Illegitimate recombination between T cell receptor genes in humans and pigs (Sus scrofa domestica)

Musilová, Petra; Drbalová, Jitka; Kubı́čková, Svatava; Černohorská, Halina; Štěpánová, Hana; Rubeš, Jiřı́

doi:10.1007/s10577-014-9434-8

Cited by 4 publications

(6 citation statements)

References 48 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Each of the non-recurrent rearrangements were novel, and not previously reported by other studies, however the recurrent translocations identified in this study, mos t(7;9), mos t(7;18), and mos t(9;18) were previously investigated in a study by Musilova et al [2014] in which the role of recurrent mosaic translocations in ageing as well as predisposition to cancer was investigated. Three breakpoint regions, (7q15.3-q21, 18q11.3-q12 and 9q21-22) where T-cell receptor (TCR) genes reside in the domestic pig, were investigated and the frequency of trans rearrangement were analyzed.…”

Section: Discussionmentioning

confidence: 51%

“…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%

“…Recurrent mosaic translocations in this study comprised half of all the mosaic translocations identified, all of which were presumably in or nearby TCR genes 3 . Thus, further molecular and genome analysis should be performed to consolidate the genomic sequences of breakpoint regions in order to discover the elements involved in forming the illegitimate joining of chromosome segments and identify the patterns of predisposition for ectopic genome exchanges.…”

Section: Discussionmentioning

confidence: 93%

“…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 . Beyond the description of these four mosaic chromosome rearrangements little is known about the general prevalence and characteristics of mosaic chromosome rearrangements in the domestic pig karyotype.…”

mentioning

confidence: 99%

See 3 more Smart Citations

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

Rezaei

Donaldson

Villagómez

et al. 2020

Sci Rep

View full text Add to dashboard Cite

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

show abstract

Section: Discussionmentioning

confidence: 51%

Section: Discussionmentioning

confidence: 92%

Section: Discussionmentioning

confidence: 93%

mentioning

confidence: 99%

See 2 more Smart Citations

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

Rezaei

Donaldson

Villagómez

et al. 2020

Sci Rep

View full text Add to dashboard Cite

show abstract

“…Indeed, carrier pigs experimentally bred were shown to have offspring with a normal karyotype composition [ 69 ]. In addition, mosaic rearrangements have a tendency for recurrence, with three mosaic rearrangements, t(7;9); t(7;18), and t(9;18), being shown to occur recurrently in swine herds [ 69 , 70 ]. Mosaic rearrangements share the same tendency for constitutional rearrangements to experience reciprocal translocation at the highest rate, with no current cases of Robertsonian translocation or inversion being observed in somatic cells.…”

Section: Mosaicismmentioning

confidence: 99%

Classical, Molecular, and Genomic Cytogenetics of the Pig, a Clinical Perspective

Donaldson

Villagómez

King

2021

Animals

View full text Add to dashboard Cite

The chromosomes of the domestic pig (Sus scrofa domesticus) are known to be prone to reciprocal chromosome translocations and other balanced chromosome rearrangements with concomitant fertility impairment of carriers. In response to the remarkable prevalence of chromosome rearrangements in swine herds, clinical cytogenetics laboratories have been established in several countries in order to screen young boars for chromosome rearrangements prior to service. At present, clinical cytogenetics laboratories typically apply classical cytogenetics techniques such as giemsa-trypsin (GTG)-banding to produce high-quality karyotypes and reveal large-scale chromosome ectopic exchanges. Further refinements to clinical cytogenetics practices have led to the implementation of molecular cytogenetics techniques such as fluorescent in-situ hybridization (FISH), allowing for rearrangements to be visualized and breakpoints refined using fluorescently labelled painting probes. The next-generation of clinical cytogenetics include the implementation of DNA microarrays, and next-generation sequencing (NGS) technologies such as DNA sequencing to better explore tentative genome architecture changes. The implementation of these cytogenomics techniques allow the genomes of rearrangement carriers to be deciphered at the highest resolution, allowing rearrangements to be detected; breakpoints to be delineated; and, most importantly, potential gene implications of those chromosome rearrangements to be interrogated. Clinical cytogenetics has become an integral tool in the livestock industry, identifying rearrangements and allowing breeders to make informed breeding decisions.

show abstract

Impact of Karyotype Organization on Interlocus Recombination between T Cell Receptor Genes in Equidae

Drbalová

Musilová

Kubı́čková

et al. 2014

Cytogenet Genome Res

Self Cite

View full text Add to dashboard Cite

The T cell receptor (TCR) genes (TRA, TRB, TRD and TRG) reside in 3 different chromosomal regions. During the maturation of T lymphocytes, the TCR genes are rearranged by site-specific recombination, a process that also predisposes T cells to aberrant rearrangements. Illegitimate recombination between the TCR genes occurs at a low level in healthy individuals, but this frequency may correlate with the risk of lymphoma. The aim of this work was to investigate interlocus recombination in equids. Illegitimate rearrangements were studied in peripheral blood lymphocytes by FISH with painting and BAC probes and by sequencing of PCR products, and the frequencies of recombination were assessed in horses and 4 other equids. The presence of several trans-rearrangement products between the TRA and TRG genes was verified by PCR in all investigated equids. Frequencies of trans-rearrangements in horses are higher than in humans, and colocalization of the TCR genes on the same chromosome increases the incidence of trans-rearrangements between them. The orientation of the TCR genes does not impact interlocus recombination itself but does affect the viability of cells carrying its products and consequently the number of trans-rearrangements observed in lymphocytes.

show abstract

Illegitimate recombination between T cell receptor genes in humans and pigs (Sus scrofa domestica)

Cited by 4 publications

References 48 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

Classical, Molecular, and Genomic Cytogenetics of the Pig, a Clinical Perspective

Impact of Karyotype Organization on Interlocus Recombination between T Cell Receptor Genes in Equidae

Contact Info

Product

Resources

About