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Transcriptional profiling of TSC2-null cell lines UMB1949 and 621-102 (TRI102)

ABSTRACT: RNA-sequencing was performed to establish the transcriptional profiles of two cell lines used in our study. 621-102 (TRI102) were originally isolated from a lymphangioleiomyomatosis-associated renal angiomyolipoma. UMB1949 were originally isolated from a male tuberous sclerosis complex (TSC) patient with renal angiomyolipoma and immortalized via SV40 large T antigen and hTERT introduction. These samples were seuqenced as part of a larger study (Martin et al. 2017, Nat. Comm. https://doi.org/10.1038/ncomms15816).

ORGANISM(S): Homo sapiens

PROVIDER: GSE189969 | GEO | 2021/12/04

REPOSITORIES: GEO

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Whole transcriptome (gene expression and splice isoform changes) profiling using Affymetrix Human Transcriptome Array 2.0

Project description:Transcriptome analysis of total RNA samples from human cell line (LAM 621-101, female) Global gene and splice isoform expression profiling was performed to get a comprehensive view of transcriptome changes in human Lymphangioleiomyomatosis (LAM 621-101, female) cell line after inhibition of mTORC1 and SRPK2 proteins.

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Transcriptional profiling of TSC2-null cell lines UMB1949 and 621-102 (TRI102)

Project description:Transcriptional profiling of TSC2-null cell lines UMB1949 and 621-102 (TRI102)

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Project description:Tuberous Sclerosis Complex (TSC) is caused by germline TSC1 or TSC2 mutations, leading to hyperactivation of mechanistic target of rapamycin complex 1 (mTORC1) and tumors in multiple organs including the brain, heart, lung (lymphangioleiomyomatosis), and kidney (angiomyolipoma and renal cell carcinoma). Previously, we found that TFEB is constitutively active in models of TSC. To determine the impact of TFEB in vivo, we generated two novel mouse models of TSC, resulting in premature death, in which kidney pathology was the primary phenotype. RNA sequencing revealed that lysosomal and proteasomal gene pathways were the most highly upregulated in the TSC2-deficient kidneys. Knockout of TFEB rescued both kidney pathology and overall survival in both models, indicating that TFEB is the primary driver of renal disease in TSC. Importantly, mTORC1 activity, which was elevated in the TSC2 knockout kidneys, was normalized by TFEB knockout. Knockdown of Rheb or treatment of TSC2-deficient cells with Rapamycin paradoxically increases TFEB phosphorylation at the mTORC1-site (S211) and relocalizes TFEB from the nucleus to the cytoplasm via a Rag-dependent mechanism. Accordingly, treatment of TSC2 knockout mice with Rapamycin normalized lysosomal gene expression, similar to TFEB knockout, suggesting that the beneficial effects of Rapamycin in TSC are TFEB-dependent. These results change the view of the mechanisms leading to mTORC1 hyperactivation in TSC and may lead to novel therapeutic avenues for the treatment of TSC.

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Transcriptomic Differences Associated with TSC2 Gene Expression Loss in Lymphangioleiomyomatosis

Project description:Transcriptomic Differences Associated with TSC2 Gene Expression Loss in Lymphangioleiomyomatosis

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Project description:Gene expression analysis of hiPSC-derived renal angiomyolipoma organoids

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