Finzsch, Markus and Schreiner, Silke and Kichko, Tatjana and Reeh, Peter and Tamm, Ernst R. and Boesl, Michael R. and Meijer, Dies and Wegner, Michael (2010) Sox10 is required for Schwann cell identity and progression beyond the immature Schwann cell stage. JOURNAL OF CELL BIOLOGY, 189 (4). pp. 701-712. ISSN 0021-9525, 1540-8140
Full text not available from this repository. (Request a copy)Abstract
Mutations in the transcription factor SOX10 cause neurocristopathies, including Waardenburg-Hirschsprung syndrome and peripheral neuropathies in humans. This is partly attributed to a requirement for Sox10 in early neural crest for survival, maintenance of pluripotency, and specification to several cell lineages, including peripheral glia. As a consequence, peripheral glia are absent in Sox10-deficient mice. Intriguingly, Sox10 continues to be expressed in these cells after specification. To analyze glial functions after specification, we specifically deleted Sox10 in immature Schwann cells by conditional mutagenesis. Mutant mice died from peripheral neuropathy before the seventh postnatal week. Nerve alterations included a thinned perineurial sheath, increased lipid and collagen deposition, and a dramatically altered cellular composition. Nerve conduction was also grossly aberrant, and neither myelinating nor non-myelinating Schwann cells formed. Instead, axons of different sizes remained unsorted in large bundles. Schwann cells failed to develop beyond the immature stage and were unable to maintain identity. Thus, our study identifies a novel cause for peripheral neuropathies in patients with SOX10 mutations.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | TRANSCRIPTION FACTOR SOX10; NEURAL CREST CELLS; PERIPHERAL NERVOUS-SYSTEM; HIRSCHSPRUNG-DISEASE; MOUSE MODEL; GENE-EXPRESSION; PROTEIN ZERO; GLIAL-CELLS; STEM-CELLS; DIFFERENTIATION; |
| Subjects: | 500 Science > 570 Life sciences |
| Divisions: | Biology, Preclinical Medicine > Institut für Anatomie > Lehrstuhl für Humananatomie und Embryologie > Prof. Dr. Ernst Tamm |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 30 Jul 2020 07:47 |
| Last Modified: | 30 Jul 2020 07:47 |
| URI: | https://pred.uni-regensburg.de/id/eprint/24722 |
Actions (login required)
 |
View Item |
