R-spondin1 is essential in sex determination, skin differentiation and malignancy - PubMed (original) (raw)

. 2006 Nov;38(11):1304-9.

doi: 10.1038/ng1907. Epub 2006 Oct 15.

Affiliations

• PMID: 17041600
• DOI: 10.1038/ng1907

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

Pietro Parma et al. Nat Genet. 2006 Nov.

Abstract

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.

PubMed Disclaimer

Comment in

• R-spondin1 tips the balance in sex determination.
  Capel B. Capel B. Nat Genet. 2006 Nov;38(11):1233-4. doi: 10.1038/ng1106-1233. Nat Genet. 2006. PMID: 17072299 No abstract available.

Similar articles

• XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: genetic analysis in one family.
  Radi O, Parma P, Imbeaud S, Nasca MR, Uccellatore F, Maraschio P, Tiepolo L, Micali G, Camerino G. Radi O, et al. Am J Med Genet A. 2005 Oct 15;138A(3):241-6. doi: 10.1002/ajmg.a.30935. Am J Med Genet A. 2005. PMID: 16158431
• Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.
  Tallapaka K, Venugopal V, Dalal A, Aggarwal S. Tallapaka K, et al. Am J Med Genet A. 2018 Apr;176(4):1006-1010. doi: 10.1002/ajmg.a.38646. Am J Med Genet A. 2018. PMID: 29575617 Review.
• RSPO1-mutated fibroblasts from non-tumoural areas of palmoplantar keratoderma display a cancer-associated phenotype.
  Dellambra E, Cordisco S, Proto V, Nicodemi EM, Didona B, Cesario C, Pisaneschi E, Valente C, Teson M, Castiglia D, Guerra L. Dellambra E, et al. Eur J Dermatol. 2021 Jun 1;31(3):342-350. doi: 10.1684/ejd.2021.4066. Eur J Dermatol. 2021. PMID: 34309520
• RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell-cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development.
  Dellambra E, Cordisco S, Delle Monache F, Bondanza S, Teson M, Nicodemi EM, Didona B, Condorelli AG, Camerino G, Castiglia D, Guerra L. Dellambra E, et al. Orphanet J Rare Dis. 2022 Jul 19;17(1):275. doi: 10.1186/s13023-022-02434-2. Orphanet J Rare Dis. 2022. PMID: 35854363 Free PMC article.
• R-spondin1, WNT4, and the CTNNB1 signaling pathway: strict control over ovarian differentiation.
  Chassot AA, Gillot I, Chaboissier MC. Chassot AA, et al. Reproduction. 2014 Dec;148(6):R97-110. doi: 10.1530/REP-14-0177. Epub 2014 Sep 3. Reproduction. 2014. PMID: 25187620 Review.

Cited by

• Inhibition of WNT/β-catenin signalling during sex-specific gonadal differentiation is essential for normal human fetal testis development.
  Lundgaard Riis M, Delpouve G, Nielsen JE, Melau C, Langhoff Thuesen L, Juul Hare K, Dreisler E, Aaboe K, Tutein Brenøe P, Albrethsen J, Frederiksen H, Juul A, Giacobini P, Jørgensen A. Lundgaard Riis M, et al. Cell Commun Signal. 2024 Jun 15;22(1):330. doi: 10.1186/s12964-024-01704-9. Cell Commun Signal. 2024. PMID: 38879537 Free PMC article.
• 46,XX Differences of Sex Development outside congenital adrenal hyperplasia: pathogenesis, clinical aspects, puberty, sex hormone replacement therapy and fertility outcomes.
  Stancampiano MR, Meroni SLC, Bucolo C, Russo G. Stancampiano MR, et al. Front Endocrinol (Lausanne). 2024 May 22;15:1402579. doi: 10.3389/fendo.2024.1402579. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38841305 Free PMC article. Review.
• Diagnosis and management of non-CAH 46,XX disorders/differences in sex development.
  Yavas Abalı Z, Guran T. Yavas Abalı Z, et al. Front Endocrinol (Lausanne). 2024 May 15;15:1354759. doi: 10.3389/fendo.2024.1354759. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38812815 Free PMC article. Review.
• Conserved genes regulating human sex differentiation, gametogenesis and fertilization.
  Fakhro KA, Awwad J, Garibova S, Saraiva LR, Avella M. Fakhro KA, et al. J Transl Med. 2024 May 19;22(1):473. doi: 10.1186/s12967-024-05162-2. J Transl Med. 2024. PMID: 38764035 Free PMC article. Review.
• Roles of estrogen receptors during sexual reversal in Pelodiscus sinensis.
  Chen G, Zhou T, Cao J, Li X, Zhu C, Wang L, Zou G, Liang H. Chen G, et al. Mol Biol Rep. 2024 May 10;51(1):634. doi: 10.1007/s11033-024-09482-w. Mol Biol Rep. 2024. PMID: 38727746

Publication types

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • Nature Publishing Group

• Other Literature Sources

  • H1 Connect
  • The Lens - Patent Citations Database

• Medical

  • MedlinePlus Health Information

• Molecular Biology Databases

  • GlyGen glycoinformatics resource
  • Mouse Genome Informatics (MGI)