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.     

Variance of actual inbreeding derived from the number and variance of chromosome segment

The inbreeding coefficient (F) is used as a central parameter inferring a proportion of alleles identical by descent within an individual and by genetic variability within a population. The actual inbreeding coefficient varies around a central value, the inbreeding coefficient. C ockerham and W eir (1983) derived the method for computing the variance of inbreeding while reviewing several other methods. The variance of inbreeding in their report was considered to be of two components: one within population and the other between population of varied pedigrees. If pedigree is fixed, F is easily computed for an individual by the standard method (F alconer 1989). For domestic animals, pedigree information is usually available because it is requisite for a programme of genetic improvement. In this study, the variance of inbreeding coefficient was derived for an individual with a pedigree having a single path to a foundation animal.     

Pedigree structure and genetic variation in the two endangered Norwegian horse breeds: D⊘le and Nordland/Lyngen

Abstract

To examine the genetic variation in two endangered Norwegian horse breeds, the pedigree structures were investigated, and key parameters such as inbreeding coefficients, effective population size, effective number of founders, effective number of ancestors and effective number of founder genomes were calculated. The data consisted of 31,142 individuals of the D?le horse and 1973 individuals of the Nordland/Lyngen horse, for which the complete generation equivalent was 10.5 and 7.2, respectively. In both breeds, the pedigree data were more than 98.5% complete in the fourth generation, allowing the rate of inbreeding and the effective population size to be precisely estimated, actually measuring the fractional loss of heterozygosity, comparable across generations (not so for the other measures). The level of inbreeding was about 12% in both breeds, with a rather wavy pattern during the past 50 years in the D?le. Considering the last generations only, the effective population size was found to be 152 in the D?le and 42 in the Nordland/Lyngen. For both populations selection in the future should be based on optimal contribution.     

Improving the estimation of realized effective population sizes in farm animals

Computation of inbreeding rate (Δ F ) must consider that inbreeding is delayed with one generation with respect to the idealized population when addressed using individual inbreeding coefficients. The expression relating inbreeding in generation t with inbreeding rate F _t  = 1 – (1– ΔF ) ^t should be more correctly written in real animal populations as F _t  = 1 – (1– ΔF ) ^{t −1}, as changes in allele frequencies occur in the equivalent co-ancestries in the previous generation. This simple approach is tested on simulated and real pedigrees thus demonstrating that: (i) the adjusted individual increase in inbreeding becomes stable in populations under random mating while the unadjusted parameter does not; (ii) regression of the unadjusted parameter over generations in pedigrees under random mating is highly significant while after correction it is not significant; and (iii) the variance of the adjusted parameter is reduced with the generations.     

Analysis of the population structure of the South German coldblood in Bavaria, Germany

Gene contributions of foreign populations as well as coefficients of inbreeding and relationship were calculated in 1918 South German Coldblood horses registered in Bavaria in 2003. Based on nearly complete 8-generation-pedigrees (index of pedigree completeness: 76%) the mean coefficient of inbreeding was 23%. After considering missing pedigree data, the mean coefficient of inbreeding was 3%. The rates of inbreeding per generation in the current population amount to about 0.43% over the last eight generations and to about 0.15% in the forthcoming generation. In the total current population, the mean degree of relationship was 6%. The proportion of purebred South German Coldblood horses in the current population is about 43%. As the Noric horse is of same origin as the South German Coldblood, these two breeds can be considered as an entity and thus the proportion of purebred genes in the current Bavarian South German Coldblood population reaches more than 93%. The Suffolk Punch and Thoroughbred Horse were the most important contributors to the current South German Coldblood population, whereas the Rhenish-German and Black Forest Draught Horse as well as the Percheron had neglectable influences. The effective population size in the current Bavarian South German Coldblood population is Ne = 332.     

Analysis of the current population of the Hanoveranian Scenthound bred in the kennel club Hirschmann e. V

The Hanoveranian Scenthound is a purebred hound with a long breeding history and an exceptional high hunting performance. The kennel club Hirschmann e. V. has the goal to conserve the very high level of performance in the small population of the Hanoveranian Scenthound. Therefore, the structure of the current population was analyzed by estimating the gene contributions of the founder breeds of other European kennel clubs, coefficients of relationships, rates of inbreeding and coefficients of inbreeding. All current dogs (n = 334) were included in this study. The pedigrees had a degree completeness of 73.3% for 10 generations. The large influence of the Hanoveranian Scenthound bred in the Austrian kennel club was obvious. The gene contribution of these dog population was with 46.5% much more higher than the gene contribution from the German population with 29.8%. The gene contribution of Czech, Swiss and Hungarian dogs was between 4.3% and 7.6%. The mean coefficient of inbreeding of the current German population was 9.2% with the maximum at 15.6%. For the last 10 generations the increase of the coefficient of inbreeding per generation was 0.71%, regarding the degree of completeness of the pedigrees the coefficient of inbreeding per generation increased by 0.96%. For the last generation the rate of inbreeding amounted to 0.09%. The rate of inbreeding expected for the next generation is 0.02%. Also the effective population size (N(e)) in the current population of the Hanoveranian Scenthound being 70.9 exceeds the critical value of N(e) = 50. The mean coefficient of relationship in the current population was 11.2% with the maximum at 73.6%. The present incrossing of Hanoveranian Scenthounds from other European countries reduced the coefficient of inbreeding.     

Usefulness of molecular-based methods for estimating effective population size in livestock assessed using data from the endangered black-coated Asturcón pony

Empirical evidence of the usefulness of different molecular-based methods to estimate the effective population size (N(e)) for conservation purposes in endangered livestock populations is reported. The black-coated Asturcón pony pedigree (1,981 individuals) was available. Additionally, a total of 267 Asturcón individuals born in 1998, 2002, and 2008 were typed for 15 microsatellites. These yearly cohorts (cohort(1998, 2002, 2008)) included almost all individuals kept for reproduction at the end of the corresponding foaling season. The genealogical realized N(e) was estimated for each cohort by using the individual increase in inbreeding. Molecular N(e) was computed by using 1) linkage disequilibrium [N(e)(()(D)())], 2) a temporal method based on F-statistics [N(e)(()(T)())], 3) an unbiased temporal method [N(e)(()(JR)())], and 4) a Bayesian temporal method [N(e)(()(B)())]. Estimates of increased from cohort(1998) (18.8 ± 5.1) to cohort(2008) (24.9 ± 5.2), illustrating the history of the population and its breeding policy of avoiding matings between close relatives. The estimates of N(e)(()(D)()) were highly biased upward, with the maximum N(e)(()(D)()) value obtained for cohort(2002) (137.0). The estimates of N(e)(()(T)()), N(e)(()(JR)()), and N(e)(()(B)()) showed similar performance. However, N(e)(()(JR)()) estimates were very consistent across cohorts, varying from 14.9 to 15.5 after correcting for the effect of overlapping generations. When the drift signal was not strong (pair cohort(1998)-cohort(2002)), estimates of N(e)(()(T)()) and N(e)(()(B)()) were not realistic. Estimates of N(e)(()(B)()) tended to be biased downward (being 9.0 or below for the sampling pairs including cohort(2008)). Results of N(e)(()(D)()) are more likely to be estimates of the effective number of breeders producing the sample, rather than the effective size for a generation. The temporal methods were strongly affected by a weak drift signal, particularly when samplings were not spaced a sufficient number of generations or a sufficient time apart. The use of molecular-based estimates of N(e) is not straightforward, and their use in livestock conservation programs should be carried out with caution. Sampling strategies (including sampling sizes, sampling periods, and the age structure of the sampled individuals) must be carefully planned to ensure that robust estimates of N(e) are obtained.     

Genealogical analyses in open populations: the case of three Arab-derived Spanish horse breeds

This research assesses the genetic composition of three Arab-derived Spanish horse breeds as an example to highlight the major shortcomings related to genealogical analyses in open populations and to propose approaches useful to deal with this task. The studbooks of three Spanish Arab (SA)-derived horse breeds, Spanish Anglo-Arab (dAA), Hispano-Arab (dHA) and Spanish Sport Horse (dSSH) and those of their parental breeds SA, Spanish Purebred (SPB) and Thoroughbred (TB), totalling 211 754 individuals, were available. The genealogies of the dAA, dHA and dSSH were analysed not only using the corresponding studbook (breed exclusive dataset) but also including the genealogies of the founders from parental breeds (completed dataset). Coancestry analyses revealed that the present SA-derived populations share more genes with the Arab than with the other parental breeds. Effective population size was computed by accounting for migration rates to obtain an equivalent closed-population effective size (_eq N _e) of 39.2 for the dAA, 56.3 for dHA and 114.1 for dSSH. The essayed methodologies were useful for characterising populations involving migration. The consequences of the management of the analysed breeds are discussed. The results emphasize the need to include the complete genealogies of the individuals to attain reliable genealogical parameters.     

Effects of incomplete pedigree on genetic management of the Dutch Landrace goat

Genetic diversity in the Dutch Landrace goat was investigated based on information from the pedigree with about 6500 animals. Annual inbreeding rate after 1985 was below 0.5% and after 1987 close to 0%. However, pedigree information was incomplete, and 350 animals had unknown parents, while for the majority the real parents must have been in the pedigree. To determine the influence of unknown parents, 20 new pedigrees were created by random assignment of animals, alive at the time of birth, as parents to individuals with unknown parents. Only 12 founders remained for these pedigrees, and inbreeding levels varied considerably between these 20 pedigrees. However, inbreeding rates were remarkably constant. They increased to about 0.2%, indicating that the population is not endangered by inbreeding. The optimal contribution theory was used to evaluate possibilities of decreasing the average relationship in the population and thus to increase the genetic diversity of the breed. Optimal contribution decreased the average relationship in the population whether randomly assigned parents were used or not. However, individuals selected as parents for the resampled pedigrees differed from the original pedigree, and only a few animals were selected for all pedigrees. Candidates for inclusion in the genebank were also selected using optimal contribution. Adding animals to the genebank increased the conserved genetic diversity substantially, but as the lists differed between the analysed pedigrees it was not clear which animals were best added to the genebank.     

Population structure and genetic variability in the Murrah dairy breed of water buffalo in Brazil accessed via pedigree analysis

The objective of this study was to use pedigree analysis to evaluate the population structure and genetic variability in the Murrah dairy breed of water buffalo (Bubalus bubalis) in Brazil. Pedigree analysis was performed on 5,061 animals born between 1972 and 2002. The effective number of founders (fe) was 60, representing 6.32?% of the potential number of founders. The effective number of ancestors (fa) was 36 and the genetic contribution of the 17 most influent ancestors explained 50?% of the genetic variability in the population. The ratio fe/fa (effective number of founders/effective number of ancestors), which expresses the effect of population bottlenecks, was 1.66. Completeness level for the whole pedigree was 76.8, 49.2, 27.7, and 12.8?% for, respectively, the first, second, third, and fourth known parental generations. The average inbreeding values for the whole analyzed pedigree and for inbreed animals were, respectively, 1.28 and 7.64?%. The average relatedness coefficient between individuals of the population was estimated to be 2.05?%??the highest individual coefficient was 10.31?%. The actual inbreeding and average relatedness coefficient are probably higher than estimated due to low levels of pedigree completeness. Moreover, the inbreeding coefficient increased with the addition of each generation to the pedigree, indicating that incomplete pedigrees tend to underestimate the level of inbreeding. Introduction of new sires with the lowest possible average relatedness coefficient and the use of appropriate mating strategies are recommended to keep inbreeding at acceptable levels and increase the genetic variability in this economically important species, which has relatively low numbers compared to other commercial cattle breeds. The inclusion of additional parameters, such as effective number of founders, effective number of ancestors, and fe/fa ratio, provides better resolution as compared to the inclusion of inbreeding coefficient and may help breeders and farmers adopt better precautionary measures against inbreeding depression and other deleterious genetic effects.     

Population structure of Reyna Creole cattle in Nicaragua

Reyna Creole cattle originated from Bos taurus cattle brought to Latin America during the Spanish colonization in the fifteenth century and are the only remaining local breed in Nicaragua. However, the current genetic status of this breed is unknown. Therefore, the population structure of three recorded Reyna Creole herds in Nicaragua was studied to estimate their level of inbreeding, effective population size, and generation intervals. Data from 2,609 animals born between 1958 and 2007 were analyzed. A pedigree completeness index higher than 0.8 was required to obtain reliable estimates of the level of inbreeding, and this criterion was met for 367 animals (14%) in two herds. The average level of inbreeding was 13.0%, with values ranging from 0% to 43.8% for individual animals. One of the herds had an average inbreeding level of 21.6%, primarily due to long periods in which the same bulls were used for mating, leading to excessive frequencies of matings between closely related animals. The effective population size differed between years and ranged from 28 to 46 animals, showing that the Reyna Creole cattle breed is endangered, close to critical status. The average generation interval was 6.9 years with values as high as 19.1 years for some sires that were used for artificial insemination over a long period of time. Due to the high level of inbreeding and small population size, urgent actions are required for the development of a breeding program to protect the breed and support its sustainable utilization.     

MIM: an indirect method to assess inbreeding and coancestry in large incomplete pedigrees of selected dairy cattle

In real data, inbreeding is usually underestimated because of missing pedigree information. A method adapted to the dairy cattle situation is presented to approximate inbreeding when the stored population pedigree is incomplete. Missing parents in incomplete pedigrees were given a dummy identification and assigned to groups (up to nine for a given birth date of progeny). These groups were linked to contemporary reference groups with known parents. An explicit model considered that polygenic breeding values in a censored group were centred on a function of the average breeding value in the corresponding reference group and deviated independently. Inbreeding coefficients were obtained progressively over birth dates starting from founders. For each date considered, the parameters pertaining to its groups were computed using the parameters already obtained from groups belonging to the previous dates. The updating algorithms were given in detail. An indirect method was implemented to expedite mass computations of the relationship coefficients involved (MIM). MIM was compared to Van Raden's (VR) method using simulated populations with 20 overlapping generations and different rates of missing sires and dams. In the situation of random matings, the average inbreeding coefficients by date obtained by MIM were close to true values, whereas they were strongly underestimated by VR. In the situation of assortative matings, MIM gave average inbreeding coefficients moderately underestimated, whereas those of VR's method were still strongly underestimated. The main conclusion of this study adapted to the situation of dairy cattle with incomplete pedigrees was that corrections for inbreeding and coancestry coefficients are more efficient with an explicit appropriate genetic model than without.     

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.     

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.     

Estimation of effective population size from the rate of coancestry in pedigreed populations

We introduce a simple method to estimate effective population size from increase in coancestry (Δc(jk)) for all pairs of individuals j and k in a reference subpopulation. An increase in pairwise coancestry for any pair of individuals j and k can be defined assuming that a hypothetical mating between them would give an individual with an inbreeding coefficient equal to c(jk), where c(jk) is the coancestry coefficient between the individuals j and k. The equivalent measure to discrete generations value (g(jk)) corresponding to the individual jk can be computed by averaging discrete equivalents generations of its parents (g(j) and g(k)). The mean increase in coancestry for all pairs of individuals in a reference subpopulation can be used to estimate a realized effective population size based on coancestries that would provide information on the effective size of a population under random mating. Performance of the new parameter was tested on simulated and empirical (horse) populations with different mating strategies and population structures. The routines needed to compute the introduced parameters have been included in a new version of the program ENDOG.     

Assessment of inbreeding depression for body measurements in Spanish Purebred (Andalusian) horses

Our aim was to ascertain inbreeding depression in the Spanish Purebred horses for eight body measurements. A total of 16,472 individuals were measured for height at withers, height at chest, leg length, body length, width of chest, heart girth circumference, knee perimeter and cannon bone circumference. Three different multivariate animal models including, respectively, no measure of inbreeding, individual inbreeding coefficients (F_i) or individual increase in inbreeding coefficients (ΔF_i) as linear covariates were used. Significant inbreeding depression was assessed. Even though the models including measures of inbreeding fitted better with data, no effect on estimates of genetic parameters was assessed. However, the inclusion of inbreeding measures affected the ranking order according to the Expected Breeding Values (EBV). Due to the better fit with data and nice properties (the adjustment of individual inbreeding coefficients with the pedigree depth and linear behaviour) the use of ΔF_i in the evaluation models can be recommended for morphological traits in horses.     

Genetic variability in Colombian Creole cattle populations estimated by pedigree information

The genetic structure of 4 Colombian Creole cattle breeds, namely, Coste?o con Cuernos, Blanco Orejinegro (BON), Romosinuano (ROMO), and Sanmartinero (SM), was studied with an analysis of the available pedigree data. The comparison between the effective number of founders (f(e)) and the effective number of ancestors (f(a)) revealed a decrease in the genetic variation that was rather important for the ROMO and San Martinero breeds, which had the lowest f(a)/f(e) ratios (0.34 and 0.53, respectively). All breeds showed similar values for the number of equivalent generations traced, ranging from 3.1 in BON to 4.8 in ROMO. These 2 populations also had the lowest and the highest population sizes, respectively. The lowest average inbreeding coefficient considering the whole pedigree was obtained by BON (0.18%), whereas the highest was attained by ROMO (1.22%). Finally, the percentage of individuals with an inbreeding level greater than 6.25% in the reference population was high, indicating that the existing conservation management strategies could be improved to successfully maintain the genetic variability of these populations.     

Population structure of Mazandaran native fowls using pedigree analysis

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.     

Founder and present maternal diversity in two endangered Spanish horse breeds assessed via pedigree and mitochondrial DNA information

Pedigree information and 179 mtDNA sequences from two endangered Spanish horse breeds, the Asturcón pony (143) and the Mallorquí horse (36), were analysed to asses: (i) the pedigree and molecular maternal genetic diversity of the two breeds; (ii) the concordance between the dam lines recorded in the corresponding studbooks and the mtDNA haplotypes identified; and (iii) to assess the losses of maternal genetic variability occurred from the foundation of the studbooks to present. Up to 50 Asturcón and 18 Mallorquí founder dam lines were identified in the studbooks analysed. Up to 315 Asturcón mares and 51 Mallorquí mares that foaled in the last 5 years of recording formed a reference population. Only 35 Asturcón and 13 Mallorquí founder dam lines were represented in their reference populations. Sequences from a total of 38 Asturcón and 12 Mallorquí dam lines could be obtained. The 179 sequences obtained gave 15 different haplotypes, 11 and 9 of them being identified, respectively, in the Asturcón pony and in the Mallorquí horse. Five different haplotypes (roughly two-thirds of the sequences) were shared by the two horse breeds. Most dam lines analysed had a single mtDNA haplotype. However, more than one haplotype was detected within eight of the dam lines in Asturcón pony. The found inconsistencies are likely to result from deficiencies in genebank management. The maternal N(e) (mN(e)) computed using the dam line information was higher in the Asturcón pony (20.5) than in the Mallorquí horse (15.9), while these figures were on the opposite direction for the haplotypic line information (6.4 and 9.4, respectively). The ratio of the computed mN(e) values to the actual number of founder dam lines were always higher in the Mallorquí horse probably due to a more balanced distribution of individuals kept for reproduction among studs. Consequences for the conservation programmes of the analysed breeds are discussed.     

Differences between genomic‐based and pedigree‐based relationships in a chicken population,as a function of quality control and pedigree links among individuals

This work studied differences between expected (calculated from pedigree) and realized (genomic, from markers) relationships in a real population, the influence of quality control on these differences, and their fit to current theory. Data included 4940 pure line chickens across five generations genotyped for 57 636 SNP. Pedigrees (5762 animals) were available for the five generations, pedigree starting on the first one. Three levels of quality control were used. With no quality control, mean difference between realized and expected relationships for different type of relationships was ≤ 0.04 with standard deviation ≤ 0.10. With strong quality control (call rate ≥ 0.9, parent‐progeny conflicts, minor allele frequency and use of only autosomal chromosomes), these numbers reduced to ≤ 0.02 and ≤ 0.04, respectively. While the maximum difference was 1.02 with the complete data, it was only 0.18 with the latest three generations of genotypes (but including all pedigrees). Variation of expected minus realized relationships agreed with theoretical developments and suggests an effective number of loci of 70 for this population. When the pedigree is complete and as deep as the genotypes, the standard deviation of difference between the expected and realized relationships is around 0.04, all categories confounded. Standard deviation of differences larger than 0.10 suggests bad quality control, mistakes in pedigree recording or genotype labelling, or insufficient depth of pedigree.