RGD Reference Report - Wnt signalling in testicular descent: a candidate mechanism for cryptorchidism in Robinow syndrome. - Rat Genome Database

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Wnt signalling in testicular descent: a candidate mechanism for cryptorchidism in Robinow syndrome.

Authors: Harisis, GN  Chen, N  Farmer, PJ  Bodemer, D  Li, R  Sourial, M  Southwell, BR  Balic, A  Hutson, JM 
Citation: Harisis GN, etal., J Pediatr Surg. 2013 Jul;48(7):1573-7. doi: 10.1016/j.jpedsurg.2012.08.038.
RGD ID: 11537370
Pubmed: PMID:23895974   (View Abstract at PubMed)
DOI: DOI:10.1016/j.jpedsurg.2012.08.038   (Journal Full-text)

BACKGROUND/AIMS: Robinow syndrome is caused by mutations in Wnt-5a or its receptor Ror2 and can lead to cryptorchidism, though the mechanisms are unclear. Wnt-5a knock-out mice fail to undergo gubernacular swelling, similar to insulin-like hormone 3 (INSl-3) knock-out mice. We aimed to characterise Wnt-5a and Ror2 expression in rat gubernacula to better understand how Wnt-5a signalling affects testicular descent. METHODS: Sprague-Dawley rats (n = 27) were collected with ethics approval (A644) at embryonic days (E) 15, 17, 19 and postnatal day (D) 2. Control and antiandrogen-treated groups were processed for immunohistochemistry for Wnt-5a, Ror2 and beta-catenin. Sagittal sections were examined using confocal microscopy. RESULTS: Wnt-5a and Ror2 were strongly expressed in the gubernacular bulb at E17 controls, their levels declining at E19 and almost absent by D2. Wnt-5a significantly co-localised with the important transcription factor beta-catenin at E17. There was no obvious difference in staining with androgen blockade. CONCLUSION: Wnt-5a, through Ror2 and beta-catenin may play a vital role in regulating the gubernacular swelling reaction downstream of INSL-3. Human mutations in Wnt-5a or Ror2 could prevent early gubernacular growth, as suggested by undescended testes in 70% of patients with Robinow Syndrome.

Gene Ontology Annotations    Click to see Annotation Detail View

Biological Process
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
male genitalia development  IEP 11537370 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ror2  (receptor tyrosine kinase-like orphan receptor 2)


Additional Information