Mammalian recombination hot spot in a DNA loop anchorage region: A model for the study of common fragile sites

Svetlova, Ekaterina; Razin, S. V.; Debatisse, Michèlle

doi:10.1002/jcb.1081

Cited by 38 publications

(27 citation statements)

References 50 publications

(74 reference statements)

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“…In contrast, the DMPK sequence is 60% G ϩ C-rich, and the (CTG⅐CAG) n repeats are 67% G ϩ C-rich. Several prior studies (52,(72)(73)(74) have suggested that A ϩ T-rich sequences are recombinogenic. Therefore, it is possible that the ϳ60% A ϩ T richness of the phage fragments (contrasted to the ϳ40% A ϩ T content of the DMPK sequence) is at least partly responsible for the higher apparent recombination frequency for the 564-bp fragments.…”

Section: Instability Of the Ctg⅐cag Tracts In The Recombinationmentioning

confidence: 99%

Long CTG·CAG Repeats from Myotonic Dystrophy Are Preferred Sites for Intermolecular Recombination

Pluciennik

Iyer

Напиерала

et al. 2002

Journal of Biological Chemistry

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Homologous recombination was shown to enable the expansion of CTG⅐CAG repeat sequences. Other prior investigations revealed the involvement of replication and DNA repair in these genetic instabilities. Here we used a genetic assay to measure the frequency of homologous intermolecular recombination between two CTG⅐CAG tracts. When compared with non-repeating sequences of similar lengths, long (CTG⅐CAG) n repeats apparently recombine with an ϳ60-fold higher frequency. Sequence polymorphisms that interrupt the homogeneity of the CTG⅐CAG repeat tracts reduce the apparent recombination frequency as compared with the pure uninterrupted repeats. The orientation of the repeats relative to the origin of replication strongly influenced the apparent frequency of recombination. This suggests the involvement of DNA replication in the recombination process of triplet repeats. We propose that DNA polymerases stall within the CTG⅐CAG repeat tracts causing nicks or double-strand breaks that stimulate homologous recombination. The recombination process is RecA-dependent.Micro-and minisatellite instability has been associated with human genetic diseases (1-4). Approximately 14 hereditary neurological diseases are caused by the genetic instabilities of triplet repeat sequences (TRS) 1 in or near relevant genes (reviewed in Ref. 1). Long tracts of repeating CTG⅐CAG sequences are responsible for myotonic dystrophy and several other diseases. Normal individuals have 5-37 repeats in the myotonic dystrophy protein kinase gene, whereas the mutations (expansions) can be in the range of 50 -3000 repeats. Thus, an explosive allele length change during intergenerational transmission can occur in this autosomal dominant disease, thus causing an increase in the severity of the disease and a decrease of the age at onset (anticipation).The mechanisms of genetic instabilities have been widely investigated in the past 6 years (1). DNA replication (5-8) and repair including methyl-directed mismatch repair (9 -11), nucleotide excision repair (12), DNA polymerase III exonucleolytic proofreading (13), and double-strand break repair (14) have been implicated.Repetitive sequences promote homologous recombination in prokaryotic as well as eukaryotic systems, presumably by virtue of forming unusual DNA secondary structures (15)(16)(17)(18)(19)(20)(21)(22). In fact, homologous recombination has been implicated in the instability of repetitive sequences (23-26). Similar findings have also been made with CTG⅐CAG repeats using a two-plasmid system in Escherichia coli (27,28). Multiple fold expansions, deletions, and the exchange of point mutations between tracts were found in this system; these events were dependent on the presence of TRS tracts on both plasmids, CTG⅐CAG repeat lengths longer than 30, and a functional recA gene.Previously (29), it was proposed that CTG⅐CAG tracts might function as recombination hot spots in the bovine genome. More recently, Young et al. (30) surveyed the genome of Saccharomyces cerevisiae and suggested that these repeats cou...

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Section: Instability Of the Ctg⅐cag Tracts In The Recombinationmentioning

confidence: 99%

Long CTG·CAG Repeats from Myotonic Dystrophy Are Preferred Sites for Intermolecular Recombination

Pluciennik

Iyer

Напиерала

et al. 2002

Journal of Biological Chemistry

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“…14,15 OriGNAI3 was also revealed in nonamplified CHO cells with the "leading strand polarity" origin mapping technique. 16 Three-color painting of DNA fibers from three independent mutants repeatedly disclosed initiation events within a region centered on the one previously determined by the other methods (Fig. 2).…”

mentioning

confidence: 60%

“…Indeed, in CHO cells that exhibit a high activity of oriGNAI3, only the MAR containing that origin is attached in vivo to the matrix, as judged by its unique sensitivity to Topo2 inhibitor VM26. 16 Thus, it is tempting to speculate that the attachment of AT-rich sequences to the nuclear skeleton correlates with a high firing efficiency. Whether the alterations of nucleotide pools that modify the replication pattern at this locus also promote remodeling of chromatin loops is currently under investigation.…”

mentioning

confidence: 99%

Replication Initiation In Mammalian Cells: Changing Preferences

Debatisse

Toledo²,

Anglana³

2004

Cell Cycle

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“…Recombination in mitotic cells is reported for several species, ranging from placental mammals (Cornforth & Eberle, 2001;Svetlova et al, 2001) to insects (Stern, 1936;Bartsch et al, 1997) and yeast (Huang & Keil, 1995). For example, in the yeast Saccharomyces cerevisiae, the recombination hotspot HOT1 initiates mitotic recombination when inserted into novel locations throughout the genome (Huang & Keil, 1995).…”

Section: Discussionmentioning

confidence: 99%

Distribution of heterochromatin and rDNA on the holocentric chromosomes of the aphids Dysaphis plantaginea and Melanaphis pyraria (Hemiptera: Aphididae)

Criniti¹,

Simonazzi²,

Cassanelli³

et al. 2009

Eur. J. Entomol.

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Abstract. The structure of the holocentric chromosomes of the rosy apple aphid, Dysaphis plantaginea (2n = 12), and pear-grass aphid, Melanaphis pyraria (2n = 8), was studied using C-banding, NOR, Giemsa and fluorochrome staining, and fluorescent in situ hybridization (FISH). Contrary to the equilocal distribution of heterochromatin typical of monocentric chromosomes, in both species C-banding evidenced a tendency of highly repetitive DNAs to be restricted to the X chromosomes. Silver staining and FISH, using a 28S rDNA probe, located rDNA genes on one telomere of each X chromosome, the only brightly fluorescent C-positive sites revealed by CMA3 staining, whereas all other heterochromatic C-bands were DAPI positive. Both species showed a noticeable amount of rDNA heteromorphism. Mitotic recombination is proposed as a possible mechanism responsible for the variation in size of rDNA.

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Mammalian recombination hot spot in a DNA loop anchorage region: A model for the study of common fragile sites

Cited by 38 publications

References 50 publications

Long CTG·CAG Repeats from Myotonic Dystrophy Are Preferred Sites for Intermolecular Recombination

Long CTG·CAG Repeats from Myotonic Dystrophy Are Preferred Sites for Intermolecular Recombination

Replication Initiation In Mammalian Cells: Changing Preferences

Distribution of heterochromatin and rDNA on the holocentric chromosomes of the aphids Dysaphis plantaginea and Melanaphis pyraria (Hemiptera: Aphididae)

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