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Related Concept Videos

Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

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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Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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Overview of Transposition and Recombination

Transposons make up a significant part of genomes of various organisms. Therefore, it is believed that transposition played a major evolutionary role in speciation by changing genome sizes and modifying gene expression patterns. For example, in bacteria, transposition can lead to conferring antibiotic resistance. Movement of transposable elements within the genetic pool of pathogenic bacteria can aid in transfer of antibiotic-resistant genetic elements. In eukaryotes, transposons can carry out...
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Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
DNA-only Transposons02:57

DNA-only Transposons

DNA-only transposons are called autonomous transposons since they code for the enzyme transposase that is required for the transposition mechanism. Insertion of transposons can alter gene functions in multiple ways. They can mutate the gene, alter gene expression by introducing a novel promoter or insulator sequence, introduce new splice sites, and change the mRNA transcripts produced, or remodel chromatin structure.
The donor site from where the transposon is excised is either degraded or...
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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.
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Mobile elements in the human genome: implications for disease.

Szilvia Solyom1, Haig H Kazazian

  • 1McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Broadway Research Building, Room 412, 733 N, Broadway, Baltimore, MD 21205, USA. kazazian@jhmi.edu.

Genome Medicine
|February 28, 2012
PubMed
Summary
This summary is machine-generated.

Mobile genetic elements, or "jumping genes," significantly impact mammalian genomes and can cause diseases like cancer and neurological disorders through various mechanisms. Understanding these elements is crucial for medical advancements.

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12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

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Area of Science:

  • Genomics
  • Molecular Biology
  • Evolutionary Biology

Background:

  • Mammalian genomes contain a substantial fraction of mobile genetic elements, including retrotransposons, DNA transposons, and endogenous retroviruses.
  • These mobile elements have profoundly influenced genome evolution and individual phenotypes.
  • A portion of these mobile elements remains active or can be reactivated, posing potential health risks.

Purpose of the Study:

  • To review genome-scale technologies that enhance understanding of diseases caused by mobile genetic elements.
  • To discuss the medical implications of mobile genetic elements' role in disease.
  • To highlight the link between retrotransposon activity and diseases such as cancer and neurological disorders.

Main Methods:

  • Review of current literature on mobile genetic elements and their disease-causing mechanisms.
  • Analysis of genome-scale technologies for identifying mobile element insertions.
  • Discussion of established and potential roles of mobile elements in human pathology.

Main Results:

  • Non-long terminal repeat retrotransposons can cause disease through insertional mutagenesis, recombination, and providing enzymatic activities.
  • Nearly 100 examples of retroelement insertions causing disease are documented.
  • Genome-scale technologies have significantly expanded the knowledge of mobile element-induced diseases.

Conclusions:

  • Mobile genetic elements, particularly retrotransposons, are implicated in a growing number of human diseases.
  • Retrotransposon mutagenesis is increasingly recognized as a contributing factor in cancers and neurological disorders.
  • Further research into mobile elements holds significant potential for future medical applications and treatments.