Assignment1 of FRA1H common fragile site to human chromosome band 1q42.1 proximal to the nuclear NAD+ ADP-ribosyltransferase gene (ADPRT) and to the main 5S rRNA gene locus

@article{Pelliccia1998Assignment1OF,
  title={Assignment1 of FRA1H common fragile site to human chromosome band 1q42.1 proximal to the nuclear NAD+ ADP-ribosyltransferase gene (ADPRT) and to the main 5S rRNA gene locus},
  author={Franca Pelliccia and Maria Zaira Limongi and Lucia Gaddini and Angela Rocchi},
  journal={Cytogenetic and Genome Research},
  year={1998},
  volume={82},
  pages={121 - 122}
}
The DAPI-inducible human common fragile site that cytologically corresponds to the 5-azacytidine inducible site FRA1H is located at chromosome region 1q42 (Pelliccia and Rocchi, 1986; Sutherland et al., 1985). In the same region, a locus implicated in coding NAD+ ADP-ribosyl transferase (ADPRT alias PARP) (Baumgartner et al.,1992), and the main cluster of the 5S rRNA genes (Lomholt et al., 1995) have been mapped. In this work we have simultaneously mapped and ordered these three markers. Common… 

Figures from this paper

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.
Are common fragile sites merely structural domains or highly organized “functional” units susceptible to oncogenic stress?
TLDR
It is proposed that CFSs are not only susceptible structural domains, but highly organized “functional” entities that when targeted, severe repercussion for cell homeostasis occurs.
Reproducibility of volumetric measurements of normal maculae with the Heidelberg retina tomograph
TLDR
Good reproducibility for volumetric measurements at the macula was found with the HRT using the above technique in normal subjects and may be extremely useful for the identification and quantification of diabetic macular oedema and for monitoring the effects of argon laser photocoagulation.
Improvement of reproducibility of macular volume measurements using the Heidelberg retinal tomograph
TLDR
The modification of VARP measurements between scans of the same eye has improved the COV from 31% to 9% in eyes with diabetic macular oedema.
RETINAL THICKNESS IN DIABETIC RETINOPATHY: A Study Using Optical Coherence Tomography (OCT)
TLDR
Retinal thickening correlated with fluorescein leakage in the angiograms to some extent, and there was an intermediate correlation between retinal thickness and visual acuity, particularly in patients without macular ischemia.
Reproducibility of volumetric macular measurements in diabetic patients with the Heidelberg Retina Tomograph
TLDR
The reproducibility of this technique by confocal scanning laser ophthalmoscopy in diabetic eyes may have useful clinical applications for the quantification of diabetic macular edema and monitoring of laser therapy.
Correlation of a scanning laser derived oedema index and visual function following grid laser treatment for diabetic macular oedema
TLDR
The study has objectively documented change in the magnitude and distribution of DMO following grid laser treatment and has established the relation of this change to the change in visual function.
Exaggerated relative nasal-temporal asymmetry of macular capillary blood flow in patients with clinically significant diabetic macular oedema
TLDR
Capillary blood flow was reduced in areas of DMO and capillary leakage, suggesting the presence of a localised perturbation of capillary water flow regulation.
Laser imaging of the retina
TLDR
The development of the scanning laser ophthalmoscope (SLO) heralded the first widespread application of lasers for retinal imaging and offers the ability to do quantitative imaging, multispectral imaging, and three dimensional imaging.
A reference standard for the measurement of macular oedema
  • K. Goatman
  • Medicine
    British Journal of Ophthalmology
  • 2006
TLDR
Four techniques are examined to determine the best reference standard for the detection and quantification of macular oedema: ultrasound, optical coherence tomography, the retinal thickness analyser, and the scanning laser ophthalmoscope.
...
...

References

SHOWING 1-8 OF 8 REFERENCES
Additional assignment of the human 5S rRNA genes to chromosome region 1q31.
TLDR
Through in situ hybridization of different tritiated probes to metaphase spreads, it is demonstrated that a minor fraction of the 5S rRNA genes is localized at band 1q31.13.
Fluorescence in situ mapping of the human nuclear NAD+ ADP-ribosyltransferase gene (ADPRT) and two secondary sites to human chromosomal bands 1q42, 13q34, and 14q24.
A 3.5-kb cDNA probe containing the 23 exons from the coding sequence of human nuclear NAD+ ADP-ribosyltransferase (poly [ADP-ribose] polymerase [ADPRT], E.C.2.4.2.30) was used to map the gene and two
Synergistic effect of DAPI and thymidylate stress conditions on the induction of common fragile sites.
TLDR
The results point to the existence of a synergism between DAPI and thymidylate-stress culture conditions in inducing site-specific chromosome damage and agree with the hypothesis that DAPI-induced CFRA sites are DNA late-replicating chromosomal areas rich in AT bases.
PARP is important for genomic stability but dispensable in apoptosis.
TLDR
Although PARP is specifically cleaved during apoptosis, cells lacking this molecule apoptosed normally in response to treatment with anti-Fas, tumor neurosis factor alpha, gamma-irradiation, and dexamethasone, indicating thatPARP is dispensable in apoptosis and that PARP-/- thymocytes are not hypersensitive to ionizing radiation.
DAPI-inducible common fragile sites.
DAPI, a compound specific for the AT bases of DNA, causes gaps and breaks in three human chromosome sites, at the 1q41-1q42 interface, 2q31, and 7p22. It also induces undercondensation of a
Human nuclear NAD+ ADP-ribosyltransferase(polymerizing): organization of the gene.
TLDR
It is reported that the human pADPRT gene is 43 kb in length and is split into 23 exons, and all the intron-exon boundaries correspond to a canonical splice consensus sequence.