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Related Concept Videos

Overview of Transposition and Recombination02:13

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...
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...
Transposons01:24

Transposons

Transposons, or "jumping genes," are small mobile genetic elements (MGEs) that range from 700 to 40,000 base pairs in length. They are found in all organisms and can move within the same chromosome or transfer to different chromosomes. In some cases, transposons can also jump between different host DNA molecules, such as plasmids or viruses, contributing to genetic variability.Barbara McClintock first discovered these mobile genetic elements in the 1940s while studying maize genetics, and she...
Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.

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Related Experiment Video

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FISH for Pre-implantation Genetic Diagnosis
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FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Balanced translocations in mental retardation.

Geert Vandeweyer1, R Frank Kooy

  • 1Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium.

Human Genetics
|April 7, 2009
PubMed
Summary

Balanced chromosomal translocations are crucial for identifying genes linked to intellectual disability. This review categorizes translocations, highlighting their role in discovering causative genes and potential novel disease mechanisms.

Area of Science:

  • Genetics
  • Medical Genetics
  • Genomic Medicine

Background:

  • Genetic defects are increasingly recognized as causes of intellectual disability.
  • Balanced chromosomal translocations play a significant role in understanding these genetic underpinnings.

Purpose of the Study:

  • To review the importance of balanced chromosomal translocations in identifying genes responsible for intellectual disability.
  • To categorize and analyze known balanced translocations associated with intellectual disability.

Main Methods:

  • Database search for balanced translocations in patients with intellectual disability.
  • Categorization of translocations based on their impact on gene identification (contiguous gene syndromes, confirmed genes, candidate genes, non-coding sequences).

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Main Results:

  • Balanced translocations have been instrumental in identifying multiple genes involved in intellectual disability.
  • Numerous candidate genes with suspected roles in intellectual disability have been identified.
  • Some translocations do not disrupt protein-coding genes, suggesting roles for non-coding RNAs or ultra-conserved regions.

Conclusions:

  • Balanced translocations are vital tools for discovering genes associated with intellectual disability.
  • Further investigation into non-coding elements disrupted by translocations may reveal novel disease mechanisms.