Length, orientation, and plant host influence the mutation frequency in microsatellites

Azaiez, Aïda; Bouchard, Éric F.; Jean, Martine; Belzile, François

doi:10.1139/g06-099

Cited by 27 publications

(29 citation statements)

References 34 publications

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“…To study the effect of parental reproductive age on somatic mutation rates in the progeny, we made use of various Arabidopsis transgenic lines carrying mutated or fragmented versions of the uidA reporter gene encoding GUS (Liu and Crawford, 1998;Kovalchuk et al, 2000;Li et al, 2004;Azaiez et al, 2006;Van der Auwera et al, 2008). These mutation reporter lines carrying a nonfunctional uidA gene enabled us to score somatic frameshift mutations, base substitutions, intrachromosomal recombination (ICR), and transpositions events, which led to the formation of a functional uidA gene.…”

Section: Resultsmentioning

confidence: 99%

“…To assess the effect of parental reproductive age on frameshift mutation rates in the progeny, Col-0 plants containing an out-of-frame mononucleotide guanine repeat (G10) in the uidA reporter gene (Azaiez et al, 2006) were used for crosses between parents of different ages. Frameshift mutations occurring in this repeat can restore the function of the uidA gene because of the addition or deletion of guanine bases.…”

Section: Parental Age Increases Frameshift Mutation Rates In the Progenymentioning

confidence: 99%

“…Transgenic ICR lines (R2L1 and R3L30) carrying inverted catalase introns in the uidA gene and the frameshift detector line (G10) were a gift from Francois Belzile (Li et al, 2004;Azaiez et al, 2006). The transposition detection line harboring the transposable Tag1 element was a gift from Nigel M. Crawford (Liu and Crawford, 1998).…”

Section: Plant Materialsmentioning

confidence: 99%

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Parental Age Affects Somatic Mutation Rates in the Progeny of Flowering Plants

et al. 2015

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In humans, it is well known that the parental reproductive age has a strong influence on mutations transmitted to their progeny. Meiotic nondisjunction is known to increase in older mothers, and base substitutions tend to go up with paternal reproductive age. Hence, it is clear that the germinal mutation rates are a function of both maternal and paternal ages in humans. In contrast, it is unknown whether the parental reproductive age has an effect on somatic mutation rates in the progeny, because these are rare and difficult to detect. To address this question, we took advantage of the plant model system Arabidopsis (Arabidopsis thaliana), where mutation detector lines allow for an easy quantitation of somatic mutations, to test the effect of parental age on somatic mutation rates in the progeny. Although we found no significant effect of parental age on base substitutions, we found that frameshift mutations and transposition events increased in the progeny of older parents, an effect that is stronger through the maternal line. In contrast, intrachromosomal recombination events in the progeny decrease with the age of the parents in a parent-of-origin-dependent manner. Our results clearly show that parental reproductive age affects somatic mutation rates in the progeny and, thus, that some form of age-dependent information, which affects the frequency of double-strand breaks and possibly other processes involved in maintaining genome integrity, is transmitted through the gametes.

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Section: Resultsmentioning

confidence: 99%

Section: Parental Age Increases Frameshift Mutation Rates In the Progenymentioning

confidence: 99%

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Parental Age Affects Somatic Mutation Rates in the Progeny of Flowering Plants

et al. 2015

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“…For example, a whole-plant analysis of a (GT) 17 reporter construct in Arabidopsis thaliana implies a mutation rate of 9.10 3 10 À6 /allele/cell division (Leonard et al 2003), which is $5.2 times the expected rate for C. elegans loci with this number of repeats. The per-generation rate of mutation for a (G) 16 mononucleotide repeat in the same species (Azaiez et al 2006) is $350 times the per-cell-division rate for a (G) 18 repeat in S. cerevisiae (Sia et al 1997(Sia et al , 2001. In a survey of maize microsatellites with a wide variety of motifs, Vigouroux et al (2002) estimate an average per-generation mutation rate for loci with an average of 24.5 repeats, which after accounting for the estimated 49 cell divisions per life cycle (in the cellular line of descent from seed to seed) (Otto and Walbot 1990), yields a rate per cell division of 1.57 3 10 À5 / allele, $2.6 times the expected rate for C. elegans loci of comparable length.…”

Section: Discussionmentioning

confidence: 99%

The Rate and Spectrum of Microsatellite Mutation in Caenorhabditis elegans and Daphnia pulex

et al. 2008

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The effective use of microsatellite loci as tools for microevolutionary analysis requires knowledge of the factors influencing the rate and pattern of mutation, much of which is derived from indirect inference from population samples. Interspecific variation in microsatellite stability also provides a glimpse into aspects of phylogenetic constancy of mutational processes. Using long-term series of mutation-accumulation lines, we have obtained direct estimates of the spectrum of microsatellite mutations in two model systems: the nematode Caenorhabditis elegans and the microcrustacean Daphnia pulex. Although the scaling of the mutation rate with the number of tandem repeats is highly consistent across distantly related species, including yeast and human, the per-cell-division mutation rate appears to be elevated in multicellular species. Contrary to the expectations under the stepwise mutation model, most microsatellite mutations in C. elegans and D. pulex involve changes of multiple repeat units, with expansions being much more common than contractions.

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“…In some cases, nuclear microsatellite instability is remarkably high: in chickpea, indels were found at an average rate of 2.9 ϫ 10 Ϫ3 to 10 ϫ 10 Ϫ3 per (TAA) n locus per generation (36). An even higher rate of somatic instability was found for mononucleotide microsatellites in reporter genes in Arabidopsis thaliana, with individual leaves having many sectors (2,3).…”

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confidence: 99%

Creation of a Chloroplast Microsatellite Reporter for Detection of Replication Slippage in Chlamydomonas reinhardtii

2008

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Microsatellites are composed of short tandem direct repeats; deletions or duplications of those repeats through the process of replication slippage result in microsatellite instability relative to other genomic loci. Variation in repeat number occurs so frequently that microsatellites can be used for genotyping and forensic analysis. However, an accurate assessment of the rates of change can be difficult because the presence of many repeats makes it difficult to determine whether changes have occurred through single or multiple events. The current study was undertaken to experimentally assess the rates of replication slippage that occur in vivo in the chloroplast DNA of Chlamydomonas reinhardtii. A reporter construct was created in which a stretch of AAAG repeats was inserted into a functional gene to allow changes to be observed when they occurred at the synthetic microsatellite. Restoration of the reading frame occurred through replication slippage in 15 of every million viable cells. Since only one-third of the potential insertion/deletion events would restore the reading frame, the frequency of change could be deduced to be 4.5 ؋ 10 ؊5 . Analysis of the slippage events showed that template slippage was the primary event, resulting in deletions rather than duplications. These findings contrasted with events observed in Escherichia coli during maintenance of the plasmid, where duplications were the rule.Microsatellite sequences, also called simple sequence repeats (SSRs), are short tandem DNA repeats, 1 to 6 bases long, commonly found in the genomes of eukaryotes and some prokaryotes (4,6,12,40). These repeats, which are present in both the noncoding and coding regions of genomes, are unstable, undergoing additions or deletions of one or more repeat units, leading to variations in the length of the microsatellite (17,35,38). In most cases, the insertions or deletions (indels) occur as a consequence of slippage of the template or daughter strand at the replication fork (16,18). Although a similar indel could theoretically occur through intra-or intermolecular recombination, homologous recombination does not appear to be involved in microsatellite variability, since the variation is independent of homologous recombination factors, such as the RecA protein (18).Because of their abundance and variability, microsatellite loci have been used extensively as genetic markers in evolutionary and ecological studies of natural populations in eukaryotes (14, 37) and also as highly polymorphic markers for forensics and genotyping of animals (39). Well-saturated microsatellite maps have been developed for nuclear genomes from a number of plants, including rice, maize, barley, Arabidopsis, and soybean (14,23). In some cases, nuclear microsatellite instability is remarkably high: in chickpea, indels were found at an average rate of 2.9 ϫ 10 Ϫ3 to 10 ϫ 10 Ϫ3 per (TAA) n locus per generation (36). An even higher rate of somatic instability was found for mononucleotide microsatellites in reporter genes in Arabidopsis thaliana, wi...

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Length, orientation, and plant host influence the mutation frequency in microsatellites

Cited by 27 publications

References 34 publications

Parental Age Affects Somatic Mutation Rates in the Progeny of Flowering Plants

Parental Age Affects Somatic Mutation Rates in the Progeny of Flowering Plants

The Rate and Spectrum of Microsatellite Mutation in Caenorhabditis elegans and Daphnia pulex

Creation of a Chloroplast Microsatellite Reporter for Detection of Replication Slippage in Chlamydomonas reinhardtii

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