Low Fertility in Daughters of Bulls with 1/29 Translocation

Non-return rates at different stages after insemination were compared in daughters (n = 21,212) of five translocation heterozygous sires with all cows and heifers (n = 610,714) represented in the Norwegian Red Cattle (NRF) breeding statistics during the period October 1970 to September 1972. The daughters of the carrier bulls showed statistically significant lower non-return rates for 0–30, 30–60, 60–90, 90–120, 120–150, 150–180 and 180–270 days as compared with the control animals. The decline in non-return percentage for the daughters of translocation sires was greater than in the control animals during the period from 0–30 to 60–90 days indicating higher losses of fetuses during the early period after insemination. Daughter groups of carrier bulls consisting of adult cows only showed higher non-return rates than groups comprising both cows and heifers.     

Polyamine levels in polyribosomes from the rat liver in Shvets leukemia

The content of spermidine in the liver polyribosomes of rats with the subcutaneously transplanted Svets leucosis is found to increase that evidences for qualitative changes in ribosomes of the liver of tumour-bearing animals.     

Cytogenetic study of spontaneous lympholeukemia in AKR mice in the process of its transplantation to an isogeneic line of animals]

Spontaneous leucosis was cytogenetically studied in subsequent generations (from 1 to 150) of AKR mice. By means of the differential staining technique of chromosomes, large variations in chromosome numbers were found in the karyotypes of leucotic cells of different generations, and the formation of cell clones containing different marker chromosomes as well as the dominance of a hyperdiploid clone with 41-42 chromosomes was revealed. Chromosome analysis of such hyperdiploid cells of the 150th generation has indicated that the supernumerary chromosomes (in 88.0% of cases examined) belong to the smallest chromosomes of the mouse karyogramm (to the 18-19th chromosome pairs or to chromosomes smaller than those of 19th pair). Similar trisomy was also observed in hypodiploid and pseudodiploid leucosis cells. It is suggested that the cell clone with trisomy for the smallest chromosomes is specific to the spontaneous lympholeucosis in AKR mice as well as to the leucosis transplanted to isogenic mice for a number of subsequent generations. Increased rate of hyperdiploid cells was associated with a generalization of leucosis. It was concluded that the development rate and the severity of transplanted lympholeucosis in AKR mice was determined by the domination of the cell clone with trisomy for the 18-19th chromosome pairs in the population of leucotic cells.     

The genetics of XX gonadal dysgenesis.

In a nationwide population-based study of women born between 1950 and 1976, 75 patients with XX gonadal dysgenesis (XXGD) were identified in Finland. Patients were ascertained through hospital records and the registers of chromosome laboratories. In one family 4 daughters were affected; in six families 2 daughters were affected; and 57 cases were isolated. In one additional family the two affected females were in successive generations. Population records were utilized to trace ancestors of patients back to the beginning of the 19th century, in most cases. Consanguinity was detected in 8 (12%) of 66 families. When females only are considered, the segregation analyses yield a proportion of .23 affected. The relatively large number of affected individuals identified (incidence 1 in 8,300 live-born girls) implies a high gene frequency in the Finnish population. The geographic distribution was highly uneven, with most families originating in the sparsely populated north-central part of Finland. These findings support the existence of an autosomal recessive XXGD gene (locus designation "ODG1") that is highly enriched in Finland. The multiplex families already identified will make it possible to map the ODG1 gene by a random search for linkage by using polymorphic markers. Linkage-disequilibrium analysis in the sporadic patients will then be used to test for genetic homogeneity versus heterogeneity.     

The genetics of cattle leukemia. I. Transmission, age at onset, influence of the size of the population, purity of the breed, and milk production on the development of leukemia]

The age of leucosis disease of cattle was found to be 6,5 years on the basis of the materials collected on seven State farms. The probability of the disease in young animals was found to be low, and it increased in adult cows. The size of population and the percentage of purebred in herd did not influence on the frequency of the disease. Highly productive animals were mostly exposed to the disease, while healthy and diseased animals exerted no differences in the fat content of milk.     

Ascertainment and anticipation in family studies

Many human diseases show anticipation; that is, disease occurs earlier (or with greater severity) in successive generations. In a computer simulation, we assessed the degree of anticipation that one would expect to see in two-generation breast cancer families. Under reasonable assumed distributions for age at cancer onset, number of children, and mortality, we find a consistent earlier mean age at diagnosis in daughters than in mothers, but the same mean age at diagnosis in affected aunts and nieces. We compare these results with published pedigree data for familial breast cancer that show substantial anticipation in affected daughters compared to their mothers. We find that at least some anticipation is expected in human disease families even when the disease is stable and families are ascertained without obvious sampling bias. We further demonstrate that such anticipation is reduced when comparing affected children to the parents' affected siblings.     

A comparative evaluation of the glycogen content in the peripheral blood of normal cattle and in chronic lymphoid leukemia

Peripheral blood lymphocytes in cows of four groups (healthy, exposed to leucosis, those affected by leucosis at early or at developed stages) were tested for their glycogen contents by the two following methods: the semiquantitative PAS technique (Shabadash, 1947) and the quantitative cytofluorimetric variant of PAS reaction in the M. V. Kudriavtseva modification (1970). The results show no difference between the 1st and 2nd groups as concerns the number of leucocytes and the relation of the number of glycogen-positive cells to the share of lymphocytes in the peripheral blood. In the 3rd and 4th groups, the increase in glycogen in individual cells paralleled with the increase in the number of PAS-positive lymphocytes, according to the Shabadash method. On comparing the results of the study of glycogen contents in lymphocytes of healthy and leucosis suffering cows, the two methods used proved to coincide very well. Hence, both the methods may be used for the aims of diagnosis of hemoblastosis in farm animals.     

Applications of sexed semen in cattle production

Sexed semen will contribute to increased profitability of dairy and beef cattle production in a variety of ways. It could be used to produce offspring of the desired sex from a particular mating to take advantage of differences in value of males and females for specific marketing purposes. Commercial dairy farmers, those who produce and market milk, could use sexed semen to produce replacement daughters from genetically superior cows and beef crossbred sons from the remainder of their cow population. To increase the rate of response to selection, seedstock dairy cattle breeders could produce bulls for progeny testing from a smaller number of elite dams by using sexed semen to ensure that all of them produced a son. Using sexed semen could then reduce the cost of progeny testing those bulls, because fewer matings would be necessary to produce any required number of daughters. Commercial beef cattle farmers, producing animals for eventual slaughter, could use sexed semen to capitalize on the higher value of male than female offspring for meat production. They could also use sexed semen to produce specialized, genetically superior replacement heifers from as small a proportion of the herd as possible. This would allow the remainder of the herd to produce male calves from bulls or breeds with superior genetic merit for growth, feed conversion efficiency, and carcass merit. Single-sex, bred-heifer systems, in which each female is sold for slaughter soon after weaning her replacement daughter, would be possible with the use of X-chromosome-sorted semen. Use of sexed semen would make terminal crossbreeding systems more efficient and sustainable in beef cattle. Fewer females would be required to produce specialized maternal crossbred daughters, and more could be devoted to producing highly efficient, terminal crossbred sons.     

The genetic polymorphism of the blood proteins in RID-positive reacting cows]

Cattle herd of Black-and-White, Red and Simmental breeds having positive or negative RID-reaction to leucosis was studied as to the polymorphism of serum blood proteins in three loci: Tf, Am and Cp. One system of polymorphic proteins has been determined as having a higher concentration of homozygotes (Tf) and another one as having a higher concentration of heterozygotes (Am) within one and the same herd among animals with the positive RID-reaction.     

Data transformation for rank reduction in multi-trait MACE model for international bull comparison

Since many countries use multiple lactation random regression test day models in national evaluations for milk production traits, a random regression multiple across-country evaluation (MACE) model permitting a variable number of correlated traits per country should be used in international dairy evaluations. In order to reduce the number of within country traits for international comparison, three different MACE models were implemented based on German daughter yield deviation data and compared to the random regression MACE. The multiple lactation MACE model analysed daughter yield deviations on a lactation basis reducing the rank from nine random regression coefficients to three lactations. The lactation breeding values were very accurate for old bulls, but not for the youngest bulls with daughters with short lactations. The other two models applied principal component analysis as the dimension reduction technique: one based on eigenvalues of a genetic correlation matrix and the other on eigenvalues of a combined lactation matrix. The first one showed that German data can be transformed from nine traits to five eigenfunctions without losing much accuracy in any of the estimated random regression coefficients. The second one allowed performing rank reductions to three eigenfunctions without having the problem of young bulls with daughters with short lactations.     

A single major-gene defect underlying cardiac conotruncal malformations interferes with myocardial growth during embryonic development: studies in the CTD line of keeshond dogs.

The common forms of isolated congenital heart disease are usually not inherited in a Mendelian pattern, and most are considered multifactorial threshold traits. A large subset consisting of a group of malformations of the ventricular outflow region, termed "conotruncal defects" (CTDs), include subarterial ventricular septal defects, tetralogy of Fallot, and persistent truncus arteriosus. Similar aggregations of CTDs have been reported in human families and in the keeshond breed of dog. The results of our early breeding experiments utilizing noninbred keeshonds were not consistent with any hypothesis of a fully penetrant monogenic inheritance. Here we report a recent series of genetic and embryologic studies conducted after more than 10 generations of selective inbred matings between affected-CTD-line dogs. The results are now consistent with a defect at a single autosomal locus, the Mendelian pattern of transmission having been obscured prior to selective inbreeding by genetic background. On the basis of morphometric embryologic studies, the mutant CTD allele causes conotruncal malformations in homozygous animals by interfering with myocardial growth in the conotruncus during the critical window when the conotruncal cushions fuse to form the conotruncal septum.     

A QTL for the degree of spotting in cattle shows synteny with the KIT locus on chromosome 6

The proportion of unpigmented coat on the trunk was determined from photographs of 38 German Simmental and 627 German Holstein bulls distributed over three generations. All 665 animals were members of 18 Holstein and 3 Simmental half-sib families. A Bayesian estimation of heritability yielded a posterior mean of 0.88 and a standard error of 0.08. A quantitative trait loci (QTL) scan over all chromosomes covered by 229 microsatellite marker loci (2926 cM) was performed by fitting a multiple marker regression model to 625 observations from the youngest generation in 18 families. On chromosome 6 a QTL for the proportion of white coat with large effects (experiment-wise error probability < .0001) was found and a less important one on chromosome 3 (chromosome-wise error probability < .009). Chromosome 6 is known to harbor the KIT locus (receptor tyrosinase kinase), which is associated with various depigmentation phenotypes in mice, humans, and pigs. Similarity of phenotypic KIT effects in other species and synteny with the reported QTL suggest that KIT is a serious candidate gene for the degree of spotting in cattle. The results are also discussed with respect to resistance to solar radiation, heat stress, and photosensitization.     

Effect of bull-sires on the reproductive capacity of female offsprings]

The influence of the bulls on the reproductive ability of their daughters has been studied on 17664 daughter heifers of 579 black-and-white and Simmenthal bulls. Hereditary-stipulated differences in the fertility of the bulls' offspring and their influence on the formation of the reproductive ability of their daughters have been established.     

Mathematical simulation of the regulation of the size of the lymphoid population in relation to chronic lymphoid leukemia

A model was constructed of accumulation kinetics of labeled lymphocytes based on the experiments of long-term injection of 3H-thymidine label in vivo into the blood of healthy and suffering from chronic lympholeucosis animals. There was found an essential difference between the coefficients of reproduction and death of cells of the proliferating pool for the normal, initial and advanced stages of the disease. This served as a basis for the creation of the closed non-linear model of autoregulation of lymphoid population size describing different stages of leucosis development.     

Etiology and structure of infectious complications of cytostatic therapy in children with acute lymphoblastic leukemia and non-B-cell non-Hodgkin lymphomas

A retrospective analysis of medical histories with acute lymphoblast leucosis and non-B-cell non-Hodgkin lymphomas made it possible to reveal infectious complications of cytostatic therapy in 100% of children, namely: sepsis (0.3%), unidentified infection (12%), local infection (87.7%). Infectious complications of the cytopenic nature were localized mainly in the upper sections of the gastrointestinal tract and in upper respiratory tract. Bacterial infectious complications caused by opportunistic microorganisms with the prevalence of Gram positive flora, resistant to cephalosporins of generations I and II, occurred most frequently.     

Sharing reference data and including cows in the reference population improve genomic predictions in Danish Jersey

Small reference populations limit the accuracy of genomic prediction in numerically small breeds, such like Danish Jersey. The objective of this study was to investigate two approaches to improve genomic prediction by increasing size of reference population in Danish Jersey. The first approach was to include North American Jersey bulls in Danish Jersey reference population. The second was to genotype cows and use them as reference animals. The validation of genomic prediction was carried out on bulls and cows, respectively. In validation on bulls, about 300 Danish bulls (depending on traits) born in 2005 and later were used as validation data, and the reference populations were: (1) about 1050 Danish bulls, (2) about 1050 Danish bulls and about 1150 US bulls. In validation on cows, about 3000 Danish cows from 87 young half-sib families were used as validation data, and the reference populations were: (1) about 1250 Danish bulls, (2) about 1250 Danish bulls and about 1150 US bulls, (3) about 1250 Danish bulls and about 4800 cows, (4) about 1250 Danish bulls, 1150 US bulls and 4800 Danish cows. Genomic best linear unbiased prediction model was used to predict breeding values. De-regressed proofs were used as response variables. In the validation on bulls for eight traits, the joint DK-US bull reference population led to higher reliability of genomic prediction than the DK bull reference population for six traits, but not for fertility and longevity. Averaged over the eight traits, the gain was 3 percentage points. In the validation on cows for six traits (fertility and longevity were not available), the gain from inclusion of US bull in reference population was 6.6 percentage points in average over the six traits, and the gain from inclusion of cows was 8.2 percentage points. However, the gains from cows and US bulls were not accumulative. The total gain of including both US bulls and Danish cows was 10.5 percentage points. The results indicate that sharing reference data and including cows in reference population are efficient approaches to increase reliability of genomic prediction. Therefore, genomic selection is promising for numerically small population.     

Grandmaternal ages at birth of parents of children with down syndrome in St. Petersburg

Data on the age of grandparents of 243 children with Down syndrome (DS) born between 1990 and 1999 are considered in this work in comparison with control families of 330 healthy children. In 102 families, where the age of the mother at the birth of a child with DS was younger 30 (or less than 30) years, the median ages of both maternal and paternal grandmothers of probands were actually the same (26 years). Actually, the median age of grandmothers in 226 young families having healthy children were also the same (27 years). No differences in the indicators in question were revealed between 141 families with DS and 104 families with healthy children, where the mothers were older than 29 years. Thus, our results have not confirmed the hypothesis about the influence of the age of DS probands’ grandmothers on the segregation of chromosomes in their daughters’ oogenesis, as well as the hypothesis about a significant contribution of the inherited trisomy of chromosome 21 to the frequency of DS in the general population.     

Evidence of sex-linked effects on the inheritance of human longevity: a population-based study in the Valserine valley (French Jura), 18-20th centuries

A long-standing puzzle in gerontology is the sex dependence of human longevity and its inheritance. We have analysed the sex-linked pattern of inheritance of longevity from 643 nuclear families on the historical population register of a French valley. We have focused on mean conditional life expectancy at a minimum age of 50 years, thus, in the present study, longevity refers to late or post-reproductive survival. A comparison of parents' and offspring's longevity has shown the existence of a heritable component of late survival in this population. We have found that the heritable component was substantially larger for daughters compared to sons. Moreover, this result appeared to be specific to late survival, that is, when only post-reproductive mortality for parental and offspring generations is taken into account. The stronger resemblance of parents to their daughters was no longer observed when considering younger ages at death for the offspring. This observation explains the hitherto unaccountable diversity of data in previous studies.     

Lack of association of bovine MHC class I alleles with carcass and reproductive traits

The present study was carried out to examine whether a relationship between bovine major histocompatibility complex (BoLA) class I alleles and carcass traits or reproductive performance exists in Braunvieh and Fleckvieh A1 (artificial insemination) bulls. The influence of BoLA class I (BOLA-A) alleles on deregressed breeding values for net growth rate, carcass index and thigh volume was assessed in Braunvieh crosses and Fleckvieh bulls with a gene substitution model. The reproductive traits: non-return rate and interval between first and last insemination of daughters (female fertility), as well as non-return rate of inseminated cows (male fertility), were only investigated in Fleckvieh animals. No influence of the BOLA-A region on the traits evaluated could be demonstrated. An improper, i.e. less restrictive analysis would have led to spurious results.     

Binational evaluation of type traits from Germany and France with a single-trait MACE animal model

Binational genetic evaluation between Germany and France were performed for each type trait using a single-trait MACE (multiple across-country evaluation) model. Daughter yield deviations (DYD) of bulls having 30 equivalent daughter contributions or more were the data for parameter estimation. Full pedigree information of bulls was used via sire and dam relationships. In general, across-country genetic correlation estimates were in agreement with what is observed by Interbull. The estimated correlations were over 0.93 for stature, rump angle, udder depth, front teat placement, teat length and rear teat placement. These traits have been classified in both countries for a long period of time. However, some other type traits were included later in the French type classification system (most of them since 2000): chest width, body depth, angularity, rump width, rear leg rear view, fore udder and rear udder height. The estimated correlations for these traits were relatively low. In order to check changes in genetic correlations over time, data from bulls born until the end of 1995 were discarded. Higher genetic correlation estimates between both countries were obtained by using more recent data especially for traits having lower genetic correlation, e.g. body depth correlation increased from 0.55 to 0.83. Once genetic correlations were estimated, binational genetic evaluation between Germany and France were performed for each type trait using DYD of bulls. The rankings of bulls obtained from this evaluation had some differences with Interbull rankings but a similar proportion of bulls from each country was found. Finally, more computationally demanding binational evaluations were performed using yield deviations of cows for binational cow comparison. The rankings obtained were influenced by the number of daughters per bull and heritabilities used in each country.