Genetics of Structural Hair Disorders

November 2012 in “ Journal of Investigative Dermatology ”

Sivan Harel, Angela M. Christiano

TLDR The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.

The document from 2012 reviews the genetic underpinnings of structural hair disorders, identifying over 500 genes associated with skin and hair abnormalities. It details how specific mutations in keratin genes lead to conditions such as monilethrix and ectodermal dysplasia, while mutations in desmosomal proteins and lipid-related genes are linked to hypotrichosis and woolly hair syndromes. Mutations in the HR and APCDD1 genes cause atrichia and hereditary hypotrichosis simplex, respectively. The review also notes that gene positioning can affect hair growth, as seen with TRPS1 gene rearrangements causing hypertrichosis. Furthermore, it discusses the role of Trps1 in trichorhinophalangeal syndromes and how mutations near SOX9 or affecting SOX3 can lead to hypertrichosis. This genetic knowledge is crucial for developing new treatments for hair disorders and may also inform our understanding of related skin conditions. The authors report no conflicts of interest.

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Research cited in this study

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research Genetics of Structural Hair Disorders

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Genetics of Structural Hair Disorders

Research cited in this study

research Genetics of Structural Hair Disorders

research A Missense Mutation Within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis

research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm

research Trps1 Activates a Network of Secreted Wnt Inhibitors and Transcription Factors Crucial to Vibrissa Follicle Morphogenesis

research Keratin Disorders: From Gene to Therapy

research Biology and Genetics of Hair

research APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex

research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74, a Potential Determinant of Human Hair Texture

research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia

research Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

research A Position Effect on TRPS1 Is Associated with Ambras Syndrome in Humans and the Koala Phenotype in Mice

research Genome-Wide Scan and Fine-Mapping Linkage Study of Androgenetic Alopecia Reveals a Locus on Chromosome 3q26

research Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair

research Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata

research Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH

research K25 (K25irs1), K26 (K25irs2), K27 (K25irs3), And K28 (K25irs4) Represent The Type I Inner Root Sheath Keratins Of The Human Hair Follicle

research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions

research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis

research A Missense Mutation in the Type II Hair Keratin hHb3 Is Associated with Monilethrix

research Keratins of the Human Hair Follicle

research Phosphatidic Acid Has Potential to Promote Hair Growth In Vitro and In Vivo, and Activates Mitogen-Activated Protein Kinase/Extracellular Signal-Regulated Kinase Kinase in Hair Epithelial Cells

research Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless

research The Role of the Hairless (Hr) Gene in the Regulation of Hair Follicle Catagen Transformation

research Alopecia Universalis Associated With a Mutation in the Human Hairless Gene

research Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix

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