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One of the common DNA damages is the chemical alteration of single bases by alkylation, oxidation, or deamination. The altered bases cause mispairing and strand breakage during replication. This type of damage causes minimal change to the DNA double helix structure and can be repaired by the base excision repair (BER) pathways. BER corrects damaged DNA sequences by removing the damaged base and restoring the original base sequence using the complementary strand as a template.
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Nucleotide excision repair genes shaping embryonic development.

Sofia J Araújo1,2, Isao Kuraoka3

  • 1Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, 08028 Barcelona, Spain.

Open Biology
|October 31, 2019
PubMed
Summary

Nucleotide excision repair (NER) removes DNA damage, and defects cause developmental disorders. This review focuses on NER genes impacting embryonic development, especially nervous system formation.

Keywords:
Cockayne syndromecentral nervous systemdevelopmentembryonucleotide excision repairxeroderma pigmentosum

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Area of Science:

  • Molecular Biology
  • Genetics
  • Developmental Biology

Background:

  • Nucleotide excision repair (NER) is a critical DNA repair pathway conserved across species.
  • NER removes helix-distorting DNA lesions, including those from environmental genotoxins like UV radiation.
  • Defects in NER cause human disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy, with varied severity.

Purpose of the Study:

  • To review genes involved in NER that also play a role in embryonic development.
  • To highlight the specific impact of these genes on nervous system development.
  • To understand the link between DNA repair, transcription, and protection against developmental DNA damage.

Main Methods:

  • Literature review of scientific publications on Nucleotide Excision Repair (NER) and developmental biology.
  • Analysis of genetic defects in NER and their associated human syndromes.
  • Focus on genes with known functions in both DNA repair and embryonic development, particularly neurodevelopment.

Main Results:

  • NER is crucial for protecting against spontaneous DNA damage during embryonic development.
  • Specific NER genes are essential for normal embryonic development, including the formation of a functional nervous system.
  • Inherited NER defects lead to developmental abnormalities seen in Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

Conclusions:

  • Optimal transcription and NER are vital for preventing developmental abnormalities during embryogenesis.
  • Genes functioning in NER have a significant impact on embryonic development, particularly neurodevelopment.
  • Understanding these genes is key to comprehending the etiology of developmental disorders linked to DNA repair deficiencies.