A slippage event normally occurs when a sequence of repetitive nucleotides (tandem repeats) are found at the site of replication. (wikipedia.org)
Tandem repeats are unstable regions of the genome where frequent insertions and deletions of nucleotides can take place, resulting in genome rearrangements. (wikipedia.org)
Tandem repeats (the main influence for slippage replication) can be found in coding and non-coding regions. (wikipedia.org)
In the event that a slippage event occurs there can be a large expansion in the tandem repeats of the HD gene. (wikipedia.org)
An individual who is not affected by Huntington's disease will have 6-35 tandem repeats at the HD locus. (wikipedia.org)
Insertions can expand simple tandem repeats by one or more units. (wikipedia.org)
Genomic regions with a high proportion of repeated DNA sequences (tandem repeats, microsatellites) are prone to strand slippage during DNA replication and DNA repair. (wikipedia.org)
Within DNA trinucleotide repeat sequences, the repair of DNA damage by the processes of homologous recombination, non-homologous end joining, DNA mismatch repair or base excision repair may involve strand slippage mispairing leading to trinucleotide repeat expansion when the repair is completed. (wikipedia.org)
It is possible that each of these mechanisms contributes to the high mutation rate of STRs, but strand slippage is the mechanism proposed for generating most observed mutations in STR loci [ 19 ]. (biomedcentral.com)
It is a form of mutation that leads to either a trinucleotide or dinucleotide expansion, or sometimes contraction, during DNA replication. (wikipedia.org)
When DNA polymerase encounters a direct repeat, it can undergo a replication slippage. (wikipedia.org)
Slippage occurs through five main stages: In the first step, DNA polymerase encounters the direct repeat during the replication process. (wikipedia.org)
DNA polymerase reassembles its position on the template strand and resumes normal replication, but during the course of reassembling, the polymerase complex backtracks and repeats the insertion of deoxyribonucleotides that were previously added. (wikipedia.org)
Therefore, replication slippage leads to a form of trinucleotide expansion which results in serious changes to protein structure. (wikipedia.org)
Whole-genome1
To estimate the genome-wide pattern of mutations at STR loci, we analyze blood-derived whole-genome sequencing data for 544 individuals from 29 three-generation CEPH pedigrees. (biomedcentral.com)
Genome3
Some of these tools are designed to detect STR expansions at disease-related loci, while others detect expansions and contractions of STRs genome-wide but are constrained by sequencing read length and the STR motif size. (biomedcentral.com)
The recently acquired genome sequence of globe artichoke (Cynara cardunculus var. (researchgate.net)
The same search parameters were applied to reveal the SSR content of 14 other plant species for which genome sequence is available. (researchgate.net)
Genomic1
The Web site "www.artichokegenome.unito.it" hosts all the available genomic sequences, together with their structural/functional annotations and project information are presented to users via the open-source tool JBrowse, allowing the analysis of collinearity and the discovery of genomic variants, thus representing a one-stop resource for Cynara cardunculus genomics. (researchgate.net)
Repetitive3
Slipped strand mispairing is one explanation for the origin and evolution of repetitive DNA sequences. (wikipedia.org)
Due to the repetitive structure of STRs and their high mutability, sequencing and genotyping these loci is difficult, especially using short-read sequencing data. (biomedcentral.com)
Although trinucleotide contraction is possible, trinucleotide expansion occurs more frequently. (wikipedia.org)
Genomes1
The HD gene is found in all human genomes. (wikipedia.org)
Imperfect2
Perfect repeats mutate about 2 × more often than imperfect repeats. (biomedcentral.com)
A total of 4,761 perfect and 6,583 imperfect SSRs were present in 3,781 genes (14.11% of the total), corresponding to an overall density across the gene space of 32,5 and 44,9 SSRs/Mbp for perfect and imperfect motifs, respectively. (researchgate.net)
Locus1
The expansion of the HD locus results in a dysfunctional protein leading to Huntington's disease. (wikipedia.org)
If these repeats are found in coding regions then the variations to the polynucleotide sequence can result in the formation of abnormal proteins in eukaryotes. (wikipedia.org)
Present2
However, an affected individual will have 36- 121 repeats present. (wikipedia.org)
The SSRs were categorized for the numbers of repeats present, their overall length and were allocated to their linkage group. (researchgate.net)
Type1
These include spinal and bulbar muscular atrophy ( trinucleotide expansion in the AR gene), dentatorubral-pallidoluysian atrophy ( trinucleotide expansion in the DRPLA gene), spinocerebellar ataxia type 1 ( trinucleotide expansion in the SCA1gene), Machado-Joseph disease ( trinucleotide expansion in the SCA3 gene), myotonic dystrophy ( trinucleotide expansion in the DMPK gene), and Friedreich's ataxia ( a trinuncleotide expansion in the X25 gene). (wikipedia.org)
Longer1
Insertions are thought to be self-accelerating: as repeats grow longer, the probability of subsequent mispairing events increases. (wikipedia.org)
Results1
This results in some repeats found in the template strand being replicated twice into the daughter strand. (wikipedia.org)
Single1
For example, insertion of a single repeat unit in GAGAGA expands the sequence to GAGAGAGA, while insertion of two repeat units in [GA]6 would produce [GA]8. (wikipedia.org)
Simple1
scolymus) has been used to catalog the genome's content of simple sequence repeat (SSR) markers. (researchgate.net)
Units1
In long repeats, expansions may involve two or more units. (wikipedia.org)
Human1
Many human diseases have been reported to be associated with trinucleotide repeat expansions including Huntington's disease. (wikipedia.org)
Function1
A putative function has been assigned, using the gene ontology approach, to the set of genes harboring at least one SSR. (researchgate.net)
Characterization1
Different molecular characterization approaches have been used simultaneously in eucalypts, however, microsatellites or simple sequence repeats (SSRs) with their prolific characteristics could occupy a special niche in Eucalyptus genetic improvement. (springeropen.com)
Variations2
If these repeats are found in coding regions then the variations to the polynucleotide sequence can result in the formation of abnormal proteins in eukaryotes. (wikipedia.org)
Similar studies in eucalypts may provide new insights into the genetic architecture of transcript-level variations and post transcriptional gene regulation. (springeropen.com)
Proteins2
Nucleotide excision repair proteins are mobilized to this area where one likely outcome is the expansion of nucleotides in the template strand while the other is the absence of nucleotides. (wikipedia.org)
In addition to repeats, analysis of the coding region reported 23 full-length eukaryotic orthologous proteins (KOGS) and another 29 novel or orthologous genes. (plos.org)
Main2
Slippage occurs through five main stages: In the first step, DNA polymerase encounters the direct repeat during the replication process. (wikipedia.org)
Tandem repeats (the main influence for slippage replication) can be found in coding and non-coding regions. (wikipedia.org)
Long1
In long repeats, expansions may involve two or more units. (wikipedia.org)
High1
Increased ploidy level and individual repeats in high copy number are common in angiosperms but are rarely seen in gymnosperms [4] , [5] . (plos.org)
Individual1
An individual who is not affected by Huntington's disease will have 6-35 tandem repeats at the HD locus. (wikipedia.org)
Found2
This results in some repeats found in the template strand being replicated twice into the daughter strand. (wikipedia.org)
The HD gene is found in all human genomes. (wikipedia.org)
Markers2
Trinucleotide repeats (TNRs) are of interest in genetics because they are used as markers for tracing genotype-phenotype relations and because they are directly involved in numerous human genetic diseases. (nih.gov)
To evaluate the origin and time since spreading of the 999del5 mutation in Iceland and in Finland, we constructed haplotypes with polymorphic markers within and flanking the BRCA2 gene in a set of 18 Icelandic and 10 Finnish 999del5 breast cancer families. (nih.gov)
Identify2
A combination of homology and de novo methodologies were applied to identify both conserved and novel repeats. (plos.org)
Eucalyptus genetic linkage maps generated with microsatellite loci were used successfully to identify quantitative trait loci (QTLs) for various economically important traits. (springeropen.com)
Previously1
DNA polymerase reassembles its position on the template strand and resumes normal replication, but during the course of reassembling, the polymerase complex backtracks and repeats the insertion of deoxyribonucleotides that were previously added. (wikipedia.org)
Reference1
Following the completion of these large assemblies, annotation efforts will be undertaken to characterize the reference sequences. (plos.org)
Area1
The surprising finding of the same mutation in two completely different haplotypes in a sparsely populated area in Finland may suggest gene conversion. (nih.gov)