ArticleAmerican journal of human genetics2010
Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
Article in American journal of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 99 citations in OpenAlex.
- Bio-active designed peptide for hair keratin strengthening.International journal of cosmetic science · 2026Article
- Molecular characterization and functional insights of secondary hair follicles across the cashmere growth cycle.BMC genomics · 2026Article
- Comparative proteomic analysis of skin wound healing responses to biomaterial treatments identifies key pathways which govern differential regenerative outcomes.Biomaterials · 2026Article
- Polymorphism of Keratin GeneAnimals : an open access journal from MDPI · 2025Article
- Paediatric Hypotrichosis: A Clinical and Algorithmic Approach to Diagnosis.The Australasian journal of dermatology · 2025Review
- Article
- Screened of long non-coding RNA related to wool development and fineness in Gansu alpine fine-wool sheep.BMC genomics · 2025Article
- Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis.Frontiers in medicine · 2025Review
- Case Report: A novel KRT74 variant in an eight-year-old boy with alopecia totalis successfully treated with baricitinib.Frontiers in medicine · 2025Article
- Changing human hair fibre colour and shape from the follicle.Journal of advanced research · 2024Article
- Article
- Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep.Journal of advanced research · 2024Article
- Whole-Genome Scanning for Selection Signatures Reveals Candidate Genes Associated with Growth and Tail Length in Sheep.Animals : an open access journal from MDPI · 2024Article
- The history of Coast Salish "woolly dogs" revealed by ancient genomics and Indigenous Knowledge.Science (New York, N.Y.) · 2023Article
- Development of Woolly Hair and Hairlessness in a CRISPR-Engineered Mutant Mouse Model with KRT71 Mutations.Cells · 2023Article
- Article
- Altered hair root gene expression profiles highlight calcium signaling and lipid metabolism pathways to be associated with curly hair initiation and maintenance in Mangalitza pigs.Frontiers in genetics · 2023Article
- Identification of the Key Genes Associated with Different Hair Types in the Inner Mongolia Cashmere Goat.Animals : an open access journal from MDPI · 2022Article
- Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza.Scientific reports · 2020Article
- Molecular Modeling of Pathogenic Mutations in the Keratin 1B Domain.International journal of molecular sciences · 2020Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Autosomal-dominant woolly hair (ADWH) is a rare disorder characterized by tightly curled hair. The molecular basis of ADWH has not previously been reported. In this study, we identified a Pakistani family with ADWH. The family showed linkage to chromosome 12q12-q14.1, containing the type II keratin gene cluster. We discovered a heterozygous mutation, p.Asn148Lys, within the helix initiation motif of the keratin 74 (KRT74) gene in all affected family members. KRT74 encodes the inner root sheath (IRS)-specific epithelial (soft) keratin 74. We demonstrate that the mutant K74 protein results in disruption of keratin intermediate filament formation in cultured cells, most likely in a dominant-negative manner. Furthermore, we sequenced the mouse Krt71-74 genes in the dominant Caracul-like 4 (Cal4) allele, which is characterized by a wavy-coat phenotype and maps to the same region of mouse chromosome 15 as the Caracul (Ca) and Reduced coat (Rco) alleles. We identified a heterozygous mutation, p.Glu440Lys, not in Krt74 but in the neighboring gene, Krt71. Krt71 was previously reported to harbor Ca and Rco mutations, as well as a coding SNP that is associated with curly-coated dogs. In this study, we define the ADWH phenotype resulting from a mutation in a hair-follicle-specific epithelial keratin in humans. Our findings not only further underscore the crucial roles of the IRS-specific epithelial keratin genes Krt71-74 in hair disorders but also open the possibility that these genes might function as genetic determinants of normal variation in hair texture across mammalian species.
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