Nature Communications (Aug 2020)

Disease-associated KIF3A variants alter gene methylation and expression impacting skin barrier and atopic dermatitis risk

  • Mariana L. Stevens,
  • Zhonghua Zhang,
  • Elisabet Johansson,
  • Samriddha Ray,
  • Amrita Jagpal,
  • Brandy P. Ruff,
  • Arjun Kothari,
  • Hua He,
  • Lisa J. Martin,
  • Hong Ji,
  • Kathryn Wikenheiser-Brokamp,
  • Matthew T. Weirauch,
  • Dorothy M. Supp,
  • Jocelyn M. Biagini Myers,
  • Gurjit K. Khurana Hershey

DOI
https://doi.org/10.1038/s41467-020-17895-x
Journal volume & issue
Vol. 11, no. 1
pp. 1 – 10

Abstract

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Genetic variants in KIF3A are associated with atopic dermatitis (AD). Here, the authors identify two AD-risk alleles that show high methylation resulting in lower KIF3A expression. Mice with epidermis-specific loss of Kif3a show disrupted skin barrier homeostasis and increased AD susceptibility.