Cytogenetic and molecular characterization of�eight new reciprocal
translocations in the pig species. Estimation of their incidence 
in French populations

Ducos, Alain; Pinton, Alain; Yerle, Martine; Séguéla, A.; Berland, HM; Brun-Baronnat, Corinne; Bonnet, N.; Darré, Roland

doi:10.1051/gse:2002014

Cited by 11 publications

(16 citation statements)

References 12 publications

(16 reference statements)

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“…That is to say, one young boar out of two hundred is likely to carry a structural chromosomal rearrangement. This confirmed the estimate obtained in 2002 from a much smaller sample [8]. It is also consistent with the estimated value in humans at birth (0.43% [13]).…”

Section: Discussionsupporting

confidence: 81%

“…For some particular rearrangements, the hypotheses concerning the chromosomes involved and/or the location of breakpoints on the chromosomes were verified using molecular cytogenetic techniques: chromosome painting (probes generated using flow-sorted or microdissected chromosomes [8,15,18]), fluorescent in situ hybridisation using probes generated from BAC clones [17]. [7]).…”

Section: Methodsmentioning

confidence: 99%

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Chromosomal control of pig populations in France: 2002–2006 survey

et al. 2007

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-The chromosomal control of pig populations has been widely developed in France over the last ten years. By December 31st, 2006, 13 765 individuals had been karyotyped in our laboratory, 62% of these since 2002. Ninety percent were young purebred boars controlled before service in artificial insemination centres, and 3% were hypoprolific boars. So far, 102 constitutional structural chromosomal rearrangements (67 since 2002) have been described. Fiftysix were reciprocal translocations and 8 peri-or paracentric inversions. For the first time since the beginning of the programme and after more than 11 000 pigs had been karyotyped, one Robertsonian translocation was identified in 2005 and two others in 2006. The estimated prevalence of balanced structural chromosomal rearrangements in a sample of more than 7700 young boars controlled before service was 0.47%. Twenty-one of the 67 rearrangements described since 2002 were identified in hypoprolific boars. All were reciprocal translocations. Twelve mosaics (XX/XY in 11 individuals, XY/XXY in one individual) were also diagnosed. Two corresponded to hypoprolific boars, and three to intersexed animals. The results presented in this communication would justify an intensification of the chromosomal control of French and, on a broader scale, European and North-American pig populations.chromosome / translocation / inversion / pig / reproductive performance

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Section: Discussionsupporting

confidence: 81%

Section: Methodsmentioning

confidence: 99%

Chromosomal control of pig populations in France: 2002–2006 survey

et al. 2007

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“…The estimated frequency in live born infants is about 0.7% [3]. Recently, a similar frequency (0.4%) was estimated in pigs, in a sample of 3500 young purebred boars controlled before reproduction in artificial insemination centres [12]. In livestock species, constitutional chromosomal abnormalities affect the reproductive performance of animals which carry the rearrangements, or the reproductive performance of their mates.…”

Section: Introductionmentioning

confidence: 99%

Estimation of the proportion of genetically unbalanced spermatozoa in the semen of boars carrying chromosomal rearrangements using FISH on sperm nuclei

2004

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-Many chromosomal rearrangements are detected each year in France on young boars candidates for reproduction. The possible use of these animals requires a good knowledge of the potential effect of the rearrangements on the prolificacy of their mates. This effect can be estimated by an accurate determination of the rate of unbalanced spermatozoa in the semen of boars which carry the rearrangements. Indeed, these spermatozoa exhibiting normal fertilizing ability are responsible for an early embryonic mortality, and then, for a decrease of the litter sizes. The "spermFISH" technique, i.e. fluorescent in situ hybridization on decondensed sperm heads, has been used on several occasions in Man, in this perspective. In livestock species, this method was formerly used mainly for semen sexing purposes. We used it, for the first time, to estimate the rates of imbalance in the semen of four boars carrying chromosomal rearrangements: two reciprocal translocations, rcp(3;15)(q27;q13) and rcp(12;14)(q13;q21), as well as two independent cases of trisomy 18 mosaicism. The rates of unbalanced gametes were relatively high for the two reciprocal translocations (47.83% and 24.33%, respectively). These values differed from the apparent effects of the rearrangements estimated using a limited number of litters: a decrease in prolificacy of 23% (estimation obtained using the results of 6 litters) and 39% (57 litters), respectively for the 3/15 and 12/14 translocations. The imbalance rates were much lower for the trisomy mosaics (0.58% and 1.13%), suggesting a very moderate effect of this special kind of chromosomal rearrangement.

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“…This approach, very classic in humans, is still little used in animal cytogenetics. To our knowledge, only 17 papers have been published so far for farm species: five in the pig [10,23,28,30,31], eight in cattle [12,[17][18][19][20][21][22]29], three in the horse [1,26,44], and one in poultry [32]. One of the reasons is, up to a recent period, the limited availability of probes.…”

Section: Introductionmentioning

confidence: 99%

“…The chromosomal control programmes carried out in livestock populations, especially in France [7], allow the detection of numerous chromosomal abnormalities [6,[8][9][10]31]. All chromosomal abnormalities have been primarily identified using classical chromosome staining techniques (G-, and/or R-banding).…”

Section: Introductionmentioning

confidence: 99%

Chromosomal rearrangements in cattle and pigs revealed by chromosome microdissection and chromosome painting

2003

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-A pericentric inversion of chromosome 4 in a boar, as well as a case of (2q−;5p+) translocation mosaicism in a bull were analysed by chromosome painting using probes generated by conventional microdissection. For the porcine inversion, probes specific for p arms and q arms were produced and hybridised simultaneously on metaphases of a heterozygote carrier. In the case of the bovine translocation, two whole chromosome probes (chromosome 5, and derived chromosome 5) were elaborated and hybridised independently on chromosomal preparations of the bull who was a carrier of the mosaic translocation. The impossibility of differentiating chromosomes 2 and der(2) from other chromosomes of the metaphases did not allow the production of painting probes for these chromosomes. For all experiments, the quality of painting was comparable to that usually observed with probes obtained from flow-sorted chromosomes. The results obtained allowed confirmation of the interpretations proposed with G-banding karyotype analyses. In the bovine case, however, the reciprocity of the translocation could not be proven. The results presented in this paper show the usefulness of the microdissection technique for characterising chromosomal rearrangements in species for which commercial probes are not available. They also confirmed that the main limiting factor of the technique is the quality of the chromosomal preparations, which does not allow the identification of target chromosomes or chromosome fragments in all cases.

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Cytogenetic and molecular characterization of�eight new reciprocal translocations in the pig species. Estimation of their incidence in French populations

Cited by 11 publications

References 12 publications

Chromosomal control of pig populations in France: 2002–2006 survey

Chromosomal control of pig populations in France: 2002–2006 survey

Estimation of the proportion of genetically unbalanced spermatozoa in the semen of boars carrying chromosomal rearrangements using FISH on sperm nuclei

Chromosomal rearrangements in cattle and pigs revealed by chromosome microdissection and chromosome painting

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