Intersection of the fragile X-related disorders and the DNA damage response

The Repeat Expansion Diseases (REDs) are a large group of human genetic disorders that result from an increase in the number of repeats in a disease-specific tandem repeat or microsatellite. Emerging evidence suggests that the repeats trigger an error-prone form of DNA repair that causes the expansi...

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Published inDNA repair Vol. 144; p. 103785
Main Authors Kumari, Daman, Grant-Bier, Jessalyn, Kadyrov, Farid, Usdin, Karen
Format Journal Article
LanguageEnglish
Published Netherlands Elsevier B.V 01.12.2024
Subjects
Animals
Chromosome fragility
DNA Damage
DNA Repair
Double-strand breaks (DSBs)
Fragile X Mental Retardation Protein - genetics
Fragile X Mental Retardation Protein - metabolism
Fragile X Syndrome - genetics
Fragile X Syndrome - metabolism
Humans
Microsatellite instability
Mismatch repair (MMR)
MutLα
Non-homologous end-joining (NHEJ)
Repeat expansion diseases
Trinucleotide Repeat Expansion
Mismatch repair (MMR)
Chromosome fragility
Non-homologous end-joining (NHEJ)
Repeat expansion diseases
Double-strand breaks (DSBs)
MutLα
Microsatellite instability
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Abstract The Repeat Expansion Diseases (REDs) are a large group of human genetic disorders that result from an increase in the number of repeats in a disease-specific tandem repeat or microsatellite. Emerging evidence suggests that the repeats trigger an error-prone form of DNA repair that causes the expansion mutation by exploiting a limitation in normal mismatch repair. Furthermore, while much remains to be understood about how the mutation causes pathology in different diseases in this group, there is evidence to suggest that some of the downstream consequences of repeat expansion trigger the DNA damage response in ways that contribute to disease pathology. This review will discuss these subjects in the context of the Fragile X-related disorders (aka the FMR1 disorders) that provide a particularly interesting example of the intersection between the repeats and the DNA damage response that may also be relevant for many other diseases in this group. •The Fragile X-related disorders result from misapplication of the MMR machinery.•The resultant mutation potentially affects genome integrity in multiple ways.•These include effects on DNA processing that results in chromosomal abnormalities.•It may also trigger gene silencing and the loss of a protein involved in DNA repair.•The same is likely true for many of the >45 other known Repeat Expansion Diseases.
AbstractList The Repeat Expansion Diseases (REDs) are a large group of human genetic disorders that result from an increase in the number of repeats in a disease-specific tandem repeat or microsatellite. Emerging evidence suggests that the repeats trigger an error-prone form of DNA repair that causes the expansion mutation by exploiting a limitation in normal mismatch repair. Furthermore, while much remains to be understood about how the mutation causes pathology in different diseases in this group, there is evidence to suggest that some of the downstream consequences of repeat expansion trigger the DNA damage response in ways that contribute to disease pathology. This review will discuss these subjects in the context of the Fragile X-related disorders (aka the FMR1 disorders) that provide a particularly interesting example of the intersection between the repeats and the DNA damage response that may also be relevant for many other diseases in this group.
The Repeat Expansion Diseases (REDs) are a large group of human genetic disorders that result from an increase in the number of repeats in a disease-specific tandem repeat or microsatellite. Emerging evidence suggests that the repeats trigger an error-prone form of DNA repair that causes the expansion mutation by exploiting a limitation in normal mismatch repair. Furthermore, while much remains to be understood about how the mutation causes pathology in different diseases in this group, there is evidence to suggest that some of the downstream consequences of repeat expansion trigger the DNA damage response in ways that contribute to disease pathology. This review will discuss these subjects in the context of the Fragile X-related disorders (aka the FMR1 disorders) that provide a particularly interesting example of the intersection between the repeats and the DNA damage response that may also be relevant for many other diseases in this group.The Repeat Expansion Diseases (REDs) are a large group of human genetic disorders that result from an increase in the number of repeats in a disease-specific tandem repeat or microsatellite. Emerging evidence suggests that the repeats trigger an error-prone form of DNA repair that causes the expansion mutation by exploiting a limitation in normal mismatch repair. Furthermore, while much remains to be understood about how the mutation causes pathology in different diseases in this group, there is evidence to suggest that some of the downstream consequences of repeat expansion trigger the DNA damage response in ways that contribute to disease pathology. This review will discuss these subjects in the context of the Fragile X-related disorders (aka the FMR1 disorders) that provide a particularly interesting example of the intersection between the repeats and the DNA damage response that may also be relevant for many other diseases in this group.
The Repeat Expansion Diseases (REDs) are a large group of human genetic disorders that result from an increase in the number of repeats in a disease-specific tandem repeat or microsatellite. Emerging evidence suggests that the repeats trigger an error-prone form of DNA repair that causes the expansion mutation by exploiting a limitation in normal mismatch repair. Furthermore, while much remains to be understood about how the mutation causes pathology in different diseases in this group, there is evidence to suggest that some of the downstream consequences of repeat expansion trigger the DNA damage response in ways that contribute to disease pathology. This review will discuss these subjects in the context of the Fragile X-related disorders (aka the FMR1 disorders) that provide a particularly interesting example of the intersection between the repeats and the DNA damage response that may also be relevant for many other diseases in this group. •The Fragile X-related disorders result from misapplication of the MMR machinery.•The resultant mutation potentially affects genome integrity in multiple ways.•These include effects on DNA processing that results in chromosomal abnormalities.•It may also trigger gene silencing and the loss of a protein involved in DNA repair.•The same is likely true for many of the >45 other known Repeat Expansion Diseases.
ArticleNumber 103785
Author Kumari, Daman
Usdin, Karen
Kadyrov, Farid
Grant-Bier, Jessalyn
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  surname: Kumari
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– sequence: 2
  givenname: Jessalyn
  surname: Grant-Bier
  fullname: Grant-Bier, Jessalyn
  organization: Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
– sequence: 3
  givenname: Farid
  surname: Kadyrov
  fullname: Kadyrov, Farid
  organization: Division of Biochemistry and Molecular Biology, Department of Biomedical Sciences, Southern Illinois University School of Medicine, Carbondale, IL 62901, USA
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  givenname: Karen
  surname: Usdin
  fullname: Usdin, Karen
  email: karenu@nih.gov
  organization: Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
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Keywords Mismatch repair (MMR)
Chromosome fragility
Non-homologous end-joining (NHEJ)
Repeat expansion diseases
Double-strand breaks (DSBs)
MutLα
Microsatellite instability
Language English
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Snippet The Repeat Expansion Diseases (REDs) are a large group of human genetic disorders that result from an increase in the number of repeats in a disease-specific...
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SubjectTerms Animals
Chromosome fragility
DNA Damage
DNA Repair
Double-strand breaks (DSBs)
Fragile X Mental Retardation Protein - genetics
Fragile X Mental Retardation Protein - metabolism
Fragile X Syndrome - genetics
Fragile X Syndrome - metabolism
Humans
Microsatellite instability
Mismatch repair (MMR)
MutLα
Non-homologous end-joining (NHEJ)
Repeat expansion diseases
Trinucleotide Repeat Expansion
Title Intersection of the fragile X-related disorders and the DNA damage response
URI https://dx.doi.org/10.1016/j.dnarep.2024.103785
https://www.ncbi.nlm.nih.gov/pubmed/39549538
https://www.proquest.com/docview/3129220242
Volume 144
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