Jesús Fernández

Detection of growth-related QTL in turbot (Scophthalmus maximus)

BackgroundThe turbot (Scophthalmus maximus) is a highly appreciated European aquaculture species. Growth related traits constitute the main goal of the ongoing genetic breeding programs of this species. The recent construction of a consensus linkage map in this species has allowed the selection of a panel of 100 homogeneously distributed markers covering the 26 linkage groups (LG) suitable for QTL search. In this study we addressed the detection of QTL with effect on body weight, length and Fultons condition factor.ResultsEight families from two genetic breeding programs comprising 814 individuals were used to search for growth related QTL using the panel of microsatellites available for QTL screening. Two different approaches, maximum likelihood and regression interval mapping, were used in order to search for QTL. Up to eleven significant QTL were detected with both methods in at least one family: four for weight on LGs 5, 14, 15 and 16; five for length on LGs 5, 6, 12, 14 and 15; and two for Fultons condition factor on LGs 3 and 16. In these LGs an association analysis was performed to ascertain the microsatellite marker with the highest apparent effect on the trait, in order to test the possibility of using them for marker assisted selection.ConclusionsThe use of regression interval mapping and maximum likelihood methods for QTL detection provided consistent results in many cases, although the high variation observed for traits mean among families made it difficult to evaluate QTL effects. Finer mapping of detected QTL, looking for tightly linked markers to the causative mutation, and comparative genomics are suggested to deepen in the analysis of QTL in turbot so they can be applied in marker assisted selection programs.

Management of Subdivided Populations in Conservation Programs: Development of a Novel Dynamic System

Within the context of a conservation program the management of subdivided populations implies a compromise between the control of the global genetic diversity, the avoidance of high inbreeding levels, and, sometimes, the maintenance of a certain degree of differentiation between subpopulations. We present a dynamic and flexible methodology, based on genealogical information, for the maximization of the genetic diversity (measured through the global population coancestry) in captive subdivided populations while controlling/restricting the levels of inbreeding. The method is able to implement specific restrictions on the desired relative levels of coancestry between and within subpopulations. By accounting for the particular genetic population structure, the method determines the optimal contributions (i.e., number of offspring) of each individual, the number of migrants, and the particular subpopulations involved in the exchange of individuals. Computer simulations are used to illustrate the procedure and its performance in a range of reasonable scenarios. The method performs well in most situations and is shown to be more efficient than the commonly accepted one-migrant-per-generation strategy.

Management of genetic diversity of subdivided populations in conservation programmes

Population subdivision must be explicitly considered in the management of conservation programmes, as most populations of wild species at risk of extinction and those kept in captivity are spatially structured. The partition of gene and allelic diversity in within- and between-subpopulation components allows for the integral management of populations. We summarise the main aspects of this partition and some of its applications in terms of priorisation of populations for conservation and establishment of synthetic populations. The procedures for the maintenance of diversity in subdivided populations making use of molecular markers and its implementation by the software METAPOP are illustrated with empirical data.

Preserving Population Allele Frequencies in Ex Situ Conservation Programs

Optimization of contributions of parents to progeny by minimizing the average coancestry of the progeny is an effective strategy for maintaining genetic diversity in ex situ conservation programs, but its application on the basis of molecular markers has the negative collateral effect of homogenizing the allelic frequencies at each locus. Because one of the objectives of a conservation program is to preserve the genetic composition of the original endangered population, we devised a method in which markers are used to maintain the allele frequency distribution at each locus as closely as possible to that of the native population. Contributions of parents were obtained so as to minimize changes in allele frequency for a set of molecular markers in a population of reduced size. We used computer simulations, under a range of scenarios, to assess the effectiveness of the method in comparison with methods in which contributions of minimum coancestry are sought, either making use of molecular markers or genealogical information. Our simulations indicated that the proposed method effectively maintained the original distribution of allele frequencies, particularly under strong linkage, and maintained acceptable levels of genetic diversity in the population. Nevertheless, contributions of minimum coancestry determined from pedigree information but ignoring the genealogy previous to the conservation program, was the most effective method for maintaining allelic frequencies in realistic situations.

Accumulation of deleterious mutations and equalization of parental contributions in the conservation of genetic resources

Typical management strategies for the conservation of endangered species in captivity, such as equalization of family sizes, deal with the need for maintaining genetic variability and low levels of inbreeding, and for preventing the population from adapting to captivity. But they also produce a reduction in the intensity of natural selection, so that deleterious mutations can accumulate more easily in small populations. We have carried out computer simulations to investigate the effect of equalizing contributions on the accumulation of deleterious mutations. The models include effects on fecundity and viability, and account for different sets of mutational parameters and reproductive rates. The effect of relaxation of selection under captive conditions was also investigated. Our results suggest that equalization of family sizes does not produce a particularly high threat to small conserved populations, at least in the short term (up to about 20 generations), and the more efficient preservation of genetic variability seems to be a clear advantage of the procedure.

Mutation-selection balance accounting for genetic variation for viability in Drosophila melanogaster as deduced from an inbreeding and artificial selection experiment.

We carried out an experiment of inbreeding and upward artificial selection for egg‐to‐adult viability in a recently captured population of Drosophila melanogaster, as well as computer simulations of the experimental design, in order to obtain information on the nature of genetic variation for this important fitness component. The inbreeding depression was linear with a rate of 0.70 ± 0.11% of the initial mean per 1% increase in inbreeding coefficient, and the realized heritability was 0.06 ± 0.07. We compared the empirical observations of inbreeding depression and selection response with computer simulations assuming a balance between the occurrence of partially recessive deleterious mutations and their elimination by selection. Our results suggest that a model assuming mutation‐selection balance with realistic mutational parameters can explain the genetic variation for viability in the natural population studied. Several mutational models are incompatible with some observations and can be discarded. Mutational models assuming a low rate of mutations of large average effect and highly recessive gene action, and others assuming a high rate of mutations of small average effect and close to additive gene action, are compatible with all the observations.

Removing exogenous information using pedigree data

Management of certain populations requires the preservation of its pure genetic background. When, for different reasons, undesired alleles are introduced, the original genetic conformation must be recovered. The present study tested, through computer simulations, the power of recovery (the ability for removing the foreign information) from genealogical data. Simulated scenarios comprised different numbers of exogenous individuals taking part of the founder population and different numbers of unmanaged generations before the removal program started. Strategies were based on variables arising from classical pedigree analyses such as founders’ contribution and partial coancestry. The efficiency of the different strategies was measured as the proportion of native genetic information remaining in the population. Consequences on the inbreeding and coancestry levels of the population were also evaluated. Minimisation of the exogenous founders’ contributions was the most powerful method, removing the largest amount of genetic information in just one generation. However, as a side effect, it led to the highest values of inbreeding. Scenarios with a large amount of initial exogenous alleles (i.e. high percentage of non native founders), or many generations of mixing became very difficult to recover, pointing out the importance of being careful about introgression events in populations where these are undesired.

Assessing population genetic structure via the maximisation of genetic distance

BackgroundThe inference of the hidden structure of a population is an essential issue in population genetics. Recently, several methods have been proposed to infer population structure in population genetics.MethodsIn this study, a new method to infer the number of clusters and to assign individuals to the inferred populations is proposed. This approach does not make any assumption on Hardy-Weinberg and linkage equilibrium. The implemented criterion is the maximisation (via a simulated annealing algorithm) of the averaged genetic distance between a predefined number of clusters. The performance of this method is compared with two Bayesian approaches: STRUCTURE and BAPS, using simulated data and also a real human data set.ResultsThe simulations show that with a reduced number of markers, BAPS overestimates the number of clusters and presents a reduced proportion of correct groupings. The accuracy of the new method is approximately the same as for STRUCTURE. Also, in Hardy-Weinberg and linkage disequilibrium cases, BAPS performs incorrectly. In these situations, STRUCTURE and the new method show an equivalent behaviour with respect to the number of inferred clusters, although the proportion of correct groupings is slightly better with the new method. Re-establishing equilibrium with the randomisation procedures improves the precision of the Bayesian approaches. All methods have a good precision for FST≥ 0.03, but only STRUCTURE estimates the correct number of clusters for FSTas low as 0.01. In situations with a high number of clusters or a more complex population structure, MGD performs better than STRUCTURE and BAPS. The results for a human data set analysed with the new method are congruent with the geographical regions previously found.ConclusionThis new method used to infer the hidden structure in a population, based on the maximisation of the genetic distance and not taking into consideration any assumption about Hardy-Weinberg and linkage equilibrium, performs well under different simulated scenarios and with real data. Therefore, it could be a useful tool to determine genetically homogeneous groups, especially in those situations where the number of clusters is high, with complex population structure and where Hardy-Weinberg and/or linkage equilibrium are present.

The accuracy of a heritability estimator using molecular information

The heritability of a quantitative trait is a key parameter to quantify the genetic variation present in a population. Although estimates of heritability require accurate information on the genetic relationship among individuals, pedigree data is generally lacking in natural populations. Nowadays, the increasing availability of DNA markers is making possible the estimation of coancestries from neutral molecular information. In 1996, K. Ritland developed an approach to estimate heritability from the regression of the phenotypic similarity on the marker-based coancestry. We carried out simulations to analyze the accuracy of the estimates of heritability obtained by this method using information from a variable number of neutral codominant markers. Because the main application of the estimator is on populations with no family structure, such as natural populations, its accuracy was tested under this scenario. However, the method was also investigated under other scenarios, in order to test the influence of different factors (family structure, assortative mating and phenotypic selection) on the precision. Our results suggest that the main factor causing a directional bias in the estimated heritability is the presence of phenotypic selection, and that very noisy estimates are obtained in the absence of a familiar structure and for small population sizes. The estimated heritabilities from marker-based coancestries showed lower accuracy than the estimated heritabilities from genealogical coancestries. However, a large amount of bias occurred even in the most favourable situation where genealogical coancestries are known. The results also indicate that the molecular markers are more suitable to infer coancestry than inbreeding.

Advantages of using molecular coancestry in the removal of introgressed genetic material.

BackgroundWhen introgression of undesired exogenous genetic material occurs in a population intended to remain pure, actions are necessary to recover the original background. It has been shown that genome-wide information can replace pedigree information for different objectives and is a valuable tool in the fields of genetic conservation and breeding. In this simulation study, molecular information provided by 50 000 SNP was used to minimise the molecular coancestry between individuals of an admixed population and the foreign individuals that originally introgressed a native population in order to remove the exogenous DNA.ResultsThis management method, which detects the ‘purest’ individuals to be used as parents for the next generation, allowed recovery of the native genetic background to a great extent in all simulated scenarios. However, it also caused an increase in inbreeding larger than expected because of the lower number of individuals selected as parents and the higher coancestry between them. In scenarios involving several introgression events the method was more efficient than in those involving a single introgression event because part of the genetic information was mixed with the native genetic material for a shorter period.ConclusionsGenome-wide information can be used to identify the purest individuals via the minimisation of molecular coancestry between individuals of the admixed and exogenous populations. Removal of the undesired genetic material is more efficient with a molecular-based approach than with a pedigree-based approach.