A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation

MZ Jackson, KA Gruner, C Qin… - Development, 2014 - journals.biologists.com
MZ Jackson, KA Gruner, C Qin, WG Tourtellotte
Development, 2014journals.biologists.com
Familial dysautonomia (FD) is characterized by severe and progressive sympathetic and
sensory neuron loss caused by a highly conserved germline point mutation of the human
ELP1/IKBKAP gene. Elp1 is a subunit of the hetero-hexameric transcriptional elongator
complex, but how it functions in disease-vulnerable neurons is unknown. Conditional
knockout mice were generated to characterize the role of Elp1 in migration, differentiation
and survival of migratory neural crest (NC) progenitors that give rise to sympathetic and …
Familial dysautonomia (FD) is characterized by severe and progressive sympathetic and sensory neuron loss caused by a highly conserved germline point mutation of the human ELP1/IKBKAP gene. Elp1 is a subunit of the hetero-hexameric transcriptional elongator complex, but how it functions in disease-vulnerable neurons is unknown. Conditional knockout mice were generated to characterize the role of Elp1 in migration, differentiation and survival of migratory neural crest (NC) progenitors that give rise to sympathetic and sensory neurons. Loss of Elp1 in NC progenitors did not impair their migration, proliferation or survival, but there was a significant impact on post-migratory sensory and sympathetic neuron survival and target tissue innervation. Ablation of Elp1 in post-migratory sympathetic neurons caused highly abnormal target tissue innervation that was correlated with abnormal neurite outgrowth/branching and abnormal cellular distribution of soluble tyrosinated α-tubulin in Elp1-deficient primary sympathetic and sensory neurons. These results indicate that neuron loss and physiologic impairment in FD is not a consequence of abnormal neuron progenitor migration, differentiation or survival. Rather, loss of Elp1 leads to neuron death as a consequence of failed target tissue innervation associated with impairments in cytoskeletal regulation.
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