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Identifying critical cell types and gene regulatory pathways for hair and skin disease

Matched single-cell transcriptomic and epigenomic profiles obtained from human scalp reveal gene regulatory maps of diverse cell types in the hair follicle niche. Integrating these data with existing genome-wide association studies enabled prioritization of cell types, genes, and causal variants implicated in the pathobiology of androgenetic alopecia, eczema, and other complex traits.

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Fig. 1: Identification of critical cell types associated with human hair and skin disease.

References

  1. Gallagher, M. D. & Chen-Plotkin, A. S. The post-GWAS era: from association to function. Am. J. Hum. Genet. 102, 717–730 (2018). A review article highlighting challenges and strategies for interpreting GWAS results.

    Article  CAS  PubMed  Google Scholar 

  2. Reynolds, G. et al. Developmental cell programs are co-opted in inflammatory skin disease. Science 371, eaba6500 (2021). This paper presents a large single-cell transcriptomic dataset from embryonic and adult human skin in healthy and disease states.

    Article  CAS  PubMed  Google Scholar 

  3. Hughes, T. K. et al. Second-strand synthesis-based massively parallel scRNA-seq reveals cellular states and molecular features of human inflammatory skin pathologies. Immunity 53, 878–894 (2020). This paper provides a single-cell transcriptomic analysis of human skin in five inflammatory disease states.

    Article  CAS  PubMed  Google Scholar 

  4. Ma, S. et al. Chromatin potential identified by shared single-cell profiling of RNA and chromatin. Cell 183, 1103–1116 (2020). This paper introduces share-seq, a method for simultaneous characterization of the transcriptome and open chromatin landscape at single-cell resolution.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Finucane, H. K. et al. Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types. Nat. Genet. 50, 621–629 (2018). This paper introduces the use of LD score regression to identify relevant tissues and cell types from GWAS signals.

    Article  CAS  PubMed  Google Scholar 

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This is a summary of: Ober-Reynolds, B. et al. Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases. Nat. Genet. https://doi.org/10.1038/s41588-023-01445-4 (2023).

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Identifying critical cell types and gene regulatory pathways for hair and skin disease. Nat Genet 55, 1263–1264 (2023). https://doi.org/10.1038/s41588-023-01447-2

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