectory and revealed the dynamic gene expression profiles of matrix progenitors’ commitment to the hair shaft and inner root sheath (IRS) cells. Meanwhile, intercellular communication between different cell populations was inferred based on CellChat and the priori knowledge of ligand-receptor pairs, as a result strong intercellular communication and associated signaling pathways were revealed. Besides, to clarify the molecular mechanism of wool curvature, differentially expressed genes in specific cells between straight wool and curly wool were identified and analyzed. Our findings here provide unbiased and systematic view of transcriptional organization of sheep hair follicle, reveal the differentiation and spatial signatures underlying sheep hair follicle heterogeneity and wool curvature, which will provide a valuable resource for understanding the molecular pathways involved in sheep hair follicle development.

2022-01-12 | GSE186204 | GEO

CINCINNATA Controls Surface Curvature of Antirrhinum Leaf by Coordinated and Direct Activation of Cytokinin and Auxin Signaling

Project description:Mutations in the CINCINNATA gene in Antirrhinum and its orthologues in Arabidopsis cause negative surface curvature in leaves due to excess marginal growth. CIN-like genes code for TCP transcription factors and are expressed in a broad zone of a growing leaf somewhat distal to the proliferation zone. Although a few TCP targets are known, the role of CIN-like TCP genes in regulating leaf curvature has remained unclear. We have compared the global transcription profile of wild type and cincinnata mutant to identify its targets. By combining DNA-protein interaction, chromatin immunoprecipitation and RNA in situ hybridization, we show that CIN maintains surface flatness by regulating signaling or level of major plant hormones. CIN promotes cytokinin signaling directly and GA level indirectly, in accelerating maturity in leaf cells along the tip-to-base direction. In addition, CIN suppresses auxin signaling more at the margin than centre by establishing a margin-to-medial expression gradient of a homologue of the auxin suppressor IAA3. Our results uncover an underlying mechanism in a developing leaf that controls maturity of leaf and its surface curvature. Considering the conservation of CIN-like genes and their function in leaf morphogenesis in multiple plant species, it is likely that such mechanism is evolutionarily conserved. Two color Experiment, Organism: Arabidopsis thaliana and Antirrhinum. Arrays Used: 1. Agilent Arabidopsis thaliana Gene expression Microarray 22k (AMADID: 013324) 2. Agilent Custom Arabidopsis thaliana 4x44k Gene Expression (AMADID: 015226) 3. Agilent custom Antirrhinum 4x44k Gene expression (AMADID: 016341) designed by Genotypic Technology Private Limited.

2013-05-01 | E-GEOD-40621 | biostudies-arrayexpress

CINCINNATA Controls Surface Curvature of Antirrhinum Leaf by Coordinated and Direct Activation of Cytokinin and Auxin Signaling

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Project description:Melanocyte stem cells (McSCs) and mouse models of hair graying serve as useful systems to uncover mechanisms involved in stem cell self-renewal and the maintenance of regenerating tissues. Interested in assessing genetic variants that influence McSC maintenance, we found previously that heterozygosity for the melanogenesis associated transcription factor, Mitf, exacerbates McSC differentiation and hair graying in mice that are predisposed for this phenotype. Based on transcriptome and molecular analyses of Mitfmi-vga9/+ mice, we report a novel role for MITF in the regulation of systemic innate immune gene expression. We also demonstrate that the viral mimic poly(I:C) is sufficient to expose genetic susceptibility to hair graying. These observations point to a critical suppressor of innate immunity, the consequences of innate immune dysregulation on pigmentation, both of which may have implications in the autoimmune, depigmenting disease, vitiligo.

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Less invasive diagnostics for cancer using hair follicle

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Skeletal dysplasia-causing TRPV4 mutations suppress the hypertrophic differentiation of human iPSC-derived chondrocytes

Project description:To elucidate how TRPV4 mutations cause skeletal dysplasia, we used CRISPR-Cas9-edited hiPSCs harboring the moderate V620I and lethal T89I mutations to differentiate chondrocytes and hypertrophic chondrocytes. We then used mRNA sequencing to analyze differential gene expression between 3 cell lines, 2 time points, and 2 treatments.

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