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Regulatory element copy number differences shape primate expression profiles.

ABSTRACT: Gene expression differences are shaped by selective pressures and contribute to phenotypic differences between species. We identified 964 copy number differences (CNDs) of conserved sequences across 3 primate species and examined their potential effects on gene expression profiles. Samples with copy number different genes had significantly different expression than samples with neutral copy number. Genes encoding regulatory molecules differed in copy number and were associated with significant expression differences. Additionally, we identified 127 CNDs which were processed pseudogenes and some of which were expressed. Furthermore, there were copy number different regulatory regions such as ultraconserved elements and long intergenic noncoding RNAs with the potential to affect expression. We postulate that CNDs of these conserved sequences fine-tune developmental pathways by altering the levels of RNA.

ORGANISM(S): Pan troglodytes Macaca mulatta

PROVIDER: GSE38572 | GEO | 2012/08/02

SECONDARY ACCESSION(S): PRJNA168156

REPOSITORIES: GEO

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Regulatory element copy number differences shape primate expression profiles

2012-08-01 | GSE33960 | GEO

Regulatory element copy number differences shape primate expression profiles.

Project description:Gene expression differences are shaped by selective pressures and contribute to phenotypic differences between species. We identified 964 copy number differences (CNDs) of conserved sequences across 3 primate species and examined their potential effects on gene expression profiles. Samples with copy number different genes had significantly different expression than samples with neutral copy number. Genes encoding regulatory molecules differed in copy number and were associated with significant expression differences. Additionally, we identified 127 CNDs which were processed pseudogenes and some of which were expressed. Furthermore, there were copy number different regulatory regions such as ultraconserved elements and long intergenic noncoding RNAs with the potential to affect expression. We postulate that CNDs of these conserved sequences fine-tune developmental pathways by altering the levels of RNA. Gene expression patterns were compared between human, chimpanzee and rhesus macaque lymphoblastoid cell lines using RNA-Seq. Samples from 6 individuals of each species were used. The 6 human samples were previously published as a part of GEO record GSE19480 (samples GSM485426, GSM485428, GSM485468, GSM485410, GSM485413 and GSM485414). The 6 chimpanzee and 6 rhesus macaquesamples are included in the current record (GSE38572).

2012-08-02 | E-GEOD-38572 | biostudies-arrayexpress

Multi-dimensional conservation analysis reveals transcriptional codes ruling the expression of conserved long noncoding RNAs

Project description:Although long non-coding RNAs (lncRNAs) encounter weaker evolutionary constraints and exhibit lower sequences conservation than coding genes, lncRNAs can conserve their features at different aspects. Here, we employed multiple approaches to systemically evaluate the conservation between human and mouse lncRNAs from various dimensions including sequences, promoter, global synteny, and local synteny, which led to the identification of 1731 conserved lncRNAs with 427 ultraconserved ones meeting multiple criteria. The conserved lncRNAs, in comparison with non-conserved ones, in generally have longer gene bodies, higher numbers of exons and transcripts, closer connections with human diseases, and are more abundant and widespread across different tissues. The transcriptional factor profile analysis revealed a significant enrichment of TF types and numbers in the promoters of conserved lncRNAs. We further identified a set of TFs that preferentially bind to conserved lncRNAs and exert stronger impacts on their expression than non-conserved lncRNAs’ expression. Thus, our study has revealed a new set of transcriptional “codes” that rules the expression of the conserved lncRNAs.

2023-03-19 | GSE156270 | GEO

Regulatory element copy number differences shape primate expression profiles

Project description:Regulatory element copy number differences shape primate expression profiles

| PRJNA150543 | ENA

Regulatory element copy number differences shape primate expression profiles.

Project description:Regulatory element copy number differences shape primate expression profiles.

| PRJNA168156 | ENA

Quantitative genome-wide enhancer activity maps for five Drosophila species show functional enhancer conservation and turnover during cis-regulatory evolution

Project description:Phenotypic differences between closely related species are thought to arise primarily from changes in gene expression due to mutations in cis-regulatory sequences (enhancers). However, it has remained unclear, how frequently mutations alter enhancer activity or create functional enhancers de novo. Here, we use STARR-seq, a recently developed quantitative enhancer assay, to determine genome-wide enhancer activity profiles for five Drosophila species in the constant trans-regulatory environment of D. melanogaster S2 cells. We find that the function of a large fraction of D. melanogaster enhancers is conserved in their orthologous sequences due to selection and stabilizing turnover of transcription factor motifs. Moreover, hundreds of enhancers have been gained since the D. melanogaster M-bM-^@M-^S D. yakuba split about 11 million years ago without apparent adaptive selection and can contribute to gene expression changes in vivo. Our finding that enhancer activity is often deeply conserved and frequently gained provides important functional insights into regulatory evolution. STARR-seq was performed in S2 cells with paired-end sequencing in two replicates and respective inputs using genomic DNA from different Drosophila species. RNA-seq was performed in a non-stranded manner without replicates for two Drosophila species.

2014-04-28 | E-GEOD-48251 | biostudies-arrayexpress

TAD Evolutionary and functional characterization reveals diversity in mammalian TAD boundary properties and function

Project description:Topological associating domains (TADs) are self-interacting genomic units crucial for shaping gene regulation patterns. Despite their importance, the extent of their evolutionary conservation and its functional implications remain largely unknown. In this study, we generate Hi-C and ChIP-seq data and compare TAD organization across four primate and four rodent species, and characterize the genetic and epigenetic properties of TAD boundaries in correspondence to their evolutionary conservation. We find 14% of all human TAD boundaries to be shared among all eight species (ultraconserved), while 15% are human-specific. Ultraconserved TAD boundaries have stronger insulation strength, CTCF binding, and enrichment of older retrotransposons, compared to species-specific boundaries. CRISPR-Cas9 knockouts of two ultraconserved boundaries in mouse models leads to tissue-specific gene expression changes and morphological phenotypes. Deletion of a human-specific boundary near the autism-related AUTS2 gene results in upregulation of this gene in neurons. Overall, our study provides pertinent TAD boundary evolutionary conservation annotations, and showcase the functional importance of TAD evolution.

2023-10-20 | GSE197926 | GEO

Genome-wide characterization of gene expression variations and DNA copy number changes in prostate cancer cell lines

Project description:Abstract: BACKGROUND: The aim of this study was to characterize gene expression and DNA copy number profiles in androgen sensitive (AS) and androgen insensitive (AI) prostate cancer cell lines on a genome-wide scale. METHODS: Gene expression profiles and DNA copy number changes were examined using DNA microarrays in eight commonly used prostate cancer cell lines. Chromosomal regions with DNA copy number changes were identified using cluster along chromosome (CLAC). RESULTS: There were discrete differences in gene expression patterns between AS and AI cells that were not limited to androgen-responsive genes. AI cells displayed more DNA copy number changes, especially amplifications, than AS cells. The gene expression profiles of cell lines showed limited similarities to prostate tumors harvested at surgery. CONCLUSIONS: AS and AI cell lines are different in their transcriptional programs and degree of DNA copy number alterations. This dataset provides a context for the use of prostate cancer cell lines as models for clinical cancers. This SuperSeries is composed of the SubSeries listed below.

2006-03-08 | GSE4396 | GEO

Testis-expressed cluster of microRNAs 959-964 controls spermatid differentiation in Drosophila melanogaster

Project description:MicroRNAs are a wide class of ~22 nt non-coding RNAs of metazoans capable of inhibiting target mRNAs translation by binding to partially complementary sites in their 3âUTRs. Due to their regulatory potential, miRNAs are implicated in functioning of a broad range of biological pathways and processes. Here we investigate the functions of the miR-959-964 cluster expressed predominantly in testes of Drosophila melanogaster. The deletion of miR-959-964 resulted in male sterility due to the disturbance of the spermatid individualization process. Analysis of the transcriptome by microarray followed by luciferase reporter assay revealed didum, for, fdl and CG10512 as the targets of miR-959-964. Moreover, the deletion of miR-959-964 is accompanied by a decreased the expression of genes responsible for microtubule-based movement and spermatid differentiation. Thus, we suggest that miR-959-964 can control the process of spermatid individualization by direct and indirect modulating the expression of different components of the individualization process. In addition, we have shown that in comparison to other miRNAs, the rate of evolution of the testis-specific miR-959-964 cluster is unusually high, indicating its possible involvement in speciation via reproductive isolation.

2015-10-29 | E-MTAB-3214 | biostudies-arrayexpress

Deep sequencing of small RNAs from different tissues in soybean

Project description:Analysis of flanking genomic sequences of unique small RNAs enabled identification of 419 miRNAs. Expression analysis revealed that miRNAs were differentially expressed in different tissues and development stages. Prediction of the miRNA target genes suggested that they are involved in important processes in soybean growth and development. Most conserved soybean miRNAs guide the cleavage of conserved genes. Our study significantly increased the number of known conserved and non-conserved miRNAs in soybean. Our description of soybean miRNAs can be used for functional characterization. one sample, We sequenced 2,570,250 small RNAs representing 1,157,365 unique sequences from different soybean tissues using sequence-by-synthesis high-throughput sequencing

2011-11-02 | E-GEOD-33378 | biostudies-arrayexpress

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