R-spondin1 is essential in sex determination, skin differentiation and malignancy

被引：465

作者：

Parma, Pietro

Radi, Orietta

Vidal, Valerie

Chaboissier, Marie Christine

Dellambra, Elena

Valentini, Stella

Guerra, Liliana

Schedl, Andreas

Camerino, Giovanna

机构：

[1] Univ Pavia, Dipartimento Patol Umana & Ereditaria, Sez Biol Gen & Genet Med, I-27100 Pavia, Italy

[2] Fac Sci, Ctr Biochim, INSERM, U636, F-06108 Nice, France

[3] IRCCS, Ist Dermopat Immacolata, Lab Ingn Tessuti & Fisiopatol Cutanea, I-00167 Rome, Italy

来源：

NATURE GENETICS | 2006年 / 38卷 / 11期

关键词：

SQUAMOUS-CELL CARCINOMA; PALMOPLANTAR KERATODERMA; HURIEZ-SYNDROME; R-SPONDIN; SOX9; MICE; ASSOCIATION; ACTIVATION; PROTEINS; REVERSAL;

D O I：

10.1038/ng1907

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

R-spondins are a recently characterized small family of growth factors. Here we show that human R-spondin1 (RSPO1) is the gene disrupted in a recessive syndrome characterized by XX sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin. Our data show, for the first time, that disruption of a single gene can lead to complete female-to-male sex reversal in the absence of the testis-determining gene, SRY.

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收藏

页码：1304 / 1309

页数：6

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