Disease Causing Homozygous Variants in the Human Hairless Gene

December 2015 in “ International Journal of Dermatology ”

Sabba Mehmood, Abid Jan, Syed M. Raza, Farooq Ahmad, Muhammad Younus, Irfan Ullah, Shamim Shahi, Muhammad Ayub, Saadullah Khan

hairless gene HR gene Atrichia with papular lesions APL homozygous variants pathogenic variants chromosome 8p21.3 mutation spectrum

Studysummary In this study, researchers identified a novel and two previously reported pathogenic mutations in the HR gene associated with atrichia with papular lesions in five Pakistani families. Our plain-language summary of this paper — not a Tressless recommendation.

The study focused on five consanguineous Pakistani families suffering from Atrichia with papular lesions (APL), which is caused by mutations in the hairless gene (HR) located on chromosome 8p21.3. Linkage analysis confirmed the HR gene's involvement in all families, and sequencing identified a new homozygous nonsense variant in one family, as well as two known pathogenic variants in the remaining families. The research concluded that these mutations add to the known mutation spectrum causing APL and highlighted the need for detailed clinical outcome characterization of these HR gene variants to improve clinical care for affected individuals. The exact number of participants was not provided, but at least two affected individuals from each family were studied.

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A Newly Identified Missense Mutation of the HR Gene Is Associated with a Novel, Unusual Phenotype of Marie Unna Hereditary Hypotrichosis 1 Including Limb Deformities

research A Newly Identified Missense Mutation of the HR Gene Is Associated with a Novel, Unusual Phenotype of Marie Unna Hereditary Hypotrichosis 1 Including Limb Deformities

6 citations , May 2012 in “Archives of Dermatological Research”

This study reports a novel missense mutation in the HR gene in a 68-year-old Hungarian woman with alopecia universalis and limb deformities, suggesting a need for further research on its role in these conditions.

research Hairless Plays a Role in Formation of Inner Root Sheath via Regulation of Dlx3 Gene

17 citations , March 2012 in “Journal of biological chemistry/The Journal of biological chemistry”

In this study, researchers found that overexpression of the hairless protein in Hr mutant mice disrupts inner root sheath formation by downregulating Dlx3 and associated keratins in hair follicle development.

research Congenital Atrichia With Papular Lesions Resulting From Novel Mutations in Human Hairless Gene in Four Consanguineous Families

11 citations , February 2011 in “The Journal of Dermatology”

This study observed four consanguineous families with congenital atrichia with papular lesions and identified three novel mutations in the hairless gene, which may contribute to the disorder.

research Marie Unna Hereditary Hypotrichosis Caused by a Novel Mutation in the Human Hairless Transcript

14 citations , July 2010 in “Experimental Dermatology”

A new mutation in the HR gene causes hair loss in a specific family.

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 Atrichia With Papular Lesions Resulting From a Novel Insertion Mutation in the Human Hairless Gene

19 citations , May 2006 in “Clinical and Experimental Dermatology”

This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.

research Atrichia With Papular Lesions in Two Pakistani Consanguineous Families Resulting From Mutations in the Human Hairless Gene

20 citations , October 2005 in “Archives of Dermatological Research”

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 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 A Novel Missense Mutation (C622G) in the Zinc-Finger Domain of the Human Hairless Gene Associated with Congenital Atrichia with Papular Lesions

47 citations , April 2000 in “Experimental Dermatology”

This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.

research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers

83 citations , October 1998 in “The American Journal of Human Genetics”

A specific gene mutation causes complete hair loss in an Irish Traveller family.

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.