Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis

被引：44

作者：

DeStefano, Gina M. ^{[1
]}

Fantauzzo, Katherine A. ^{[1
,2
]}

Petukhova, Lynn ^{[2
,3
]}

Kurban, Mazen ^{[2
]}

Tadin-Strapps, Marija ^{[1
]}

Levy, Brynn ^{[4
]}

Warburton, Dorothy ^{[1
,5
]}

Cirulli, Elizabeth T. ^{[6
]}

Han, Yujun ^{[6
]}

Sun, Xiaoyun ^{[7
]}

Shen, Yufeng ^{[7
]}

Shirazi, Maryam ^{[4
]}

Jobanputra, Vaidehi ^{[4
]}

Cepeda-Valdes, Rodrigo ^{[8
]}

Cesar Salas-Alanis, Julio ^{[8
,9
]}

Christiano, Angela M. ^{[1
,2
]}

机构：

[1] Columbia Univ, Dept Genet & Dev, New York, NY 10027 USA

[2] Columbia Univ, Dept Dermatol, New York, NY 10027 USA

[3] Columbia Univ, Dept Epidemiol, New York, NY USA

[4] Columbia Univ, Dept Pathol & Cell Biol, New York, NY USA

[5] Columbia Univ, Med Ctr, Dept Pediat, New York, NY 10032 USA

[6] Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

[7] Columbia Univ, Columbia Initiat Syst Biol, Dept Biomed Informat, New York, NY 10032 USA

[8] Dystroph Epidermolysis Bullosa Res Assoc DebRA, Nuevo Leon 67150, Mexico

[9] Univ Monterrey, Nueva Leon 63238, Mexico

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 2013年 / 110卷 / 19期

基金：

美国国家卫生研究院;

关键词：

congenital hypertrichosis; excessive hair growth; HAIR-GROWTH; CHROMOSOME INACTIVATION; EXPRESSION; LONG; BREAKPOINTS; REGULATOR; UPSTREAM; ATAVISM; SOX9; GENE;

D O I：

10.1073/pnas.1216412110

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：

X-linked congenital generalized hypertrichosis (Online Mendelian Inheritance in Man 307150) is an extremely rare condition of hair overgrowth on different body sites. We previously reported linkage in a large Mexican family with X-linked congenital generalized hypertrichosis cosegregating with deafness and with dental and palate anomalies to Xq24-27. Using SNP oligonucleotide microarray analysis and whole-genome sequencing, we identified a 389-kb interchromosomal insertion at an extragenic palindrome site at Xq27.1 that completely cosegregates with the disease. Among the genes surrounding the insertion, we found that Fibroblast Growth Factor 13 (FGF13) mRNA levels were significantly reduced in affected individuals, and immunofluorescence staining revealed a striking decrease in FGF13 localization throughout the outer root sheath of affected hair follicles. Taken together, our findings suggest a role for FGF13 in hair follicle growth and in the hair cycle.

引用

页码：7790 / 7795

页数：6

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