Prokr2-deficient mice display vascular dysmorphology of the fetal testes: Potential implications for Kallmann syndrome aetiology

Svingen, T., McClelland, K. S., Masumoto, K., Sujino, M., Nagano, M., Shigeyoshi, Y. and Koopman, P. (2011) Prokr2-deficient mice display vascular dysmorphology of the fetal testes: Potential implications for Kallmann syndrome aetiology. Sexual Development, 5 6: 294-303. doi:10.1159/000335160


Author Svingen, T.
McClelland, K. S.
Masumoto, K.
Sujino, M.
Nagano, M.
Shigeyoshi, Y.
Koopman, P.
Title Prokr2-deficient mice display vascular dysmorphology of the fetal testes: Potential implications for Kallmann syndrome aetiology
Formatted title
Prokr2-deficient mice display vascular dysmorphology of the fetal testes: Potential implications for Kallmann syndrome aetiology
Journal name Sexual Development   Check publisher's open access policy
ISSN 1661-5425
1661-5433
Publication date 2011-01-01
Year available 2011
Sub-type Article (original research)
DOI 10.1159/000335160
Open Access Status Not yet assessed
Volume 5
Issue 6
Start page 294
End page 303
Total pages 10
Place of publication Basel, Switzerland
Publisher S. Karger
Language eng
Abstract Kallmann syndrome is a form of hypogonadotropic hypogonadism also associated with the loss of smell. It is a phenotypically and genetically heterogeneous disorder, with mutations in several known causative genes now accounting for approximately 30% of cases. The prevalence for the disease is also much higher in males than in females, a phenomenon that remains to be fully explained. Here, we show that loss of Prokr2, which is linked to autosomal recessive Kallmann syndrome type 3 ( KAL3; OMIM 244200), affects fetal testis differentiation in mice. We find that Prokr2 is specifically expressed in the XY gonads during sex determination and fetal sexual differentiation, and knockout mice display a variable degree of compromised vasculature in the fetal testes. This phenotype offers potential insight into the clinical heterogeneity observed within familial cases, and may contribute to the gender bias in Kallmann syndrome patients. Copyright (C) 2012 S. Karger AG, Basel
Formatted abstract
Kallmann syndrome is a form of hypogonadotropic hypogonadism also associated with the loss of smell. It is a phenotypically and genetically heterogeneous disorder, with mutations in several known causative genes now accounting for approximately 30% of cases. The prevalence for the disease is also much higher in males than in females, a phenomenon that remains to be fully explained. Here, we show that loss of Prokr2, which is linked to autosomal recessive Kallmann syndrome type 3 (KAL3; OMIM 244200), affects fetal testis differentiation in mice. We find that Prokr2 is specifically expressed in the XY gonads during sex determination and fetal sexual differentiation, and knockout mice display a variable degree of compromised vasculature in the fetal testes. This phenotype offers potential insight into the clinical heterogeneity observed within familial cases, and may contribute to the gender bias in Kallmann syndrome patients.
Keyword Disorder of sexual development
Gonadogenesis
Mouse model
Sex determination
Testis
Vasculogenesis
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes Published online: January 4, 2012

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2012 Collection
Institute for Molecular Bioscience - Publications
 
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Created: Fri, 13 Jan 2012, 20:18:34 EST by Dr Terje Svingen on behalf of Institute for Molecular Bioscience