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Transcriptome analysis of adult Klinefelter testis tissue samples compared to controls

UID: 10824

Author(s): Boeg Wingey, Sofia, Dalgaard, Marlene Danner, Belling, Kirstine G., Malte Jensen, Jacob, Nielsen, John Erik, Aksglaede, Lise, Heide Schierup, Mikkel, Brunak, Søren, Skakkebæk, Niels Erik, Juul, Anders, Rajpert-De Meyts, Ewa, Almstrup, Kristian

Description
Summary from the GEO: "In humans, the most common sex chromosomal disorder is Klinefelter syndrome (KS), caused by the presence of one or more extra X-chromosomes. The KS patients display a diverse adult phenotype with increased height, gynaecomastia, and hypergonadotropic hypogonadism as the most common symptoms. Men with KS are almost always infertile due to testicular degeneration, which accelerates during puberty. Very few studies investigated the global gene expression analysis of adult KS testes and, more importantly, which cell types the differentially expressed transcripts originate from. Transcriptome analysis by RNA sequencing of fixed and paraffin embedded testes originating from 3 adult KS samples and 3 adult cellularity-matched controls revealed 236 differentially expressed transcripts in the adult KS testis. To examine the cellular origin of the differentially expressed transcripts, transcriptome profiling was also carried out on 4 testes with Sertoli Cell-Only and 4 testes with full spermatogenesis. Also, pre-pubertal KS and controls were RNA-sequenced.
Includes a total of 22 testis samples. 3 adult Klinefelter, 3 Klinefelter-like, 4 Sertoli Cell-Only, 4 with full spermatogenesi, 4 pre-pubertal Klinefelter and 4 pre-pubertal controls."
Subject of Study
Homo sapiens
Subject(s)
Data Mining
Klinefelter Syndrome
Sequence Analysis, RNA
Access via GEO

GZip and Plain Text Sequencing Data
Accession #: GSE103905

Access via SRA

RNA Sequence reads for 22 samples
Accession #: SRP117733

Access via BioProject

Additional information about overall initiative.
Accession #: PRJNA407448

Access Restrictions
Free to All
Access Instructions
The NCBI Gene Expression Omnibus, SRA, and BioProject databases provide open access to these files.
Associated Publications
Nieuwenhuis TO, Yang SY, Verma RX, et al. Consistent RNA sequencing contamination in GTEx and other data sets. Nat Commun. 2020;11(1):1933. Published 2020 Apr 22.
Data Type
Genomic
Equipment Used
Illumina HiSeq 2000

High throughput gene sequencing system

Dataset Format(s)
Plain Text, SRA, gzip
Dataset Size
1.0 Mb (TXT), 69.1 Gb (SRA)
Data Catalog Record Updated
2023-12-07