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Related Concept Videos

Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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Genome Copying Errors02:46

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DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
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Comparing Copy Number Variations and SNPs02:26

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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.
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Genomic Imprinting and Inheritance02:30

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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Conservative Site-specific Recombination and Phase Variation02:53

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Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
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Spreading of Chromatin Modifications02:25

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The histone proteins in the nucleosomes are post-translationally modified (PTM) to increase or decrease access to DNA. The commonly observed PTMs are methylation, acetylation, phosphorylation, and ubiquitination of lysine amino acids in the histone H3 tail region. These histone modifications have specific meaning for the cell. Hence, they are called "histone code". The protein complex involved in histone modification is termed as "reader-writer" complex.
Writers
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Related Experiment Video

Updated: Jul 12, 2025

Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion
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Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion

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Genetic modifiers of repeat expansion disorders.

Sangeerthana Rajagopal1,2, Jasmine Donaldson1,2, Michael Flower1,2

  • 1UCL Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, U.K.

Emerging Topics in Life Sciences
|October 20, 2023
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Repeat expansion disorders (REDs) are genetic conditions caused by expanding DNA repeats. Somatic expansion of these repeats drives disease progression, and understanding DNA repair pathways may lead to new therapies.

Keywords:
DNA synthesis and repaircag repeatgenetic modifierrepeat expansionsomatic DNA expansionsomatic instability

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Area of Science:

  • Genetics
  • Molecular Biology
  • Neurology

Background:

  • Repeat expansion disorders (REDs) are monogenic diseases stemming from expanded repetitive DNA sequences.
  • The length of these DNA repeats strongly correlates with age at onset and disease progression.
  • Somatic expansion of repeat tracts in carriers is hypothesized to drive disease progression.

Purpose of the Study:

  • To explore genetic factors influencing phenotypic variability in REDs.
  • To elucidate common pathogenic mechanisms across different REDs.
  • To investigate the role of DNA repair pathways in RED pathogenesis.

Main Methods:

  • Analysis of human genetic data.
  • Utilizing mouse models of REDs.
  • Employing in vitro models to study repeat expansion dynamics.

Main Results:

  • Phenotypic variability in REDs is influenced by the specific gene, repeat location (coding/non-coding), and repeat interruptions.
  • DNA repair pathways are implicated in the disease-modifying effects of somatic repeat mutations.
  • Evidence suggests a link between DNA repair mechanisms and the progression of REDs.

Conclusions:

  • Understanding genetic modifiers and DNA repair pathways is crucial for REDs.
  • These insights can illuminate common pathogenic mechanisms across REDs.
  • Targeting DNA repair pathways holds potential for future disease-modifying therapies for REDs.