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Estimation of additive and nonadditive genetic variances in Hereford, Gelbvieh, and Charolais by Method R.

Parameters for direct and maternal dominance were estimated in models that included non-additive genetic effects. The analyses used weaning weight records adjusted for age of dam from populations of Canadian Hereford (n = 467,814), American Gelbvieh (n = 501,552), and American Charolais (n = 314,552). Method R estimates of direct additive genetic, maternal additive genetic, permanent maternal environment, direct dominance, and maternal dominance variances as a proportion of the total variance were 23, 12, 13, 19, and 14% in Hereford; 27, 7, 10, 18, and 2% in Gelbvieh; and 34, 15, 15, 23, and 2% in Charolais. The correlations between direct and maternal additive genetic effects were -0.30, -0.23, and -0.47 in Hereford, Gelbvieh, and Charolais, respectively. The correlations between direct and maternal dominance were -0.38, -0.02, and -0.04 in Hereford, Gelbvieh, and Charolais, respectively. Estimates of inbreeding depression were -0.20, -0.18, and -0.13 kg per 1% of inbreeding for Hereford, Gelbvieh, and Charolais, respectively. Estimates of the maternal inbreeding depression were -0.01, -0.02, and -0.02 kg, respectively. The high ratio of direct dominance to additive genetic variances provided some evidence that direct dominance effects should be considered in beef cattle evaluation. However, maternal dominance effects seemed to be important only for Hereford cattle.

Animals↗

Selection in Hereford cattle. II. Expected and realized response.

Data from 14 inbred lines and 14 linecross groups of Hereford cattle at the San Juan Basin Research Center, Hesperus, were used to evaluate expected and realized response in birth and weaning traits and postweaning traits in males and females over a 28-yr period. There were large differences in the means and variances of the performance traits among the inbreds and linecrosses, with the inbreds showing inbreeding depression and greater variability among lines, while the linecrosses manifested within-breed heterosis. Except for gain from weaning to 12 mo, in females, genetic progress was expected in all traits studied, mainly due to sire selection. Regressions of annual trait means on years indicated positive phenotypic trends in the inbreds for heart girth circumference at birth, adjusted weaning weight (adjusted for inbreeding), weaning score, final weight, feed consumption and the yearling weights and gains in females. Changes were negative for other traits. In the linecross group phenotypic trends were positive in all traits except heart girth circumference, weaning age, initial test weight and feed efficiency. Estimated genetic progress per generation due to within-line selection was negative in most of the traits in the inbreds but was considerably positive for the linecrosses for most of the traits. As expected, between-line selection yielded greater genetic improvement in the inbred than in the linecross population. The different patterns of response in the two populations are attributed to high rates and levels of inbreeding. Although variable, the actual progress was below prediction in most of the traits studied.

Animals↗

Stochastic modeling of multiple ovulation and embryo transfer breeding schemes in small closed dairy cattle populations.

Genetic changes and genetic drift in three small closed dairy cattle populations were examined with a stochastic simulation model. Multiple ovulation and embryo transfer and AI techniques were simulated in three populations, two with 88 breeding females each and one with 352 breeding females. The selection goal was to maximize genetic improvement in milk yield. The reduction in genetic variation due to inbreeding and linkage disequilibrium was accounted for in the simulation. Strict restriction against inbred mating slowed genetic progress significantly in the small population but would not be consequential in the larger population. However, allowing inbred mating in the smaller population caused a rapid accumulation of inbreeding. Linkage disequilibrium was as important as inbreeding in reducing genetic variation. Genetic drift variance was much smaller in the larger population.

Animals↗

Additive and nonadditive genetic variance in female fertility of Holsteins.

Additive and nonadditive genetic variances were estimated for cow fertility of Holsteins. Measures of fertility were first lactation days open and service period as recorded and with upper bounds of 150 and 91 d, respectively. Six million inseminations from the Raleigh, North Carolina Processing Center were used to form fertility records of 379,009 cows. Data were analyzed with a model accounting for all additive, dominance, and additive by additive covariances traced through sires and maternal grandsires. Variance components were estimated by the tilde-hat approximation to REML. Heritability in the narrow sense was 2% for days open and .8% for service period. Dominance and additive by additive variance as a percentage of phenotypic variation strongly depended on imposition of upper bounds. Heritabilities in the broad sense ranged from 2.2 to 6.6% and were at least twice as large as heritabilities in the narrow sense. Effect of 25% inbreeding was only around an additional 3 d open. Specific combining abilities among bulls were estimated as sums of dominance and additive by additive interactions removing effect of inbreeding depression. Differences between maximum and minimum estimates were in the order of twice the estimated standard deviation, ranging from 1.5 to 6.7 d. Effects of inbreeding and specific combining ability could be jointly considered in mating programs following sire selection.

Animals↗

[Medicogenetic study of isolates in Uzbekistan. I. Statement of the problem and characteristics of the groups studied].

The paper comprises results of studying some demographic and populaton characteristics of the inhabitans of the Samarkand region as a whole and two villages, Karakent and Ishan, inhabited with Uzbeks-Khoja, a special religious-social caste in the past. It is shown that 87.4% of marriages in the Samarkand region are of international character (the information has been obtained on 7995 married couples). The frequency of consanguineous marriages is 11.6%, and among them 40.5% are first-cousin marriages and 39.1% are marriages of remote relatives. The coefficients of inbreeding are rather high among the Jewish, Tajik and Uzbek communities. The coefficient of inbreeding as a whole is F=0.0042 in this region and approaches to the maximal level, characterizing a panmix population. The average size of a family in the villages of Karakent and Ishan is approximately 4.0 persons. The values of reproductive performance, the nature of termination of pregnancies do not differ from those of panmix population. The percentage of intravillage and consanguineous marriages are 56% and 12.5% for the first village, and 25% and 2% for the second one respectively. The coefficient of inbreeding for karakent is F=0.0064, for Ishan--F=0.0014. Taking into consideration the historical development of the two villages and the cumulative data, the conclusion is drawn that Karakent is an isolate on a religious ground whereas Ishan is a disintegrated isolate.

Adolescent↗

[Consanguineous analysis of oligophrenia].

Consanguineous analysis of 214 cases of oligophreny has shown a statistically significant higher level of inbreeding in a population of oligophrenes as compared to the general population. No linear dependence was observed between the degree of oligophrenic defect and the inbreeding coefficient. A high statistically significant level of inbreeding was established in cases of familial oligophreny as compared to sporadic oligophreny. A probability of the existence of the genes of oligophreny linked with the X-chromosome is not excluded.

Chromosome Aberrations↗

[Population genetic analysis of the new dog breed Elo].

The breeding of the dog breed Elo was started in 1987. This dog breed was established by using 16 dogs of nine different breeds. All pedigree information of the dogs from 1987 to 2002 was included for the analysis of the proportion of genes of the different founder breeds, of the inbreeding coefficient, and relationship coefficients. Additionally, the number of died puppies per litter were investigated. The Eurasian dog breed contributed about 48% of the genes in the whole Elo dog population. Old English sheepdog and Chow Chow contributed about 23% and 10% of the genes. The other dog breeds were of minor importance. The mean inbreeding and relationship coefficients of the whole Elo dog population were 12.04% and 19.22%, respectively. With the exception of 3.5% of animals, all Elo dogs were related to each other. The mean litter size was 6.39 puppies. The percentage of stillborn puppies per litter averaged at 9.47%. The inbreeding coefficients of the puppies and of their dams, the age of the sire and the dam at the time of birth of the puppies, the litter size, the puppies' year of birth and the proportion of genes of the Chow Chow showed a significant effect on the number of stillborn puppies per litter. The heritability for the frequency of stillborn puppies was estimated using a linear animal model. After transformation of the linear estimates to the underlying liability scale, the heritability amounted to h2 = 0.15.

Animals↗

Local heterozygosity-fitness correlations with global positive effects on fitness in threespine stickleback.

The complex interactions between genetic diversity and evolution have important implications in many biological areas including conservation, speciation, and mate choice. A common way to study these interactions is to look at heterozygosity-fitness correlations (HFCs). Until recently, HFCs based on noncoding markers were believed to result primarily from global inbreeding effects. However, accumulating theoretical and empirical evidence shows that HFCs may often result from genes being linked to the markers used (local effect). Moreover, local effect HFCs could differ from global inbreeding effects in their direction and occurrence. Consequently, the investigation of the structure and consequences of local HFCs is emerging as a new important goal in evolutionary biology. In this study of a wild threespine stickleback (Gasterosteus aculeatus) population, we first tested the presence of significant positive or negative local effects of heterozygosity at 30 microsatellites loci on five fitness components: survival, mating success, territoriality, length, and body condition. Then, we evaluated the direction and shape of total impact of local HFCs, and estimated the magnitude of the impacts on fitness using regression coefficients and selection differentials. We found that multilocus heterozygosity was not a reliable estimator of individual inbreeding coefficient, which supported the relevance of single-locus based analyses. Highly significant and temporally stable local HFCs were observed. These were mainly positive, but negative effects of heterozygosity were also found. Strong and opposite effects of heterozygosity are probably present in many populations, but may be blurred in HFC analyses looking for global effects only. In this population, both negative and positive HFCs are apparently driving mate preference by females, which is likely to contribute to the maintenance of both additive and nonadditive genetic variance.

Animals↗

A genealogical study of Alzheimer disease in the Saguenay region of Quebec.

We performed an analysis of inbreeding and kinship among the ascending genealogies of 205 autopsy-confirmed Alzheimer disease (AD) subjects recruited in the Saguenay area of Québec. We hypothesized that if some traits pertaining to the disease were determined by inherited factors, and if the corresponding genes were not too frequent in the population, it might be possible to detect some clusters of patients related to common ancestors and presenting a level of kinship and/or inbreeding higher than is observed in the unaffected population of the same age. In view of the heterogeneity of the disease, we also verified if some of the factors investigated could be associated more specifically with subsets of cases based on age of onset and on apolipoprotein E (APOE) genotype. Results were compared with those obtained on 205 controls matched for gender, place and year of birth. We found that late-onset AD cases with an APOE-epsilon 4 were significantly more inbred than controls and that this increase was explained by the high level of inbreeding of a few cases whose parents were related at the first-cousin level. This could possibly indicate the implication of a recessive element in a small subset of AD cases in the Saguenay population. We also found that late-onset epsilon 4+ cases were significantly more closely related among themselves than with controls. This increase in kinship may be attributable to the presence of the epsilon 4 allele or to some other unidentified genetic factor possibly acting in conjunction with APOE-epsilon 4.

Age of Onset↗

Consanguineous marriage in Jordan.

We conducted a population-based study of consanguineous marriages in Jordan. About two thousand households were interviewed. First cousin marriages were encountered in 32.03%, second cousin in 6.8%, distant relation in 10.5%, and no relation in 50% of all marriages, respectively. Inbreeding coefficients were compared with those of other countries. The most important variables affecting inbreeding were social tradition, religion, education, and place of residence--urban vs. rural. Secular trends appear rather stable since the early decades of the twentieth century, especially for first cousin marriages. Jordan society showed a deeply rooted traditional behavioral pattern when inbreeding is considered.

Adult↗

Genetic structure of the Utah Mormons: isonymy analysis.

Isonymy analysis is reported for a sample of 188,895 marriages extracted from the Utah Genealogical Database. Inbreeding rates estimated by isonymy are low, ranging from 0.005 for the earliest marriage cohort (1800-1809) to 0.0008 in the most recent cohort (1950-1959). The inbreeding values decrease considerably through time, but they are consistently higher than inbreeding values estimated from pedigrees. Several explanations are offered for this, including polyphyletism of surnames and the presence of Scandinavian patronyms in this population. Random isonymy between subdivisions is also compared with random kinship estimated from migration matrices. In terms of within-subdivision kinship, the two approaches yield similar results. However, the results are quite dissimilar for between-subdivision kinship. This reflects the recent and nonrandom settlement of Utah by different ethnic groups with different surname distributions. In later time periods, the correlations between the two types of kinship estimates increase, showing that migration patterns (which are strongly determined by geographic distance) exert an increasing influence on the distribution of surnames. Logistic regression is performed on a subset of marriages (n = 88,202), using isonymous vs. nonisonymous marriage as the dependent variable. The independent variables are year of marriage, geographic distance between husband's and wife's birthplaces, endogamous vs. exogamous marriage, and population sizes of husband's and wife's birthplaces. Year of marriage and geographic distance are shown to be significant independent predictors of isonymous marriage.

Christianity↗

Relative effects of maternal and pup hereditary on postnatal mouse development.

This study was designed to assess the separate effects of inbreeding the mother and the pups on behavioral development in the mouse. The pups were tested on a standardized developmental rating scale at 32 days gestational age. The results indicated that maternal inbreeding retarded developmental by 1.5 days and that inbreeding the pups retarded development by .7 days.

Animals↗

Impact of parental relationships in maximum lod score affected sib-pair method.

Many studies are done in small isolated populations and populations where marriages between relatives are encouraged. In this paper, we point out some problems with applying the maximum lod score (MLS) method (Risch, [1990] Am. J. Hum. Genet. 46:242-253) in these populations where relationships exist between the two parents of the affected sib-pairs. Characterizing the parental relationships by the kinship coefficient between the parents (f), the maternal inbreeding coefficient (alpha(m), and the paternal inbreeding coefficient (alpha(p)), we explored the relationship between the identity by descent (IBD) vector expected under the null hypothesis of no linkage and these quantities. We find that the expected IBD vector is no longer (0.25, 0.5, 0.25) when f, alpha(m), and alpha(p) differ from zero. In addition, the expected IBD vector does not always follow the triangle constraints recommended by Holmans ([1993] Am. J. Hum. Genet. 52:362-374). So the classically used MLS statistic needs to be adapted to the presence of parental relationships. We modified the software GENEHUNTER (Kruglyak et al. [1996] Am. J. Hum. Genet. 58: 1347-1363) to do so. Indeed, the current version of the software does not compute the likelihood properly under the null hypothesis. We studied the adapted statistic by simulating data on three different family structures: (1) parents are double first cousins (f=0.125, alpha(m)=alpha(p)=0), (2) each parent is the offspring of first cousins (f=0, alpha(m)=alpha(p)=0.0625), and (3) parents are related as in the pedigree from Goddard et al. ([1996] Am. J. Hum. Genet. 58:1286-1302) (f=0.109, alpha(m)=alpha(p)=0.0625). The appropriate threshold needs to be derived for each case in order to get the correct type I error. And using the classical statistic in the presence of both parental kinship and parental inbreeding almost always leads to false conclusions.

Computer Simulation↗

Causes and consequences of natal dispersal in root voles, Microtus oeconomus.

To test the causes and consequences of variation in natal dispersal in root voles we released 53 matrilines (mothers with newly weaned litters) separately in field enclosures, during nine consecutive periods. The matrilines could disperse and distribute themselves among three pre-emptied habitat patches. Two dispersal measures were recorded: short-distance dispersal defined as individuals immigrating to a neighbouring patch, and long-distance dispersal defined as unsettled individuals captured along the fence of the enclosures. We analysed the role of social factors (i.e. maternal and litter characteristics), habitat quality (i.e. seasonal effect) and experimentally manipulated shape of the natal patch in dispersal. The consequences of dispersal were analysed with respect to the spatial distribution of kin, and to pregnancy in females and sexual maturation in males. Dispersal was unrelated to patch shape. In agreement with the inbreeding avoidance hypothesis, long-distance dispersal was male biased and philopatric males were most frequently reproductively inactive. Whilst young males avoided their mother, they seemed to disperse, settle and mature sexually independently of their sisters. In agreement with the resource competition hypothesis, young females avoided their mother and were most frequently reproductively inactive when residing in their mother's patch. We conclude that inbreeding avoidance was underlying the male dispersal pattern. For females, long-distance dispersal was most in agreement with the inbreeding avoidance hypothesis while short-distance dispersal could be explained by the resource competition hypothesis. (c) 1998 The Association for the Study of Animal Behaviour.

Journal Article↗

Demographic consequences of incest avoidance in the cooperatively breeding acorn woodpecker.

The avoidance of breeding with close relatives is an adaptation to inbreeding depression. Unfortunately, inbreeding depression has proved difficult to document or measure in the wild, despite being frequently observed among animals in captivity. We address this problem indirectly by determining the demographic cost of incest avoidance in the cooperatively breeding, polygynandrous acorn woodpecker, Melanerpes formicivorus, following the death or disappearance of all breeders of one sex within a group (a reproductive vacancy). Groups undergoing female vacancies that also contained female nonbreeding helpers experienced significantly lower reproductive success in each of the subsequent 3 years than those in which either no nonbreeding helpers or only male nonbreeding helpers were present, a decrease attributable to incest avoidance between the helper females and the related breeder males in the group. Using a computer simulation combined with a life-table analysis, we estimated that incest avoidance costs the population 9.2-12.1% in overall reproductive potential (measured in fledglings/female) and decreases the population rate of increase by 1.78-2.33%/year. These results suggest the presence, on average, of at least 1.2-1.8 lethal equivalents per individual, a value of the same magnitude as estimated for several other taxa, including humans. Incest avoidance may compound random demographic and environmental events and significantly facilitate the decline of threatened populations even prior to any detrimental effects of inbreeding depression per se. Copyright 1999 The Association for the Study of Animal Behaviour.

Journal Article↗

Effects of population size and metapopulation dynamics on a mating-system polymorphism.

The evolutionary dynamics of neutral alleles under the Wright-Fisher model are well understood. Similarly, the effect of population turnover on neutral genetic diversity in a metapopulation has attracted recent attention in theoretical studies. Here we present the results of computer simulations of a simple model that considers the effects of finite population size and metapopulation dynamics on a mating-system polymorphism involving selfing and outcrossing morphs. The details of the model are based on empirical data from dimorphic populations of the annual plant Eichhornia paniculata, but the results are also of relevance to species with density-dependent selfing rates in general. In our model, the prior selfing rate is determined by two alleles segregating at a single diploid locus. After prior selfing occurs, some remaining ovules are selfed through competing self-fertilisation in finite populations as a result of random mating among gametes. Fitness differences between the mating-system morphs were determined by inbreeding depression and pollen discounting in a context-dependent manner. Simulation results showed evidence of frequency dependence in the action of pollen discounting and inbreeding depression in finite populations. In particular, as a result of selfing in outcrossers through random mating among gametes, selfers experienced a "fixation bias" through drift, even when the mating-system locus was selectively neutral. In a metapopulation, high colony turnover generally favoured the fixation of the outcrossing morph, because inbreeding depression reduced opportunities for colony establishment by selfers through seed dispersal. Our results thus demonstrate that population size and metapopulation processes can lead to evolutionary dynamics involving pollen and seed dispersal that are not predicted for large populations with stable demography.

Alleles↗

High-temperature stress and the evolution of thermal resistance in Drosophila.

The evolution of thermal resistance and acclimation is reviewed at the population level using populations and isofemale lines of Drosophila buzzatii and D. melanogaster originating from different climatic regions. In general, ample genetic variation for thermal resistance was found within and among populations. A rough correlation between the climate of origin and thermal resistance was apparent. Acclimation at a non-lethal temperature led to a significant increase in survival after heat shock, and recurrent acclimation events generally increased survival even further. Acclimation effects lasted over several days, but this effect decreased gradually with time since acclimation. Protein studies showed that the concentration of Hsp70 in adult flies is greatly increased by acclimation and thereafter gradually decreases with time. For populations with relatively high survival at one life stage, survival often was low at other life stages. Furthermore, selection on different life stages showed that a selection response in one life stage did not necessarily result in a correlated response in another. These observations indicate that different mechanisms or genes at least in part are responsible for or are expressed at different developmental stages. Selection for increased resistance was successful despite low heritabilities for the trait. Survival and fertility were compared between acclimated and non-acclimated flies, and a cost of expressing the "heat shock response" was identified in that increased survival after acclimation was accompanied by reduced fertility. The relative costs increased under nutritional stress. Metabolic rate was genetically variable but did not correlate with temperature resistance. The more resistant lines, however, often had shorter developmental time. Inbreeding reduced thermal stress tolerance of adult flies, but it did not reduce tolerance of embryos that possibly are exposed to strong natural selection for thermal stress resistance. In general, inbreeding may reduce stress resistance, and thus multiple stressful events may account for increased inbreeding depression in harsh environments.

Acclimatization↗

Heterozygosity in inbred strains of the tree-hole mosquito Aedes triseriatus.

Inbred stocks of the tree-hole mosquito Aedes triseriatus from four localities were developed using full-sib mating. The progress of inbreeding was followed electrophoretically at eight variable and six less variable enzyme loci. Rates of fixation of several of these loci were substantially lower than expected. Discrepancies between observed and expected fixation values were evident in the early stages of inbreeding and became larger as inbreeding progressed. Odh, Hbd, Pgm, and Hk-4 were usually not fixed. By the F12 and F14 generations of brother-sister mating, most individuals in the two lines were heterozygotes (Odh and Hbd in the TK lines and Odh, Hbd, Pgm, and Hk-4 in the TV lines). The probability of maintaining heterozygosity at several selectively neutral and unlinked loci simultaneously is very low. Odh, Hbd, Pgm, and Hbd loci are linked to lethal recessives on chromosome 2, creating a balanced lethal system which in turn accounts for the heterozygosity in these inbred mosquitoes.

Aedes↗