FGF5 is a crucial regulator of hair length in humans

被引:135
作者
Higgins, Claire A. [1 ]
Petukhova, Lynn [1 ,2 ]
Harel, Sivan [1 ]
Ho, Yuan Y. [1 ]
Drill, Esther [1 ]
Shapiro, Lawrence [3 ]
Wajid, Muhammad [1 ,5 ]
Christiano, Angela M. [1 ,4 ]
机构
[1] Columbia Univ, Dept Dermatol, New York, NY 10032 USA
[2] Columbia Univ, Dept Epidemiol, New York, NY 10032 USA
[3] Columbia Univ, Dept Biochem & Mol Biophys, New York, NY 10032 USA
[4] Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA
[5] Univ Educ, Lahore, Pakistan
基金
美国国家卫生研究院;
关键词
hair cycling; catagen; next-generation sequencing; consanguineous families; GENOME-WIDE ASSOCIATION; GROWTH-CYCLE; SEVERE HYPERTENSION; GENETIC-VARIANTS; SEQUENCING DATA; BLOOD-PRESSURE; MUTATIONS; ACTIVATION; PROTEIN; BIMATOPROST;
D O I
10.1073/pnas.1402862111
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
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.
引用
收藏
页码:10648 / 10653
页数:6
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