Characterization of the human common fragile site FRA2G.

@article{Limongi2003CharacterizationOT,
  title={Characterization of the human common fragile site FRA2G.},
  author={Maria Zaira Limongi and Franca Pelliccia and Angela Rocchi},
  journal={Genomics},
  year={2003},
  volume={81 2},
  pages={
          93-7
        }
}

The neurobeachin gene spans the common fragile site FRA13A

TLDR
It is shown that FRA13A breaks are limited to a 650 kb region within the neurobeachin (NBEA) gene, which genomically spans approximately 730 kb.

Chromosome fragile sites.

TLDR
Long considered an intriguing component of chromosome structure, common fragile sites have taken on novel significance as regions of the genome that are particularly sensitive to replication stress and that are frequently rearranged in tumor cells.

The FRA14B common fragile site maps to a region prone to somatic and germline rearrangements within the large GPHN gene

TLDR
The data provide insight into the molecular structure of FRA14B, and identify GPHN, as a large cFS gene in the human genome, whose disruption appears to trigger various neurodevelopmental diseases.

Common Fragile Sites and Cancer: Targeted Cloning by Insertional Mutagenesis

TLDR
Common fragile sites are predetermined chromosomal breakage regions that can be demonstrated as site‐specific gaps or breaks seen on metaphase chromosomes under conditions of replicative stress and provide a platform for the efficient targeted cloning of a substantial number of common fragile sites.

Genomic rearrangements at the FRA2H common fragile site frequently involve non-homologous recombination events across LTR and L1(LINE) repeats

TLDR
Fine-mapped the location of FRA2H using six-colour fluorescence in situ hybridisation showed that it is one of the most active cFSs in the human genome and an analysis of breakpoint junction sequence motifs predominantly revealed signatures of microhomology-mediated non-homologous recombination events.

Molecular characterization of the human common fragile site FRA1H

TLDR
The FRA1H DNA sequence was analyzed to identify coding sequences, the AT content, the type and quantity of the DNA repeats, the CpG islands, the matrix attachment regions, and the number and distribution of high‐flexibility regions and a 120 kb long sequence was identified that may be involved in inducing fragility in the surrounding regions.

Mechanisms of Common Fragile Site Instability and Cancer.

TLDR
Stably transfected common fragile site sequences exhibit instability at ectopic sites and it was found that the integrated FRA3B sequences were not dependent on late replication for their fragility, the first direct evidence in human cells that introduction of CFS sequences into ectopic non-fragile loci is sufficient to recapitulate the instability found at CFSs.

References

SHOWING 1-10 OF 25 REFERENCES

FRA3B extends over a broad region and contains a spontaneous HPV16 integration site: direct evidence for the coincidence of viral integration sites and fragile sites.

TLDR
To the knowledge, this is the first molecular characterization of an in vivo viral integration event within a confirmed fragile site region, supporting previous cytogenetic observations linking viral integration sites and fragile sites.

The characterization of the common fragile site FRA16D and its involvement in multiple myeloma translocations.

TLDR
This work assembled a BAC contig of >1 Mb across the second most active common fragile site, FRA16D (16q23.2), and demonstrated that FRA 16D decondensation/breakage occurs over a region of at least 1 Mb, which is the largest common fragile sites cloned to date.

Molecular characterization of FRAXB and comparative common fragile site instability in cancer cells

TLDR
The hypothesis that common fragile sites and their associated genes are, in general, unstable in some cancer cells is supported, including FRAXB, which is not associated with any known tumor suppressor genes or activity.

Chromosomal fragile site FRA16D and DNA instability in cancer.

TLDR
The FRA16D chromosomal fragile site locus has a role to play in predisposing DNA sequences within and adjacent to the fragile site to DNA instability (such as deletion or translocation), which could lead to or be associated with neoplasia.

Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of a simian virus 40 integration site.

  • D. MishmarA. Rahat B. Kerem
  • Biology
    Proceedings of the National Academy of Sciences of the United States of America
  • 1998
TLDR
These unusual DNA characteristics are possibly intrinsic properties of common fragile sites that may affect their replication and condensation as well as organization, and may lead to fragility.

Cloning and characterization of the common fragile site FRA6F harboring a replicative senescence gene and frequently deleted in human tumors

TLDR
FRA6F may represent a landmark for the identification and cloning of genes involved in senescence, leukemia, cancer and schizophrenia, and it is found that tight clusters of stem-loop structures were localized exclusively in the two regions with greater frequency of breakage.

Fragile sites still breaking.

Cancer-specific chromosome alterations in the constitutive fragile region FRA3B.

  • K. MimoriT. Druck C. Croce
  • Biology
    Proceedings of the National Academy of Sciences of the United States of America
  • 1999
TLDR
It is found that aphidicolin-induced breakpoint clusters fall close to high-flexibility sequences, suggesting that these sequences contribute directly to aphidIColin- induced fragility.

FRA7G extends over a broad region: coincidence of human endogenous retroviral sequences (HERV-H) and small polydispersed circular DNAs (spcDNA) and fragile sites

TLDR
FISH-based analysis of three overlapping P1 clones reveals that aphidicolin-induced breakage in the FRA7G region occurs over a region of at least 300 Kb in length and there is an association with both spcDNAs and hot-spots for viral integration.

Chromosome breakage and recombination at fragile sites.

TLDR
The approach described provides a means of generating specific rearrangements in somatic cell hybrids with a breakpoint at a fragile site, supporting the hypothesis that the fragile site represents a repeated sequence.