- Title
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A Rare Myelin Protein Zero (MPZ) Variant Alters Enhancer Activity In Vitro and In Vivo
- Authors
- Antonellis, A., Dennis, M.Y., Burzynski, G., Huynh, J., Maduro, V., Hodonsky, C.J., Khajavi, M., Szigeti, K., Mukkamala, S., Bessling, S.L.; NISC Comparative Sequencing Program, Pavan, W.J., McCallion, A.S., Lupski, J.R., and Green, E.D.
- Source
- Full text @ PLoS One
MPZ-MCS3 directs reporter gene expression in relevant tissues in vivo. Wild-type (A, C, and E) and c.126-1086T>A variant (B, D, and F) containing MPZ-MCS3 were studied for their ability to direct the expression of EGFP in developing zebrafish; expression was analyzed at the indicated developmental stages; EGFP expression is noted in structures consistent with the hindbrain (Hb), midbrain (Mb), forebrain (Fb), descending motor neurons (arrows), lateral line (arrow heads), and oligodendrocytes (boxes and inset in F). |
MPZ-MCS3 wild-type transgenic zebrafish embryos (7dpf) stained for EGPF (A-K) and acetylated tubulin (AcT in B,C,E,F,H, and I) and MBP (K and L). Panels A-C and J-K display the lateral view at the PLL ganglion region. Panels D-F represent lateral views showing trunk expression, whereas panels G-I show sympathetic chain expression from the ventro-lateral view; anterior is to the left; white arrowheads indicate PLL; white arrows indicate probable oligodendrocytes and blue arrows point at cells expressing EGFP but not AcT in the sympathetic chain nerves. EXPRESSION / LABELING:
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