Response to selection while maximizing genetic variance in small populations.

Assessment of inbreeding depression in a Guzerat dairy herd: Effects of individual increase in inbreeding coefficients on production and reproduction

The main focus of this thesis is the optimization of breeding programmes. On the one hand a new method to account for the average inbreeding in the design of breeding programmes has been developed. On the other hand two entirely different breeding programmes have been modelled and current optimization approaches are validated using these reference programmes. When calibrating the programmes potential natural and monetary genetic gains as well as the discounted profit are taken into consideration. In the project FUGATO+brain the software ZPLAN for optimization of breeding programmes was re-programmed and further tools were added. The result of the project is the software ZPLAN+. This software enables the user to model and optimise complex breeding programmes. In addition, the software is user friendly and covers all areas of breeding programmes and hence can be used in various contexts. To calculate the average inbreeding and effective population size in complex breeding programmes, a new method has been developed. The method is based on the average kinship in breeding populations. The kinship is defined as the probability that within a group at the same locus two randomly chosen alleles are identical by descent. The calculation of the Kinship is based on the gene flow theory. To validate the method, a sheep population described earlier was used and modified in different ways. Three different scenarios were modelled. The first scenario assumes population growth. In the second scenario it is assumed that the population size is reduced by a bottleneck and then increased again. For the third scenario the population was divided in two parts over a period and then brought together again. The results of this validation exercise show that average inbreeding and effective population size can be calculated in all three scenarios. In a breeding programme for sport horses usage of embryo transfer was validated. A basic breeding programme in ZPLAN+ was modelled, which reflects the current breeding programme of the Hannoveraner Verband e.V. approximately. Using different scenarios, a more rigorous selection on the mares’ side was modelled. The best mares in the breeding programme were used as donor mares for embryo transfer. It was assumed that for selection of the donor mares information of stud book inspection as well as results of a mare performance test are available. The number of mares available for selection, the number of selected mares and the number of born foals per donor mare were varied in order to validate the methodology. The results show that the usage of embryo transfer offers one possibility to increase genetic gain in a breeding programme strongly. However using embryo transfer implies a steep increase in costs for the breeders. The proposed approach for calculating inbreeding showed that the rigorous selection and the intensive usage of donor mares results in an increase of the average inbreeding and consequently a reduction of the effective population size. The third section of this thesis examines the effects of including and using genomic information in a layer breeding programme. A breeding programme to produce 500 million laying hens has been modelled using ZPLAN+ in close cooperation with the Lohmann Tierzucht GmbH. The production of the parents is based on a crossing of four nucleus lines. The conventional selection is based primarily on performance testing of hens of the different lines. In order to utilise the genomic information two different calibration sets were used (500 and 2`000 animals). In a first step, the genomic information of the cocks has been used in addition to all conventional selection criteria. The number of cocks was varied and in a further step it was assumed that the hens are also genotyped. In another scenario, the selection was based on pedigree and genomic information only. It became clear that the generation interval could be strongly reduced in the second variant. The genetic gain could be increased in all modelled variants, but there were differences in individual traits. The implementation of genomic information into layer breeding programmes is connected to a massive increase in costs. Whether the increased genetic gain justifies the increase costs requires a market analysis by the breeding companies.

Pedigree analysis of Iran-Black sheep and inbreeding effects on growth and reproduction traits

Reproductive isolation of cattle herds should have significant negative genetic consequences, including inbreeding depression and the loss of diversity through genetic drift. Cattle herds may also suffer detrimental effects on genetic variance caused by other demographic and population parameters such as effective population size, strong selection and founder effects. In the present study we use pedigree records to evaluate these potential impacts on a closed nucleus Angus from U.S. and an open multiplier Nellore herd from Brazil. The combined description of population structure and genetic variability of these two herds indicates that it is possible to maintain genetic variability with medium levels of inbreeding in herds with strong selection and small effective population size. Additionally, the analysis illustrates the importance of pedigree depth for accurately estimating population parameters, particularly, inbreeding and effective population size.

Microsatellite-associated heterosis in hatchery-propagated stocks of the shrimp Penaeus stylirostris

SummaryIndividual increase in inbreeding coefficients (ΔFi) has been recommended as an alternate measure of inbreeding. It can account for the differences in pedigree knowledge of individual animals and avoids overestimation due to increased number of known generations. The effect of inbreeding (F) and equivalent inbreeding (EF) calculated fromΔFi, on growth traits were studied in Nilagiri and Sandyno flocks of sheep. The study was based on data maintained at the Sheep Breeding Research Station, Sandynallah. The pedigree information and equivalent number of generations were less in Sandyno compared with Nilagiri sheep. The average F and EF for the Nilagiri population were 2.17 and 2.44, respectively and the corresponding values for Sandyno sheep were 0.83 and 0.84, respectively. The trend of inbreeding over years in both the populations indicated that EF was higher during earlier generations when pedigree information was shallow. Among the significant effects of inbreeding, the depression in growth per 1 percent increase in inbreeding ranged from 0.04 kg in weaning weight to 0.10 kg in yearling weight. In general, more traits were affected by inbreeding in Nilagiri sheep, in which greater regression of growth traits was noticed with F compared with EF. Higher values of EF than F in earlier generations in both the populations indicate that EF avoided the potential overestimation of inbreeding coefficient during recent generations. In the Sandyno population, the magnitude of depression noticed among growth traits with significant effects of inbreeding was higher. The differences in response to F and EF noticed in the two populations and possible causes for the trait wise differences in response to F and EF are appropriately discussed.

Genetic diversity underpins the ability of populations to persist and adapt to environmental changes. Substantial empirical data show that genetic diversity rapidly deteriorates in small and isolated populations due to genetic drift, leading to reduction in adaptive potential and fitness and increase in inbreeding. Assisted gene flow (e.g. via translocations) can reverse these trends, but lack of data on fitness loss and fear of impairing population “uniqueness” often prevents managers from acting. Here, we use population genetic and riverscape genetic analyses and simulations to explore the consequences of extensive habitat loss and fragmentation on population genetic diversity and future population trajectories of an endangered Australian freshwater fish, Macquarie perch Macquaria australasica. Using guidelines to assess the risk of outbreeding depression under admixture, we develop recommendations for population management, identify populations requiring genetic rescue and/or genetic restoration and potential donor sources. We found that most remaining populations of Macquarie perch have low genetic diversity, and effective population sizes below the threshold required to retain adaptive potential. Our simulations showed that under management inaction, smaller populations of Macquarie perch will face inbreeding depression within a few decades, but regular small‐scale translocations will rapidly rescue populations from inbreeding depression and increase adaptive potential through genetic restoration. Despite the lack of data on fitness loss, based on our genetic data for Macquarie perch populations, simulations and empirical results from other systems, we recommend regular and frequent translocations among remnant populations within catchments. These translocations will emulate the effect of historical gene flow and improve population persistence through decrease in demographic and genetic stochasticity. Increasing population genetic connectivity within each catchment will help to maintain large effective population sizes and maximize species adaptive potential. The approach proposed here could be readily applicable to genetic management of other threatened species to improve their adaptive potential.

In the present study, we analysed 18 red deer specimens from a small (N = 50) and isolated population in Schleswig-Holstein, northern Germany, with respect to variability at nine polymorphic microsatellite loci and 439 bp of the mitochondrial DNA control region. Several cases of brachygnathy (shortened lower jaw), commonly associated with inbreeding depression, have been recorded in the population. Genetic variability was very low compared with other European red deer populations including the neighbouring population from which the population under study was derived some 130 years ago. The effective population size was estimated to be seven individuals corresponding to an increase in inbreeding (or a loss of heterozygosity) of 7% each generation. This value is seven times higher than the theoretical threshold level up to which natural selection is believed to counteract the fixation of deleterious alleles in the gene pool. As a consequence, the population urgently needs genetic input from other populations to overcome the negative effects of random drift and inbreeding. To our knowledge, this study is one of the first to genetically analyse a red deer population showing strong signs of inbreeding depression.

Because of a traditional interest in inbreeding as a tool for breed improvement, it was desirable to evaluate the effects of inbreeding on the most important products of the sheep industry, lamb and wool production. The data for this study were based on 13,807 ewe and 16,470 lamb records from Rambouillet (R), Targhee (T), and Columbia (C) sheep collected over 9 or 10 yr from 54 inbred lines. Average inbreeding of the lambs and ewes involved was near 25 and 20%, respectively. The combined effects of lamb's and dam's inbreeding reduced litter weight weaned at 120 d approximately .5 kg for each percentage of increase in inbreeding in every breed. For ewes and lambs of average inbreeding, the reductions relative to noninbred ewes amounted to 12.4, 10.3, and 11.3 kg for R, T, and C, respectively. The reductions constituted declines in weight weaned per ewe of 34, 25, and 28%. Similarly, net reproduction rate (lambs weaned per ewes put into breeding) was reduced more than one percentage point for each percentage of increase in inbreeding, with net declines at average inbreeding of 31.7, 23.5, and 25.7 percentage points for each breed, respectively. These reductions were equivalent to reductions in net rate of 29, 20, and 23%. The combined effect of lamb and dam inbreeding reduced weaning weight by 3.5, 2.6, and 2.2 kg, which constituted reductions of 10, 7, and 6%, respectively. Reduced weaning weight was approximately 30% as important as reduced net reproduction rate in contributing to the decline in litter weight weaned. Effects on fleece weight were curvilinear and amounted to reductions of .35, .18, and .00 kg, respectively, at levels of average inbreeding; however, Columbia fleece weights declined rapidly at levels exceeding 20% for ewes. Potential selection differentials were reduced 16% at inbreeding levels of 25 and 20% for lambs and dams, respectively, and 62% at levels of 55 and 50%. The average economic loss per ewe in value of production was estimated at $17 for average inbreeding and as high as $36 for inbreeding approaching 50%. It seems that the use of inbreeding as a tool for improving productive merit in sheep is much more certain to be a detriment, economically and genetically, than an advantage.

The objective of this study was to use pedigree analysis to evaluate the population structure and genetic variability of the Mazandaran native fowls in Iran by quantifying the pedigree completeness index, effective population size, genetic diversity, inbreeding level, and individual increase in inbreeding. The pedigree completeness analysis showed 3.31 full, 10.19 maximum, and 6.30 equivalent generations. The effective number of founders (f e) was 131, representing 5% of the potential number of founders. The effective number of ancestors (f a) was 81, and the genetic contribution of the 37 most influent ancestors explained 50% of the genetic variability in the population. The ratio f e/f a (effective number of founders/effective number of ancestors), which expresses the effect of population bottlenecks, was 1.62. The inbreeding coefficient increased over generations and the average was 1.93%. The average relatedness coefficient between individuals of the population was estimated to be 2.59%. The effective population size, based on the number of full generations, was 56. Family size analysis showed that fewer males than females were used, resulting in the observed levels of inbreeding. Average inbreeding coefficient in the Mazandaran native fowls can be regarded to be below critical levels. However, considering the relationship coefficients of individuals is recommended to aid maintaining genetic diversity of Mazandaran native fowls.

The Nilagiri sheep is a dual utility (fine wool and meat), native to the Nilagiri hills of Tamil Nadu. It is known for its adaptability to high altitude and low input system of rearing. At present, this breed is endangered with less than a thousand numbers existing, of which about 50 percent is maintained at Sheep Breeding Research Station, Sandynallah. Efforts are on to conserve the breed in-situ. Generation interval (GI), pedigree completeness level, inbreeding coefficient (F), average relatedness (AR), effective population size (Ne), and effective number of founders (fe) and ancestors (fa) were studied for the breed. Pedigree analysis was carried out using data available at the research station on 5 051 animals from 1965 onwards using ENDOG ver. 4.8. Higher values of pedigree completeness (more than 80 percent for 5th generation), balance in percent of ancestors between sire and dam pathways and higher equivalent complete generations (7.12) for the reference population were indicative of the depth in pedigree. The GI, F, and AR were 3.36 years, 2.17 and 3.45 percent, respectively. Ne based on maximum number of generations and individual increase in inbreeding was 298.83 and 97.25, respectively. fe and fa were 59 and 41, respectively, for the reference population. F was far from critical values of inbreeding and fe/fa ratio indicated absence of stringent bottlenecks. The effective population size was on the higher end of the range reported for endangered sheep breeds. The knowledge on genetic diversity and effective population size coefficients would support the cause of conservation.

Estimated breeding values (EBVs) are traditionally obtained from pedigree information. However, EBVs from high-density genotypes can have higher accuracy than EBVs from pedigree information. At the same time, it has been shown that EBVs from genomic data lead to lower increases in inbreeding compared with traditional selection based on genealogies. Here we evaluate the performance with BLUP selection based on genealogical coancestry with three different genome-based coancestry estimates: (1) an estimate based on shared segments of homozygosity, (2) an approach based on SNP-by-SNP count corrected by allelic frequencies, and (3) the identity by state methodology. We evaluate the effect of different population sizes, different number of genomic markers, and several heritability values for a quantitative trait. The performance of the different measures of coancestry in BLUP is evaluated in the true breeding values after truncation selection and also in terms of coancestry and diversity maintained. Accordingly, cross-performances were also carried out, that is, how prediction based on genealogical records impacts the three other measures of coancestry and inbreeding, and viceversa. Our results show that the genetic gains are very similar for all four coancestries, but the genomic-based methods are superior to using genealogical coancestries in terms of maintaining diversity measured as observed heterozygosity. Furthermore, the measure of coancestry based on shared segments of the genome seems to provide slightly better results on some scenarios, and the increase in inbreeding and loss in diversity is only slightly larger than the other genomic selection methods in those scenarios. Our results shed light on genomic selection vs. traditional genealogical-based BLUP and make the case to manage the population variability using genomic information to preserve the future success of selection programmes.

Inland capture fisheries play a critical role in supporting food security and livelihoods in Africa. Therefore, it is important to evaluate the genetic health of exploited fish populations. The African bonytongue, Heterotis niloticus, supports important commercial and subsistence fisheries in western Africa. However, sharp declines in stocks have been reported. Herein, we estimate contemporary effective population sizes (Ne) of four Heterotis populations in Nigeria, three in Benin, and five in Cameroon using Linkage Disequilibrium methods. Ne estimates were used to assess genetic short-term (i.e., inbreeding depression) and long-term (i.e., loss of evolutionary potential) risks. Ne point estimates obtained with the best estimator (out of 16), as determined by computer simulations, were <50 (range = 5.1–36.2) for nine of the twelve populations examined, which is below the minimum recommended for avoiding the potential deleterious effects of inbreeding depression (original criterion Ne ≥ 50, revised to Ne ≥ 100); and well below the minimum recommended for populations to retain evolutionary potential (original criterion Ne ≥ 500; revised to Ne ≥ 1000). The lower bound of the confidence interval for two of the remaining populations was below the minimum recommended to retain evolutionary potential (with the point estimate of one of them also below this threshold), and for some methods, values were lower than the minimum recommended to avoid inbreeding depression. Accordingly, our results suggest that urgent conservation and management plans are needed to guarantee the persistence and sustainability of the H. niloticus populations examined.

Incorporating the sequence information only marginally increases the accuracy of genomic selection. The purpose of this study was to find out why by examining profiles of Quantitative Trait Nucleotides (QTN). Multiple populations were simulated with different effective population sizes and number of animals. 100 equidistant QTN with identical substitution effects were included in 50k SNP genotypes. Analyses were by single-step GBLUP, with solutions converted to SNP values and subsequently to p-values for each SNP. Manhattan plots for standardized SNP solutions were noisy and were elevated only for few QTNs. Manhattan plots for p-values were similar to those for SNP solutions, indicating little impact of population structure. The number of significant QTN was lower with lower effective population size and increased with larger data; at most about 20% of QTNs were detected. A QTN profile was created by averaging SNP solutions ±100 SNP around each QTN. The profile showed a normal-like response but with a distinct peak for the QTN. While the peak was higher with more data and higher effective population size, the normal-like response was smaller with higher effective population size. QTNs explained little variance because of shrinkage. The accuracy of genomic selection would be 100% if all QTNs are identified and their variances known, to prevent shrinking or inflation. This study allows to see limits of application of QTN from sequence data for genomic selection. If all causative SNP are included in the data, only a fraction of them can be identified even under a very simplistic architecture. As variance of QTN are assumed constant or are crude approximations (like in BayesR), the estimated QTN effects are inaccurate. Additional complications in QTN detection are close-spaced QTN and false QTNs due to imputation. Small effective population size allows the genomic selection by GBLUP but complicates the use of QTNs.

The role of adaptation in the divergence of lineages has long been a central question in evolutionary biology, and as multilocus sequence data sets have become available for a wide range of taxa, empirical estimates of levels of adaptive molecular evolution are increasingly common. Estimates vary widely among taxa, with high levels of adaptive evolution in Drosophila, bacteria, and viruses but very little evidence of widespread adaptive evolution in hominids. Although estimates in plants are more limited, some recent work has suggested that rates of adaptive evolution in a range of plant taxa are surprisingly low and that there is little association between adaptive evolution and effective population size in contrast to patterns seen in other taxa. Here, we analyze data from 35 loci for six sunflower species that vary dramatically in effective population size. We find that rates of adaptive evolution are positively correlated with effective population size in these species, with a significant fraction of amino acid substitutions driven by positive selection in the species with the largest effective population sizes but little or no evidence of adaptive evolution in species with smaller effective population sizes. Although other factors likely contribute as well, in sunflowers effective population size appears to be an important determinant of rates of adaptive evolution.