Microsatellite Instability: From Molecular Mechanisms to Repeat Expansion Diseases
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: closed (31 July 2024) | Viewed by 301
Special Issue Editor
Interests: tandem repeats; trinucleotide repeats; microsatellite; minisatellite; repeat expansion; DNA instability; DNA replication; DNA repair; replication slippage
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Microsatellites are simple repetitive DNA sequences present in prokaryotic and eukaryotic genomes. Due to their high instability, consisting of the addition or deletion of repeated units, they have been referred to as dynamic mutations.
Although they have been classically used as molecular markers, microsatellite instability is assumed to play a relevant role in the evolution of genomes. Moreover, the instability of repeated sequences can be a source of phenotypic variation in bacterial pathogens, be linked to neurodegenerative diseases in humans, or be a major feature in certain types of cancer. Numerous genetic assays and biochemical analyses indicate a relevant role of DNA replication, DNA repair and transcription machineries in generating instability of microsatellite repeats. Small-scale instability is supposed to occur by the local misalignment of DNA as a consequence of the blockage of DNA replication within a repeated region that is promoted by a defective replication machinery or the formation of Non-B DNA structures at the repeat. Large expansions of trinucleotide repeats, as observed in more than 50 repeat expansion diseases including Huntington's disease, multiple spinocerebellar ataxias or fragile X syndrome, and are not uniquely explained by the DNA slippage model but more complex mechanisms including the formation of R-loops.
This Special issue welcomes manuscripts including the molecular mechanistic details of DNA microsatellite instability from in vitro model systems to Bacteria and Eukaryotes, their role as biomarkers and their relationship to Repeat Expansion Diseases.
Prof. Dr. Enrique Viguera
Guest Editor
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Keywords
- microsatellite
- DNA instability
- DNA replication
- DNA repair
- DNA Recombination
- replication slippage
- misalignment
- repeat expansion
- trinucleotide repeats
- genetic anticipation
- dynamic mutations
- fragile X syndrome
- Huntington's disease
- Friedreich’s ataxia
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