FGF5 is a crucial regulator of hair length in humans

Mechanisms that regulate the growth of eyelashes have remained obscure. We ascertained two families from Pakistan who presented with familial trichomegaly, or extreme eyelash growth. Using a combination of whole exome sequencing and homozygosity mapping, we identified distinct pathogenic mutations w...

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Bibliographic Details
Published in:Proceedings of the National Academy of Sciences - PNAS 2014-07, Vol.111 (29), p.10648-10653
Main Authors: Higgins, Claire A., Petukhova, Lynn, Harel, Sivan, Ho, Yuan Y., Drill, Esther, Shapiro, Lawrence, Wajid, Muhammad, Christiano, Angela M.
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Biological Sciences
Exons
Exons - genetics
Eyelashes
Families & family life
Family members
Female
Fibroblast Growth Factor 5 - chemistry
Fibroblast Growth Factor 5 - genetics
Fibroblast Growth Factor 5 - metabolism
Fibroblast growth factors
Follicles
Genetic mutation
Genomics
Hair
Hair - anatomy & histology
Hair - growth & development
Hair Follicle - metabolism
Hair follicles
Homozygote
Humans
Knowledge
Male
Molecular Sequence Data
Mutation
Mutation, Missense - genetics
Pedigree
Phenotype
Phenotypes
Protein Transport
Sequence Analysis, DNA
Sequencing
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Summary:Mechanisms that regulate the growth of eyelashes have remained obscure. We ascertained two families from Pakistan who presented with familial trichomegaly, or extreme eyelash growth. Using a combination of whole exome sequencing and homozygosity mapping, we identified distinct pathogenic mutations within fibroblast growth factor 5 (FGF5) that underlie the disorder. Subsequent sequencing of this gene in several additional trichomegaly families identified an additional mutation in FGF5 . We further demonstrated that hair fibers from forearms of these patients were significantly longer than hairs from control individuals, with an increased proportion in the growth phase, anagen. Using hair follicle organ cultures, we show that FGF5 induces regression of the human hair follicle. We have identified FGF5 as a crucial regulator of hair growth in humans for the first time, to our knowledge, and uncovered a therapeutic target to selectively regulate eyelash growth.
ISSN:0027-8424
1091-6490
DOI:10.1073/pnas.1402862111