Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice
J. Clin. Invest. John Falardeau, et al. 118:2822 doi:10.1172/JCI34538 [
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Figure 1Genomic structure and differential splicing of the human
FGF8 gene.
(
A) Structure of the
FGF8 gene. Boxes denote exons; lines denote introns. (
B) Schematic of the 4 FGF8 isoforms identified in humans, which differ with regard to the inclusion of exon 1C and part of exon 1D. Most of the conserved FGF core is encoded by exons 2 and 3. Numbers above exons denote aa numberings for each isoform. The mutations identified to date are indicated by arrows numbered according to the FGF8f and FGF8b protein isoforms. Asterisk denotes the homozygous change.