New common fragile sites

Hecht, Frederick; Tajara, Eloíza H.; Lockwood, David H.; Sandberg, Avery A.; Hecht, Barbara K.

doi:10.1016/0165-4608(88)90042-8

Cited by 35 publications

(23 citation statements)

References 5 publications

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“…Common FS are thought to be part of the normal chromosome structure and can be expressed in every individual (11). Nevertheless, they were also differentially expressed between different individuals, ethnic groups, sex and inducibility (12,19,20,23,24,25). According to the literature, the most frequently-detected FS are FRA3B (3p14.2) and FRA16D (16q23.2), which was confirmed in the current study.…”

Section: Discussionsupporting

confidence: 68%

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Global screening and extended nomenclature for 230 aphidicolin-inducible fragile sites, including 61 yet unreported ones

Weise¹

2010

Int J Oncol

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Abstract. Since the first description of human fragile sites (FS) more than 40 years ago, a variety of substances were reported to induce chromosomal breaks at non-random, breakage-prone regions. According to information available from human genome browsers aphidicolin, an inhibitor of DNA replication induces 77 of 88 known common FS. However, in the literature additional FS are reported, which are also, at least in part, inducible by aphidicolin. To the best of our knowledge, here we present the first and largest ever done systematic, whole genome-directed and comprehensive screening for aphidicolin-inducible breakage-prone regions. The study was performed on stimulated peripheral blood lymphocytes of 3 unrelated healthy individuals. Twenty-five thousand metaphase spreads were analyzed and overall 22,537 FS located in 230 different loci were recorded. Sixtyone of those FS were never observed before and 52 were already previously reported but not included in genome browsers and yet verified. Interestingly, aphidicolin was able to induce all types of rare and common FS, suggesting that these breakage-prone regions are less dependent on the inducing chemicals than originally supposed. Overall, we provide the first comprehensive genome wide map for FS and studied possible correlations of chromosome length and GTG-banding level with FS-frequency. To handle FS better in future, an extension of the already existing alphabetical nomenclature for FS on single chromosomes is suggested.

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Section: Discussionsupporting

confidence: 68%

“…FRA17D, this study) some authors (12,24,28) suggested a classification in high (HFFS) and low frequency FS (LFFS). This classification seems to be more reliable than the historical division in common and rare FS.…”

Section: ------------------------------------------------------------mentioning

confidence: 99%

Global screening and extended nomenclature for 230 aphidicolin-inducible fragile sites, including 61 yet unreported ones

Weise¹

2010

Int J Oncol

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“…For the 20 karyotypically-normal individuals, the total 4561 APC-induced breaks mapped to 333 different G-bands from 1816 metaphases (Table I); the C α value for the FSM analyses of the data from these individuals was 3 or 4. In the control population, FSM identified a total of 45 different fragile sites in the control population, 43 of which (95.6%) have been previously identified as common fragile sites in humans (Hecht et al, 1988, and1990). Neither APC-induced nor spontaneous chromosomal fragility was observed on the p-arms of chromosomes 14 or 21 in any of the control individuals.…”

Section: Resultsmentioning

confidence: 97%

“…The APC-inducible fragility at 14/21tr was either de novo (the result of fusion of nonfragile regions of the progenitor chromosomes), or was inherited from fragility in the p-arm(s) of one or both of the progenitor chromosomes 14 and 21. Although there are no reports of APC-inducible fragility on the p-arms of chromosomes 14 or 21 (Craig-Holmes et al, 1987;Hecht et al 1988 and1990; this report), few individuals have been assayed for such fragility. For any particular locus, documentation of fragility in relatively low populational frequency will require per-individual analysis of appropriately large populations of individuals or analyses of individuals expected to carry such fragility.…”

Section: Discussionmentioning

confidence: 99%

“…Twenty-two of these sites were also identified by FSM as fragile in the control population. Of the 50 different sites that were identified as fragile in the 23 individuals sampled, 49 have been previously reported as fragile in humans (Hecht et al, 1988 and1990). The previously unreported fragility occurred at or near the 14q21q-translocation region (14/21tr).…”

Section: Discussionmentioning

confidence: 99%

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Fragility in the 14q21q translocation region

Denison

Multani

Pathak³

et al. 2002

Genet. Mol. Biol.

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Aphidicolin (APC)-induced chromosomal breakage was analyzed for women representing three generations of a single family and carrying a Robertsonian translocation rob(14q21q). Fluorescence in situ hybridization (FISH) analysis confirmed the dicentric constitution of the derived chromosome and indicated the absence of β-satellite signal at the translocation region. Per-individual analysis of metaphases from APC-treated peripheral blood lymphocyte cultures identified significantly nonrandom chromosomal breakage at the translocation region in all three individuals examined. The APC-inducible fragility at the 14q21q translocation region suggests that this rearrangement was the result of chromosomal mutation at fragile site(s) in the progenitor chromosomes, or that this fragility was the result of the fusion of nonfragile progenitor chromosomes.

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Increased expression of aphidicolin-induced common fragile sites in Tourette syndrome: The key to understand the genetics of comorbid phenotypes?

et al. 1996

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In a comparison of 80 common aphidicolin‐induced fragile sites (FS) between 26 DSM‐IV Tourette syndrome (TS) and 24 control individuals, the mean of the summed break frequencies following mild aphidicolin pre‐treatment was significantly higher in TS individuals than in controls (P <0.001). Other breakpoints encountered during this study, i.e., random breaks, breaks corresponding to rare FS, and breakpoints recorded by others but not listed as common FS according to the Chromosome Coordinating Meeting [1992] were listed as category II breakpoints. By using the most significantly different mean FS breakage figures between TS and control individuals, further stepwise discriminant analysis allowed identification of TS individuals from only a few sites in both the common FS and category II breakpoint groups. Future research needs to focus on confirmation of altered common fragile site expression in association with behavioral variation, whether expression of certain discriminatory sites concurs with specific comorbid disorder expression; the nature of the molecular alterations at these FS and the implications of a genomic instability phenotype for the mapping of a primary TS gene or genes. © 1996 Wiley‐Liss, Inc.

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New common fragile sites

Cited by 35 publications

References 5 publications

Global screening and extended nomenclature for 230 aphidicolin-inducible fragile sites, including 61 yet unreported ones

Global screening and extended nomenclature for 230 aphidicolin-inducible fragile sites, including 61 yet unreported ones

Fragility in the 14q21q translocation region

Increased expression of aphidicolin-induced common fragile sites in Tourette syndrome: The key to understand the genetics of comorbid phenotypes?

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