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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

E-mail(s)

lukasz.sznajder@unlv.edu

Organization name

University of Nevada-Las Vegas (UNLV)

Department

Chemistry and Biochemistry

Lab

Sznajder

Street address

4505 S. Maryland Pkwy.

City

Las Vegas

State/province

Nevada

ZIP/Postal code

89154

Country

USA

Platforms (2)

GPL17021	Illumina HiSeq 2500 (Mus musculus)
GPL18573	Illumina NextSeq 500 (Homo sapiens)

Samples (33)

More...

GSM4116218	129-Mbnl1KO_Thymus_A01241
GSM4116219	129-Mbnl1KO_Thymus_A01242
GSM4116220	129-Mbnl1KO_Thymus_A01243

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BioProject

SRA

Download family	Format
SOFT formatted family file(s)	SOFT
MINiML formatted family file(s)	MINiML
Series Matrix File(s)	TXT

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 Selector
Raw data are available in SRA
Processed data provided as supplementary file
Processed data are available on Series record