Incidence of 1 29 translocation in Venezuelan Creole bulls

The Venezuelan Creole breed cattle is a Bos taurus well adapted to tropical conditions; however, it has demonstrated a low fertility rate. Recently, improvement in animal production by selection based on chromosomal analysis has allowed for the erradication of abnormalities involved in fertility problems, especially that of the 1 29 translocation. In the present work chromosomal analyses were carried out on 60 Creole bulls. Heparinized peripheral blood cells were cultured rendering metaphase spreads and subsequently stained by G- and C-banding techniques. The 1 29 translocation was observed in 13 of the 60 bulls. The occurrence of this translocation in Creole cattle is discussed.     

Incidence of 1/29 translocation in Venezuelan Creole pure and crossbreed cows used in reproductive programs

The Venezuelan Creole breed cow has shown great versatility in adapting to extreme tropical conditions, but unfortunately it has exhibited low fertility. In a previous study conducted at the Experimental Station Guárico in Calabozo, Venezuela, chromosomal analysis of 30 Creole bulls demonstrated the presence of Robertsonian translocation 1/29 (Rb 1/29) in 16.6% of the animals. Considering this finding, we sought to establish the incidence of Rb 1/29 in Creole cows. Thus, heparinized peripheral blood cells were cultured rendering metaphase spreads and were subsequently stained by Giemsa and G-banding techniques. The chromosomal diagnosis was performed in 2 groups of cows (21 pure Creole and 47 hybrids Creole x Brahman). The results confirmed the presence of Rb 1/29 in females as had already been demonstrated in bulls. In the first group of cows the incidence of Rb 1/29 was 4.8%; in the second it was 8.5%. The implication of this finding is discussed here.     

Incidence of 1/29 translocation in Bolivian Creole and Brahman Yacumeño cattle

In Bolivia, four different Creole cattle breeds can be found, as well as other European and Zebu breeds adapted to local environments. The relationship between the occurrence of the 1/29 translocation and subfertility is well known, and analysis of Y chromosome morphology is useful to determine a possible introgression with Bos indicus. The incidence of the 1/29 translocation was analyzed in four Bolivian Creole cattle breeds and the Brahman Yacume?o population, as well as on four farms with phenotypical Creole-type cattle. In 259 (164 dams and 95 sires) Bolivian Creole cattle, 10.42% of the individuals demonstrated the 1/29 translocation, with a variation from 0 to 28.20% between the breeds. In contrast, 43 (19 dams and 24 sires) Yacume?o Brahman and the Creole-type cattle did not show the centric fusion. The highly significant differences between Creole cattle breeds in relation to the incidence of 1/29 translocation could be a consequence of factors such as founder group, genetic drift, and selection. The low frequency observed in the Saavedre?io Creole dairy cattle might be explained by its breeding under a more intensive system, and selection according to milk yield and fertility traits. Finally, no relation between acrocentric Y chromosomes and 1/29 translocation was observed.     

Does the 1/29 Robertsonian translocation affect the fertility of Blonde d'Aquitaine breed bulls?

The effects of the 1 29 translocation upon male fertility were studied by analysis of the results of 1 350 385 first artificial inseminations with the semen of Blonde d'Aquitaine or Coopelso-93 bulls (n=220). A binomial logit model was designed, taking into account the translocation of sire, breed of sire, breed of dam, year, AI center, and all interactions between translocation, and breed of sire, and breed of dam. Male fertility was not affected by the 1 29 translocation, and the nonreturn rates at 60 to 90 days of Blonde d'Aquitaine females inseminated with the semen of carrier bulls (135 632 first AI) or noncarrier bulls (585 949 first AI) were 74.88% and 74.75%, respectively.     

Greater genetic variability in Argentine Creole than in Thoroughbred horses based on serum protein polymorphisms

Genetic polymorphism was analyzed for five blood proteins: albumin - Al, esterase - Es, alpha(1)B-glycoprotein - Xk, transferrin - Tf and hemoglobin - Hb in 200 Thoroughbred (TB) and 124 Argentine Creole (AC) horses. Of the five systems examined, Tf and Hb were not in Hardy-Weinberg equilibrium in either breed and Es was not in equilibrium in the Creole breed. Genetic variability, estimated as average heterozygosity, was higher in AC (H = 0.585 +/- 0.131) than in TB (H = 0.353 +/- 0.065). The genetic differentiation between these two populations (F(ST)) was 0.109. Thus, of the total genetic differences between breeds, the proportion of genetic variation attributable to breed differences was about 10%; the remaining 90% was due to individual variation within breeds. The high degree of genetic variability seen in Argentine Creole horses could be a consequence of natural selection. Selection of TB through the centuries has most likely modified the gene pool of the ancestral population, with a consequent reduction in variability at certain loci. Probably, different mechanisms exist for maintaining polymorphism at these loci in TB and in AC horses. Heterozygosity may have played a fundamental role in adaptation.     

Gene frequencies of DRB3.2 locus of Argentine Creole cattle

Gene and genotype frequencies of BoLA-DRB3 were studied in seven herds of Argentine Creole cattle. Twenty-one out of thirty previously identified alleles were detected in this breed. The F statistics showed high degree of variability among the studied subpopulations suggesting that subdivision and genetic drift, rather than inbreeding, have been the major factors acting on the observed interpopulation variability. The observed high degree of genetic variation in Argentine Creole cattle could be crucial for the long-term survival of this population. Maintenance of such polymorphism, as a genetic resource, could be an important issue that will demand attention in future breeding programmes in species under high selective pressures.     

Incidence and inheritance of the 1/29 and 14/20 Robertsonian translocations in Canadian beef cattle

Metaphase chromosomes were prepared from peripheral leukocyte cultures of 253 beef animals representing 21 breeds. A total of 10 Robertsonian translocations were identified. Nine were 1/29 fusions and one was a stable 14/20 fusion identified in several Simmentals. To our knowledge, the only other case of this translocation reported was also in the Simmental breed, suggesting that this fusion may be unique to the breed. A further 54 relatives of known 1/29 and 14/20 carriers were examined, revealing that both fusions were inherited by 50% of offspring of the heterozygous carrier. Heterozygous male 1/29 carriers left fewer calves than karyotypically normal bulls when used in natural service.     

Male-mediated introgression of Bos indicus genes into Argentine and Bolivian Creole cattle breeds

The geographic distribution and frequency of Bos taurus and Bos indicus Y chromosome haplotypes amongst Argentine and Bolivian Creole cattle breeds were studied, using cytogenetic and molecular genetic techniques. A complete correspondence between Y chromosome morphology and the haplotype of the Y-linked microsatellite marker INRA 124 was found in all males examined. The taurine and indicine haplotypes were detected in 85.7 and 14.3% of the males studied, respectively, although these frequencies varied amongst the different breeds examined. The geographic distribution of this polymorphism suggests a pattern of zebu introgression in South America. The highest frequencies of the Zebu Y-chromosome are found in Brazilian populations (43-90%), in the eastern part of the continent, while it is absent in the southernmost breeds from Uruguay and Argentina. Bolivian breeds, at the centre of the continent, exhibit intermediate values (17-41%). This east/west and north/south gradient of male Zebu introgression could be explained by historical events and environmental factors.     

Translocation of chromosome 1/29 and its various phenotypic manifestations in Ala-Tau breed cattle

117 heads of Ala-Tau breed cattle were studied cytogenetically. The 1/29 translocation was present in 13 animals of unusual for this breed light-grey colour. Chimerism 2n = 59/2n = 60 was found in twins. Dominant mutation transforming dark brown colour to the light-grey seemed to be present in the 1/29 chromosome locus, near the centromere region.     

Monosomy and trisomy in bovine embryos sired by bulls heterozygous for the 1 29 Robertsonian translocation chromosome

Mature cows (n = 37) were superovulated and inseminated with semen from either bulls heterozygous for the 1 29 Robertsonian translocation or bulls with a normal karyotype. A total of 163 embryos was recovered, and preparations suitable for cytogenetic analysis were obtained from 67 (41.1%) of these. The karyotype was unbalanced in three (4.5%) of the embryos sired by semen from a bull carrying the translocation, whereas no karyotypic imbalance was recognized in the control group of embryos. Two of the unbalanced embryos were monosomic, while the third embryo was trisomic.     

Use of semen from a bull heterozygous for the 1 29 translocation in an IVF program

In cattle, a translocation of the Robertsonian type between the largest and smallest chromosome leads to a reduction in fertility. This is substantiated by reduced nonreturn rates in daughter groups of bulls carrying the 1 29 translocation and in the heterozygous bulls themselves. This reduction in fertility is thought to be due to the early death of embryos with unbalanced karyotypes. The influence of semen from a bull known to be heterozygous for the 1 29 translocation on the outcome of a bovine IVF program was investigated. There was a significant difference (P<0.005) in terms of cleavage rate (59.8 vs 71.1%) and blastocyst rate (12.0 vs 20.0%) between the carrier and control bull, respectively. There was no difference in blastocyst quality as measured by cell number. The results observed in vitro are consistent with the field fertility records of the 2 bulls in terms of nonreturn rates (59.2 vs 70.6%, for the carrier and control bull, respectively).     

Effect of humid tropical climate on the thermoregulatory response of Limousin × Creole and Creole growing bulls in Guadeloupe (French West Indies)

In Guadeloupe (French West Indies), eight Limousin × Creole (local) growing bulls and eight Creole bulls were either exposed to full sunshine or shaded; each climatic treatment involved half of the animals of each breed. All the bulls were fed ad libitum on a concentrate diet. Twice a week, around 12 a.m., respiratory rhythm, rectal temperature, heart rate as well as microclimatic parameters (mainly black globe temperature) were measured and a blood sample taken for packed cell volume, prolactin, and triiodothyronin (T3) plasma concentration determination. Respiratory rhythm and, to a lesser extent, rectal temperature were found to increase more for the Limousin × Creole crossbred than for the Creole bull on exposure to the sun and rise in globe temperature. However, the heart rate and blood parameters in the crossbred did not seem seriously affected by heat. This seems to indicate that the crossbred animals, though they required more positive thermal regulation than the local cattle, are not heat-stressed in the West Indian conditions. These findings are also supported by the lack of effect of exposure to the sun on the growth and carcass characteristics of such animals (reported elsewhere).     

The nature of the 1;29 translocation in cattle as revealed by synaptonemal complex analysis using electron microscopy

Synaptonemal complex analyses were carried out by electron microscopy on surface-spread spermatocytes of one normal bull and two bulls that were heterozygous for the so-called 1;29 translocation. The autosomal bivalents of the normal karyotype, which could be arranged by size in a series, demonstrated kinetochores at the terminally located attachment plaques. One autosomal bivalent was clearly larger than the rest and apparently consisted of the long arm of the 1;29 translocation. The 1;29 translocation was the longest autosome in the set and had a kinetochore in a subtelocentric position. Some of the autosome pairs had nucleolus organizer regions in telomeric regions. The X and Y chromosomes, which were not paired at zygotene, demonstrated association in a very short segment at early pachytene; in no cells could a synaptonemal complex be seen between the X and Y. Very often the sex chromosomes were dissociated. At zygotene, a few, usually large, bivalents were unpaired proximally. This always also involved the proximal parts of the arms of the 1;29 translocation and their normal homologs. At early pachytene, the 1;29 trivalent, although to a less extensive degree, was also unpaired in the pericentric region. Configurations in which one chromosome, either 1 or 29, was completely paired with its corresponding arm in the 1;29 translocation chromosome also occurred. When unpaired proximally, the size of chromosome 1 agreed fairly well with the size of its corresponding arm, but the size of chromosome 29 was considerably larger than the corresponding arm of the 1;29 translocation chromosome. During late zygotene and early pachytene, the percent difference between chromosome 29 and its corresponding arm decreased, and at mid and late pachytene there had been a complete synaptic adjustment. The size difference and pairing behavior indicated that a deletion of the kinetochore and the most proximal segment of chromosome 29 had preceded the fusion with chromosome 1 into the 1;29 translocation. The unique structural appearance of the 1;29 translocation chromosome compared to that of other centric fusion translocations in cattle lends support to the theory of a monophyletic origin of the 1;29 translocation. The importance of the pairing behavior observed in governing recombination and chromosome disjunction is briefly discussed.     

Embryos produced in vitro from bulls carrying 16;20 and 1;29 Robertsonian translocations: detection of translocations in embryos by fluorescence in situ hybridization

Robertsonian translocation rob(16;20) in the heterozygous state was discovered in a subfertile bull of the Czech Siemmental breed. A chromosomal analysis of its family has shown that this dicentric fusion is formed de novo. The present experiments were designed to detect rob(16;20) and determine its incidence for in vitro produced embryos, using fluorescence in situ hybridization (FISH) and rob(1;29) as a detection control. To characterize semen of both bulls with the rob translocations, their sperm was examined for DNA integrity by the sperm chromatin structure assay (SCSA). For in vitro fertilization of oocytes, spermatozoa from a rob(16;20) bull carrier (Czech Siemmental breed) and those from a rob(1;29) bull carrier (Charolais breed) were used. Embryos at the 6- to 8-cell stage were cultured in a vinblastine-supplemented medium for 17 h, and embryos at the blastocyst stage were cultured in a colcemide-supplemented medium for 4 h. The embryos were fixed in methanol and acetic acid with Tween-20. Painting probes for chromosomes 16 (Spectrum Green) and 20 (Spectrum Orange) and chromosomes 1 (Spectrum Orange) and 29 (Spectrum Green) were simultaneously hybridized. In the embryos derived from the rob(16;20) bull, the presence of this translocation was not detected. On the other hand, 52.5% of the embryos derived from the rob(1;29) bull were translocation carriers. There was no significant difference in the frequency of this translocation between early and advanced embryos.     

Additional evidence of the formation of unbalanced embryos in cattle with the 7/21 Robertsonian translocation

To confirm the effect of the 7 21 Robertsonian translocation on fertility in Japanese Black Cattle, cytogenetic studies were performed on embryos collected from the following 3 mating groups: normal bull cross normal cow, translocation carrier bull cross normal cow, and normal bull cross translocation carrier cow. All the analyzable embryos showed normal chromosome complements when the parents had a normal karyotype. In the group sired by the 7 21 translocation heterozygous bulls, a total of 56 embryos had metaphases suitable for chromosome analyses. Out of these embryos, 28 had normal chromosome complements and 25 were embryos with a balanced karyotype. However, 3 (5.4%) were monosomic and trisomic embryos, presumably resulting from the fertilization of normal ova by aneuploid spermatozoa. Unbalanced embryos were also observed in the chromosome analyses of embryos derived from the 7 21 translocation heterozygous cows. These results suggest that the 7 21 translocation in the heterozygous state may be associated with a slight reduction in reproductive efficiency.     

Sperm nuclei analysis of 1/29 Robertsonian translocation carrier bulls using fluorescence in situ hybridization

In 1964, Gustavsson and Rockborn first described the 1/29 Robertsonian translocation in cattle. Since then, several studies have demonstrated the negative effect of this particular chromosomal rearrangement on the fertility of carrier animals. During the last decade, meiotic segregation patterns have been studied on human males carrying balanced translocations using FISH on decondensed sperm nuclei. In this work, we have applied the 'Sperm-FISH' technique to determine the chromosomal content of spermatozoa from two bulls heterozygous for the 1/29 translocation and one normal bull (control). 5425 and 2702 sperm nuclei were scored, respectively, for the two heterozygous bulls, using whole chromosome painting probes of chromosomes 1 and 29. Very similar proportions of normal (or balanced) spermatozoa resulting from alternate segregation were observed (97.42% and 96.78%). For both heterozygous bulls, the proportions of nullisomic and disomic spermatozoa did not follow the theoretical 1:1 ratio. Indeed, proportions of nullisomic spermatozoa were higher than those of disomic sperma tozoa (1.40% vs 0.09% (bull 1) and 1.29% vs 0.15% (bull 2) for BTA1, and 0.65% vs 0.40% (bull 1) and 1.11% vs 0.63% (bull 2) for BTA29). The average frequencies of disomic and diploid spermatozoa in the normal bull were 0.11% and 0.05%, respectively.     

The frequency of chromosome abnormalities in farm animals and their economic consequences

Examinations during the last two decades of the chromosome complements of various species of domestic animals have revealed the existence of a considerable number of abnormalities, including inherited rearrangements: approximately 20 in cattle, 15 in pigs (predominantly reciprocal translocations), 3 in sheep, 2 in horses (predominantly monosomy X), and 1 in goats. (The accumulation of data on the frequency of such abnormalities and evaluation of their effects on reproductive performances of carriers of inherited rearrangement depends on a number of factors including the use of artificial insemination, number or progeny per sire or dam, and differences in generation intervals of the species concerned). The economic value of the cytogenetic findings depends on the degree of exchange of information between the breeders and the cytogenetics laboratories. An example of a successful collaboration is a Swedish study of a centric fusion translocation in Swedish Red and White cattle, one that affects chromosomes 1 and 29. There, the fertility-reducing effects of the translocation led to a loss of approximately $250,000. Recognition of the significance of the translocation prompted a search for carrier bulls and their elimination from the artificial insemination units. In swine, in which artificial insemination is used much less than in cattle, data on the frequency of reciprocal translocations in general must be obtained from the farms themselves. The main effect of an inherited chromosome rearrangement is a reduction in the number of offspring, perhaps to 50%, i.e., five piglets per litter.(ABSTRACT TRUNCATED AT 250 WORDS)     

A new reciprocal translocation in a subfertile bull

Three bulls of the Montbéliarde breed that exhibited fertility rates lower than 30% following more than 400 artificial inseminations were examined. Semen quality (sperm motility and morphology) from these bulls was normal. Fertilizing ability estimated from in vitro embryo production results was studied for two of them. In vitro production rate was very low for one bull (A) and normal for the other (B). Cytogenetic analyses were carried out on the three bulls using chromosome banding techniques. These analyses revealed a reciprocal translocation (12;17)(q22;q14) in bull B. Based on family analyses, the hypothesis of a de novo origin of this rearrangement is proposed.     

Robertsonian translocation in Sykia Chalkidiki cattle

This is the first report on the Robertsonian 1/29 translocation in the Sykia Chalkidiki cattle breed. The characteristics of this endangered breed are described, and the possibilities of rescuing and exploiting the breed in a zootechnical sense are examined.     

A new balanced autosomal reciprocal translocation in cattle revealed by banding techniques and human-painting probes

Three hundred and twenty-two (264 males and 58 females), randomly sampled Grey Alpine cattle individuals from Northeastern Italy, were investigated cytogenetically by both conventional chromosome staining and R-banding. Two hundred and eighty-one (87%) individuals had a normal karyotype and 41 (13%) carried chromosomal aberrations such as (a) rob(1;29) in two individuals, (b) rob(26;29) in 36 individuals, (c) XX/XY-chimerism in two individuals, and (d) an abnormally long chromosome in one individual. All these aberrations except (d) have been described before. GBG-, RBG-, CBA-banding and sequential GBG/CBA- and RBG/CBA-banding techniques revealed that the abnormally long chromosome was the result of a reciprocal translocation between chromosomes 1 (q21-->qter) and 5 (q11-->q33), as confirmed also by chromosome painting with human chromosome 3 and 12 probes. The dam of the carrier bull carried the same translocation, while the grandam showed a normal karyotype. Since the sire of the dam was not available for study, no conclusion about the origin of the chromosome translocation could be drawn. The carrier bull was eliminated because of poor fertility. The dam had three other calves, which all were chromosomally normal. On average the dam had to be served 2.5 times (breed average was 1.2) to be in calf.