Deimination In Epidermal Barrier And Hair Formation

October 2023 in “ Philosophical transactions - Royal Society. Biological sciences ”

Marie-Claire Méchin, Michel Simon

Studysummary This article reports that mutations in the PADI3 gene, affecting its activity or localization, cause uncombable hair syndrome and are linked to central centrifugal cicatricial alopecia, particularly among women of African ancestry.

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Peptidylarginine deiminases (PADs) are enzymes that convert protein arginine residues into citrulline, a process known as citrullination or deimination. In the epidermis, PAD1 and PAD3 are crucial for keratinocyte differentiation and the formation of the epidermal barrier, with their deregulation linked to skin diseases like psoriasis and atopic dermatitis. Additionally, the trichohyalin/PAD3/transglutaminase pathway is essential for hair shaft formation. Mutations in the PADI3 gene can lead to uncombable hair syndrome and are associated with central centrifugal cicatricial alopecia, a common form of hair loss in women of African ancestry.

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research Uncombable Hair Syndrome and Beyond

January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)”

This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.

research Deimination and Peptidylarginine Deiminases in Skin Physiology and Diseases

57 citations , January 2020 in “International Journal of Molecular Sciences”

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.

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 A Genome-Wide Association Scan in Admixed Latin Americans Identifies Loci Influencing Facial and Scalp Hair Features

196 citations , March 2016 in “Nature Communications”

In this study, researchers identified 18 genetic associations with scalp and facial hair traits in Latin Americans, including novel loci for hair greying and balding, with implications for understanding hair evolution.

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 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.

research The Fate of Trichohyalin

135 citations , October 1997 in “Journal of biological chemistry/The Journal of biological chemistry”

This study suggests that trichohyalin is modified by peptidyl-arginine deiminase before being cross-linked by TGase 3, allowing the formation of rigid structures in hair follicle cells.

research Trichohyalin: A Structural Protein of Hair, Tongue, Nail, and Epidermis

27 citations , July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology”