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Article

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

Nature genetics - 1 Nov 2006

Parma Pietro, Radi Orietta, Vidal Valerie, Chaboissier Marie Christine, Dellambra Elena, Valentini Stella, Guerra Liliana, Schedl Andreas, Camerino Giovanna

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

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Share to Carcinoma, Squamous Cell
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Keratoderma, Palmoplantar

Share to Mice, Inbred CBA

Share to Sex Determination Processes

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Source

Identifiers

PMID: 17041600
DOI: 10.1038/ng1907

Genes

RSPO1
SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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