Mosaicism for translocation heterozygosity in a malformed pig

Hansen-Melander, Eva; Melander, Yngve

doi:10.1111/j.1601-5223.1970.tb02291.x

Cited by 13 publications

(3 citation statements)

References 8 publications

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“…According to our observations, mosaicism for balanced reciprocal chromosome translocation are underreported in the domestic pig. To date only 4 mosaic reciprocal chromosome translocations have been documented in the domestic pig 2,3 , in contrast to the over 200 total constitutional chromosomal rearrangements reported in the literature 1 . In this study we report a total of 39 mosaic chromosome translocations identified in the domestic pig through which we attempt to estimate the prevalence, possible tissue distribution, and interrogate the possible adverse biological effects of somatic chromosome mosaicism in this species.…”

Section: Discussionmentioning

confidence: 92%

“…Thus far, only four documented mosaic abnormalities in the domestic pig have been identified through investigation of specific boars. The first reported mosaic translocation for the domestic pig was a mos t (1;11), identified in a malformed stillborn piglet 2 . The other three mosaic translocations, a mos t(7;9), a mos t (7;18), and a mos t (9;18), were proposed to occur recurrently in 13 otherwise healthy pigs as a result of illegitimate recombination between the four genes that make up the porcine T-cell receptor (TCR) 3 .…”

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confidence: 99%

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Routine Karyotyping Reveals Frequent Mosaic Reciprocal Chromosome Translocations in Swine: Prevalence, Pedigree, and Litter Size

Rezaei

Donaldson

Villagómez

et al. 2020

Sci Rep

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In the routine commercial karyotype analysis on 5,481 boars, we identified 32 carriers of mosaic reciprocal translocations, half of which were carrying a specific recurrent translocation, mos t(7;9). An additional 7 mosaic translocations were identified through lymphocyte karyotype analysis from parents and relatives of mosaic carriers (n = 45), a control group of non-carrier boars (n = 73), and a mitogen assessment study (n = 20), bringing the total number of mosaic carriers to 39 cases. Mosaic translocations in all carriers were recognized to be confined to hematopoietic cells as no translocations were identified in fibroblasts cells of the carriers. In addition, negative impact on reproduction was not observed as the fertility of the carriers and their relatives were comparable to breed averages, and cryptic mosaicism was not detected in the family tree. This paper presents the first study of mosaic reciprocal translocations identified in swine through routine screening practices on reproductively unproven breeding boars while presenting evidence that these type of chromosome abnormalities are not associated with any affected phenotype on the carrier animals. In addition, the detection of recurrent mosaic translocations in this study may emphasize the non-random nature of mosaic rearrangements in swine and the potential role of genomic elements in their formation. Chromosome translocations in a mosaic state are rarely reported in domestic animal species. To date, over 200 constitutional chromosome rearrangements have been reported in the domestic pig 1 , while only four mosaic abnormalities are previously documented for this species 2,3. The discrepancy in reports is mainly due to the fact that constitutional chromosome rearrangements are present in each individual cell, including germ cells, thus adversely affecting reproduction in otherwise phenotypically normal carriers 4-6. Therefore, the primary focus of cytogenetic screening programs in domestic animal species is the identification of constitutional chromosome abnormalities, and the removal of carrier animals from the breeding population 7. As such, cytogenetic screening programs are continually being performed on the domestic pig, which have allowed for accurate estimates of the prevalence and rate of formation for constitutional rearrangements in this species 6-8. Between 0.5-1.5% of reproductively unproven young boars are estimated to be carriers of constitutional chromosome rearrangements, with reciprocal chromosome translocations being the most prevalent chromosome structural abnormality reported so far 1,6-9. Typically, routine karyotype analysis, which differentiates normal from abnormal chromosome constitutions, is based on the careful analysis of at least two optimal Giemsa banded karyotypes (GTG-banded), predicated on constitutional chromosome abnormalities being present in any single somatic cells 10,11. As such, chromosome

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Section: Discussionmentioning

confidence: 92%

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confidence: 99%

Routine Karyotyping Reveals Frequent Mosaic Reciprocal Chromosome Translocations in Swine: Prevalence, Pedigree, and Litter Size

Rezaei

Donaldson

Villagómez

et al. 2020

Sci Rep

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“…Preparations were also made from bone marrow and from testes. Orcein squash preparations were made according to HANSEN-MELANDER and MELANDER (1969) and SOMLEV et al (1970). The procedures used for Giemsa-band staining are described by HANSEN-MELANDER et al (1974).…”

Section: Methodsmentioning

confidence: 99%

The karyotype of the pig

Hansen-Melander

Melander

2009

Hereditas

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Translocation heterozygosity in a malformed piglet and its normal littermates

Miyake¹,

Kawata²,

Ishikawa³

et al. 1977

Teratology

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A translocation with centric fusion between the Nos. 13 and 17 acrocentric chromosomes was described in a malformed female piglet and three phenotypically normal littermates by the G-banding staining technique. Since the translocation was heterozygous, the chromosome number was 37. The differences between the translocation of the present cases and those previously reported in the domestic swine species, as well as in some wild pigs, are mentioned.

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Mosaicism for translocation heterozygosity in a malformed pig

Cited by 13 publications

References 8 publications

Routine Karyotyping Reveals Frequent Mosaic Reciprocal Chromosome Translocations in Swine: Prevalence, Pedigree, and Litter Size

Routine Karyotyping Reveals Frequent Mosaic Reciprocal Chromosome Translocations in Swine: Prevalence, Pedigree, and Litter Size

The karyotype of the pig

Translocation heterozygosity in a malformed piglet and its normal littermates

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