Genome promoter regions genetic. Medical search. Frequent questions

Unexpectedly, we found that while large intergenic blocks of MacroH2A2 were stably associated with the genome, promoter-associated peaks of MacroH2A2 exhibited relatively rapid exchange dynamics in ES cells, particularly at highly-transcribed genes. (nih.gov)
Genetic variations that lie outside of any known genes can lead to disease. (nih.gov)
The vast majority of these, however, lie outside of known genes, as 98.5% of our genome doesn't code for proteins. (nih.gov)
To gain insights into these non-coding regions, a team of scientists partly supported by NIH's National Human Genome Research Institute (NHGRI) carried out a genome-wide survey of epigenetic marks - factors that change the way genes are read, or expressed, without changing the DNA sequence itself. (nih.gov)
Three chromatin states were associated with regulatory regions known as promoters, which sit close to genes and allow them to be read. (nih.gov)
Four chromatin states were associated with regions known as enhancers, which act at a distance and are not always easy to tie to particular genes. (nih.gov)
For example, active promoter states in skeletal muscle were associated with extracellular structure genes, while active promoter states in lymphoblastoid cells were associated with immune response genes. (nih.gov)
Promoters active in both cells types were associated with general metabolism genes. (nih.gov)
To connect enhancer regions to likely target genes, the researchers compared patterns of chromatin activity with gene expression across the 9 cell types. (nih.gov)
TFOs bind specifically to homopurine-homopyrimidine regions that are often common in promoter and intron sequences of genes, influencing cell signaling. (wikipedia.org)
SNPs may also have functional consequences if they affect coding or regulatory (usually promoter) regions of genes. (medscape.com)
Information accumulated from numerous studies on the association between cancer risk and SNPs in selected candidate genes may shed light on the molecular and genetic basis of the polygenic nature of cancer. (medscape.com)
Effective promoters, required to regulate expression of transgenes, such as the elongation factor 1-alpha (ef-1a), have been identified in a related B. bovis 1.4 kb genomic region separating two identical elongation factor 1-alpha (ef-1a) genes, and in other apicomplexans such as Plasmodium falciparum. (usda.gov)
Results: The ef-1a locus, contains two identical head to head ef-1a genes separated by a 1,425 Kb intergenic (IG) region. (usda.gov)
Regardless of this, several structural similarities occur among the B. bovis and B. bigemina IG regions, including an almost identical length (1424 vs. 1425 bp), the presence of inverted repeats in each of the 5' and 3' ends, and introns present in each 5' untranslated region of both ef-1a genes. (usda.gov)
Significant sequence divergence in the regions upstream of the inverted repeats (IR) on each side of the B. bigemina IG region suggest independent regulation mechanisms for controlling expression of each of the two ef-1a genes. (usda.gov)
Regarding genetic stability, both genes segregate according to Mendelian rules of inheritance for a single genetic locus. (fao.org)
Co-localisation analyses across genetic effects on DNA methylation and 56 human traits identify 1520 co-localisations across 1325 unique CpGs and 34 phenotypes, including in disease-relevant genes, such as USP1 and DOCK7 (total cholesterol levels), and ICOSLG (inflammatory bowel disease). (biomedcentral.com)
A large number of putative cis-regulatory sequences have been annotated in the human genome, but the genes they control remain poorly defined. (duke.edu)
To bridge this gap, we generate maps of long-range chromatin interactions centered on 18,943 well-annotated promoters for protein-coding genes in 27 human cell/tissue types. (duke.edu)
The primary units of genetic control are called enhancers, which are regions of DNA that can physically interact with proteins and other sections of DNA called promoters to activate genes. (nih.gov)
In addition, family-based studies have led to the identification of rare genetic variants in genes related to surfactant function and telomere biology, and mechanistic studies suggest pathophysiological derangements associated with these rare genetic variants are also found in sporadic cases of IPF. (ersjournals.com)
Rare genetic variants in eight genes have been implicated in familial interstitial pneumonia, the familial form of IPF, which broadly fall into two categories: genes related to surfactant protein processing and trafficking, and those linked to telomere biology. (ersjournals.com)
Previous large-scale genome-wide association studies (GWAS) have indicated that a large number of genes influence height, and suggested that the majority of heritability comes from common genetic variants, not rare ones. (sciencedaily.com)
Many of the 697 height-related genetic variants were located near genes known to be involved in growth, but there were also plenty of surprises. (sciencedaily.com)
Genome-wide maps reveal that Iss1 accumulates at genes regulated by RNA surveillance. (nih.gov)
The researchers explored whether the variants might regulate AMD-relevant genes, possibly at promoters, which are sequences within DNA that turn genes on, or enhancers, which increase the activity of promoters. (nih.gov)
Computational methods allowed the researchers to detect patterns between the genes expressed in the retina and a pool of more than 9 million previously identified genetic variants. (nih.gov)
Second, we revealed the phase-specific chromatin accessibility signatures at the promoter regions of a large set of critical transcription factors and signaling pathway genes. (nature.com)
One of the most severe limitations is that nature hasn't provided enough genetic variation for breeders to work with, especially for the major yield traits that can involve dozens of genes. (cabi.org)
The team's experiments, published in the journal Cell , involve using CRISPR "scissors" to make multiple cuts within three tomato genome sequences known as a promoters - areas of DNA near associated genes which help regulate when, where, and at what level these "yield" related genes are active during growth. (cabi.org)
By using CRISPR to mutate regulatory sequences - the promoters of relevant "yield" genes rather than the genes themselves - the CSHL team finds that they can achieve a much subtler impact on quantitative traits. (cabi.org)
Foxo3, by binding to the promoter of various genes across the genome, regulates a wide array of processes that confer cell resilience and healthy aging. (databasefootball.com)
The first author of the study, Tim Donlon, further discovered that the interaction of FOXO3 with its neighboring genes involved CCCTC-binding factor zinc finger protein (CTCF), a transcription factor that binds promoters, so attracting tissue-specific transcriptional activators, repressors, cohesion, and RNA polymerase II. (databasefootball.com)
Nucleosome occupancy (white corresponding to large occupancy values) for the 2000 shortest S. Cerevisiae genes ordered by increasing length from top to bottom and aligned on the promoter (null distance). (ens-lyon.fr)
Data showed that hyper-accessible regions in ESCC cells contained genes related with cancer hallmarks, such as epidermal growth factor receptor (EGFR). (frontiersin.org)
These included an inability to analyze approximately half of all coding genes, copy number variants, (CNVs), and non-coding regions such as miRNAs, lincRNAs, promoter regions and other non-coding elements. (neurodegenerationresearch.eu)
The overall goal of this proposal is to identify novel genes associated with familial ALS through whole genome sequencing of patients. (neurodegenerationresearch.eu)
In order to identify the genome-wide effects of DNA methylation in E. histolytica , we used a short oligonucleotide microarray representing 9,435 genes (~95% of all annotated amebic genes) and compared the expression profile of E. histolytica HM-1:IMSS parasites with those treated with 23 μM 5-AzaC for up to one week. (biomedcentral.com)
Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (nih.gov)
Genes whose promoters are involved in PAIs are more actively expressed, and gene pairs with promoter-promoter interactions are enriched for co-expression. (ox.ac.uk)
Differentially methylated regions particularly included genes involved in developmental processes, with hox clusters featuring prominently. (authorea.com)
Analysing the flanking sequences surrounding genes of interest is often highly relevant to understanding the role of mobile genetic elements (MGEs) in horizontal gene transfer, particular for antimicrobial resistance genes. (sachecucine.it)
Analysing the flanking sequences surrounding genes of interest is often highly relevant to understanding the role of mobile genetic elements (MGEs) in horizontal …Flanking sequences from approximately half of these insertions correspond to the IAAH gene. (sachecucine.it)
Prophage have been identified in most sequenced bacterial genomes, however the effects of prophage genes on the host are poorly understood. (edu.au)
Genes with T-DMRs, especially those lacking CpG islands and those with HNF-1A binding motifis in their promoters, showed good correlation between their tissue-specific expression and liver hypomethylation status. (elsevierpure.com)

However, no study has been performed to investigate the relationship between the genetic variants in promoter region of MALAT1 and colorectal cancer risk. (nih.gov)
In this study, we conducted a two-stage case-control study to evaluate whether MALAT1 genetic variants were associated with colorectal cancer risk. (nih.gov)
Confirmation studies with large sample size and further mechanistic investigations into the function of MALAT1 and its genetic variants are warranted to advance our understanding of their roles in colorectal carcinogenesis, and to aid in the development of novel and targeted therapeutic strategies. (nih.gov)
Non-coding genetic variants can influence cellular phenotypes by modifying higher-order transcriptional hubs and consequently gene expression. (nih.gov)
Here, we extend a pulse-chase strategy for carrying out genome-wide measurements of histone dynamics to several histone variants in murine embryonic stem cells and somatic tissues, recapitulating expected characteristics of the well characterized H3.3 histone variant. (nih.gov)
[ 6 ] Many SNPs are silent, with no direct effect on gene products, but by virtue of linkage disequilibrium existing across the human genome they can be used as genetic markers to locate nearby functional variants that contribute to disease. (medscape.com)
Recent studies have identified common and rare genetic variants associated with both sporadic and familial forms of pulmonary fibrosis. (medscape.com)
Recently, several large genome-wide association and linkage studies have identified common genetic variants in more than a dozen loci that appear to contribute to IPF risk. (ersjournals.com)
Genome-wide association studies have identified more than a dozen common genetic variants associated with idiopathic pulmonary fibrosis (IPF) risk, and may be linked to altered disease progression and survival. (ersjournals.com)
Genetic Variants of lncRNA MALAT1 Exert Diverse Impacts on the Risk and Clinicopathologic Characteristics of Patients with Hepatocellular Carcinoma. (cdc.gov)
Now, by doubling the number of people in our study, we have a much more complete picture of how common genetic variants affect height -- how many of them there are and how much they contribute. (sciencedaily.com)
They checked about two million common genetic variants (those that showed up in at least 5 percent of their subjects). (sciencedaily.com)
In 2007 we published the first paper that identified the first common height gene, and we have now identified nearly 700 genetic variants that are involved in determining height," says co-senior investigator Timothy Frayling, PhD, of the University of Exeter, U.K. "We believe that large genetic studies could yield similarly rich lists in a variety of other traits. (sciencedaily.com)
While genome wide association studies (GWAS) serve as a tool to discover genetic loci associated with neuropsychiatric diseases, unfortunately GWAS do not directly detect structural variants such as TEs. (nih.gov)
Previously, Swaroop and colleagues had compared populations of people with and without AMD and identified 34 small genomic regions -called loci-and 52 genetic variants within these loci that were significantly associated with AMD. (nih.gov)
However, as with other common and complex diseases, most of the variants turned out not to be present in protein-coding regions of the genome, leaving us to wonder how they were having a biological effect on AMD," said Swaroop. (nih.gov)
To search for the genetic variants regulating gene expression in the retina, they used expression quantitative trait loci (eQTL) analysis. (nih.gov)
So far most studies in AMD have focused on analyses of genetic variants in DNA. (nih.gov)
Furthermore, VELs are enriched in haplotype blocks containing colon cancer genetic risk variants, implicating these genomic regions in colon cancer pathogenesis. (nih.gov)
Further, we investigated the impact of genetic variants on epigenomic signals and gene expression. (inrae.fr)
Genetic analysis of these variants identified mutations within the immunity region of the Pf4 prophage genome. (edu.au)
The proposed modelinvolves oxidative stress induced mutations within the repressor C region of the prophage andlead to selection for variants that are resistant against superinfective phage. (edu.au)

The scientists assessed chromatin states across 9 different cell types by mapping the locations across the genome of several epigenetic modifications to DNA, such as methylation and acetylation. (nih.gov)
Pinpointing genetic impacts on DNA methylation can improve our understanding of pathways that underlie gene regulation and disease risk. (biomedcentral.com)
Multiple studies have shown that genetic effects have considerable impacts on DNA methylation levels at specific CpGs. (biomedcentral.com)
Most studies typically associate genetic variation at single nucleotide polymorphisms (SNPs), or methylation quantitative trait loci (meQTLs), to DNA methylation levels at a specific CpG. (biomedcentral.com)
The most recent Illumina methylation array, the Infinium MethylationEPIC BeadChip (EPIC), improves genomic coverage of enhancers which are key regulatory regions. (biomedcentral.com)
Accordingly, there is a need for follow-up analyses to identify new genetic influences on DNA methylation levels profiled by the EPIC array. (biomedcentral.com)
Here, we profiled the genome-wide DNA methylation and chromatin accessibility of human FGCs at different phases as well as gonadal niche cells at single-cell resolution. (nature.com)
Such epigenetic changes, including alterations in transcriptome and DNA methylome, have been revealed by genome-wide RNA transcripts and CpG site methylation tests ( 1 - 3 ). (frontiersin.org)
This work represents the first genome-wide analysis of DNA-methylation in Entamoeba histolytica and indicates that DNA methylation has relatively limited effects on gene expression in this parasite. (biomedcentral.com)
The role of methylation in adaptive, developmental and speciation processes has attracted considerable interest, but interpretation of results is complicated by diffuse boundaries between genetic and non-genetic variation. (authorea.com)
We studied whole genome genetic and methylation variation in the European eel, distributed from subarctic to subtropical environments, but with panmixia precluding genetically based local adaptation beyond single-generation responses. (authorea.com)
Overall methylation was 70.9%, with hypomethylation predominantly found in promoters and first exons. (authorea.com)
Whereas the genetic data are consistent with a role of single-generation selective responses, the methylation results underpin the importance of epigenetics in the life cycle of eels and suggests interactions between local environments, development and phenotypic variation mediated by methylation variation. (authorea.com)
R. C. Laker and J. G. Ryall present recent advances in our knowledge of the role of DNA methylation and hydroxymethylation in skeletal muscle stem cells, with an emphasis on recent whole genome sequencing results that show genomic enrichment for these modifications outside promoter regions and underscore their plastic role in sensing environmental cues. (hindawi.com)
Using whole genome bisulphite sequencing of DNA from the livers of five mice from the A vy colony, we searched for sites at which DNA methylation differed among the mice. (researchgate.net)
DNA methylation constitutes an important epigenetic regulation mechanism in many eukaryotes, although the extent of DNA methylation in the regulation of gene expression in the mammalian genome is poorly understood. (elsevierpure.com)
We developed D-REAM, a genome-wide DNA methylation analysis method for tissue-dependent and differentially methylated region (T-DMR) profiling with restriction tag-mediated amplification in mouse tissues and cells. (elsevierpure.com)

Genetic information in humans is encoded in 23 chromosome pairs, where one pair consists of two slightly different copies or homologs. (sciencedaily.com)
In contrast to DSB maps in mice and humans, we detected multiple extended regions with elevated DSB formation outside of hotspots, and these "recombination domains" are primarily at the ends of chromosomes, are enriched in CpG islands, have a high GC content, are conserved among individuals and exhibited a significantly elevated recombination rate. (nih.gov)
Small founder populations and selective breeding have resulted in long regions of linkage disequilibrium (LD) within breeds-over 1 Mb-while across breeds LD is much shorter, more similar to that seen in humans 2 , 3 . (nature.com)
Similar to within-breed genome-wide association studies (GWAS) in the dog, there are many studies of complex-disease GWAS in humans using cohorts of related individuals, which are relatively robust (for example, ref. 10 ). (nature.com)

Nearly all colorectal tumors (CRC) harbor genetic mutations that lead to the hyperactivation of β-catenin signaling. (lifeboat.com)
In this way generating multiple sets of mutations within each of these regulatory regions, the scientists were able to induce a wide range of changes in each of the three targeted traits. (cabi.org)
Furthermore, the decrease in parasite virulence was reversible upon removal of the drug, indicating that drug exposure likely did not cause significant permanent mutations in the E. histolytica genome sequence [ 15 ]. (biomedcentral.com)
Next generation sequencing analysis allowed to identify previously unrecognized hot spot mutations in coding and regulatory regions of human genome. (longdom.org)
Hot spot mutations in the promoter region of the telomerase reverse transcriptase gene (TERT) have been identified in several tumor types and have been found associated with specific pathological features and poor prognosis. (longdom.org)
The rs2853669 SNP in some tumors has shown to modulate the expression induced by TERT promoter mutations. (longdom.org)
To determine the frequency and the role of these mutations and rs2853669 SNP in TERT promoter region among HPV-related cancers at different body sites, we have analyzed 244 tumors including penile cancer, cervical carcinoma and head and neck cancer. (longdom.org)
Activating mutations in TERT promoter were detected in 30.4% of penile cancers and 26.1% of cervical cancer. (longdom.org)
We found no association between TERT promoter mutations and the rs2853669 polymorphism in HPV-related genital tumors. (longdom.org)
In conclusion, mutations in TERT promoter represent a frequent event in specific subgroups of HPV-related genital cancers. (longdom.org)
These findings raise the possibility that TERT expression in HPV-positive cancers may be activated either by the expression of E6 and E7 HPV oncogenes or by activating mutations in TERT promoter region. (longdom.org)
The mutations were identified to lie within the putative repressor c gene of the prophage and the putative promoter of the gene. (edu.au)
The majority of the mutations were within the prophage genome at a frequency of up to 79% in contrast to mutations atless than 7% within the PAO1 genome. (edu.au)
Collectively, these results suggest a role of the repressor C in superinfective phage conversion and strong selection for mutations within the immunity region of the phage to facilitate adaptation to biofilm lifecycle in the presence of phage infection. (edu.au)
A number of recent studies have demonstrated that mutations in non-coding regions may have direct tumorigenic effects or lead to genetic instability. (frontiersin.org)
Mutations cause changes in the genome that can impact the phenotype in a positive, negative, or neutral way. (coursehero.com)
That creates a chance of 450 spontaneous mutations every time the genome is replicated. (coursehero.com)
Mutations in genome replication of S. aureus resulted in the mecA gene. (coursehero.com)

Sequence comparisons among the B. bovis and B. bigemina ef-1a loci shows high homology in the ef-1a open reading frames (ORFs), but sequences in their IG regions differ significantly. (usda.gov)
RCMC involves linking together regions of DNA that are close in the genome, selecting specific genetic sequences in areas of interest, and sequencing the DNA around those areas to find out what other parts of the genome interact with those targeted regions. (nih.gov)
Targeting genetic sequences of interest allows high-resolution results at lower cost compared to previous techniques that survey the whole genome, and the authors showed that RCMC revealed contacts between parts of the genome that other methods missed. (nih.gov)
Studies have largely focused on coding sequences and promoters, even though distal regulatory elements play a central role in controlling transcription patterns. (nih.gov)
It makes contact with tens of thousands of sites across the genome by using different combinations of its 11 zinc finger domains to bind different DNA target sequences and proteins. (databasefootball.com)
However, over 50% of the human genome consists of widely dispersed repetitive sequences. (mdpi.com)
Each plasmid encodes four non-overlapping single-guide RNAs (sgRNAs), each driven by a unique housekeeping promoter, as well as lentiviral and transposable vector sequences. (biorxiv.org)
In this study, the T-DNA insertion sites and flanking sequences were identified in two newly developed transgenic glyphosate-tolerant soybeans GE-J16 and ZH10-6 based on whole genome sequencing (WGS) method. (sachecucine.it)
Second, we highlight the importance and potential of complete or 100% genome sequencing, i.e., the ability to sequence highly repetitive non-coding sequences beyond the reach of current NGS technologies. (frontiersin.org)

2012 . An integrated map of genetic variation from 1,092 human genomes. (nih.gov)
Her findings on invertible promoter mediate bacterial phase variation, antibiotic resistance, and host adaptation in the gut were published in Science (2019). (nih.gov)
The role of rare variation in FAM13A,TERT and RTEL1 gene regions was implicated in the risk of IPF. (medscape.com)
Association study of genetic variation of lncRNA MALAT1 with carcinogenesis of colorectal cancer. (cdc.gov)
The study also narrows down the genomic regions that contain a substantial proportion of remaining variation -- to be discovered with even larger sample sizes," adds co-senior investigator Peter Visscher, PhD, of the University of Queensland, Australia. (sciencedaily.com)
Height is easy to measure, and an estimated 80 percent of variation in height is genetic. (sciencedaily.com)
Importantly, the ability to define how genetic variation affects gene expression opens up entirely new directions for looking at the biology of the eye," Swaroop said. (nih.gov)
Our lab has now used CRISPR technology to generate novel genetic variation that can accelerate crop improvement while making its outcomes more predictable. (cabi.org)
What we demonstrated with each of the traits," explains Lippman, "was the ability to use CRISPR to generate new genetic and trait variation that breeders can use to tailor a plant to suit conditions. (cabi.org)
Fine-tuning gene expression rather than deleting or inactivating the proteins they encode is most likely to benefit commercial agriculture because of the flexibility such genetic variation provides for improving yield traits. (cabi.org)
Lippman and his team have now shown that CRISPR-generated QTL can be combined with existing QTL to create "toolkits" of genetic variation that exceed what is found in nature. (cabi.org)
Meiotic recombination is a fundamental process to generate genetic variation in most eukaryotes. (nih.gov)
High resolution copy number variation data in the NCI-60 cancer cell lines from whole genome microarrays accessible through CellMiner. (nih.gov)
Current disease-mapping efforts that are focused on single breeds miss much of the genetic variation underlying breed risk that is partitioned across breeds and that may underlie striking differences in disease prevalence across breeds. (nature.com)
The identified epigenetic regulation and genetic variation will be validated by CRISPR and TALE-TET1 genome editing techniques. (aporc.org)
Facilitating this deep analysis of genetic variation has been the stunningly fast advance of technology. (aacc.org)

Genome-wide association studies involve scanning the genomes of many people to link single differences in DNA sequence, called single nucleotide polymorphisms (SNPs), with specific diseases or traits. (nih.gov)
designed a sequence-specific TFO to the Ets2 promoter sequence that down-regulated the gene expression and led to a slowing of cell growth and cell death. (wikipedia.org)
have also presented a TFO targeting the promoter sequence of bcl-2, a gene inhibiting apoptosis. (wikipedia.org)
Noroviruses (NoV) are divided into 5 genogroups (I-V) based on genome sequence ( 1 ). (cdc.gov)
When further modeling DNA as a semifexible polymer explicitly taking into account the structural disorder induced by the sequence, we have provided some evidence that the observed LRC favor the spontaneous formation as well as the cooperative positioning of nucleosomes along the chromosomes including the nucleosome free regions experimentally observed at gene promoters (see figure below). (ens-lyon.fr)
Note that the organization of the nucleosomal assembly results from the confinement of nucleosomes between sequence induced high energy barriers corresponding to the nucleosome free regions observed at the promoters and gene ends. (ens-lyon.fr)
Moreover, given that transcription factors bind to DNA in a sequence-specific manner by removing or moving the nucleosomes to form open chromatin, mapping hyper-accessible regions in cancer cell genome provides information regarding onco-transcription and pioneering factors ( 5 ). (frontiersin.org)
2015).These newly discovered genetic polymorphisms could therefore increase discrimination power …SiteFinding-PCR is a method for isolating flanking sequence tags (FSTs) of T-DNA insertion lines, but the efficiency needs to be improved. (sachecucine.it)
A spontaneous mutation is a change in the genetic sequence that occurs randomly and without external influence. (coursehero.com)
We will be decades from now still interpreting and reinterpreting the human genome sequence like a great novel. (aacc.org)
The Human Genome Project, which produced the first draft whole genome sequence, had, by the time it concluded in 2003, largely addressed the first domain, understanding the structure of the genome, and between 2004-2010, much about the biology of genomes was elucidated. (aacc.org)
We also have to manage expectations in realizing it's going to be many years in going from the most basic information about our human genome sequence to actually changing medical care in any serious way," he predicted. (aacc.org)

Two of the 9 independent recombinant NoV were closely related to other recombinants only in the polymerase region, and in a similar fashion 1 recombinant NoV was closely related to another only in the capsid region. (cdc.gov)
The first ORF (ORF1) encodes a polypeptide with regions of similarity to helicase, cysteine proteinase, and RNA-dependent RNA polymerase (RdRp)-encoding regions of picornaviruses ( 5 ). (cdc.gov)
A recombinant NoV can be defined as one that clusters with 2 distinct groups of NoV strains when 2 different regions (normally the capsid and polymerase) of the genome are subjected to phylogenetic analysis. (cdc.gov)
By modeling with the use of the WashU Genome Browser they found that these SNPs were connected to the FOXO3 promoter via RNA II polymerase binding and likely formed a longevity-associated haplotype or cis -regulatory unit. (databasefootball.com)
Overall design: Here, we generated genome-wide profiling of five histone modifications and RNA polymerase II occupancy using an enhanced chromatin immunoprecipitation (eChIP) approach. (inrae.fr)

Aside from chromatin disruption linked to fundamental processes such as gene transcription, the dynamic nature of chromatin is indicated by the phenomenon of position-effect variegation (PEV), fluorescence recovery after photobleaching (FRAP) experiments, and more recent whole-genome biochemical analyses performed as part of the ENCODE project. (orentreich.org)

The team led by molecular biologist Dr. Silvia Prieler and bioinformatician Dr. Doris Chen mapped the liberated fragments across the entire yeast genome with single nucleotide precision, better than DSBs had ever been mapped before. (sciencedaily.com)
In a case-control genetic study of 110 single nucleotide polymorphisms (SNPs) in FOXO3 and 5 kb of its flanking DNA, they found 41 SNPs that were associated with longevity, defined as living to 95 years of age or older. (databasefootball.com)

The data demonstrate the existence of two distinct promoters with homologous and heterologous promoter function in B. bigemina and Babesia bovis which is described for the first time in Babesia species. (usda.gov)
The random assortment of parental chromosomes together with the exchange of genetic material between homologous chromosomes during early meiosis, account for genetic diversity in the offspring. (sciencedaily.com)
By using the homologous copy as a template, the breaks are repaired and genetic information is exchanged between chromosomes. (sciencedaily.com)

All participants were enthusiastic about the potential of the ENCODE approach to translate genetic and epigenetic information into plausible functional roles for disease-associated genomic regions. (nih.gov)
From these 76 polymorphic TEs we identify causal candidates based on having insertions in genomic regions of regulatory chromatin and on having associations with altered gene expression in brain tissues. (nih.gov)

Scientists have previously created methods to detect associations between regions of the genome, but these methods do not do so at a fine enough scale to track interactions between individual enhancers and promoters. (nih.gov)
These microcompartments, which form through an unknown mechanism that may involve 'sticky' regions of DNA condensing together, seem to bring together many enhancers and promoters. (nih.gov)
It is because of the complexity of transcriptional events, which may be a mixture of epigenetic regulation and genetic control on function regions (e.g., enhancers and promoters). (aporc.org)

In addition, integrative multi-level analyses of multi-modal data containing distinct biological information may facilitate identification and prioritization of potential genetic targets for drug discovery for these psychiatric disorders. (nih.gov)
Detailed analyses of promoter activities further showed that BoGH3.13-1 is expressed in tapetal cells and pollens in anther, and also expressed in leaf primordia and floral abscission zones. (biomedcentral.com)
CHEK2 genomic and proteomic analyses reveal genetic inactivation or endogenous activation across the 60 cell lines of the US National Cancer Institute. (nih.gov)

The classical genetic code maps nucleotide triplets to amino acids. (mdpi.com)

5] Genome-wide association studies have reported IPF-associated genetic loci that are implicated in diverse biological processes including alveolar cell stability, host defense, cell-cell barrier function, and cell senescence. (medscape.com)
For many canine complex diseases, however, genetic risk is likely determined by numerous loci with small individual effect sizes, and thus larger sample sizes are required for successful association mapping. (nature.com)
Strong artificial selection for breed-defining morphological phenotypes has likely increased the prevalence of large-effect loci for these traits, and stereotyped the traits within breeds, making breed mapping particularly powerful for identifying genetic associations. (nature.com)
A small number of loci, 356, were detected and we call these inter-individual Differentially Methylated Regions, iiDMRs, 55 of which overlap with endogenous retroviral elements (ERVs). (researchgate.net)

These data have the potential to help in explaining the biological mechanisms underlying the genetic associations identified in genome-wide association studies (GWAS), and to illuminate many fundamental aspects of gene expression. (nih.gov)

Over 90% of dog hotspots are observed at constitutive H3K4 trimethylation marks including gene promoters, and DSB formation appears to be at CpG islands. (nih.gov)

Other chromatin states correspond to insulators, which also help regulate active and repressed regions. (nih.gov)
Promoters are genetic elements that regulate the level of transcription. (sciencedaily.com)
Further motif analysis and pharmacological data suggested that AP-1 family transcription factors were able to bind the hyper-accessible regions and thus to regulate cancer cell proliferation and migration. (frontiersin.org)

The scientists found that regulatory regions vary greatly in activity depending on the cell type. (nih.gov)
In combination with transfection technology, B. bigemina gene regulatory regions need to be identified. (usda.gov)
Many of the genetic signals contributing to disease risk are enriched in non-coding regulatory regions of the human genome. (nih.gov)
Large-scale efforts, such as the Encyclopedia of DNA Elements ( ENCODE ) Project, the Roadmap Epigenome Mapping Consortium ( REMC ), and the International Human Epigenome Consortium ( IHEC ) provide evidence that active regulatory regions and non-coding transcripts are often cell- and tissue-specific. (nih.gov)
Also, a large proportion of ESCC-associated SNPs located at regulatory regions other than exon have been found to control target gene transcription ( 4 ). (frontiersin.org)
Here, we developed a comprehensive database of human transcriptional regulation of lncRNAs ( TRlnc, http://www.licpathway.net/TRlnc ), which aims to collect a large number of available resources of transcriptional regulatory regions of lncRNAs, and to annotate and illustrate their potential roles in the regulation of lncRNAs in cell type-specific manner. (liclab.net)
The 'search result' page shows lncRNA general information, the number of lncRNA associated regulatory regions and the statistics about (epi) genetic information in transcriptional regulatory regions. (liclab.net)
Besides the general details about the lncRNA, TRlnc shows the information of transcriptional regulatory regions including: I. Promoter region (genomic position), II. (liclab.net)
Chromatin accessibility region (Linking strategies, genomic position, Sample name, Source), Notably, the more detailed annotation information within transcriptional regulatory regions are listed. (liclab.net)
The 'search result' page shows TF general information, the statistics of (epi) genetic information in transcriptional regulatory regions and the network of TF associated lncRNAs in cell type-specific manner. (liclab.net)
The 'search result' page shows SNP general information, the network of SNP associated lncRNAs and the statistics of lncRNA associated regulatory regions. (liclab.net)

Genome-wide computational analysis of dioxin response element location and distribution in the human, mouse, and rat genomes. (nih.gov)
The human, mouse, and rat genomes were computationally searched for all DRE cores. (nih.gov)
In addition to providing a detailed genomic map of all DRE cores in the human, mouse, and rat genomes, these data will further aid the elucidation of AhR-mediated signal transduction. (nih.gov)
A growing body of data, arising from genome-wide analysis of transcription, chromatin organization, and epigenetic marks, has been widely interpreted as defining functional elements in the human genome. (nih.gov)
The Encyclopedia of DNA Elements ( ENCODE ) Project, sponsored by the National Human Genome Research Institute (NHGRI), and the NIH Common Fund Epigenomics Program have both contributed to a growing catalogue of functional elements in the human genome. (nih.gov)
Each human gamete contains one of billions of possible combinations of the genetic information they inherit from their parental cells. (sciencedaily.com)
The chairs of the workshop I want to thank are Drs. Mustafa Sahin from Boston Children's Hospital, Guangping Gao from the University of Massachusetts, Sitra Tauscher-Wisniewski from Novartis Gene Therapies, Beverly Davidson from Children's Hospital of Philadelphia, Cynthia Tifft from National Human Genome Research Institute and Terrance Flotte from University of Massachusetts. (nih.gov)
Scholars@Duke publication: A compendium of promoter-centered long-range chromatin interactions in the human genome. (duke.edu)
Integrative analysis of these promoter-centered interactome maps reveals widespread enhancer-like promoters involved in gene regulation and common molecular pathways underlying distinct groups of human traits and diseases. (duke.edu)
The NIEHS and NTP have been focusing efforts on an exposure biology program and trying to understand exposures related to environmentally induced diseases while other institutes have been focusing on human genetics to identify the genetic variance that might provide susceptibility to disease. (nih.gov)
The purpose of this limited competition Funding Opportunity Announcement (FOA) and the companion FOA is to seek applications to explore and establish a comprehensive landscape of multi-modal molecular alterations across brain regions, leveraging existing human brain collections that include the brains of patients with psychiatric disorders, with the goal of developing molecular models of those disorders. (nih.gov)
We show that lead candidate insertions have regulatory effects on gene expression in human neural stem cells altering the activity of a minimal promoter. (nih.gov)
Deploying a multi-scale strategy of sharp upwardjump detection in noisy skew profiles, we have identified more than 1000 putative master origins of replications that are central to the Human genome organization. (ens-lyon.fr)
Our findings has provided a new model of gene organization in the human genome, which integrates transcription, replication, and chromatin structure as coordinated determinants of genome architecture. (ens-lyon.fr)
As demonstrated by the ENCODE project and others in recent years, these genetic components have been increasing shown to be of vital importance in cellular regulation and human disease. (neurodegenerationresearch.eu)
Like in human males, dog DSB maps exhibit a strong bias toward subtelomeric regions, suggesting that a conserved mechanism may modulate DSB formation at chromosome ends in both species. (nih.gov)
Using a novel high-fidelity liquid-phase plasmid cloning technology, we generated two human genome-wide arrayed libraries termed T.spiezzo (gene ablation, 19,936 plasmids) and T.gonfio (gene activation and epigenetic silencing, 22,442 plasmids). (biorxiv.org)
The sgRNAs were designed to tolerate most DNA polymorphisms identified in 10,000 human genomes, thereby maximizing their versatility. (biorxiv.org)
The first cancer exomes were sequenced soon after the completion of the Human Genome Project in 2001. (frontiersin.org)
The current version of TRlnc contains 8,683,028 typical enhancers/super-enhancers and 32,348,244 chromatin accessibility regions associated with 91,906 human lncRNAs. (liclab.net)
These regions were identified from over 900 human H3K27ac ChIP-seq, ATAC-seq and DNase-seq samples. (liclab.net)
We find ourselves today with a tremendous amount of data, remarkably powerful technologies, and increasingly golden opportunities to use genomics in ways to improve medical care and eventually to think about better approaches to treat patients with all sorts of different types of disease," said Eric Green, MD, PhD, director of the National Human Genome Research Institute (NHGRI), which is part of the National Institutes of Health (NIH). (aacc.org)
I would tell you quite candidly we have at best a Cliff Notes view of the human genome. (aacc.org)

Abnormal genetic and epigenetic modifications play a key role in esophageal cancer. (frontiersin.org)

During her postdoctoral training, she developed tools to annotate mobile genetic elements from the gut microbiome and identify phase variable regions in bacterial genomes. (nih.gov)

J:208882 FANTOM Consortium and the RIKEN PMI and CLST (DGT) and others, A promoter-level mammalian expression atlas. (jax.org)

Whole genome resequencing of two mice from the colony identified very few differences and these did not occur at or near the iiDMRs. (researchgate.net)

Genome Biology and Evolution , 3 , 66-74. (duke.edu)
The development of genetic manipulation tools necessary to the better understanding of parasite biology is currently limited by the lack of a complete parasite genome and experimental tools such as transfection. (usda.gov)
As we evolve from a system of diagnosis based on histopathology to one based on a specific genetic/genomic signature reflecting the fundamental biology of the disease, there will be unique opportunities to develop and test therapies in specific patient populations based on the molecular profiles. (ersjournals.com)
The study, from the international Genetic Investigation of Anthropometric Traits (GIANT) Consortium, provides a better glimpse at the biology of height and offers a model for investigating traits and diseases caused by many common gene changes acting together. (sciencedaily.com)

In this protocol chapter we describe our work using episomal vectors where expression of a cDNA is controlled by a 10 kB piece of genomic DNA encompassing the promoter of the low density lipoprotein receptor. (ox.ac.uk)

We provide evidence to support the theory of the role of subgenomic RNA promoters as recombination hotspots and describe a simple mechanism of how recombination might occur in NoV. (cdc.gov)
The genetic relationship among all identified recombinants was explored and the recombination breakpoint accurately determined. (cdc.gov)
Thus, to investigate the mechanism of recombination in the absence of PRDM9, we built high-resolution and genome-wide maps of meiotic DSBs in three individual dogs. (nih.gov)
Together, our genome-wide recombination maps in dog males provide new insights into the regulation of meiotic recombination without Prdm9. (nih.gov)

Top candidate genetic elements will be further evaluated by targeted sequencing of an independent replication cohort of >300 FALS and ~10,000 controls. (neurodegenerationresearch.eu)
Genome-wide depletion of replication initiation events in highly transcribed regions. (nih.gov)

The pool of DNA fragments of 60-120 bp long generated from the nucleosome-free regions (NFR) or of ~150-bp increments generated from the nucleosome-containing chromatin (NCC) is collected and followed by NGS. (frontiersin.org)

Gene-encoding intragenic DNA regions had ∼1.6 times more putative DREs than the noncoding intergenic DNA regions. (nih.gov)

Height is almost completely determined by genetics, but our earlier studies were only able to explain about 10 percent of this genetic influence," says Joel Hirschhorn, MD, PhD, of Boston Children's Hospital and the Broad Institute of MIT and Harvard, leader of the GIANT Consortium and co-senior investigator on the study. (sciencedaily.com)
Control samples will include a minimum of 7,500 whole genomes to be sequenced by the international Project Mine consortium. (neurodegenerationresearch.eu)
International Cancer Genome Consortium. (cancerindex.org)

CRISPR-Cas9 is a recently developed and powerful tool for editing genomes. (cabi.org)

This study for the first time leverages transcriptional (RNA) data to expand on the genetic architecture of AMD," said Rinki Ratnapriya, Ph.D., who worked on the study as an NEI research fellow and is currently at Baylor College of Medicine in Houston. (nih.gov)
Promoter-anchored chromatin interactions (PAIs) play a pivotal role in transcriptional regulation. (ox.ac.uk)
Refinement of promoter regions using open chromatin and H3K4me3-marked regions provided insight into transcriptional regulation. (inrae.fr)
Users can search transcriptional regulatory information of lncRNAs through five paths, including 'Search by lncRNA' (input lncRNA name(s) of interest), 'Search by TF' (input TF name and sample), 'Search by SNP' (input SNP ID), 'Search enhancer associated lncRNAs by genomic region' (input genomic position and sample), 'Search chromatin accessibility associated lncRNAs by genomic region' (input genomic position and sample). (liclab.net)
My research interest is in the patient-specific analysis by considering the variations from transcriptional, epigentic, and genetic variations. (aporc.org)

One way to provide such comprehensive information of genetic and epigenetic networks in cancer cells is through chromatin landscape, especially through open chromatin regions with high DNA accessibility. (frontiersin.org)
A map of open chromatin is able to uncover all classes of cis-regulatory elements, such as active promoters, enhancers, and insulators. (frontiersin.org)

Dr. Anders Hansen, a 2020 NIH Director's New Innovator Award Recipient grantee from the Common Fund High-Risk High-Reward program and a member of the 4D Nucleome program , has created a method called Region Capture Micro-C (RCMC) that maps physical interactions in the genome at 100 times higher resolution than existing approaches. (nih.gov)
Understanding how these microcompartments and enhancer-promoter interactions change over time during development may open new pathways to understand and treat diseases that affect gene regulation. (nih.gov)
These LRC are the signature of the DNA-histone proteins interactions within the nucleosomes, the basic units for DNA compaction in eukaryotic cell nuclei, that constitute a regulatory factor for accessibility to genetic material. (ens-lyon.fr)
Promoter-anchored chromatin interactions predicted from genetic analysis of epigenomic data. (ox.ac.uk)

My previous experiences were focused on the following topics: DNA variant calling, polygenic scores, bioinformatics pipeline development/automation, gene expression analysis by RNA-Seq, prokaryotic genome assembly and annotation, angiogenesis, and machine learning. (stanford.edu)

We used the histone mark H3K4me1 to analyze gain and loss of enhancer activity genome-wide in primary colon cancer lines relative to normal colon crypts. (nih.gov)

Hyperactivated β-catenin initiates the expression of various downstream targets through binding to the promoter regions via TCF/LEF transcription factors. (lifeboat.com)

Interestingly, the 10 kb upstream promoter region on chromosome X of the genomes were significantly less dense than the chromosomal mean, while the same region in chromosome Y was the most dense. (nih.gov)
Sixty-two base pairs (bp) region (− 340 ~ − 279 bp upstream from start codon) and about 450 bp region (− 1489 to − 1017 bp) in BoGH3.13-1 promoter are important for expressions in anther and expressions in leaf primordia and floral abscission zones, respectively. (biomedcentral.com)

The goal in meiosis is to provide chances for novel genetic combination on as many sites as possible, to combine even closely spaced parental alleles," says Franz Klein. (sciencedaily.com)
Discovery of Novel Genetic Elements Associated with Familial ALS. (neurodegenerationresearch.eu)
The genomes will be subject to rare variant and CNV analysis of coding and non-coding regions to identify novel genetic elements associated FALS. (neurodegenerationresearch.eu)
We are confident that the proposed project will lead to the discovery of one or more novel genetic elements contributing to ALS increasing our knowledge of the pathways contributing to this devastating disease and open new avenues of research including the development of new therapeutic targets. (neurodegenerationresearch.eu)

Across 10 association studies of various diseases and traits, we found that the associated SNPs significantly overlapped our predicted control region annotations in specific cell types," Kellis says. (nih.gov)
SNPs or indels) in the flanking areas of the repeat region (Gettings et al. (sachecucine.it)
For example, in the 'Risk SNPs' module of enhancer region, TRlnc provides the detailed (epi) genetic information about Risk SNPs within the enhancer region which is selected by user. (liclab.net)

These elements may be found in both promoter and enhancer regions. (uchicago.edu)

The aim of this study is to elucidate the genetic risk of development and recurrence of HCC in patients with HCV. (medscape.com)
Plenary speaker Robert Roberts, MD, outlined some of the reasons that it will take quite some time to elucidate the role of and devise treatment responses to genetic risk in cardiovascular disease (CVD) and move the field into Green's proposed fifth domain-improving the effectiveness of healthcare. (aacc.org)

Using the most thorough genome-wide profiling technologies for differentially methylated regions, we find very few intrinsically epigenetically variable regions that we term iiDMRs. (researchgate.net)

2002 . Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. (nih.gov)
A necessary tool is a robust transfection system for genetic analysis and genome modification of B. bigemina. (usda.gov)
Presence of an intron in the 5' untranslated region (UTR) was determined by RACE analysis performed on total RNA extracted from in vitro cultured B. bigemina and sequencing. (usda.gov)
Through the application of cutting-edge techniques such as comparative genomics, structural modeling, and metagenomic analysis, we have made substantial strides in identifying the genetic and enzymatic factors responsible for this metabolic pathway. (nih.gov)
Compared to whole genome sequencing (WGS), exome sequencing covers only the 1% of the genome that is translated into protein, greatly reducing the technical burden of data collection and analysis. (frontiersin.org)

In this study we identify and characterize a bidirectional promoter of B. bigemina. (usda.gov)
The largest genome-wide association study to date, involving more than 300 institutions and more than 250,000 subjects, roughly doubles the number of known gene regions influencing height to more than 400. (sciencedaily.com)
Here we propose to expand our study by whole genome sequencing this familial ALS sample cohort. (neurodegenerationresearch.eu)
Here we undertake the largest canine genome-wide association study to date, with a panel of over 4,200 dogs genotyped at 180,000 markers, to accelerate mapping efforts. (nature.com)
As the integration of NGS in the study and treatment of cancer continues to mature, we believe that the field of cancer genomics will need to move toward more complete 100% genome sequencing. (frontiersin.org)
performed the first whole-genome sequencing study on AML cells collected from a single patient. (frontiersin.org)
To date, this study is by far the largest Brazilian cohort (n=5788) studied by CMA and is derived from a joint collaboration formed by the University of Sao Paulo and three private genetic diagnostic centers to investigate the genetic bases of neurodevelopmental disorders and congenital abnormalities. (stanford.edu)

Transcription factor protein interactomes reveal genetic determinants in heart disease. (nih.gov)

Countless such studies across diverse diseases and conditions have implicated specific regions in the genome. (nih.gov)
Called EyeGEx the database provides a resource for vision researchers, not only for studies of AMD, but for research into the genetic causes of other diseases such as diabetic retinopathy and glaucoma. (nih.gov)

Thus, in a limited cohort, we identified an association between methylmercury exposure and hypomethylation of a potentially labile region of the genome (SEPP1 promoter), and this relationship was gender specific. (cdc.gov)

Current evidence suggests that rather than existing as distinct syndromes, sporadic and familial cases of IPF (familial interstitial pneumonia) probably reflect a continuum of genetic risk. (ersjournals.com)

Everyone, I welcome you all to the NIMH virtual workshop on gene based therapeutics for genetic neurodevelopmental disorders. (nih.gov)
Today we have a panel of experts from academia, government and industry to share some success stories and their perspectives on challenges and opportunities in developing gene based therapeutics for individuals with rare genetic neurodevelopmental disorders. (nih.gov)
During the second part of the meeting, we'll have six talks on case studies focusing on rare genetic neurodevelopmental disorders to highlight some success stories and also the challenges for specific disorders. (nih.gov)

Anatomy12

Organisms11

Diseases2

Chemicals and Drugs78

Analytical, Diagnostic and Therapeutic Techniques and Equipment30

Phenomena and Processes128

Disciplines and Occupations3

Technology, Industry, Agriculture1

Information Science10

Health Care1

Genes46

Variants22

Methylation17

Humans4

Mutations18

Sequences9

Variation16

Sequence12

Polymerase5

Recent whole genome1

Single nucleotide2

Homologous3

Genomic regions2

Enhancers and promoters3

Analyses3

Nucleotide1

Loci4

GWAS1

Gene promoters1

Regulate3

Regulatory regions11

Human23

Modifications1

Bacterial1

Mammalian1

Mice1

Biology4

Vectors1

Recombination4

Replication2

Nucleosome free regions1

Putative1

Consortium3

CRISPR-Cas91

Transcriptional5

Open chromatin2

Interactions4

Annotation1

Histone1

Transcription factors1

Upstream2

Novel genetic4

SNPs3

Enhancer regions1

Elucidate2

Differentially1

Analysis5

Study7

Determinants1

Diseases2

Association1

Familial1

Neurodevelopmental disorders3