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

Autor: 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
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Zdroj: Nature Communications, Vol 11, Iss 1, Pp 1-10 (2020)
Druh dokumentu: article
ISSN: 2041-1723
DOI: 10.1038/s41467-020-17895-x
Popis: 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.
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