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| Status |
Public on May 02, 2024 |
| Title |
Liver-specific DICER1 syndrome model mice develop cystic liver tumors with defective primary cilia |
| Organism |
Mus musculus |
| Experiment type |
Expression profiling by high throughput sequencing
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| Summary |
DICER1 syndrome is a tumor predisposition syndrome caused by familial genetic mutations in DICER1. Pathogenic variants of DICER1 have been discovered in many rare cancers, including cystic liver tumors. However, the molecular mechanisms underlying liver lesions induced by these variants remain unclear. In the present study, we sought to gain a better understanding of the pathogenesis of these variants by generating a mouse model of liver-specific DICER1 syndrome. The mouse model developed bile duct hyperplasia with fibrosis, similar to congenital hepatic fibrosis, as well as cystic liver tumors resembling those in Caroli's syndrome, intrahepatic cholangiocarcinoma, and hepatocellular carcinoma. Interestingly, the mouse model of DICER1 syndrome showed abnormal formation of primary cilia in the bile duct epithelium, which is a known cause of bile duct hyperplasia and cyst formation. These results indicated that DICER1 mutations contribute to cystic liver tumors by inducing defective primary cilia. The mouse model generated in this study will be useful for elucidating the potential mechanisms of tumorigenesis induced by DICER1 variants and for obtaining a comprehensive understanding of DICER1 syndrome.
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| Overall design |
RNA profiles of liver from DICER1 syndrome model mouse. 4-weeks-old, female, two WT and two DICER1 syndrome model mice.
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| Web link |
https://pubmed.ncbi.nlm.nih.gov/38922876/
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| Contributor(s) |
Ohno S, Kuroda M |
| Citation(s) |
38922876 |
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| Submission date |
May 02, 2023 |
| Last update date |
Aug 05, 2024 |
| Contact name |
Shin-ichiro Ohno |
| Organization name |
Tokyo Medical University
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| Department |
Molecular Pathology
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| Street address |
6-1-1 Shinjuku
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| City |
Shinjuku-ku |
| State/province |
Tokyo |
| ZIP/Postal code |
1608402 |
| Country |
Japan |
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| Platforms (1) |
| GPL21103 |
Illumina HiSeq 4000 (Mus musculus) |
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| Samples (4)
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| Relations |
| BioProject |
PRJNA966139 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE231487_RAW.tar |
62.3 Mb |
(http)(custom) |
TAR (of GTF) |
SRA Run Selector |
| Raw data are available in SRA |
| Processed data provided as supplementary file |
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