New heritable fragile site with spontaneous expression at 1q41

Dar, Hanna; Bar-El, Hanna; Ziv, Mira; Shapiro, I.

doi:10.1002/ajmg.1320550202

Cited by 5 publications

(9 citation statements)

References 6 publications

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“…Hence, putative novel fragile sites that are present in all cells and do not require induction, are unlikely to be fragile sites. Rare reports of such phenomena occur and their origins and nature are obscure [22–24]. Some could be satellite stalks that have been inserted into a chromosome [25].…”

Section: Novel Fragile Sitesmentioning

confidence: 99%

The clinical significance of fragile sites on human chromosomes

Sutherland

Baker

2000

Clinical Genetics

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Fragile X syndrome is now a well established common clinical entity and most of those who are aware of the condition probably know that it takes its name from a rare fragile site (FRAXA) on the X chromosome. This is the best known fragile site and its clinical significance is clear. Similar, but a little less known is FRAXE, a fragile site close to that associated with fragile X syndrome, but in this case associated with a mild form of non-specific X-linked mental retardation. These are the only two fragile sites that are unequivocally of clinical significance. A fragile site within the CBL2 oncogene on chromosome 11 has been mapped very close to the deletion breakpoint in a handful of patients with Jacobsen syndrome. It is doubtful that parents with FRA11B are at increased risk of having children with Jacobsen syndrome, but this cannot be ruled out. The common fragile sites have been implicated in oncogenesis since shortly after their discovery in the early 1980s. While a couple of these are within genes that have been implicated in cancer it is unclear whether either the fragile sites, or the genes in which they are located are important in cancer. It may be that the common fragile sites are regions of genomic instability and that this instability is increased in malignant cells, analogous to the enhanced instability seen at microsatellite loci in a number of tumours. Since we all have the common fragile sites there is no suggestion that they give anyone an increased risk of developing malignant disease. In dealing with patients who are found to have fragile sites, other than FRAXA, FRAXE and possibly FRA11B, considerable reassurance can be given that they are not at increased risk of having children with congenital disease or developing disease themselves because of their fragile sites.

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Section: Novel Fragile Sitesmentioning

confidence: 99%

The clinical significance of fragile sites on human chromosomes

Sutherland

Baker

2000

Clinical Genetics

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“…Only a few fragile sites on human chromosomes have been reported which are expressed spontaneously: 16q22, 10q25, 17p12 and 1q41, etc. (Sutherland et al, 1984;Petit and Fryns, 1985;Dar et al, 1995). Fragile sites 1q41 and 2q11 are the only fragile sites with spontaneous 100% expression (Anneren and Gustavson, 1981;Dar et al, 1995).…”

Section: Discussionmentioning

confidence: 99%

“…(Sutherland et al, 1984;Petit and Fryns, 1985;Dar et al, 1995). Fragile sites 1q41 and 2q11 are the only fragile sites with spontaneous 100% expression (Anneren and Gustavson, 1981;Dar et al, 1995). Karadeniz et al (2003) described the fragile site at 15q13 which was spontaneously expressed in both members of a non-consanguineous couple with recurrent abortions.…”

Section: Discussionmentioning

confidence: 99%

A new heritable fragile site at 15q13 in a three-generation family

Zamani

Durakbasi-Dursun²,

Acar³

2007

Cytogenet Genome Res

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Here, we describe a family ascertained through recurrent spontaneous abortions in which a new heritable fragile site located at 15q13 is segregating. The fragile site was present in nine members of a three-generation family and expressed spontaneously in a high proportion of the metaphases varying from 88 to 95% under standard culture conditions in all the carriers. This didn’t change under folate deficiency.

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“…Experimentally, they become visible when cells are cultured under conditions that inhibit DNA replication or repair. This is not to imply that they are more experimental artefacts; spontaneous expression of chromosomal instability in these regions has been also observed 3–9. Up to date, at least 120 chromosomal loci have been identified as fragile sites in the human genome, mostly in lymphoblastoid cells 〈http://www.ncbi.nlm.nih.gov/LocusLink/list.cgi〉 (Table 1).…”

Section: Introductionmentioning

confidence: 99%

“…This is not to imply that they are more experimental artefacts; spontaneous expression of chromosomal instability in these regions has been also observed. [3][4][5][6][7][8][9] Up to date, at least 120 chromosomal loci have been identified as fragile sites in the human genome, mostly in lymphoblastoid cells <http://www.ncbi.nlm.nih.gov/Locus-Link/list.cgi> (TABLE 1). However, their total number is a matter of interpretation and is likely to rise when additional cell types derived from other embryonal lineages will be surveyed.…”

Section: Introductionmentioning

confidence: 99%

Common Fragile Sites and Cancer: Targeted Cloning by Insertional Mutagenesis

Bushell¹

2004

Annals of the New York Academy of Sciences

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Genetic instability is an important facet of carcinogenesis and oncogenesis, generating chromosomal variability and extensive intratumor heterogeneity. Common fragile sites are predetermined chromosomal breakage regions. Experimentally, they can be demonstrated as site-specific gaps or breaks seen on metaphase chromosomes under conditions of replicative stress. They have been known for many years as a chromosomal expression of genetic instability and have been implicated to have a causative role in cancer. However, common fragile sites still remain enigmatic intrinsic parts of human chromosomes, and the DNA sequences at most of the fragile sites have not been identified so far. The idea of genetically tagging fragile site DNA by insertional mutagenesis through an exogenous marker gene has provided a platform for the efficient targeted cloning of a substantial number of common fragile sites.

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New heritable fragile site with spontaneous expression at 1q41

Cited by 5 publications

References 6 publications

The clinical significance of fragile sites on human chromosomes

The clinical significance of fragile sites on human chromosomes

A new heritable fragile site at 15q13 in a three-generation family

Common Fragile Sites and Cancer: Targeted Cloning by Insertional Mutagenesis

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