A New and Unusual Reciprocal Translocation in Cattle: rcp(11;25)(q11;q14–21)

Genualdo

Perucatti

et al. 2015

Cytogenet Genome Res

A newborn calf of the Agerolese cattle breed underwent clinical cytogenetic investigation because of hyperflexion of the forelimbs, red eyes and the inability to stand. Anamnesis revealed that the mother, phenotypically normal, carried a chromosomal aberration. The newborn died after 2 weeks, and no remarkable alterations were found by the veterinarian on postmortem examination. The mother was a carrier of a reciprocal balanced translocation rcp(11;25)(q11,q14∼21) detected after a cytogenetic investigation in 2011; however, the analysis of the newborn revealed a different chromosomal aberration with partial trisomy of chromosome 25 and partial monosomy of chromosome 11. In fact, the results showed both chromosomes 25, one chromosome 11 and only one long derivative chromosome (der11). FISH analysis, performed using BAC clones, confirmed the chromosomes and their regions involved. Finally, both the localization of the breakpoints on band q11 (centromere) of chromosome 11 and band q14-21 of chromosome 25, and the complete loss of the der25 identified the aberration as an unbalanced translocation 60,XX,der(11)t(11;25)(q11;q14∼21). A comparison with human chromosomes was also performed to search for similarities and possible genes involved in order to study their effects, thus extending the knowledge of these aberrations by case reports.

Section: Discussionsupporting

confidence: 59%

“…1 A). Anamnesis revealed that the mother, phenotypically normal, was a carrier of a t(11; 25)(q11,q14 ∼ 21) [Perucatti et al, 2011].…”

Section: Animalmentioning

confidence: 99%

Fatal Outcome in a Newborn Calf Associated with Partial Trisomy 25q and Partial Monosomy 11q, 60,XX,der(11)t(11;25)(q11;q14∼21)

Genualdo

Perucatti

et al. 2015

Cytogenet Genome Res

“…A rare example has been found in a female calf with partial trisomy 11 and partial monosomy 25, which was unable to stand up and died after a few weeks (Table 2) [39]. The mother of this calf was a carrier of rcp(11;25) (Table 7) [41]. These two latter cases demonstrate that rcp cause reduced fertility by generating unbalanced embryos that die in early embryonic life or a few days after birth.…”

Section: Reciprocal Translocationsmentioning

confidence: 96%

“…A particular case has been reported in a calf of the Agerolese breed (southern Italy). This animal, unable to stand up and which died a few weeks after birth, was found to be affected by partial trisomy 25 and partial monosomy 11 [39] (Table 2) due to an unbalanced meiosis of the mother cow, which had been affected by a balanced rcp (11;25) and reduced fertility [41]. Two cases of trisomy involving BTA20 and BTA29 have been found using only genomic analyses [30,40].…”

Section: Autosomesmentioning

confidence: 98%

Chromosome Abnormalities and Fertility in Domestic Bovids: A Review

Parma

2021

Animals

After discovering the Robertsonian translocation rob(1;29) in Swedish red cattle and demonstrating its harmful effect on fertility, the cytogenetics applied to domestic animals have been widely expanded in many laboratories in order to find relationships between chromosome abnormalities and their phenotypic effects on animal production. Numerical abnormalities involving autosomes have been rarely reported, as they present abnormal animal phenotypes quickly eliminated by breeders. In contrast, numerical sex chromosome abnormalities and structural chromosome anomalies have been more frequently detected in domestic bovids because they are often not phenotypically visible to breeders. For this reason, these chromosome abnormalities, without a cytogenetic control, escape selection, with subsequent harmful effects on fertility, especially in female carriers. Chromosome abnormalities can also be easily spread through the offspring, especially when using artificial insemination. The advent of chromosome banding and FISH-mapping techniques with specific molecular markers (or chromosome-painting probes) has led to the development of powerful tools for cytogeneticists in their daily work. With these tools, they can identify the chromosomes involved in abnormalities, even when the banding pattern resolution is low (as has been the case in many published papers, especially in the past). Indeed, clinical cytogenetics remains an essential step in the genetic improvement of livestock.

“…On the other hand, heterozygotes for several different reciprocal translocations have been detected in Bos taurus (Iannuzzi et al ., ; De Lorenzi et al ., , , ; Molteni et al ., ; Switonski et al ., ; Perucatti et al ., ) and in the water buffalo, Bubalus bubalis (Di Meo et al ., ), but these appear to be rare and have important detrimental effects on the carrier's fertility, and the viability of progeny (Switonski & Stranzinger, ). Some very rare autosomal translocations were described in horses that presented normal phenotypes but were apparently subfertile (Lear & Bailey, ).…”

Section: Chromosomal Rearrangements Associated With Polymorphisms In mentioning

confidence: 99%

Chromosomal polymorphism in mammals: an evolutionary perspective

2015

Although chromosome rearrangements (CRs) are central to studies of genome evolution, our understanding of the evolutionary consequences of the early stages of karyotypic differentiation (i.e. polymorphism), especially the non-meiotic impacts, is surprisingly limited. We review the available data on chromosomal polymorphisms in mammals so as to identify taxa that hold promise for developing a more comprehensive understanding of chromosomal change. In doing so, we address several key questions: (i) to what extent are mammalian karyotypes polymorphic, and what types of rearrangements are principally involved? (ii) Are some mammalian lineages more prone to chromosomal polymorphism than others? More specifically, do (karyotypically) polymorphic mammalian species belong to lineages that are also characterized by past, extensive karyotype repatterning? (iii) How long can chromosomal polymorphisms persist in mammals? We discuss the evolutionary implications of these questions and propose several research avenues that may shed light on the role of chromosome change in the diversification of mammalian populations and species.