Mammalian-Specific Ectodermal Enhancers Control the Expression of Hoxc Genes in Developing Nails and Hair Follicles

November 2020 in “ Proceedings of the National Academy of Sciences ”

Marc Fernández‐Guerrero, Nayuta Yakushiji‐Kaminatsui, Lucille Lopez‐Delisle, Sofía Zdral, Fabrice Darbellay, Rocío Pérez‐Gómez, Christopher Chase Bolt, Manuel Sánchez‐Martín, Denis Duboule, María A. Ros

Hoxc genes Hoxc13 HoxC gene cluster ectodermal enhancers hair follicles nail development congenital anonychia

Studysummary This study found that the HoxC gene cluster plays a critical role in the development of ectodermal organs, including hair and nails, with mammalian-specific enhancers increasing transcription levels during development.

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Research cited in this study

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research The Disrupted Balance Between Hair Follicles and Sebaceous Glands in Hoxc13-Ablated Rabbits

18 citations , August 2018 in “The FASEB journal”

This study found that Hoxc13-/- rabbits exhibit complete hair loss on the head and dorsum, providing a potential model for understanding human ECTD-9 and related dermatological conditions.

research Hoxc-Dependent Mesenchymal Niche Heterogeneity Drives Regional Hair Follicle Regeneration

43 citations , August 2018 in “Cell Stem Cell”

This study found that Hoxc gene expression can reprogram mesenchymal dermal papilla cells, enhance epithelial stem cell regenerative potential, and promote region-specific hair follicle regeneration through Wnt signaling.

research Early Inductive Events in Ectodermal Appendage Morphogenesis

160 citations , January 2014 in “Seminars in cell & developmental biology”

This review discusses the shared molecular and cellular processes in the early development stages of skin appendages like hair follicles, teeth, and mammary glands, reporting no new results.

research A Homozygous Frameshift Mutation in the HOXC13 Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family

30 citations , January 2013 in “Human Mutation”

This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.

research Loss-Of-Function Mutations In HOXC13 Cause Pure Hair And Nail Ectodermal Dysplasia

74 citations , October 2012 in “The American Journal of Human Genetics”

This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.

research The Nude Mutant Gene Foxn1 Is a HOXC13 Regulatory Target During Hair Follicle and Nail Differentiation

68 citations , December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study suggests a regulatory model where HOXC13 activates Foxn1, affecting hair and nail differentiation, supported by similarities in Hoxc13(tm1Mrc) and Foxn1(nu) mice phenotypes and gene expression patterns.

research FOXN1 Is Critical for Onycholemmal Terminal Differentiation in Nude (Foxn1nu) Mice

58 citations , November 2004 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study found that mutations in the Foxn1 gene in nude mice affect not only hair but also nail structure and differentiation, offering insights into nail hypergranulosis pathogenesis relevant to human nail diseases.

research Hox in Hair Growth and Development

98 citations , April 2003 in “Die Naturwissenschaften”

research HOXC13 Is Involved in the Regulation of Human Hair Keratin Gene Expression

132 citations , February 2002 in “Journal of Biological Chemistry”

This study demonstrated that HOXC13 directly influences hair keratin gene expression by binding to specific DNA motifs, suggesting its role in early hair follicle differentiation.

research Hoxc13 Mutant Mice Lack External Hair

245 citations , January 1998 in “Genes & Development”

This study found that Hoxc13 mutations in mice cause defects in hair, nail, and tongue structures, with the most noticeable issue being brittle hair leading to alopecia.