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

Poulsen, BS; Rønne, Mogens

doi:10.1186/1297-9686-23-s1-s183

Cited by 8 publications

(5 citation statements)

References 6 publications

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“…(Paulsen and Ronne, 1991) and horse (Ronne, 1992). In river buffalo, Balakrishnan et al (1988) reported gaps on the X chromosome of anestrus females suggestive of a FS whereas Pires et al (1998) found FSs on the X chromosome in three breeds of river buffalo, but so far no detailed information is available on the localization of FSs on the karyotype of this species, whose banded karyotypes have been quite extensively characterized (Di Berardino et al, 1981;Di Berardino and Iannuzzi, 1984;Iannuzzi et al, 1990a) and standardized (CSKBB, 1994).…”

mentioning

confidence: 99%

Chromosomal expression and localization of aphidicolin-induced fragile sites in the standard karyotype of river buffalo <i>(Bubalus bubalis)</i>

Nicodemo

Coppola²,

Pauciullo³

et al. 2008

Cytogenet Genome Res

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The present study reports on the chromosomal expression and localization of aphidicolin-induced fragile sites in the standard karyotype of river buffalo (Bubalus bubalis, 2n = 50) with the aim of establishing a ‘fragile site map’ of the species. Totally, 400 aphidicolin-induced breakages were analyzed from eight young and clinically healthy animals, four males and four females; these breakages were localized in 106 RBG-negative chromosome bands or at the band-interband regions. The number of breakages per chromosome did not vary statistically ‘among’ the animals investigated but the differences among individual chromosomes were highly significant thus indicating that the chromosomal distribution of the breakages is not random and appears only partially related to chromosome length. Fragile sites were statistically determined as those chromosomal bands showing three or more breakages. In the river buffalo karyotype, 51 fragile sites were detected and localized on the standardized ideogram of the species. The most fragile bands were as follows: 9q213 with 24 breakages out of 400; 19q21 with 16, 17q21 and inacXq24 with 15, 15q23 with 13 and 13q23 with 12 breaks, respectively. Previous gene mapping analysis in this species has revealed that the closest loci to these fragile sites contain genes such as RASA1 and CAST (9q214), NPR3 and C9 (19q19), PLP and BTK (Xq24-q25), OarCP09 (15q24), and EDNRB (13q22) whose mutations are responsible for severe phenotypic malformations and immunodeficiency in humans as well as in mice and meat quality in pigs. Further cytogenetic and molecular studies are needed to fully exploit the biological significance of the fragile sites in karyotype evolution of domestic animals and their relationships with productive and reproductive efficiency of livestock.

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mentioning

confidence: 99%

Chromosomal expression and localization of aphidicolin-induced fragile sites in the standard karyotype of river buffalo <i>(Bubalus bubalis)</i>

Nicodemo

Coppola²,

Pauciullo³

et al. 2008

Cytogenet Genome Res

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“…These FSFS have been observed in lymphocytes from mouse ( Elder and Robinson, 1989 ), rat ( Elder and Robinson, 1989 ), river buffalo ( Pires et al, 1998 ), Indian mole rat ( Tewari et al, 1987 ), Persian vole ( Djalali et al, 1985 ), goats ( Lopez Corrales and Arruga, 1996 ), cattle ( Uchida et al, 1986 ), and domestic pig ( Yang and Long, 1993 ). Drugs such as trimethoprim, methotrexate, 5-azacytidine, 5-aza-2′deoxycytidine, amethopterin, and BrdU have been used to induce fragile site in non-human animals as well, including in cats ( Stone et al, 1993 ), dogs ( Stone et al, 1991 ), Persian vole ( Djalali et al, 1985 ), gorilla ( Schmid et al, 1985 ), chimpanzee ( Schmid et al, 1985 ), goats ( Lopez Corrales and Arruga, 1996 ), river buffalo ( Pires et al, 1998 ), Chinese hamster ( Coquelle et al, 1998 ), and rabbit ( Poulsen and Rønne, 1991 ). Furthermore, spontaneous (un-induced) fragile sites have been observed in cells from horse and pigs ( Riggs and Rønne, 2009 ).…”

Section: Characteristics Of Fragile Sitesmentioning

confidence: 99%

Fragile sites, chromosomal lesions, tandem repeats, and disease

Mirceta

Shum²,

Schmidt³

et al. 2022

Front. Genet.

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Expanded tandem repeat DNAs are associated with various unusual chromosomal lesions, despiralizations, multi-branched inter-chromosomal associations, and fragile sites. Fragile sites cytogenetically manifest as localized gaps or discontinuities in chromosome structure and are an important genetic, biological, and health-related phenomena. Common fragile sites (∼230), present in most individuals, are induced by aphidicolin and can be associated with cancer; of the 27 molecularly-mapped common sites, none are associated with a particular DNA sequence motif. Rare fragile sites (≳ 40 known), ≤ 5% of the population (may be as few as a single individual), can be associated with neurodevelopmental disease. All 10 molecularly-mapped folate-sensitive fragile sites, the largest category of rare fragile sites, are caused by gene-specific CGG/CCG tandem repeat expansions that are aberrantly CpG methylated and include FRAXA, FRAXE, FRAXF, FRA2A, FRA7A, FRA10A, FRA11A, FRA11B, FRA12A, and FRA16A. The minisatellite-associated rare fragile sites, FRA10B, FRA16B, can be induced by AT-rich DNA-ligands or nucleotide analogs. Despiralized lesions and multi-branched inter-chromosomal associations at the heterochromatic satellite repeats of chromosomes 1, 9, 16 are inducible by de-methylating agents like 5-azadeoxycytidine and can spontaneously arise in patients with ICF syndrome (Immunodeficiency Centromeric instability and Facial anomalies) with mutations in genes regulating DNA methylation. ICF individuals have hypomethylated satellites I-III, alpha-satellites, and subtelomeric repeats. Ribosomal repeats and subtelomeric D4Z4 megasatellites/macrosatellites, are associated with chromosome location, fragility, and disease. Telomere repeats can also assume fragile sites. Dietary deficiencies of folate or vitamin B12, or drug insults are associated with megaloblastic and/or pernicious anemia, that display chromosomes with fragile sites. The recent discovery of many new tandem repeat expansion loci, with varied repeat motifs, where motif lengths can range from mono-nucleotides to megabase units, could be the molecular cause of new fragile sites, or other chromosomal lesions. This review focuses on repeat-associated fragility, covering their induction, cytogenetics, epigenetics, cell type specificity, genetic instability (repeat instability, micronuclei, deletions/rearrangements, and sister chromatid exchange), unusual heritability, disease association, and penetrance. Understanding tandem repeat-associated chromosomal fragile sites provides insight to chromosome structure, genome packaging, genetic instability, and disease.

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“…BrdU-and/or folate-sensitive fragile sites were recently reported in the horse karyotype (R o nne, 1992). Aphidicolin (APC)-sensitive fragile sites have been detected in the chromosomes of mice (Djalali et al, 1987;Elder and Robinson, 1989;McAllister and Greenbaum, 1991), rats (Robinson and Elder, 1987), dogs (Wurster-Hill et al, 1988;Stone et al, 1991aStone et al, , 1991b, pigs (Riggs and Chrisman, 1991), and rabbits (Poulsen and Ronne, 1991). Folate-sensitive fragile sites were detected in the Persian vole (Djalali et al, 1985), the mouse (Sanz et al, 1986), cattle (Uchida et al, 1986), and in the Indian mole rat (Tewari et al, 1987 (Sutherland et al, 1984 (Schneider et al, 1980;Lin et al, 1984;Fundia and Larripa, 1989), the highest expression of common BrdUsensitive fragile sites in human lymphocytes was achieved after 4-12 h of treatment (Sutherland et al, 1984.…”

Section: Introductionmentioning

confidence: 99%

Identification of common fragile sites in chromosomes of 2 species of bat (Chiroptera, Mammalia)

Morielle-Versute¹,

Varella-Garcia²

1994

Genet. Sel. Evol.

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

Cited by 8 publications

References 6 publications

Chromosomal expression and localization of aphidicolin-induced fragile sites in the standard karyotype of river buffalo <i>(Bubalus bubalis)</i>

Chromosomal expression and localization of aphidicolin-induced fragile sites in the standard karyotype of river buffalo <i>(Bubalus bubalis)</i>

Fragile sites, chromosomal lesions, tandem repeats, and disease

Identification of common fragile sites in chromosomes of 2 species of bat (Chiroptera, Mammalia)

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