Novel insights in FGFR1 regulation: lessons from Kallmann syndrome.
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Hu Y, Bouloux PM
Novel insights in FGFR1 regulation: lessons from Kallmann syndrome.
Trends Endocrinol Metab. 2010 Jun;21(6):385-93. doi: 10.1016/j.tem.2010.01.004. Epub 2010 Feb 1.
- PubMed ID
- 20117945 [ View in PubMed]
- Abstract
Disrupted fibroblast growth factor receptor (FGFR)1 signalling has been shown to cause Kallmann syndrome (KS), a human genetic disorder characterised by olfactory bulb dysgenesis and hypogonadotrophic hypogonadism. Loss-of-function mutations in the KS gene KAL-2/FGFR1 account for roughly 10% of KS cases, leading to the autosomal dominant form of the disease. Anosmin-1, the KAL-1 gene product underlying X-linked KS, modulates FGFR1 signalling via regulation of FGF2/FGFR1/heparin signalling complex assembly and activity. This review covers recent advances in the potential interactions of KS-associated molecules within the FGFR1 signalling complex, and demonstrates a novel mechanism of pre-signalling modulation that mechanistically links an autosomal dominant and sex-linked mode of inheritance of this disease, highlighting the central role of FGFR1 signalling in KS.