The influence of selection and epistasis on inbreeding depression estimates

Inbreeding depression estimates obtained by regression of the individual performance on the inbreeding were studied by stochastic simulation under various genetic models (solely additive, partial dominance, overdominance and epistasis), and mating strategies (random mating versus selection). In all models, inbreeding depression estimates based on the individual pedigree inbreeding coefficients were compared with estimates based on the true level of autozygosity. For the model with partial dominance and selection, the estimates of inbreeding depression from pedigree information were more negative (lower) than those based on true inbreeding coefficients whereas, in contrast, they were less negative (higher) for the models with overdominance and selection. The difference in the variation of true and pedigree individual inbreeding coefficient indicated that biased estimates might occur even in random mating populations. The estimation of inbreeding depression was further complicated when epistatic effects were present. The sign and the magnitude of the inbreeding effect (depression) estimates might be rather heterogeneous if additive by dominance effects are present because they are strongly dependent on the gene frequency. It was also shown that inbreeding depression is possible in models with negative additive by dominance effects. In models with dominance by dominance inheritance it was difficult to assess the non-linear relationship between performance and inbreeding, while at the same time, non-linear estimates based on pedigree information were extremely biased. The results obtained indicate that new or additional methodologies are required if reliable conclusions about consequences of inbreeding depression are needed.     

Inbreeding and inbreeding depression on reproduction and production traits of White Leghorn lines selected for egg production traits.

1. The rate of inbreeding and its effect on reproduction and egg production traits were studied in White Leghorn lines selected for egg production traits. The experiment was carried out for 10 generations in a control line (C) and in lines selected for increased egg number (EN), egg weight (EW) and egg mass (EM). 2. Data were available on reproduction traits, such as percent fertile eggs (PF), percent hatched of fertile eggs (PHF) and percent hatched of total eggs set (PHT), and on egg production traits such as age at 1st egg (AFE), egg number and egg weight. 3. The rate of increase in average inbreeding per generation was 1.50, 1.24, 1.14 and 0.18% for the line EN, EW, EM and C, respectively. The effect of inbreeding on reproduction and production traits was estimated by including the inbreeding coefficient of the hen (Fh), embryo (Fe) and mate (Fs) as a partial linear regression in the model. 4. There was a significant effect of inbreeding on reproduction traits in line EW attributable to the inbreeding of the hen, embryo and mate. No such effect was observed in the other lines. 5. In all lines inbreeding tended to reduce egg number and delay sexual maturity. In general, all lines reacted differently to inbreeding.     

Long-term responses, changes in genetic variances and inbreeding depression from 122 generations of selection on increased litter size in mice

Data on mice selected for litter size over 122 generations have been analysed in order to reveal the effect of long‐term selection on responses and changes in variances over a long selection period. Originally, three lines were established from the same base population, namely an H line selected for large litter size, an L line selected for small litter size and a K line without selection. In generation 122, the mean number of pups born alive (NBA) was 22 for the H line and 11 for the K line. Phenotypic response to selection is reduced over generations, but crossing of plateaued lines increased responses and realized heritabilities. Both realized heritabilities and heritabilities from residual maximal likelihood (REML) analyses were, in general, calculated from generation (?1)–44 (period 1), 45–70 (period 2) and 71–122 (period 3) separately. Realized heritabilities were in general smaller than heritabilities estimated from mixed model analysis. An overall estimate of heritability for NBA was found to be 0.19 (±0.01) by REML analysis. Additive variance is constant over all periods in the high line and the control line, but is reduced over periods in the low line. The reduction of additive variance in the low line could probably be explained by changes in gene frequencies. In all lines, environmental variances increased over periods. Inbreeding reduced the mean litter size by 0.72 (±0.10) pups per 10% increase in inbreeding, with substantial variance between periods and lines.     

Runs of homozygosity and analysis of inbreeding depression

Pedigree information was traditionally used to assess inbreeding. The availability of high-density marker panels provides an alternative to assess inbreeding, particularly in the presence of incomplete and error-prone pedigrees. Assessment of autozygosity across chromosomal segments using runs of homozygosity (ROH) has emerged as a valuable tool to estimate inbreeding due to its general flexibility and ability to quantify the chromosomal contribution to genome-wide inbreeding. Unfortunately, the identification of ROH segments is sensitive to the parameters used during the search process. These parameters are heuristically set, leading to significant variation in the results. The minimum length required to identify an ROH segment has major effects on the estimation of inbreeding and inbreeding depression, yet it is arbitrarily set. To overcome this limitation, a search algorithm to approximate mutation enrichment was developed to determine the minimum length of ROH segments. It consists of finding genome segments with significant effect differences in trait means between animals with high and low burdens of autozygous intervals with a specific length. The minimum length could be determined heuristically as the smallest interval at which a significant signal is detected. The proposed method was tested in an inbred Hereford cattle population genotyped for 30,220 SNPs. Phenotypes recorded for six traits were used for the approximation of mutation loads. The estimated minimum length was around 1 Mb for yearling weight (YW) and average daily gain (ADG) and 4 Mb for birth weight and weaning weight. These trait-specific thresholds estimated using the proposed method could be attributed to a trait-dependent effect of homozygosity. The detection of significant inbreeding effects was well aligned with the estimated thresholds, especially for YW and ADG. Although highly deleterious alleles are expected to be more frequent in recent inbreeding (long ROH), short ROH segments (<5 Mb) could contain a large number of less deleterious mutations with substantial joint effects on some traits (YW and ADG). Our results highlight the importance of accurate estimation of the ROH-based inbreeding and the necessity to consider a trait-specific minimum length threshold for the identification of ROH segments in inbreeding depression analyses. These thresholds could be determined using the proposed method provided the availability of phenotypic information.     

Population size and selection intensity effects on short-term response for a selection index in Tribolium

SUMMARY: The effects of population size and selection intensity on the short-term response to selection were investigated in an experiment with Tribolium, using a two-trait empirical selection index for pupal and adult weights. Twenty lines were selected following a factorial design of five population sizes (1, 2, 4, 8, and 16 pairs of parents) and four selection intensities (20, 25, 33, and 50%), with three replicates. For each replicate, an unselected control with 16 pairs of parents was produced. There were four generations of selection per line. Selection response was significant in all lines with the 20% selection intensity and/or the 16-pair population size. Selection intensity and population size were significant effects and there was significant interaction between them. Higher selection intensities produced more overall significant response to selection (20% > (25% = 33%) > 50%); this significance was also found for the 16-pair population size. There was an overall significant difference among population sizes, with the larger population sizes giving more response than the smaller sizes (16-pair = 8-pair = 4-pair) > (2-pair = 1-pair); this significance was also found for the 20% selection intensity. There was a good agreement between observed and expected responses, except for the 50% selection intensity and/or 1-pair population size; expected values in generation 1 overestimated observed values. The realized heritability was similar in all lines. With equal and high numbers of individuals scored, it was better to choose a high selection intensity than a large population size. The results show that the effect of population size cannot be ignored, even in short-term selection response; the main influence of population size is through selection differential. RESUMEN: Los efectos del tama?o de población y la intensidad de selección sobre la respuesta a corto plazo para un índice de selección en Tribolium Los efectos del tama?o de población y la intensidad de selección sobre la respuesta a la selección a corto plazo fueron estudiados en un experimento con Tribolium usando un índice empírico de selección para dos caracteres (peso de pupa y peso adulto). Se seleccionaron 20 líneas siguiendo un modelo factorial de cinco tama?os de población (1, 2, 4, 8 y 16 pares de padres) y cuatro intensidades de selección (20, 25, 33 y 50%), con tres repeticiones. En cada repetición, había una línea control sin seleccionar con 16 pares de padres. Se hicieron cuatro generaciones de selección, por línea. La respuesta a la selección fue significativa en todas las líneas con el 20% de intensidad de selección y/o 16 pares de padres. Tanto la intensidad de selección como el tama?o de población fueron efectos significativos y hubo interacción significativa entre ellos. Las intensidades de selección más altas produjeron significativamente más respuesta en general (20% > (25% = 33%) > 50%), y esta significación se mantenía cuando el tama?o de población era de 16 pares de padres. Hubo diferencias significativas entre tama?os de población, dando los mayores tama?os más respuesta en general que los menores tama?os (16 pares = 8 pares = 4 pares) > (2 pares = 1 par), manteniendose esta significación para la intensidad de selección del 20%. La concordancia entre las respuestas observadas y las esperadas era buena, excepto cuando la intensidad de selección era 50% y/o el tama?o de población era 1 par de padres; los valores esperados en la generación 1 sobreestimaban los valores observados. La heredabilidad realizada fue similar en todas las líneas. Cuando el número total de animales era igual y alto, era mejor elegir una intensidad de selección alta que un tama?o de población grande. Los resultados indican que el efecto del tama?o de población no se puede ignorar incluso en experimentos de selección a corto plazo, y que la influencia principal de este efecto es a través del diferencial de selección.     

Measuring inbreeding and inbreeding depression on pig growth from pedigree or SNP‐derived metrics

Multilocus homozygosity, measured as the proportion of the autosomal genome in homozygous genotypes or in runs of homozygosity, was compared with the respective pedigree inbreeding coefficients in 64 Iberian pigs genotyped using the Porcine SNP60 Beadchip. Pigs were sampled from a set of experimental animals with a large inbreeding variation born in a closed strain with a completely recorded multi‐generation genealogy. Individual inbreeding coefficients calculated from pedigree were strongly correlated with the different SNP‐derived metrics of homozygosity (r = 0.814–0.919). However, unequal correlations between molecular and pedigree inbreeding were observed at chromosomal level being mainly dependent on the number of SNPs and on the correlation between heterozygosities measured across different loci. A panel of 192 SNPs of intermediate frequencies was selected for genotyping 322 piglets to test inbreeding depression on postweaning growth performance (daily gain and weight at 90 days). The negative effects on these traits of homozygosities calculated from the genotypes of 168 quality‐checked SNPs were similar to those of inbreeding coefficients. The results support that few hundreds of SNPs may be useful for measuring inbreeding and inbreeding depression, when the population structure or the mating system causes a large variance of inbreeding.     

Analysis of founder-specific inbreeding depression on birth weight in Ripollesa lambs

Although inbreeding (F) is a topic of major concern in animal breeding, estimates of inbreeding depression are usually obtained by modeling the overall F coefficient of each individual, without considering that the recessive (deleterious) genetic load of a given population may be unevenly distributed among the founder genomes. The founder-specific partial F coefficient is calculated as the identity-by-descent probability at any given autosomal locus related to a particular founder and allows a more detailed analysis of inbreeding depression on productive traits. Within this context, birth BW data from 2,459 Ripollesa lambs were analyzed under a hierarchical animal model without F-related covariates (model 0), with inbreeding depression modeled by the overall F coefficient (model F1), or by the partial F coefficient of 9 founders that made a relevant contribution to the population inbreeding (model F2). A straightforward empirical Bayes factor (BF) was developed for testing statistical relevance of each F-related covariate, in which greater-than-1 values favored the model including the covariate. The deviance information criterion (DIC) clearly supported model F1 (5,767.8) rather than model 0 (5,771.2), suggesting that inbreeding depression had a relevant influence on birth BW data. The linear effect of inbreeding depression was statistically relevant in model F1 (BF = 2.52 x 10(35)), with lamb birth BW declining by -13.6 g with each 1% F increase. The quadratic effect of inbreeding depression was almost null in model F1 (BF = 0.02), as suggested by the reduction in DIC (5,766.9) when this effect was removed from model F1. On the other hand, model F2 provided a similar DIC (5,767.9) value, with this parameter decreasing to 5,764.7 when nonrelevant founder-specific inbreeding depression effects were removed. Substantial heterogeneity in founder-specific inbreeding depression was reported by model F2, in which estimates for 4 of the 9 founders did not differ from zero (BF between 0.05 and 0.42), whereas 5 founders originated moderate (-8.2 g for each 1% F increase; BF = 1.42) to large inbreeding depression (-96.2 g for each 1% F increase; BF = 8.80 x 10(19)). The substantial variability between founder estimates suggested that inbreeding depression effects may mainly be due to a few alleles with major deleterious effects. These results contribute valuable information that should help to achieve more accurate management of inbreeding in the Ripollesa breed.     

Estimation of inbreeding depression on female fertility in the Finnish Ayrshire population

Single nucleotide polymorphism (SNP) data enable the estimation of inbreeding at the genome level. In this study, we estimated inbreeding levels for 19,075 Finnish Ayrshire cows genotyped with a low‐density SNP panel (8K). The genotypes were imputed to 50K density, and after quality control, 39,144 SNPs remained for the analysis. Inbreeding coefficients were estimated for each animal based on the percentage of homozygous SNPs (F_PH), runs of homozygosity (F_ROH) and pedigree (F_PED). Phenotypic records were available for 13,712 animals including non‐return rate (NRR), number of inseminations (AIS) and interval from first to last insemination (IFL) for heifers and up to three parities for cows, as well as interval from calving to first insemination (ICF) for cows. Average F_PED was 0.02, F_ROH 0.06 and F_PH 0.63. A correlation of 0.71 was found between F_PED and F_ROH, 0.66 between F_PED and F_PH and 0.94 between F_ROH and F_PH. Pedigree‐based inbreeding coefficients did not show inbreeding depression in any of the traits. However, when F_ROH or F_PH was used as a covariate, significant inbreeding depression was observed; a 10% increase in F_ROH was associated with 5 days longer IFL0 and IFL1, 2 weeks longer IFL3 and 3 days longer ICF2 compared to non‐inbred cows.     

Pedigree analysis and inbreeding depression on growth traits in Brazilian Marchigiana and Bonsmara breeds

The study of population structure by pedigree analysis is useful to identify important circumstances that affect the genetic history of populations. The intensive use of a small number of superior individuals may reduce the genetic diversity of populations. This situation is very common for the beef cattle breeds. Therefore, the objectives of the present study were to analyze the pedigree and possible inbreeding depression on traits of economic interest in the Marchigiana and Bonsmara breeds and to test the inclusion of the individual inbreeding coefficient (F(i)) or individual increases in inbreeding coefficient (ΔF(i)) in the genetic evaluation model for the quantification of inbreeding depression. The complete pedigree file of the Marchigiana breed included 29,411 animals born between 1950 and 2003. For the Bonsmara breed, the pedigree file included 18,695 animals born between 1988 and 2006. Only animals with at least 2 equivalent generations of known pedigree were kept in the analyses of inbreeding effect on birth weight, weaning weight measured at about 205 d, and BW at 14 mo in the Marchigiana breed, and on birth weight, weaning weight, and scrotal circumference measured at 12 mo in the Bonsmara breed. The degree of pedigree knowledge was greater for Marchigiana than for Bonsmara animals. The average generation interval was 7.02 and 3.19 for the Marchigiana and Bonsmara breed, respectively. The average inbreeding coefficient was 1.33% for Marchigiana and 0.26% for Bonsmara. The number of ancestors explaining 50% of the gene pool and effective population size computed via individual increase in coancestry were 13 and 97.79 for Marchigiana and 41 and 54.57 for Bonsmara, respectively. These estimates indicate reduction in genetic variability in both breeds. Inbreeding depression was observed for most of the growth traits. The model including ΔF(i) can be considered more adequate to quantify inbreeding depression. The inclusion of F(i) or ΔF(i) in the genetic evaluation model may not result in better fit to the data. A genetic evaluation with simultaneous estimation of inbreeding depression can be performed in Marchigiana and Bonsmara breeds, providing additional information to producers and breeders.     

Role of selection and inbreeding on the incidence of cutaneous malignant melanoma in Sinclair swine

Summary This paper reports the quantitative analysis of the historical database of a herd of Sinclair swine affected by cutaneous malignant melanoma. The herd was under partial and non-systematic selection for melanoma susceptibility (animals having at least one tumour during the first 6 weeks of life). Weighted selection differentials for the number of tumours at birth and the number of tumours at 6 weeks were generally positive and between −0.43 and 4.76 tumours for the number of tumours at 6 weeks. Estimates of the heritability for number of tumours at birth and at 6 weeks using 1934 animals were 0.27 (±0.03) and 0.25 (±0.03), respectively. The estimate of the genetic correlation between these two traits was 0.95 (±0.03). Genetic trends were positive for the number of tumours at birth and at 6 weeks. In spite of positive selection differentials and a moderate heritability, there was a negative phenotypic trend in the number of tumours. Natural selection might be acting in a direction opposite to artificial selection in the Sinclair herd. The slopes of the regression of the number of tumours at birth, at 6 weeks, and melanoma susceptibility on individual inbreeding coefficients were non-significant, indicating no evidence of dominance. The number of live-born pigs was lower in litters from parents susceptible to the disease (p < 0.01).     

The use of mathematical programming to control inbreeding in selection schemes

Selection on the best estimate of the breeding value of individuals should, in large populations, provide the maximal response in breeding value. However, many breeders deal with the selection of small numbers of animals from relatively small populations and therefore there is a trend for inbreeding to rise because of genetic drift. Moreover, as the evaluation of candidates is traditionally based on methodologies including information from relatives [selection indices, best linear unbiased predictor (BLUP)] more individuals are selected from the best families and so closely related individuals will generate most of the offspring. This effect is more important for traits with low heritability as phenotype gives little information on the breeding value of the individuals and more weight is given to relatives’ data. The need for controlling inbreeding refers not only to a better use of the genetic variability available and to a reduced inbreeding depression in the selected trait, but also to a reduced depression of fitness-related traits, which may be the most serious drawback at present due to the increase in inbreeding in domestic populations (M euwissen and W oolliams 1994). In recent years considerable work has been carried out on the design of strategies to maintain genetic diversity in selection programmes. These strategies are aimed at simultaneously optimizing genetic gain and inbreeding, either by reducing the rate of inbreeding (or variance of response) while keeping genetic gains at a predetermined level, or by increasing selection response under a restriction on inbreeding (or on variance of response). Following T oro and P& eacute ; rez -E nciso (1990) the different strategies can be classified according to the factor on which they act: (i) the selection criterion used; (ii) the mating system imposed; (iii) the number of selected individuals and their contribution to the next generation. The first group of strategies proposes the use of a suboptimal selection criterion that reduces the weight given to family information or the use of an upward-biased heritability in BLUP evaluation (T oro and P& eacute ; rez -E nciso 1990; see G rundy et al. 1998a for the latest development of this idea). The second group of strategies proposes action on the mating system including factorial mating designs, minimum co-ancestry mating (using linear programming) or compensatory mating (see review by C aballero et al. 1996). The third group of strategies includes the ones considered in the present work. The first possibility is to modify the contribution of the selected individuals of generation t to the selected individuals of generation t + 1, by practising some form of within-family selection with respect to BLUP values. Two strategies of this type were considered: modified within-family selection (MWFS) and restricted co-ancestry selection (RCS). The second possibility is to modify the contribution of the selected individuals of generation t to the evaluated individuals of generation t + 1 (instead of to the selected individuals) by a strategy called weighted selection (T oro and N ieto 1984). Three strategies were considered in this case: weighted selection (WS), restricted co-ancestry weighted selection (RCWS) and pair weighted selection (PWS). More specifically, the aim of the present paper is to show how these five strategies can be implemented using mathematical programming techniques. A small example comparing all of these strategies with standard truncation selection (TS) is also given for illustration.     

The joint regulation of genetic gain and inbreeding under mate selection

SUMMARY: Stochastic simulation was used to evaluate a range of selection strategies with respect to both additive genetic response and inbreeding. Strategies involving selection on BLUP ebvs or individual phenotype, followed by random mating, were compared with mate selection strategies which used portfolio analysis to give joint consideration to genetic merit and inbreeding. An adapted Mean Of Total Absolute Deviations (MOTAD) method was used in a mate selection model to define optimal matings with regard to aggregate genetic merit and inbreeding for a base population h(2) of 0.2. Compared with random mating following selection on BLUP ebvs, inbreeding levels after 10 years of selection were able to be reduced under BLUP plus mate selection from ～.23 to as little as .11. Additive genetic gain was either little compromised or increased. The results suggest that information linking expected levels of genetic merit and inbreeding can be used to find the preferred selection strategy. ZUSAMMENFASSUNG: Gemeinsame Kontrolle von Zuchtfortschritt und Inzucht bei Partnerselektion Es wurde stochastische Simulation zur Auswertung einer Reihe von Selektionsstrategien hinsichtlich Zuchtwertzuwachs und Inzucht verwendet. Strategien mit Selektion auf der Basis von BLUP ebvs oder individuellem Ph?notyp mit nachfolgender Zufallspaarung wurden mit Partnerselektionsstrategien verglichen, die Portfolioanalyse zur gemeinsamen Beachtung von Zuchtwert und Inzucht verwendeten. Eine Methode adaptierter MITTELWERTE TOTALER ABSOLUTER ABWEICHUNGEN (MOTAD) Methode wurde beim Partnerselektionsmodell zur Definition optimaler Paarungen in Hinblick auf Gesamtzuchtwert und Inzucht bei einer Populationsheritabilit?t von 0,2 verwendet. Verglichen mit Zufallspaarung nach Selektion auf BLUP ebvs waren die Inzuchtgrade nach 10 Selektionsjahren von 0,23 auf 0,11 reduziert und additiver Zuchtfortschritt war dabei wenig beeintr?chtigt oder nahm sogar zu. Die Ergebnisse weisen darauf hin, da? Information, die Zuchtwert und Inzucht verbindet, zur Identifikation erwünschter Selektionsstrategien führen kann.     

Heritabilities and genetic correlations of economic traits in Iranian native fowl and estimated genetic trend and inbreeding coefficients

1. Genetic parameters were estimated in a base population of a closed experimental strain of fowl. Data were obtained on 21 245 Iranian native hens (breeding centre for Fars province) subject to 8 successive generations of selection. This population had been selected for body weight at 12 weeks of age (BW12) and egg number during the first 12 weeks of the laying period (EN), mean egg weight (EW) at weeks 28, 30 and 32, and age at sexual maturity (ASM). 2. The method of multi-traits restricted maximum likelihood with an animal model was used to estimate genetic parameters. Resulting heritabilities for BW12, EN, EW and ASM were 0.68 +/- 0.02, 0.40 +/- 0.02, 0.64 +/- 0.02 and 0.49 +/- 0.02, respectively. 3. Genetic correlations between BW12 and EN, EW and ASM were 0.11 +/- 0.33, 0.54 +/- 0.21 and -0.12 +/- 0.03, respectively. Genetic correlations between EN and EW and ASM were -0.09 +/- 0.03 and -0.85 +/- 0.01, respectively, while between EW and ASM, it was 0.05 +/- 0.03. 4. The overall predicted genetic gains, after 7 generations of selection, estimated by the regression coefficients of the breeding value on generation number were equal to 22.7, 0.17, 0.04 and -1.38, for BW12, EN, EW and ASM, respectively. 5. A pedigree file of 21 245 female and male birds was used to calculate inbreeding coefficients and their influence on production and reproduction traits. Average inbreeding coefficients for all birds, inbred birds, female birds and male birds were 0.048, 0.673, 0.055 and 0.047%, respectively. Regression coefficients of BW12, ASM, EN and EW on inbreeding coefficient for all birds were equal to 0.51 +/- 0.001, 0.31 +/- 0.003, -0.51 +/- 0.003 and 0.03 +/- 0.001, respectively.     

Effective population size and inbreeding depression on litter size in rabbits. A case study

The purpose of this study is to use demographic and litter size data on four Spanish maternal lines of rabbits (A, V, H and LP), as a case study, in order to: (i) estimate the effective population size of the lines, as a measure of the rate of increase of inbreeding, and (ii) study whether the inbreeding effect on litter size traits depends on the pattern of its accumulation over time. The lines are being selected for litter size at weaning and are kept closed at the same selection nucleus under the same selection and management programme. The study considered 47 794 l and a pedigree of 14 622 animals. Some practices in mating and selection management allow an increase of the inbreeding coefficient lower than 0.01 per generation in these lines of around 25 males and 125 females. Their effective population size (Ne) was around 57.3, showing that the effect of selection, increasing the inbreeding, was counterbalanced by the management practices, intended to reduce the rate of inbreeding increase. The inbreeding of each individual was broken down into three components: old, intermediate and new inbreeding. The coefficients of regression of the old, intermediate and new inbreeding on total born (TB), number born alive (NBA) and number weaned (NW) per litter showed a decreasing trend from positive to negative values. Regression coefficients significantly different from zero were those for the old inbreeding on TB (6.79 ± 2.37) and NBA (5.92 ± 2.37). The contrast between the coefficients of regression between the old and new inbreeding were significant for the three litter size traits: 7.57 ± 1.72 for TB; 6.66 ± 1.73 for NBA and 5.13 ± 1.67 for NW. These results have been interpreted as the combined action of purging unfavourable genes and artificial selection favoured by the inbreeding throughout the generations of selection.     

Effects of models with finite loci, selection, dominance, epistasis and linkage on inbreeding coefficients based on pedigree and genotypic information

Considering the effects of selection, dominance, epistasis and linkage, a stochastic computer simulation was performed to study how well inbreeding coefficients calculated from pedigree (f_ped) and genotypic frequencies (f_het) correspond to the inbreeding coefficient that is defined as the proportion of autozygous loci in the modelled genome (i.e. the level of autozygosity, f_aut). Although in random mating populations all three inbreeding coefficients show almost (with slight deviations in models with two loci) the same expectation, they represent three separate variables. First, f_aut, f_ped and f_het responded differently to selection, dominance, epistasis and linkage. Second, they did not have the same standard deviations, which means that the effects of random drift, especially in models under selection, were not affecting all three coefficients in the same way. Finally, they were not always defined in the same domain. With selection as the most important factor responsible for the observed discrepancies, the bias (discrepancy) was present in both directions, thus leading to overestimation or underestimation of the observed level of autozygosity depending on the genetic model, linkage and initial gene frequency. Variation of the autozygosity level (between replicates) was increased notably in models with additive inheritance under selection and was an additional potential source of bias. Thus, when the trait is, to a large extent, controlled by a finite number of loci and when selection is present, the bias in the estimation of the autozygosity is likely to occur and caution is necessary whenever conclusions are based on inbreeding coefficients estimated from the pedigree or decrease in heterozygosity.     

Assessing effective population size,coancestry and inbreeding effects on litter size using the pedigree and SNP data in closed lines of the Iberian pig breed

The complete pedigree of two closed Iberian pig lines (Gamito and Torbiscal), with 798 and 4077 reproducers, has been used to measure the evolution of coancestry (f) and inbreeding (F) for autosomal and X‐linked genes along 16 and 28 respective equivalent discrete generations. At the last generation, the mean values of each line were f = 0.41 and 0.22, F = 0.35 and 0.18, f_X = 0.46 and 0.22 and F_X = 0.47 and 0.19, respectively. Other calculated parameters were the effective number of founders (final values, 6.8 and 35.2) and non‐founders (1.5 and 2.4), founder genome equivalents (1.2 and 2.3) and effective population size (16.0 and 57.7). Measures of Torbiscal effective size based on rates of coancestry (66.1), inbreeding (65.0) and linkage disequilibrium (71.0) were estimated from whole‐genome SNP genotyping data. Values of new and old inbreeding and their respective rates by generation were computed to detect purging effects of natural selection. The analysis of 6854 Torbiscal litters showed significant negative impacts of new and fast inbreeding on litter size, as expected from the purging hypothesis: ?0.20 born piglets per litter by a 10% of new inbreeding, and ?0.03 and ?0.02 piglets by 1% of total and new inbreeding rates, respectively. The analysis performed on 1274 litters of the Gamito line failed to show purging effects. The only significant results were reductions in ?0.91 and ?0.17 piglets by a 10% of old and X‐linked genes inbreeding, respectively. These results may be useful for some practical issues in conservation programs of farm or captive wild animals.     

闭锁群体BLUP选择下遗传方差和近交系数的变化

采用计算机随机模拟方法模拟了在一个闭锁群体内连续对单个性状进行 1 5个世代选择的情况。选择过程中世代不重叠 ,每个世代的种畜根据动物模型最佳线性无偏预测 (BLUP)法估计的育种值进行选留 ,并在此基础上系统地比较了不同群体规模、公母比例和性状遗传力对群体遗传方差和近交系数变化的影响。结果表明 ,扩大育种群规模、增加公畜比例以及对低遗传力性状进行选择时 ,群体遗传方差降低的速度和近交系数上升的速度会更慢 ,在长期选择时可望获得更大的持续进展和适宜的近交增量