Genetic Mapping of Hereditary Ectodermal Dysplasias and Hair Loss Genes

January 2011

Naveed Wasif

hereditary ectodermal dysplasias hair loss genes EDAR gene hypohidrotic ectodermal dysplasia STS gene X-linked recessive ichthyosis RSPO4 gene anonychia congenita KRT74 DSG4 LIPH LPAR6

Studysummary This study identified several genetic mutations linked to hereditary skin and hair disorders in consanguineous families from remote areas of Pakistan, enhancing understanding of the molecular basis of these conditions.

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Research cited in this study

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research Novel Mutations in the Keratin-74 (KRT74) Gene Underlie Autosomal Dominant Woolly Hair/Hypotrichosis in Pakistani Families

40 citations , December 2010 in “Human Genetics”

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

199 citations , April 2010 in “Nature”

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

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

97 citations , March 2010 in “The American Journal of Human Genetics”

A mutation in the KRT74 gene causes tightly curled hair.

research A Missense Mutation in the P2RY5 Gene Leading to Autosomal Recessive Woolly Hair in a Syrian Patient

13 citations , November 2009 in “Journal of Dermatological Science”

This article discusses various dermatological studies cited by previous authors and reports no new clinical results.

research Desmoglein 4 Is Regulated by Transcription Factors Implicated in Hair Shaft Differentiation

35 citations , August 2009 in “Differentiation”

This study found that transcription factors HOXC13, LEF1, and FOXN1 repress DSG4 transcription, with the Notch pathway possibly involved in maintaining DSG4 expression in hair follicles.

research Identification and Characterization of a Novel Lysophosphatidic Acid Receptor, P2Y5/LPA6

253 citations , April 2009 in “Journal of Biological Chemistry”

This study found that p2y5 functions as a novel LPA receptor involved in the G13-Rho signaling pathway, with implications for human hair growth, and proposes renaming it to LPA6.

research The Molecular Basis of Human Keratin Disorders

79 citations , February 2009 in “Human Genetics”

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

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

181 citations , January 2009 in “Nature Genetics”

In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.

research Hairless Is a Nuclear Receptor Corepressor Essential for Skin Function

30 citations , January 2009 in “Nuclear Receptor Signaling”

This study identified the Hairless (Hr) gene-encoded protein as a corepressor that plays a crucial role in maintaining skin and hair by regulating epithelial stem cell differentiation and gene expression via chromatin remodeling, which may impact both development and disease.

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

62 citations , March 2008 in “American Journal of Human Genetics”

This study located a potential genetic link for androgenetic alopecia on chromosome 3q26, marking an early step in identifying new susceptibility genes for male pattern baldness.

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

210 citations , February 2008 in “Nature genetics”

This study found mutations in the P2RY5 gene that are linked to autosomal recessive woolly hair in Pakistani families, implicating it in hair texture determination.

research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability Within a Pakistani Family

25 citations , March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology”

The researchers identified a specific mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis, which presents with variable hair loss severity in affected individuals from a large Pakistani family.

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

143 citations , January 2007 in “The American Journal of Human Genetics”

This study identified four genetic loci on chromosomes 6, 10, 16, and 18 that may contribute to susceptibility for alopecia areata and suggested shared genetic factors with psoriasis.

research Bone Morphogenetic Protein Signaling Regulates the Size of Hair Follicles and Modulates the Expression of Cell Cycle-Associated Genes

92 citations , November 2006 in “Proceedings of the National Academy of Sciences of the United States of America”

This study found that transgenic mice overexpressing the BMP antagonist noggin showed increased hair follicle size and altered hair type, linked to changes in cell proliferation and gene expression.

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

194 citations , November 2006 in “Science”

This study identified a gene mutation in the LIPH gene associated with inherited hair loss and hair growth defects in certain populations, suggesting lipase H plays a role in hair development.

research Hairless and Wnt Signaling: Allies in Epithelial Stem Cell Differentiation

74 citations , September 2006 in “Cell Cycle”

This review examines the role of Hairless, a nuclear receptor corepressor, in regulating Wnt signaling during hair cycling and reports no new clinical results.

research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis

97 citations , March 2006 in “Journal of Investigative Dermatology”

This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.

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

81 citations , March 2006 in “Journal of Investigative Dermatology”

Mutations in the DSG4 gene cause specific hair and scalp issues.

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

74 citations , January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.

research A Missense Mutation in the Cadherin Interaction Site of the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis

33 citations , October 2005 in “Journal of Investigative Dermatology”

A specific gene mutation causes sparse, brittle hair in a family.

research Hairless Triggers Reactivation of Hair Growth by Promoting Wnt Signaling

137 citations , September 2005 in “Proceedings of the National Academy of Sciences of the United States of America”

In this study, researchers found that transgenic expression of the Hairless gene in keratinocytes can restore hair follicle regeneration in Hr-deficient mice by repressing Wise, a modulator of Wnt signaling.

research Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia

195 citations , June 2005 in “American Journal of Human Genetics”

Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.

research Steroid Sulfatase: Molecular Biology, Regulation, and Inhibition

451 citations , March 2005 in “Endocrine Reviews”

This paper discusses the role of steroid sulfatase in hormone-dependent tumors and highlights the development of potent inhibitors, noting the commencement of a phase I trial for one inhibitor in postmenopausal breast cancer patients.

research Ligand-Independent Actions of the Vitamin D Receptor Maintain Hair Follicle Homeostasis

144 citations , December 2004 in “Molecular Endocrinology”

This study found that the effects of the vitamin D receptor on hair follicle cycling in mice are independent of its ability to bind a hormone, with specific domain mutations influencing hair regrowth outcomes.

research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis

44 citations , August 2004 in “Journal of Investigative Dermatology”

A gene deletion in DSG4 causes sparse hair in some Pakistani families.

research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy

52 citations , November 2003 in “Journal of Investigative Dermatology”

In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.

research Physical And Functional Interaction Between The Vitamin D Receptor And Hairless Corepressor, Two Proteins Required For Hair Cycling

215 citations , September 2003 in “Journal of Biological Chemistry”

This study found that the hairless gene product (Hr) suppresses VDR-mediated gene activation by directly interacting with the vitamin D receptor, potentially affecting hair follicle function.

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 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

46 citations , August 2003 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study found that phosphatidic acid promotes hair growth by stimulating cell proliferation and protecting against apoptosis in murine hair epithelial cells, unlike lysophosphatidic acid, which showed limited effects.

research Ichthyosis

147 citations , January 2003 in “American journal of clinical dermatology”

This review discusses various forms of ichthyosis, including genetic and acquired types, detailing their characteristics, causes, and potential management strategies, but reports no new clinical results.

research Molecular Mechanisms Regulating Hair Follicle Development

854 citations , February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology”

This review summarizes recent advances in understanding the molecular mechanisms of hair follicle formation and discusses potential future clinical applications for treating hair loss and skin tumors, but it reports no new clinical results.

research The Hairless Gene Mutated in Congenital Hair Loss Disorders Encodes a Novel Nuclear Receptor Corepressor

178 citations , October 2001 in “Genes & Development”

This study found that the mammalian hairless gene encodes a corepressor protein that interacts with thyroid hormone receptors, providing insights into hair loss syndromes in humans and mice.

research Multiple Roles for Activated LEF/TCF Transcription Complexes During Hair Follicle Development and Differentiation

990 citations , October 1999 in “Development”

This study found that LEF1/TCF3 is necessary but not sufficient for TOPGAL activation in hair follicle development, indicating complex regulation in the skin.

research Splitting Hairs: Molecular Mechanisms of Hair and Feather Development

158 citations , November 1998 in “Cell”

β-catenin affects hair growth and can lead to tumors, needing more research for better understanding.

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

412 citations , January 1998 in “Science”

This study identified a missense mutation in the human hairless gene associated with a rare form of recessively inherited alopecia universalis, pinpointed on chromosome 8p12.