Alternatively processed and compiled RNA-Sequencing and clinical data for thousands of samples from The Cancer Genome Atlas
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ABSTRACT:
ORGANISM(S): Homo sapiens
PROVIDER: GSE62944 | GEO | 2015/01/27
SECONDARY ACCESSION(S): PRJNA266377
REPOSITORIES: GEO
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Project description:Experiment type: Expression profiling by microarray and RNA-seq data, Third-party re-analysis The purpose of our study is to construct breast cancer cell line BT20-specific interactome by aggregating publically available microarray or RNA-seq samples, and identify novel transcriptional regulators that control breast cancer progression. We collected 101 samples of BT20 cell line microarray or RNA-seq from 12 prior studies and our own study data, GSE120919. We performed normalization for Affymetrix microarray platform and Illumina HiSeq and NovaSeq platform datasets. For the normalization, we used SCAN.UPC R package (ver.2.24.0, PMID: 22959562, https://www.bioconductor.org/packages/release/bioc/html/SCAN.UPC.html) on Affymetrix microarray platform datasets. We use Rsubread R package (ver.1.30.5, PMID: 23558742, http://bioconductor.org/packages/Rsubread/), TPM log2 values on Illumina HiSeq and NovaSeq platform datasets. And then, we performed batch effect adjusting to combine the datasets which came from different laboratories. The matrix data we deposited in GEO has normalized log2 signal intensity for 12,360 genes, and the genes were mapped to human Entrez Gene IDs that overlapped across 13 datasets (a total number of 101 samples). BT20-specific interactome was assembled by Algorithm for the Reconstruction of Accurate Cellular Networks (ARACNe, PMID: 16723010). Then, we used Master Regulator Analysis-Fisher?s Extact Test (MRA-FET, PMID: 20531406) to infer transcription factors which control a gene signature dysregulated by a fusion gene in BT20 cell line (please refer to GSE120919). We discovered SNAI2 as a master regulator candidate to modulate the gene signature in the fusion gene expressing BT20. Our findings will provide biological insights into the role of the fusion gene in breast cancer.
2020-03-28 | GSE123917 | GEO
Project description:RNA-seq was performed using RNA extracted from blasted CD4+ T cells from individuals with TCF3 (haploinsufficiency [HI], null, or dominant negative [DN] mutations and healthy controls for the following study groups: healthy controls (HC, n=4) and patients with TCF3 mutations (HI=4, null=1, DN=1 ). Libraries were prepared using the AmpliSeq for Illumina Transcriptome Human Gene Expression panel. RNA-seq was performed on the Illumina HiSeq 2500 (Illumina; AmpliSeq for Illumina/HiSeq 2500). Demultiplexed reads were mapped to the hg19 genome using the splice-aware aligner Tophat (Trapnell et al., 2009). Gene-level counts data were generated using the Rsubread feature counts a read summarization program that counts mapped reads for genomic features such as genes (Liao et al., 2019). Differential expression analysis was performed using R (v.3.5.3) and DESeq2 (v.1.22.2)(Love et al., 2014).
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Project description:Guanine-rich nucleic acids are known to form highly stable G-quadruplex structures, also known as G-quartets. Recently, there has been a tremendous amount of interest in studying G-quadruplexes owing to the realization of their biological importance. G-rich sequences (GRSs) capable of forming G-quadruplexes are found in the vicinity of polyadenylation regions and are involved in regulating 3' end processing of mammalian pre-mRNAs. G-rich motifs are also known to play an important role in alternative, tissue-specific splicing by interacting with hnRNP H protein subfamily. Whether quadruplex structure directly plays a role in regulating RNA processing events requires further investigation. To date there has not been a comprehensive effort to study G-quadruplexes near RNA processing sites. We have applied a computational approach to map putative Quadruplex forming GRSs within the transcribed regions of a large number of alternatively processed human and mouse gene sequences that were obtained as fully annotated entries from GenBank and RefSeq. We have used the computed data to build the GRSDB database that provides a unique avenue for studying G-quadruplexes in the context of RNA processing sites. GRSDB website offers visual comparison of G-quadruplex distribution patterns among all the alternative RNA products of a gene with the help of dynamic graphics. At present, GRSDB contains data from 1310 human and mouse genes, of which 1188 are alternatively processed. It has a total of 379,223 predicted G-quadruplexes, of which 54,252 are near RNA processing sites. GRSDB is a good resource for researchers interested in investigating the functional relevance of G-quadruplexes, especially in the context of alternative RNA processing. It can be accessed at http://bioinformatics.ramapo.edu/grsdb/.
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2020-09-16 | GSE139001 | GEO
Project description:UNLABELLED:Chromosome rearrangements occur in a variety of eukaryotic life cycles, including during the development of the somatic macronuclear genome in ciliates. Previous work on the phyllopharyngean ciliate Chilodonella uncinata revealed that macronuclear ?-tubulin and protein kinase gene families share alternatively processed germ line segments nested within divergent regions. To study genome evolution in this ciliate further, we characterized two additional alternatively processed gene families from two cryptic species of the ciliate morphospecies C. uncinata: those encoding histidine acid phosphatase protein (Hap) and leishmanolysin family protein (Lei). Analyses of the macronuclear Hap and Lei sequences reveal that each gene family consists of three members in the macronucleus that are marked by identical regions nested among highly divergent regions. Investigation of the micronuclear Hap sequences revealed a complex pattern in which the three macronuclear sequences are derived either from a single micronuclear region or from a combination of this shared region recombined with additional duplicate micronuclear copies of Hap. We propose a model whereby gene scrambling evolves by gene duplication followed by partial and reciprocal degradation of the duplicate sequences. In this model, alternative processing represents an intermediate step in the evolution of scrambled genes. Finally, we speculate on the possible role of genome architecture in speciation in ciliates by describing what might happen if changes in alternatively processed loci occur in subdivided populations. IMPORTANCE:Genome rearrangements occur in a variety of eukaryotic cells and serve as an important mechanism for generating genomic diversity. The unusual genome architecture of ciliates with separate germline and somatic nuclei in each cell, provides an ideal system to study further principles of genome evolution. Previous analyses revealed complex forms of chromosome rearrangements, including gene scrambling and alternative processing of germ line chromosomes. Here we describe more complex rearrangements between germ line and somatic chromosomes than previously seen in alternatively processed gene families. Drawing on the present and previous findings, we propose a model in which alternative processing of duplicated micronuclear regions represents an intermediate stage in the evolution of scrambled genes. Under this model, alternative processing may provide insights into a mechanism for speciation in ciliates. Our data on gene scrambling and alternative processing also enhance views on the dynamic nature of genomes across the eukaryotic tree of life.
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