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GEO help: Mouse over screen elements for information. |
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| Status |
Public on Mar 10, 2020 |
| Title |
Cellular origin, tumour progression and pathogenic mechanisms of cutaneous neurofibromas revealed by mice with Nf1 knockout in boundary cap cells |
| Organism |
Mus musculus |
| Experiment type |
Expression profiling by high throughput sequencing
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| Summary |
Patients carrying an inactive NF1 allele develop tumours of Schwann cell origin called neurofibromas (NFs). Genetically engineered mouse models have significantly enriched our understanding of plexiform forms of NFs (pNFs). However, this has not been the case for cutaneous neurofibromas (cNFs), observed in all NF1 patients, as no previous model recapitulates their development. Here, we show that conditional Nf1 inactivation in Prss56-positive boundary cap cells leads to bona fide pNFs and cNFs. This work identifies subepidermal glia as a likely candidate for the cellular origin of cNFs, and provides insights on disease mechanisms, revealing a long, multistep pathological process in which inflammation play pivotal role. This new mouse model is an important asset for future clinical and therapeutic investigations of NF1-associated neurofibromas.
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| Overall design |
Comparaison between injured (14 days post-injury) versus uninjured skin isolated from Nf1-KO and control mice
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| Contributor(s) |
Radomska KJ, Coulpier F, Gresset A, Schmitt A, Debbiche A, Lemoine S, Wolkenstein P, Vallat J, Charnay P, Topilko P |
| Citation(s) |
30348676 |
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| Submission date |
Jul 27, 2018 |
| Last update date |
Mar 10, 2020 |
| Contact name |
Stephane Le Crom |
| Organization name |
IBENS
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| Department |
Genomic Core Facility
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| Street address |
46 rue Ulm
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| City |
PARIS |
| ZIP/Postal code |
75230 |
| Country |
France |
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| Platforms (1) |
| GPL19057 |
Illumina NextSeq 500 (Mus musculus) |
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| Samples (12)
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| Relations |
| BioProject |
PRJNA483185 |
| SRA |
SRP155510 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE117781_RAW.tar |
3.9 Mb |
(http)(custom) |
TAR (of TSV) |
SRA Run Selector |
| Raw data are available in SRA |
| Processed data provided as supplementary file |
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