Hypogonadotropic hypogonadism and peripheral neuropathy in Ebf2-null mice.
Olf/Ebf transcription factors have been implicated in numerous developmental processes, ranging from B-cell development to neuronal differentiation. We describe mice that carry a targeted deletion within the Ebf2 (O/E3) gene. In Ebf2-null mutants, because of defective migration of gonadotropin releasing hormone-synthesizing neurons, formation of the neuroendocrine axis (which is essential for pubertal development) is impaired, leading to secondary hypogonadism. In addition, Ebf2(-/-) peripheral nerves feature defective axon sorting, hypomyelination, segmental dysmyelination and axonal damage, accompanied by a sharp decrease in motor nerve conduction velocity. Ebf2-null mice reveal a novel genetic cause of hypogonadotropic hypogonadism and peripheral neuropathy in the mouse, disclosing an important role for Ebf2 in neuronal migration and nerve development.
Corradi
Anna
A
San Raffaele Scientific Institute, Milan, Italy.
Croci
Laura
L
Broccoli
Vania
V
Zecchini
Silvia
S
Previtali
Stefano
S
Wurst
Wolfgang
W
Amadio
Stefano
S
Maggi
Roberto
R
Quattrini
Angelo
A
Consalez
G Giacomo
GG
D000818:Animals; D051792:Basic Helix-Loop-Helix Proteins; D002465:Cell Movement / Q000502:physiology; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000502:physiology*; D005260:Female; D018390:Gene Targeting; D007987:Gonadotropin-Releasing Hormone / Q000378:metabolism*; D007006:Hypogonadism / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D007031:Hypothalamus / Q000166:cytology / Q000378:metabolism; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D009297:Nasal Mucosa / Q000378:metabolism; D009431:Neural Conduction; D009474:Neurons / Q000166:cytology / Q000473:pathology / Q000502:physiology*; D009666:Nose / Q000166:cytology; D012584:Sciatic Nerve / Q000473:pathology / Q000503:physiopathology; D012671:Seminiferous Tubules / Q000166:cytology / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics* / Q000502:physiology*
D051792:Basic Helix-Loop-Helix Proteins; D004268:DNA-Binding Proteins; D007987:Gonadotropin-Releasing Hormone; D014157:Transcription Factors; C489922:Ebf2 protein, mouse