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Sequence and expression analysis of human chromosome 20 gaps

ABSTRACT: The finished human genome-assemblies comprise several hundred un-sequenced euchromatic gaps, which may be rich in long polypurine/polypyrimidine stretches. Human chromosome 20 currently has three remaining un-sequenced gaps on its q-arm. All three gaps are within gene-dense regions, or overlap loci associated with human disorders, including one gap, which is at DLGAP4. In this study we sequenced, determined the complete sizes and assessed epigenetic landscapes of all three un-sequenced gaps on human chromosome 20 using a methodological approach involving Sanger sequencing, mate-pair paired-end high-throughput sequencing and chromatin and methylation analysis. We found histone H3K27me3 to be distributed across all three gaps in immortalized B-lymphocytes. We found five novel CpG islands in one gap to be highly hypermethylated in genomic DNA from both peripheral blood lymphocytes and human cerebellum. One of these CpG islands was differentially methylated and paternally hypermethylated. Furthermore, computational analyses predicted the presence of structured non-coding RNAs (ncRNAs) in all three chromosome 20 gaps. We verified expression for thirteen candidate ncRNAs, some of which showed tissue-specificity. Four ncRNAs expressed within the gap at DLGAP4 show elevated expression particularly in the human brain. Our data suggests that un-sequenced human genome gaps may comprise functional elements.

ORGANISM(S): Homo sapiens

PROVIDER: GSE35405 | GEO | 2012/04/17

SECONDARY ACCESSION(S): PRJNA152793

REPOSITORIES: GEO

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Sequence and expression analysis of human chromosome 20 gaps

Project description:The finished human genome-assemblies comprise several hundred un-sequenced euchromatic gaps, which may be rich in long polypurine/polypyrimidine stretches. Human chromosome 20 currently has three remaining un-sequenced gaps on its q-arm. All three gaps are within gene-dense regions, or overlap loci associated with human disorders, including one gap, which is at DLGAP4. In this study we sequenced, determined the complete sizes and assessed epigenetic landscapes of all three un-sequenced gaps on human chromosome 20 using a methodological approach involving Sanger sequencing, mate-pair paired-end high-throughput sequencing and chromatin and methylation analysis. We found histone H3K27me3 to be distributed across all three gaps in immortalized B-lymphocytes. We found five novel CpG islands in one gap to be highly hypermethylated in genomic DNA from both peripheral blood lymphocytes and human cerebellum. One of these CpG islands was differentially methylated and paternally hypermethylated. Furthermore, computational analyses predicted the presence of structured non-coding RNAs (ncRNAs) in all three chromosome 20 gaps. We verified expression for thirteen candidate ncRNAs, some of which showed tissue-specificity. Four ncRNAs expressed within the gap at DLGAP4 show elevated expression particularly in the human brain. Our data suggests that un-sequenced human genome gaps may comprise functional elements. Mate-pair paired end sequencing using genomic DNA from human translocation carriers having chromosomal rearrangments of chromosomes other than chromosome 20 and chromatin, DNA methylation analysis using human peripheral blood lymphocytes and/or human cerebellum tissue. Analysis done for three remaining human chromosome 20 un-sequenced gap regions.

2012-04-17 | E-GEOD-35405 | biostudies-arrayexpress

Homo sapiens

Project description:Sequence and expression analysis of human chromosome 20 gaps

| PRJNA152793 | ENA

Closing Gaps in the Human Genome with Fosmid Resources Generated from Multiple Individuals

Project description:The published finished human genome contained 340 gaps including 250 gaps in the euchromatic region. The reasons for these gaps were not fully understood, although subsequent analysis revealed that presence of segmentally duplicated sequences were a good predictor for the presence of gaps. However, not all segmentally duplicated regions contained gaps. We made a systemic effort to close euchromatic gaps and understand the nature of gap closing sequences. Our studies clearly demonstrate that the gap closing sequences analyzed were over 2.3-fold more enriched in segmental duplications and that about 40% of the gap closing sequences were structurally variant. The structural variant nature of gap closing sequences was verified by aCGH analysis, and by paired-end-sequence and fingerprint analysis of gap spanning clones from recently available human genome fosmid libraries from eight individuals. Identification and characterization of gap closing sequences provides an effective approach for closing the remaining euchromatic gaps in the human genome. Keywords: comparative genomic hybridization

2007-12-23 | GSE9075 | GEO

Homo sapiens

Project description:Gap closure by pyrosequencing for human chromosome 15

| PRJNA196144 | ENA

Synaptic GAP and GEF Complexes Cluster Proteins Essential for GTP Signaling

Project description:GTPase-activating proteins (GAPs) and guanine exchange factors (GEFs) play essential roles in regulating the activity of small GTPases. Several GAPs and GEFs have been shown to be present at the postsynaptic density (PSD) within excitatory glutamatergic neurons and regulate the activity of glutamate receptors. However, it is not known how synaptic GAP and GEF proteins are organized within the PSD signaling machinery, if they have overlapping interaction networks, or if they associate with proteins implicated in contributing to psychiatric disease. Here, we determine the interactomes of three interacting GAP/GEF proteins at the PSD, including the RasGAP Syngap1, the ArfGAP Agap2, and the RhoGEF Kalirin. We describe the functional properties of each interactome and show that these GAP/GEF proteins are highly associated with and cluster other proteins directly involved in GTPase signaling mechanisms. We also utilize Agap2 as an example of GAP/GEFs localized within multiple neuronal compartments and determine additional interactions involving Agap2 outside of the PSD. Functional analysis of PSD and non-PSD interactomes illustrates both common and unique functions of Agap2 determined by its subcellular location.

2022-02-22 | PXD006326 | Pride

Finding missing proteins from the epigenetically manipulated human cell with stringent quality criteria

Project description:There are three major epigenetic mechanisms, DNA methylation, histone modifications, and ncRNAs. The histone is a key player in epigenetics, and the acetylation and methylation are their most common post-translational modifications (PTMs). These histone modifications have important roles in transcriptional regulation, DNA repair, DNA replication, alternative splicing and chromosome condensation. For example, we previously found that H3.3 lysine 36 trimethylation (H3.3K36me3) histone and its reader protein BS69 could work together to regulate pre-mRNA process. Therefore, in this study, we established in vitro histone acetylation, demethylation and methylation models, respectively, by using human lung, liver and colorectal cancer cells.

2022-03-02 | PXD002453 | Pride

Global identification and characterization of intermediate-size non-coding RNAs in Oryza sativa

Project description:In this study, we employed a special size fractionation and cDNA library construction method followed by 454 deep sequencing to systematically profile rice intermediate-size ncRNAs. Our analysis resulted in the identification of 1349 ncRNAs in total, including 754 novel ncRNAs of an unknown functional category. Chromosome distribution of all identified ncRNAs showed no strand bias, and displayed a pattern similar to that observed in protein-coding genes with few chromosome dependencies. More than half of the ncRNAs were centered around the plus-strand of the 5’ and 3’ termini of the coding regions. The majority of the novel ncRNAs were rice specific, while 78% of the small nucleolar RNAs (snoRNAs) were conserved. Tandem duplication drove the expansion of over half of the snoRNA gene families. Furthermore, 90% of the snoRNA candidates were shown to produce small RNAs between 20-30 nt, 80% of which were associated with ARGONAUT proteins generally, and AGO1b in particular. Overall, our findings provide a comprehensive view of an intermediate-size non-coding transcriptome in a monocot species, which will serve as a useful platform for an in-depth analysis of ncRNA functions.

2012-07-27 | GSE39695 | GEO

Global identification and characterization of intermediate-size non-coding RNAs in Oryza sativa

2012-07-27 | E-GEOD-39695 | biostudies-arrayexpress

Blastomere-specific transcriptome sequencing reveals a determinant of anterior specification in C. elegans

Project description:We sequenced amplified mRNA from 20 pooled AB and 20 pooled P1 blastomeres hand isolated from 2-cell stage C. elegans embryos three replicates each.

2015-03-05 | GSE59943 | GEO

Spo11 generates gaps through concerted cuts at sites of topological stress [dDSB]

Project description:Meiotic recombination is essential for proper meiotic chromosome segregation and fertility, and is initiated by programmed DNA double-strand breaks (DSBs) introduced by Spo11, a eukaryotic homolog of archaeal topoisomerase VIA. Here we report the discovery of hitherto uncharacterized Spo11-induced lesions, small gaps from 34 bp to several hundred bp, which are generated by coordinated pairs of DSBs (double DSBs or dDSBs). Isolation and genome-wide mapping of the resulting fragments with single base pair precision reveals enrichment at DSB hotspots but also a widely dispersed distribution covering the entire genome. We show that Spo11 prefers to cut at a sequence motif which promotes DNA bending, indicating that bendability of DNA contributes to cleavage site choice. Moreover, fragment lengths display a ~ (10.4n+3) bp periodicity, implying that Spo11 favours cleavage on the same face of underwound DNA. Consistently, dDSB signals overlap and correlate with topoisomerase II binding sites, which points to a role for topological stress and DNA crossings in break formation, and suggests a unified model for DSB and dDSB formation, in which Spo11 traps two DNA strands. Furthermore, gaps resulting from dDSBs, an estimated 20% of all initiation events, can account for full gene conversion events that are independent of both Msh2-dependent heteroduplex repair and MutLγ. Since non-homologous gap repair results in deletions, and ectopically re-integrated dDSB fragments result in insertions, dDSB formation represents a potential source of evolutionary diversity and pathogenic germ-line aberrations.

2021-06-09 | GSE171042 | GEO

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