An Unusual Ala12Thr Polymorphism in the 1A α-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae

Winter, Hermelita; Schissel, Daniel J.; Parry, David; Smith, Thomasin A.; Liović, Mirjana; Lane, E. Birgitte; Edler, Lutz; Langbein, Lutz; Jave-Suárez, Luis F; Rogers, Michael A.; Wilde, Joseph L.; Peters, Gerald E.; Schweizer, Jürgen

doi:10.1111/j.0022-202x.2004.22309.x

Cited by 85 publications

(53 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…This was further corroborated by transmission electron microscopy analysis ( Figure 2D). These results suggest that epithelial hair keratins stabilize enamel tufts and rod sheaths to support enamel rods during their formation, which is similar to their function in supporting the hair shaft (23,28,29). The functional role of KRT75 in teeth was further supported by a mouse model (Krt75 tm1Der ) carrying a Krt75 mutation leading to hair defects (30) as well as defects in the assembly of enamel rods (Supplemental Figure 2, B-E).…”

Section: E337kmentioning

confidence: 75%

“…Interestingly, we observed significant differences in inner enamel hardness between participants of mixed European descent and AfricanAmericans for all 3 genotypes considered (Supplemental Figure 3), and KRT75 genotype and race together accounted for 71% of variation in the inner enamel hardness (Supplemental Table 4). However, in contrast to pseudofolliculitis barbae (23), the clinical outcome of the rs2232387 polymorphism in terms of enamel defects and susceptibility to caries does not depend on race. GA or KRT75 AA genotype are tubular projections of the fissures that run throughout the enamel.…”

Section: E337kmentioning

confidence: 81%

“…Hair keratin mutations in tooth enamel increase dental decay risk hair in the facial area upon shaving, is associated with a polymorphism (rs2232387) in the KRT75 gene and more prevalent in AfricanAmericans due to the curly nature of their hair (23). This G-to-A missense mutation (KRT75 GA or KRT75 AA genotypes) leads to an alanine-to-threonine substitution at position 161 (A161T) in a highly conserved region of the 1A α-helical segment of KRT75 ( Figure 1E).…”

Section: E337kmentioning

confidence: 99%

See 2 more Smart Citations

Hair keratin mutations in tooth enamel increase dental decay risk

Duverger¹,

O’Hara²,

Shaffer³

et al. 2014

J. Clin. Invest.

View full text Add to dashboard Cite

B r i e f r e p o r t5hair in the facial area upon shaving, is associated with a polymorphism (rs2232387) in the KRT75 gene and more prevalent in AfricanAmericans due to the curly nature of their hair (23). This G-to-A missense mutation (KRT75 GA or KRT75 AA genotypes) leads to an alanine-to-threonine substitution at position 161 (A161T) in a highly conserved region of the 1A α-helical segment of KRT75 ( Figure 1E). To determine whether the KRT75 A161T mutation had clinical impact on enamel function, we tested the genetic association between the KRT75 polymorphism (rs2232387) and tooth decay assessed as dental caries experience in the primary dentition of 386 children (mixed European descent, 6-12 years) and permanent dentition of 706 adults (mixed European descent, 25-50 years). The missense A allele of rs2232387, which was observed in 23% of the samples, was associated with a higher number of carious tooth surfaces in adults but not children ( Figure 1F and Supplemental Table 1).We investigated the expression pattern of KRT75 in mouse enamel organ and in mature human enamel. KRT75 was expressed by mouse ameloblasts at the secretory stage (Supplemental Figure 2A) and detected in the tufts and rod sheaths of mature human enamel ( Figure 1, B and C). Interestingly, until enamel matrix proteins were identified, enamel was thought to be a keratinized structure, like hair and nail, with an extreme degree of mineralization (18,19). Here, we show that a subset of hair keratins is expressed by ameloblasts, and we demonstrate that KRT75 is incorporated into the tufts and rod sheaths in mature enamel. Since keratins are not secreted proteins, their deposition in enamel may be related to the retention of cell fragments at the periphery of the rods (20).Mutations in hair keratins have been reported in various human pathological conditions (21, 22). Among them, pseudofolliculitis barbae, a hair disorder characterized by the formation of ingrown (F) Genetic association between the rs2232387 polymorphism and caries experience in primary and permanent dentition. Pie charts show allelic distribution of the rs2232387 polymorphism measured on 706 adults and 386 children. Graphs show measure of caries experience for each genotype: left, number of tooth surfaces with untreated decay (DS and ds); center, number of decayed, missing due to decay, and filled surfaces (DMFS and dfs); right, partial DMFS and dfs indices limited to the molars and premolars pit and fissure (PF and pf) surfaces. etched tooth samples sectioned in the plane transecting the enamel rods revealed that the distribution and characteristic keyhole shape of the rods were altered in individuals carrying the variant A allele (Figure 2A). Tufts and rod sheaths isolated from patients with the KRT75 GA or KRT75 AA genotype appeared disorganized ( Figure 2B), and the distribution pattern of KRT75 was highly disrupted ( Figure 2C). This was further corroborated by transmission electron microscopy analysis ( Figure 2D). These results suggest that epithelial hair keratins s...

show abstract

Section: E337kmentioning

confidence: 75%

Section: E337kmentioning

confidence: 81%

Section: E337kmentioning

confidence: 99%

See 1 more Smart Citation

Hair keratin mutations in tooth enamel increase dental decay risk

Duverger¹,

O’Hara²,

Shaffer³

et al. 2014

J. Clin. Invest.

View full text Add to dashboard Cite

show abstract

“…L'un est associé à la pseudofolliculite de la barbe (pseudo folliculitis barbae), dans laquelle les extrémités de poils rasés de près ont tendance à se recourber et à pénétrer dans la peau, entraînant la formation de papules folliculaires inflammatoires non microbiennes [6]. Cette condition est plus fré-quente chez les mâles de race noire, en raison de la nature courbe de leurs poils.…”

Section: Mutations Dans Les Kératines Du Poil Et Risque De Cariesunclassified

Des kératines du cheveu dans l’émail dentaire

Duverger

2015

Med Sci (Paris)

View full text Add to dashboard Cite

“…Pseudofolliculitis barbae, a common human hair disorder, showing a chronic, irritating, and potentially disfiguring condition that develops as a result of attempts to eliminate hair from the beard area, usually by shaving [56]. The disease is, however, not gender-specific, nor restricted to the face, but can occur in any hairy skin region upon regular shaving or other means of hair removal [57].…”

Section: Pseudofolliculitis Barbae (Pfb)mentioning

confidence: 99%

Mutations with Hair Shape Phenotypes Abnormalities—The Morphogenetic Waves and Related Diseases

Wang¹,

Wang²,

Zhang³

2013

JCDSA

View full text Add to dashboard Cite

Hair morphology is one of the most conspicuous features of human variation. The hair follicle has attracted significant attention as a model for the investigation of diverse biological problems. Whereas, very little is known about the genes influencing the morphology and structure of the hair shaft. Curly hair is very common character of hair phenotypes of human, while most congenital curl occurs owing to genetic factors and some are closely related with genetic diseases. This review highlights current related genes reported affecting hair curliness and human diseases which are due to gene mutations.

show abstract

An Unusual Ala12Thr Polymorphism in the 1A α-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae

Cited by 85 publications

References 29 publications

Hair keratin mutations in tooth enamel increase dental decay risk

Hair keratin mutations in tooth enamel increase dental decay risk

Des kératines du cheveu dans l’émail dentaire

Mutations with Hair Shape Phenotypes Abnormalities—The Morphogenetic Waves and Related Diseases

Contact Info

Product

Resources

About