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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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lncRNA - Long Non-coding RNAs02:39

lncRNA - Long Non-coding RNAs

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In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

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As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
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RNA Splicing01:32

RNA Splicing

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Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
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Related Experiment Video

Updated: Jul 1, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

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Non-coding DNA variants for risk in lupus.

Yutong Zhang1, Guojun Hou1, Nan Shen1

  • 1Shanghai Institute of Rheumatology, Renji Hospital, Shanghai Jiao Tong University School of Medicine (SJTUSM), Shanghai, 200001, China.

Best Practice & Research. Clinical Rheumatology
|March 1, 2024
PubMed
Summary
This summary is machine-generated.

This review explores non-coding DNA variants in Systemic Lupus Erythematosus (SLE), highlighting their role in disease risk and progression. It discusses new methods, including CRISPR, for identifying these variants and potential gene-based therapies for SLE.

Keywords:
CRISPRGeneticsNon-coding variantsSystemic lupus erythematosus

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Area of Science:

  • Genomics
  • Immunology
  • Genetics

Background:

  • Systemic Lupus Erythematosus (SLE) is a complex autoimmune disease influenced by genetic and environmental factors.
  • Recent advances in genomics reveal the significant role of non-coding DNA variants in SLE pathogenesis.

Purpose of the Study:

  • To comprehensively review non-coding DNA variants associated with SLE.
  • To explore their impact on disease risk and progression.
  • To discuss emerging therapeutic strategies targeting these genetic elements.

Main Methods:

  • Review of current literature on non-coding variants in SLE.
  • Discussion of advanced genomic identification and functional characterization techniques.
  • Focus on CRISPR-based gene-editing technologies for variant analysis.

Main Results:

  • Non-coding DNA variants are crucial contributors to SLE etiology and progression.
  • CRISPR technology offers powerful tools for functional characterization of these variants.
  • Modulating non-coding regions presents novel therapeutic avenues for SLE.

Conclusions:

  • Understanding non-coding DNA in SLE is key to unlocking genetic insights.
  • Gene-based therapies and precision medicine hold promise for improved SLE management.