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Status |
Public on Nov 04, 2020 |
Title |
Mapping endothelial-cell diversity in cerebral cavernous malformations at single cell resolution |
Organism |
Mus musculus |
Experiment type |
Expression profiling by high throughput sequencing
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Summary |
Cerebral cavernous malformation (CCM) is a rare neurovascular disease that is characterized by enlarged and irregular blood vessels that often lead to cerebral hemorrhage. Loss-of-function mutations to any of three genes results in CCM lesion formation; namely, CCM1, CCM2, and CCM3. Here, we report for the first time in-depth single-cell RNA sequencing, combined with spatial transcriptomics and immunohistochemistry, to comprehensively characterize subclasses of brain endothelial cells under both normal conditions and after deletion of Ccm3 in a mouse model of CCM. Integrated single-cell analysis identifies arterial endothelial cells as refractory to CCM transformation. Conversely, a subset of angiogenic venous capillary endothelial cells and respective resident endothelial progenitors is at the origin of CCM lesions. These data are relevant for the understanding of the plasticity of the brain vascular system and provide novel insights into the molecular basis of CCM disease at the single cell level.
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Overall design |
Single cell RNA-seq of brain endothelial cells from Ccm3 ko and Ccm3 wt mice, in duplicate
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Contributor(s) |
Orsenigo F, Conze LL, Jauhiainen S, Corada M, Lazzaroni F, Malinverno M, Sundell V, Cunha SI, Brännström J, Globish M, Maderna C, Lampugnani MG, Magnusson PU, Dejana E |
Citation(s) |
33138917 |
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Submission date |
Aug 06, 2020 |
Last update date |
Nov 06, 2020 |
Contact name |
Elisabetta Dejana |
E-mail(s) |
elisabetta.dejana@igp.uu.se
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Organization name |
Uppsala University
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Department |
Immunology, Genetics and Pathology
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Street address |
Dag Hammarskjolds väg 20
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City |
Uppsala |
ZIP/Postal code |
751 85 |
Country |
Sweden |
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Platforms (1) |
GPL24247 |
Illumina NovaSeq 6000 (Mus musculus) |
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Samples (4)
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Relations |
BioProject |
PRJNA655629 |
SRA |
SRP276363 |
Supplementary file |
Size |
Download |
File type/resource |
GSE155788_RAW.tar |
424.4 Mb |
(http)(custom) |
TAR (of MTX, TSV) |
SRA Run Selector |
Raw data are available in SRA |
Processed data provided as supplementary file |
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