High-resolution R-banding and localization  of fragile sites in Oryctolagus cuniculus

Poulsen, BS; Rønne, M.

doi:10.1051/gse:19910734

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“…Although chromosomal fragility has been documented for a variety of mammalian species (Sanz et al 1986;Uchida et al 1986;Robinson and Elder 1987;Tewari et al 1987;Simi et al 1990;Smeets and van de Klundert 1990;Poulsen and Ronne 1991;Stone et al 1991;Ronne 1992;Riggs et al 1993), there are no available data concerning fragile site variation within or among natural populations. In this study, we apply the statistical methodology of Böhm et al (1995) to identify and compare APC-induced chromosomal fragile sites among deer mice (Peromyscus maniculatus) from a natural popu-lation.…”

Section: Bryant F Mcallister · Ira F Greenbaummentioning

confidence: 99%

How common are common fragile sites: variation of aphidicolin-induced chromosomal fragile sites in a population of the deer mouse ( Peromyscus maniculatus )

McAllister

Greenbaum

1997

Human Genetics

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Aphidicolin (APC)-induced chromosomal gaps and breaks were analyzed for ten deer mice (Peromyscus maniculatus) from a natural population. The FSM statistical methodology was used to identify fragile sites as chromosomal loci exhibiting significantly non-random numbers of gaps/breaks in each individual and enabled an assessment of variation in fragile sites among the individuals. The individual deer mice exhibited as few as 7 to as many as 19 of the populational total of 34 sites. Two sites were fragile in all individuals and 13 sites were fragile in single individuals only. Defined by populational frequencies of greater than 50%, high-frequency fragile sites constituted 26% of the populational total. Approximately 35% of the total fragile sites were fragile in 20-40% of the population (low-frequency fragile sites) and about 38% were fragile in single individuals only. Analysis of the data pooled over all individuals identified significantly non-random breakage at 80 sites, 47 of which were not identified as fragile in any single individual. It appears, therefore, that fragile site identifications from pooled data have fostered an inflated estimate of the numbers and frequencies of common fragile sites. Comparison of the fragile site and spontaneous breakage (control) data suggest that APC-induced fragile sites represent regions of chromosomes that experience elevated levels of somatic mutation. Additionally, the occurrence of APC-induced fragile sites at or near the interstitial breakpoints of two pericentric-inversion polymorphisms in this population supports the hypothesis that fragile sites experience an increased rate of meiotic chromosomal mutation and are predisposed to undergo phylogenetic rearrangement.

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Section: Bryant F Mcallister · Ira F Greenbaummentioning

confidence: 99%

How common are common fragile sites: variation of aphidicolin-induced chromosomal fragile sites in a population of the deer mouse ( Peromyscus maniculatus )

McAllister

Greenbaum

1997

Human Genetics

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“…FRAXA and FRAXE are observed in individuals with mental retardation and both associated with the amplification of a triplet; in FRAXA the triplet is located in the FMRl gene LVerkerk et al, 1991;Knight et al, 19931. Cytogenetic expression of FRAXA is seen in patients with a CGG repeat size larger than 200 copies and the site of fragility is most likely located within the CGG repeat [Kremer et al, 1991;Verkerk et al, 19921. Fragile sites can be found in many species, including chimpanzee, mouse, rat, Chinese hamster, Indian mole rat (Nesokia indicu), rabbit, dog, horse, and cow munis and Soreng, 1984;Sanz et al, 1986;Robinson and El-der, 1987;Simi et al, 1990;Tewari et al, 1987;Poulsen and Ronne, 1991;Stone et al, 1991;Ronne 1992;Uchida et al, 19861. In horse a fragile site at Xq27 may correspond to the human fragile site FRAXA [Ronne, 19921. In cattle a fragile site on the X chromosome is associated with a disease, the baldy calf syndrome, a progressively debilitating condition affecting Holstein calves [Houvet and Basrur, 19911. No animal model for the human fragile X syndrome is known. The FMRl gene is very conserved during evolution.…”

Section: Introductionmentioning

confidence: 99%

Conservation of CGG region in FMR1 gene in mammals

et al. 1994

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arc read hy the six nicnihcrs of the scicntific commiltcc. who a\sipn three score\ to each p a p r . one for irs originality. one lor its scicnritic value. and one tor it\ academic or clinical interest. Following dixus\ion at the scientific coiiiniittcc niceting. a prograrii is rnadc fiom the ahtract\ with the highest scores.In this btudy stati\tical propcrtics of the a\signcJ score values lor the 1902 ICS niccting are discussed It I\ concluded that the three \cores do not nicasurc independent properties of the abstract\. that dillbrcnt ahstract types (liw iwtancc "clinical" and "habic" paper>) are sccxed dillcrently hy the ditJcrcn! conlniittcc iliclnhcr\. that thcrc i s i) \ignificant consensus anionp thc coinmittcc iiicnihcr\. that the scientific coiiiniiltcc iiiecting has a relatively small eltcct on the scorcs. and th;it dttt'crcnt ahtract typcy arc not cqually rcprcxntcd in thc final program I IW-I wdr! I.,., ftt, Key words: International ('ontinence Society. abstracts, abstract scores, scores, scientific meeting INTROOUCTIONAbstracts submitted lor ICS meetings arc collected by that specific years' scientific chairman and anonymous versions of it are sent in the order in which they arc received t o the members of the scientific committee. Apart lrom the chairman this committee consists of the chairman of the previous year. the chairman of the next year, one local representative. and two ICS representatives. one scientific and one clinical representative that arc altcrnatingly elected by the ICS lor a 2 year period. All six committee members read all abstracts and assign three scores to each abstract [except to those they (co)authori: one for its originality. one for its scicntific value, and one for its academic or clinical interest. Each .\core ranks from 0 to 3. The chairman collccts all scorch in a database. After the deadline for abstract submittal has passed thc committec meets and discusses (still anonymous) all abstracts, with special attention to those abstracts that show wide discrepancies in scoring. committee men?bers can change the assigned scores. All scores arc added and finally a program is made up from the abstracts with the highest total scores. The cut-off p i n t for presentations is not predefined but derived from the distribution of scores and the number of available slots in the program.At the I902 scientific committee meeting some questions emerged regarding the scoring system that might be answered by statistical processing of the assigned scores. In this article the following aspects will be discussed:I . Are the scores normally distributed, and/or should they be normally distributed?2. Arc the three scores (lor originality. scientific value, and clinical or academic interest) mutually independent?3. Arc the scores dependent on the category o f the abstrxt and the background of the committee members? (for instance. do "basic science" papers score differently from "clinical papers" and are there differences between the scores from basic scientists and clinicians?) 4. Docs the scorin...

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High-resolution R-banding and localization of fragile sites in Oryctolagus cuniculus

Cited by 2 publications

References 0 publications

How common are common fragile sites: variation of aphidicolin-induced chromosomal fragile sites in a population of the deer mouse ( Peromyscus maniculatus )

How common are common fragile sites: variation of aphidicolin-induced chromosomal fragile sites in a population of the deer mouse ( Peromyscus maniculatus )

Conservation of CGG region in FMR1 gene in mammals

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