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Series GSE138691 Query DataSets for GSE138691
Status Public on Mar 05, 2020
Title Loss of MBNL1 induces RNA mis-processing in the thymus and peripheral blood.
Organisms Homo sapiens; Mus musculus
Experiment type Expression profiling by high throughput sequencing
Third-party reanalysis
Summary The thymus is a primary lymphoid organ that plays an essential role in T lymphocyte maturation and selection during development of one arm of the mammalian adaptive immune response. Although transcriptional mechanisms have been well documented in thymocyte development, co-/post-transcriptional modifications are also important but have received less attention. Here, we demonstrate that the RNA alternative splicing factor MBNL1, which is sequestered in nuclear RNA foci by C(C)UG short tandem repeat expansions in myotonic dystrophy (DM), is essential for normal thymus development and function. Mbnl1 129S1 knockout mice develop postnatal thymic hyperplasia with thymocyte accumulation. Transcriptome analysis indicates numerous gene expression and RNA mis-splicing events, including transcription factors from the TCF/LEF (T-cell factor/lymphoid enhancer factor) family. CNBP, the gene affected in DM type 2 (DM2), is coordinately expressed with MBNL1 in the developing thymus and DM2 CCTG expansions induce similar transcriptome alterations in DM2 blood, which thus serve as disease-specific biomarkers.
Overall design RNA-Seq was performed on Mbnl1 knockout and wild type mouse thymi as well as human DM2, DM1, C9-ALS/FTD, sporadic ALS, and unaffected control PBMCs and/or whole blood.
Contributor(s) Sznajder ŁJ, Scotti MM, Shin J, Taylor K, Ivankovic F, Nutter CA, Aslam FN, Subramony SH, Ranum LP, Swanson MM
Citation(s) 32332745
Submission date Oct 10, 2019
Last update date May 07, 2020
Contact name Łukasz J. Sznajder
Organization name University of Florida
Department Molecular Genetics and Microbiology
Lab Dr. Maurice S. Swanson
Street address 2033 Mowry Road, Florida
City Gainesville
State/province Florida
ZIP/Postal code 32610
Country USA
Platforms (2)
GPL17021 Illumina HiSeq 2500 (Mus musculus)
GPL18573 Illumina NextSeq 500 (Homo sapiens)
Samples (33)
GSM4116218 129-Mbnl1KO_Thymus_A01241
GSM4116219 129-Mbnl1KO_Thymus_A01242
GSM4116220 129-Mbnl1KO_Thymus_A01243
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Reanalysis of GSM3463824
BioProject PRJNA577061
SRA SRP225192

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Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE138691_R2_Sznajder_Supplementary_Data_1.xlsx 2.5 Mb (ftp)(http) XLSX
GSE138691_RAW.tar 171.6 Mb (http)(custom) TAR (of TXT)
GSE138691_Sznajder_Supplementary_Data_2.xls.gz 1.1 Mb (ftp)(http) XLS
SRA Run SelectorHelp
Raw data are available in SRA
Processed data provided as supplementary file
Processed data are available on Series record

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