Genomic instability human genome interspersed repetitive sequences. Medical search. Frequent questions

they found out that more than half of the eukaryotic genomes were repetitive DNA through their experiments on reassociation of DNA. (wikipedia.org)
Small RNAs have proven to be essential regulatory molecules encoded within eukaryotic genomes. (biomedcentral.com)

The increasing accessibility of whole-genome sequencing across research and clinical settings has improved our ability to predict antibacterial susceptibility, to track epidemics at the level of individual outbreaks and wider historical trends, to query the efficacy of the bacille Calmette-Guérin (BCG) vaccine, and to uncover targets for novel antitubercular therapeutics. (jci.org)
Whole-genome sequencing (WGS) of M. tuberculosis and related mycobacteria is now routine, allowing comparisons across time and space. (jci.org)
Using long-insert jumping libraries at 105X mean physical coverage and linked-read whole-genome sequencing from 10X Genomics, we document seven major SV classes at ~5 kb SV resolution. (biomedcentral.com)
The whole genome of Hainan Partridge was de novo sequenced (with shotgun approach on the Illumina 2000 platform) and assembled. (biomedcentral.com)
However, the whole genome of Hainan Partridge is not currently available and few studies have been conducted for the exploration related to the genetic mechanisms of the environmental adaption to Hainan Island of the Hainan Partridge. (biomedcentral.com)
A whole genome shotgun approach on the Illumina 2000 platform was performed to sequence the genome. (biomedcentral.com)

Transposable elements pervading mammalian genomes mostly originate from retrotransposons, including long interspersed nuclear elements (LINEs), short interspersed nuclear elements (SINEs), and endogenous retroviruses (ERVs) ( 2 , 3 ). (rna-mediated.com)
Sequencing of mammalian genomes, including primates, rodents and others shows that ~90% of genes have been preserved, usually as single copies without duplication, disruption or deletion, since their last common ancestors. (biomedcentral.com)

Long interspersed nuclear element-1 (L1) retrotransposons are a source of divergent genetic information in hominoid genomes, but their importance in physiological functions and their contribution to human brain evolution are largely unknown. (bvsalud.org)
Here we report that H3K9me3 is preferentially transferred onto the leading strands of replication forks, which occurs predominantly at long interspersed nuclear element (LINE) retrotransposons (also known as LINE-1s or L1s) that are theoretically transcribed in the head-on direction with replication fork movement. (bvsalud.org)
Retrotransposons shape host genome landscape and evolution through introducing, deleting or modifying cis-regulatory elements or genes ( 4 , 5 ). (rna-mediated.com)
The claim that retrotransposons shape host genome landscape and evolution is a ridiculous claim. (rna-mediated.com)
Here we ask whether retrotransposons contributed to the recent expansions of the Androgen - binding protein ( Abp ) gene families that occurred independently in the mouse and rat genomes. (biomedcentral.com)

Although genomic instability, epigenetic abnormality, and gene expression dysregulation are hallmarks of colorectal cancer, these features have not been simultaneously analyzed at single-cell resolution. (pharmaceuticalintelligence.com)
This supports the hypothesis that specific repeats gained favor by maintaining non-self PAMPs to act as sensors for loss of heterochromatin as an epigenetic checkpoint of quality control that avoids genome instability generally. (codondex.com)
Small RNAs play important roles in many aspects of pre- and post-transcriptional gene regulation, epigenetic modifications, chromosome segregation and genome structure. (biomedcentral.com)

the complete genome sequence of Mycobacterium tuberculosis continues to provide an invaluable resource to understand tuberculosis (TB), the leading cause of global infectious disease mortality. (jci.org)

The genetic mechanisms underlying the expansion in size and complexity of the human brain remain poorly understood. (bvsalud.org)
Genome-wide DNA methylation levels were relatively consistent within a single genetic sublineage. (pharmaceuticalintelligence.com)
Our work demonstrates the feasibility of reconstructing genetic lineages and tracing their epigenomic and transcriptomic dynamics with single-cell multiomics sequencing. (pharmaceuticalintelligence.com)
A hallmark of cancer, autoimmunity and disease is the aberrant transcription of typically silenced, repetitive genetic elements that mimic Pathogen-Associated Molecular Patterns (PAMP's) that bind Pattern Recognition Receptors (PPR's) triggering the innate immune system and inflammation. (codondex.com)
Problems that arise during DNA replication can drive genomic alterations that are instrumental in the development of cancers and many human genetic disorders. (elifesciences.org)
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. (lookformedical.com)
Sequence homology is an indication of the genetic relatedness of different organisms and gene function. (lookformedical.com)
Transposable elements (TE) are important components of livestock and poultry genomes, contributing to their genetic diversity, chromatin states, gene regulatory networks, and complex traits of economic value. (biomedcentral.com)
Transposable elements can be considered as a source of raw material for primitive genomes, tools of genetic innovation, and ancestors of modern genes (e.g., ncRNA) [ 15 ]. (biomedcentral.com)
To provide genome-scale insights into the vulnerable Hainan Partridge, facilitate comparative studies of avian genomics and further the development of genetic tools for Hainan Partridge research and conservation, we sequenced the genome of the Hainan Partridge. (biomedcentral.com)
Our results indicate that genetic instability at pachytene piRNA loci, while producing certain pathogenic SVs, also protects genome integrity against TE mobilization by driving the formation of rapid-evolving piRNA sequences. (gokcumenlab.org)

In the 2000s, the data from full eukaryotic genome sequencing enabled the identification of different promoters, enhancers, and regulatory RNAs which are all coded by repetitive regions. (wikipedia.org)
However, treating Trp53 mutant MEF's with DNA demethylating agent caused a huge increase in the level of transcripts encoding short interspersed nuclear elements and other species of noncoding RNAs that generated a strong type 1 IFN response. (codondex.com)
It has been widely acknowledged that non-coding RNAs are master-regulators of genomic function. (codondex.com)
These short RNAs participate in a diverse array of cellular processes including gene regulation, chromatin dynamics and genome defense. (biomedcentral.com)
As part of the genome sequencing initiative for the tammar, we have explored the evolution of each of the major classes of mammalian small RNAs in an Australian marsupial for the first time, including the first genome-scale analysis of the newest class of small RNAs, centromere repeat associated short interacting RNAs (crasiRNAs). (biomedcentral.com)
Using next generation sequencing, we have characterized the major classes of small RNAs, micro (mi) RNAs, piwi interacting (pi) RNAs, and the centromere repeat associated short interacting (crasi) RNAs in the tammar. (biomedcentral.com)
This study encompasses the first analyses of the major classes of small RNAs for the newly completed tammar genome, validates preliminary annotations using deep sequencing and computational approaches, and provides a foundation for future work on tammar-specific as well as conserved, but previously unknown small RNA progenitors and targets identified herein. (biomedcentral.com)

Repeated sequences (also known as repetitive elements, repeating units or repeats) are short or long patterns of nucleic acids (DNA or RNA) that occur in multiple copies throughout the genome. (wikipedia.org)
The disposition of repetitive elements throughout the genome can consist either in directly adjacent arrays called tandem repeats or in repeats dispersed throughout the genome called interspersed repeats. (wikipedia.org)
Tandem repeats and interspersed repeats are further categorized into subclasses based on the length of the repeated sequence and/or the mode of multiplication. (wikipedia.org)
However, an abundance of neutral repeats can still influence genome evolution as they accumulate over time. (wikipedia.org)
Tandem repeats are repeated sequences which are directly adjacent to each other in the genome. (wikipedia.org)
Tandem repeats may vary in the number of nucleotides comprising the repeated sequence, as well as the number of times the sequence repeats. (wikipedia.org)
For minisatellites and microsatellites, the number of times the sequence repeats at a single locus can range from twice to hundreds of times. (wikipedia.org)
Tandem repeats have a wide variety of biological functions in the genome. (wikipedia.org)
In addition to playing an important role in recombination, tandem repeats also play important structural roles in the genome. (wikipedia.org)
When pathogen-associated features were quantified , specific repeats in the genome not only display PAMP's capable of stimulating PRRs but, in some instances, have seemingly maintained such features under selection. (codondex.com)
TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. (lookformedical.com)
Most other SINEs are derived from tRNAs including the MIRs (mammalian-wide interspersed repeats). (lookformedical.com)
By contrast, the proportion of shared vs. lineage-specific ERVII repeats in the Abp region resembles the rest of the genome. (biomedcentral.com)

Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. (lookformedical.com)
Nucleotide sequences, usually upstream, which are recognized by specific regulatory transcription factors, thereby causing gene response to various regulatory agents. (lookformedical.com)
While most pachytene piRNAs lack obvious targets, neither the copy numbers nor nucleotide sequences of pachytene piRNA loci are conserved 5 , 6 , 7 , and many of them are not found in syntenic regions even in closely related mammals 8 , 9 . (gokcumenlab.org)

We find that this type of non-canonical fork convergence in fission yeast is prone to trigger deletions between repetitive DNA sequences via a mechanism we call Inter-Fork Strand Annealing (IFSA) that depends on the recombination proteins Rad52, Exo1 and Mus81, and is countered by the FANCM-related DNA helicase Fml1. (elifesciences.org)
We examined each of these small RNA classes with respect to the newly assembled tammar wallaby genome for gene and repeat features, salient features that define their canonical sequences, and the constitution of both highly conserved and species-specific members. (biomedcentral.com)

McClintock's work set the stage for the discovery of repeated sequences because transposition, centromere structure, and telomere structure are all possible through repetitive elements, yet this was not fully understood at the time. (wikipedia.org)
Telomeres are protective DNA structures that are located at the end of chromosomes, and proper telomere maintenance is indispensable for chromosomal integrity and overall genomic stability. (oncotarget.com)
ALT is a recombination-based mechanism where one telomere uses other chromosomal, or extrachromosomal, telomeric DNA sequences as a template for telomere elongation. (oncotarget.com)

The maintenance phase often involves a plethora of non-DNA sequence specific chromatin cofactors that set up and maintain chromatin states through cell division and for extended periods of time-sometimes in the absence of the initial transcription factors 3 . (nature.com)

Discoveries of deleterious repetitive DNA-related diseases stimulated further interest in this area of study. (wikipedia.org)
Transposable elements were initially viewed as "selfish" DNA or "parasitic" elements because of their deleterious effects on host genomes [ 7 ]. (biomedcentral.com)

In eukaryotes, repetitive DNA sequences are transcriptionally silenced through histone H3 lysine 9 trimethylation (H3K9me3). (bvsalud.org)
Based on our findings, we propose that IFSA is a potential threat to genomic stability in eukaryotes. (elifesciences.org)

In spite of the abundance of research on the roles of TE on the genome biology in humans, model organisms (e.g., mice and Drosophila ), and plants (especially crop species), few studies on TE have been conducted in livestock and poultry. (biomedcentral.com)

Many repetitive DNA sequences have been linked to human diseases such as Huntington's disease and Friedreich's ataxia. (wikipedia.org)
Overall, repeated sequences are an important area of focus because they can provide insight into human diseases and genome evolution. (wikipedia.org)
Loss of silencing of the repeat elements leads to genome instability and human diseases, including cancer and ageing1-3. (bvsalud.org)
However, they can also induce detrimental genome instability and numerous human diseases ( 3 , 6 ). (rna-mediated.com)

Despite these discoveries, the patterns, rates, and properties of cxSVs have primarily been the focus of cancer genomics and such rearrangements remain largely underappreciated in the human germline. (biomedcentral.com)
In this review, we analyze 72 studies published in the past 20 years, summarize the TE composition in livestock and poultry genomes, and focus on their potential roles in functional genomics. (biomedcentral.com)

Long-read RNA sequencing technologies, including Oxford Nanopore and PacBio, can directly sequence relatively long transcripts, thus providing the opportunity to examine full-length LINE transcripts. (bvsalud.org)

These repetitive viral DNA sequences normally act as a quality control over genomic dysregulation responding in ways that preferentially promote immune conditions for stability. (codondex.com)

Using optimized single-cell multiomics sequencing together with multiregional sampling of the primary tumor and lymphatic and distant metastases, we developed insights beyond intratumoral heterogeneity. (pharmaceuticalintelligence.com)

DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom. (lookformedical.com)

With the completion of the human genome and the genomes of other species, we have a glimpse of many more genes than we ever had before to study. (pharmaceuticalintelligence.com)
Sequences of DNA in the genes that are located between the EXONS. (lookformedical.com)
The pluripotency of the initial cell and the establishment of cell types depend to a large extent on the coordinated deployment of hundreds of transcription factors that bind to specific DNA sequences to activate or repress the transcription of cell lineage genes 1 . (nature.com)
Mapping all miRNAs to the tammar genome and comparing target genes among tammar, mouse and human, we identified 163 conserved target genes. (biomedcentral.com)
An additional nine genes were identified in tammar that do not have an orthologous miRNA target in human and likely represent novel miRNA-regulated genes in the tammar. (biomedcentral.com)

LINE activity creates genomic structural variants in human populations and leads to somatic alterations in cancer genomes. (bvsalud.org)

The association between human introns and n. (codondex.com)

Repetitive elements are enriched in the middle of chromosomes as well. (wikipedia.org)

Using multiomics profiling, we here demonstrate that L1 promoters are dynamically active in the developing and the adult human brain. (bvsalud.org)

Today, the structural and regulatory roles of repetitive DNA sequences remain an active area of research. (wikipedia.org)
Structural variation (SV) influences genome organization and contributes to human disease. (biomedcentral.com)

On the top of the heatmap, the amplification or deletion frequency of each genomic bin (250 kb) of the non-hypermutated CRC samples from the TCGA Project and patient CRC01's cancer cells are shown. (pharmaceuticalintelligence.com)

The region of DNA which borders the 3' end of a transcription unit and where a variety of regulatory sequences are located. (lookformedical.com)
Starting from the zygotic genome, stage- and cell-type-specific transcription factors initiate regulatory cascades that induce cell differentiation. (nature.com)

About 9.19% of the genome was identified as repeat sequences and about 5.88 million heterozygous SNPs were detected. (biomedcentral.com)

One locus important in embryogenesis, KIT , has been associated with white coat patterns in several mammalian species and piebaldism in humans. (creation.com)
There are at least 16 species in genus Arborophila and no genome sequence is available. (biomedcentral.com)
We announced the first high quality genome in Arborophila genus and it will be a valuable genomic resource for the further studies such as evolution, adaption, conservation, not only on Hainan Partridge but also on Arborophila or Phasianidae species. (biomedcentral.com)

In many organisms, a significant fraction of the genomic DNA is repetitive, with over two-thirds of the sequence consisting of repetitive elements in humans. (wikipedia.org)
Some repetitive elements are neutral and occur when there is an absence of selection for specific sequences depending on how transposition or crossing over occurs. (wikipedia.org)
Many repeat sequences are likely to be non-functional, decaying remnants of Transposable elements, these have been labelled "junk" or "selfish" DNA. (wikipedia.org)
Transposable elements, such as Long INterspersed Elements (LINEs), are DNA sequences that can replicate within genomes. (bvsalud.org)
There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. (lookformedical.com)
Elements that are transcribed into RNA, reverse-transcribed into DNA and then inserted into a new site in the genome. (lookformedical.com)
Most cancers exhibit reduced methylation of repetitive sequences such as Long INterspersed Element-1 (LINE-1) and Alu elements. (biomedcentral.com)
Using dot plot analysis, we found that the most recent duplication in the Abp region of the mouse genome is flanked by L1Md _ T elements. (biomedcentral.com)
Analysis of the sequence of these elements revealed breakpoints that are the relicts of the recombination that caused the duplication, confirming that the duplication arose as a result of NAHR using L1 elements as substrates. (biomedcentral.com)
We observed that the major accumulation of L1 elements occurred after the split of the mouse and rat lineages and that there is a striking overlap between the timing of L1 accumulation and expansion of the Abp gene family in the mouse genome. (biomedcentral.com)
A conserved function of piRNAs across all bilateral animals is to silence sequence-complementary transposable elements (TEs) 1 , 2 , 3 , 4 . (gokcumenlab.org)

The cancer cells' DNA demethylation degrees clearly correlated with the densities of the heterochromatin-associated histone modification H3K9me3 of normal tissue and those of repetitive element long interspersed nuclear element 1. (pharmaceuticalintelligence.com)

At the 25-year anniversary of this accomplishment, we describe how insights gleaned from the M. tuberculosis genome have led to vital tools for TB research, epidemiology, and clinical practice. (jci.org)

In summary, our results demonstrate that L1-derived transcripts provide a previously undescribed layer of primate- and human-specific transcriptome complexity that contributes to the functional diversification of the human brain. (bvsalud.org)
This study focuses on the development of a new bioinformatics pipeline for the identification and quantification of active, full-length LINE transcripts in diverse human tissues and cell lines. (bvsalud.org)

The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. (cancer-genetics.org)

Mechanistically, the human silencing hub (HUSH) complex interacts with the leading-strand DNA polymerase Pol Îµ and contributes to the asymmetric segregation of H3K9me3. (bvsalud.org)

used a single-cell triple omics sequencing (scTrio-seq) technique to examine the mutations, transcriptome, and methylome within colorectal cancer tumors and metastases from 10 individual patients. (pharmaceuticalintelligence.com)
For humans, a maximum of 10 alleles could have made it through unless Noah's sons carried mutations. (creation.com)

These data provide a foundational map of large SV in the morbid human genome and demonstrate a previously underappreciated abundance and diversity of cxSV that should be considered in genomic studies of human disease. (biomedcentral.com)

The human idiocy exposed by Courtney W. Hanna et al (2017? (rna-mediated.com)

While some repeated DNA sequences are important for cellular functioning and genome maintenance, other repetitive sequences can be harmful. (wikipedia.org)
We discuss the interplay between epigenetics and DNA sequence variation as well as the implications of epigenetics for cellular memory and plasticity. (nature.com)

The Alu sequence family (named for the restriction endonuclease cleavage enzyme Alu I) is the most highly repeated interspersed repeat element in humans (over a million copies). (lookformedical.com)
Sequences of DNA or RNA that occur in multiple copies. (lookformedical.com)
TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES). (lookformedical.com)
Copies of the LINE 1 (L1) family form about 15% of the human genome. (lookformedical.com)

Such proposed functions are difficult to reconcile with pachytene piRNAs' rapid evolution, and this rapid evolution and their redundant distribution across multiple loci on the genome also complicates their functional study. (gokcumenlab.org)

Pachytene piRNAs have been proposed to either regulate mRNAs 10 , 11 , 12 , 13 , 14 or stabilize PIWI proteins for a function that does not require piRNA-guided sequence specificity 15 . (gokcumenlab.org)
Similar to mammalian pachytene piRNAs, most of the piRNAs from adult chicken testes were not derived from repetitive regions nor genic regions (Fig. 1a, iii ). (gokcumenlab.org)

The presence of repeated sequence DNA makes it easier for areas of homology to align, thereby controlling when and where recombination occurs. (wikipedia.org)

CRISPR interference silencing of LINC01876 results in reduced size of cerebral organoids and premature differentiation of neural progenitors, implicating L1s in human-specific developmental processes. (bvsalud.org)
We sequenced 689 participants with autism spectrum disorder (ASD) and other developmental abnormalities to construct a genome-wide map of large SV. (biomedcentral.com)

Comparisons between cancerous and normal cell lines, as well as human tissue samples, revealed elevated expression levels of young LINEs in cancer, particularly at intact L1 loci. (bvsalud.org)
The genome-wide DNA demethylation patterns of cancer cells were consistent in all 10 patients whose DNA we sequenced. (pharmaceuticalintelligence.com)
International Cancer Genome Consortium. (cancer-genetics.org)

When the repeating sequence is only 2-10 nucleotides long, the repeat is referred to as a short tandem repeat (STR) or microsatellite. (wikipedia.org)
When the repeating sequence is 10-60 nucleotides long, the repeat is referred to as a minisatellite. (wikipedia.org)

Repeated sequences are categorized into different classes depending on features such as structure, length, location, origin, and mode of multiplication. (wikipedia.org)
A comprehensive understanding of the genomic structure is especially important, as it lays the foundation for investigating important economic traits in livestock and poultry using biological approaches and mechanisms. (biomedcentral.com)
The genome comparison between Hainan Partridge and Red Junglefowl ( Gallus gallus ) demonstrated a conserved genome structure. (biomedcentral.com)

Anatomy24

Organisms10

Diseases21

Chemicals and Drugs45

Analytical, Diagnostic and Therapeutic Techniques and Equipment32

Phenomena and Processes150

Disciplines and Occupations5

Anthropology, Education, Sociology and Social Phenomena2

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Eukaryotic genomes2

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Epigenetic3

Complete genome sequence1

Genetic11

RNAs7

Repeats13

Nucleotide sequences3

Canonical2

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20171

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