期刊
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
卷 111, 期 29, 页码 10648-10653出版社
NATL ACAD SCIENCES
DOI: 10.1073/pnas.1402862111
关键词
hair cycling; catagen; next-generation sequencing; consanguineous families
资金
- US Public Health Service/National Institutes of Health from the National Institute of Arthritis and Musculoskeletal and Skin Diseases [RO1AR44924]
- Dermatology Foundation Science of Human Appearance Career Development awards
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.
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