Deimination and Peptidylarginine Deiminases in Skin Physiology and Diseases

January 2020 in “ International Journal of Molecular Sciences ”

Marie‐Claire Méchin, Hidenari Takahara, Michel Simon

deimination peptidylarginine deiminases PADs keratinocyte differentiation epidermal barrier hair follicles hair shaft uncombable hair syndrome inflammatory scarring alopecia skin homeostasis hair disorders skin diseases

Studysummary This review discusses the role of peptidylarginine deiminases in skin homeostasis and diseases, particularly in keratinocyte differentiation and hair disorders, but presents no new experimental findings. Our plain-language summary of this paper — not a Tressless recommendation.

The review discussed the role of deimination and peptidylarginine deiminases (PADs) in skin physiology and diseases, with a focus on hair disorders. It highlighted the involvement of PADs in keratinocyte differentiation, epidermal barrier function, and hair follicles. Altered PAD activity was linked to uncombable hair syndrome and inflammatory scarring alopecia, particularly affecting women of African ancestry. PAD1, PAD2, and PAD3 were the main isotypes detected, with PAD3 mutations associated with Uncombable Hair Syndrome and Central Centrifugal Cicatricial Alopecia. The study emphasized the genetic basis of these conditions and the role of the trichohyalin-PAD3-TGase 3 pathway in hair follicle physiology, suggesting potential therapeutic targets for skin and hair disorders.

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research Variant PADI3 in Central Centrifugal Cicatricial Alopecia

95 citations , February 2019 in “The New England Journal of Medicine”

This article discusses the potential genetic basis of central centrifugal cicatricial alopecia in women of African ancestry but does not provide new research results.

research Central Centrifugal Cicatricial Alopecia: New Insights and a Call for Action

27 citations , September 2017 in “Journal of Investigative Dermatology Symposium Proceedings”

This article discusses central centrifugal cicatricial alopecia, noting its prevalence in women of African descent and highlighting the need for further genetic research to improve treatment options; it reports no new clinical results.

research Arachidonate 12-Lipoxygenase Inhibitors Promote S100A3 Citrullination in Cultured SW480 Cells and Isolated Hair Follicles

4 citations , January 2017 in “Biological & pharmaceutical bulletin”

This study found that inhibiting arachidonate 12-lipoxygenase (ALOX12) may enhance hair cuticle maturation by increasing S100A3 protein citrullination and promoting cuticular differentiation in isolated human hair follicles.

research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

119 citations , November 2016 in “American journal of human genetics”

This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.

research Evaluation of the Predictive Capacity of DNA Variants Associated with Straight Hair in Europeans

36 citations , September 2015 in “Forensic Science International: Genetics”

This study found that specific DNA variants in the TCHH, WNT10A, and FRAS1 genes are associated with predicting straight hair in Europeans, showing high sensitivity but low specificity, especially using a neural networks approach.

research Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans

234 citations , November 2009 in “American journal of human genetics”

This study identified genetic variants in the Trichohyalin gene that account for approximately 6% of the variance in hair morphology among Australians of European descent.

research Distinguishing Mouse Strains by Proteomic Analysis of Pelage Hair

34 citations , March 2009 in “Journal of Investigative Dermatology”

Proteomic analysis can identify genetic differences in mouse hair, helping understand hair defects and variations.

research Peptidylarginine Deiminase Isoforms Are Differentially Expressed in Anagen Hair Follicles and Other Human Skin Appendages

71 citations , June 2005 in “Journal of Investigative Dermatology”

This study demonstrates that PAD1 and PAD3 are involved in hair follicle differentiation, while PAD1 and PAD2 may play a role in the physiology of sweat glands and arrector pili muscles.

research Trichohyalin Mechanically Strengthens the Hair Follicle

108 citations , October 2003 in “Journal of biological chemistry/The Journal of biological chemistry”

This study documents that trichohyalin acts as a multi-functional cross-bridging protein in the inner root sheath of mouse hair follicles, enhancing mechanical strength by linking keratin filaments to the cell envelope.