Identification of unique ROH regions with unfavorable effects on production and fertility traits in Canadian Holsteins.

BACKGROUND: The advent of genomic information and the reduction in the cost of genotyping have led to the use of genomic information to estimate genomic inbreeding as an alternative to pedigree inbreeding. Using genomic measures, effects of genomic inbreeding on production and fertility traits have been observed. However, there have been limited studies on the specific genomic regions causing the observed negative association with the trait of interest. Our aim was to identify unique run of homozygosity (ROH) genotypes present within a given genomic window that display negative associations with production and fertility traits and to quantify the effects of these identified ROH genotypes. METHODS: In total, 50,575 genotypes based on a 50K single nucleotide polymorphism (SNP) array and 259,871 pedigree records were available. Of these 50,575 genotypes, 46,430 cows with phenotypic records for production and fertility traits and having a first calving date between 2008 and 2018 were available. Unique ROH genotypes identified using a sliding-window approach were fitted into an animal mixed model as fixed effects to determine their effect on production and fertility traits. RESULTS: In total, 133 and 34 unique ROH genotypes with unfavorable effects were identified for production and fertility traits, respectively, at a 1% genome-wise false discovery rate. Most of these ROH regions were located on bovine chromosomes 8, 13, 14 and 19 for both production and fertility traits. For production traits, the average of all the unfavorably identified unique ROH genotypes effects were estimated to decrease milk yield by 247.30 kg, fat yield by 11.46 kg and protein yield by 8.11 kg. Similarly, for fertility traits, an average 4.81-day extension in first service to conception, a 0.16 increase in number of services, and a - 0.07 incidence in 56-day non-return rate were observed. Furthermore, a ROH region located on bovine chromosome 19 was identified that, when homozygous, had a negative effect on production traits. Signatures of selection proximate to this region have implicated GH1 as a potential candidate gene, which encodes the growth hormone that binds the growth hormone receptor. This observed negative effect could be a consequence of unfavorable alleles in linkage disequilibrium with favorable alleles. CONCLUSIONS: ROH genotypes with unfavorable effects on production and fertility traits were identified within and across multiple traits on most chromosomes. These identified ROH genotypes could be included in mate selection programs to minimize their frequency in future generations.

Effect of recent and ancient inbreeding on production and fertility traits in Canadian Holsteins.

BACKGROUND: Phenotypic performances of livestock animals decline with increasing levels of inbreeding, however, the noticeable decline known as inbreeding depression, may not be due only to the total level of inbreeding, but rather could be distinctly associated with more recent or more ancient inbreeding. Therefore, splitting inbreeding into different age classes could help in assessing detrimental effects of different ages of inbreeding. Hence, this study sought to investigate the effect of recent and ancient inbreeding on production and fertility traits in Canadian Holstein cattle with both pedigree and genomic records. Furthermore, inbreeding coefficients were estimated using traditional pedigree measure (FPED) and genomic measures using segment based (FROH) and marker-by-marker (FGRM) based approaches. RESULTS: Inbreeding depression was found for all production and most fertility traits, for example, every 1% increase in FPED, FROH and FGRM was observed to cause a - 44.71, - 40.48 and - 48.72 kg reduction in 305-day milk yield (MY), respectively. Similarly, an extension in first service to conception (FSTC) of 0.29, 0.24 and 0.31 day in heifers was found for every 1% increase in FPED, FROH and FGRM, respectively. Fertility traits that did not show significant depression were observed to move in an unfavorable direction over time. Splitting both pedigree and genomic inbreeding into age classes resulted in recent age classes showing more detrimental inbreeding effects, while more distant age classes caused more favorable effects. For example, a - 1.56 kg loss in 305-day protein yield (PY) was observed for every 1% increase in the most recent pedigree age class, whereas a 1.33 kg gain was found per 1% increase in the most distant pedigree age class. CONCLUSIONS: Inbreeding depression was observed for production and fertility traits. In general, recent inbreeding had unfavorable effects, while ancestral inbreeding had favorable effects. Given that more negative effects were estimated from recent inbreeding when compared to ancient inbreeding suggests that recent inbreeding should be the primary focus of selection programs. Also, further work to identify specific recent homozygous regions negatively associated with phenotypic traits could be investigated.

Effect of genomic selection on rate of inbreeding and coancestry and effective population size of Holstein and Jersey cattle populations.

Genetic diversity in livestock populations is a significant contributor to the sustainability of animal production. Also, genetic diversity allows animal production to become more responsive to environmental changes and market demands. The loss of genetic diversity can result in a plateau in production and may also result in loss of fitness or viability in animal production. In this study, we investigated the rate of inbreeding (ΔF), rate of coancestry (Δf), and effective population size (Ne) as important quantitative indicators of genetic diversity and evaluated the effect of the recent implementation of genomic selection on the loss of genetic diversity in North American Holstein and Jersey dairy cattle. To estimate the rate of inbreeding and coancestry, inbreeding and coancestry coefficients were calculated using the traditional pedigree method and genomic methods estimated from segment- and marker-based approaches. Furthermore, we estimated Ne from the rate of inbreeding and coancestry and extent of linkage disequilibrium. A total of 205,755 and 89,238 pedigreed and genotyped animals born between 1990 and 2018 inclusively were available for Holsteins and Jerseys, respectively. The estimated average pedigree inbreeding coefficients were 7.74 and 7.20% for Holsteins and Jerseys, respectively. The corresponding values for the segment and marker-by-marker genomic inbreeding coefficients were 13.61, 15.64, and 31.40% for Holsteins and 21.16, 22.54, and 42.62% for Jerseys, respectively. The average coancestry coefficients were 8.33 and 15.84% for Holsteins and 9.23 and 23.46% for Jerseys with pedigree and genomic measures, respectively. Generation interval for the whole 29-yr time period averaged approximately 5 yr for all selection pathways combined. The ΔF per generation based on pedigree, segment, and marker-by-marker genomic measures for the entire 29-yr period was estimated to be 0.75, 1.10, 1.16, and 1.02% for Holstein animals and 0.67, 0.62, 0.63, and 0.59% for Jersey animals, respectively. The Δf was estimated to be 0.98 and 0.98% for Holsteins and 0.73 and 0.78% for Jerseys with pedigree and genomic measures, respectively. These ΔF and Δf translated to an Ne that ranged from 43 to 66 animals for Holsteins and 64 to 85 animals for Jerseys. In addition, the Ne based on linkage disequilibrium was 58 and 120 for Holsteins and Jerseys, respectively. The 10-yr period that involved the application of genomic selection resulted in an increased ΔF per generation with ranges from 1.19 to 2.06% for pedigree and genomic measures in Holsteins. Given the rate at which inbreeding is increasing after the implementation of genomic selection, there is a need to implement measures and means for controlling the rate of inbreeding per year, which will help to manage and maintain farm animal genetic resources.

Symposium review: The genomic architecture of inbreeding: How homozygosity affects health and performance.

Inbreeding depression is a growing concern in livestock because it can detrimentally affect animal fitness, health, and production levels. Genomic information can be used to more effectively capture variance in Mendelian sampling, thereby enabling more accurate estimation of inbreeding, but further progress is still required. The calculation of inbreeding for herd management purposes is largely still done using pedigree information only, although inbreeding coefficients calculated in this manner have been shown to be less accurate than genomic inbreeding measures. Continuous stretches of homozygous genotypes, so called runs of homozygosity, have been shown to provide a better estimate of autozygosity at the genomic level than conventional measures based on inbreeding coefficients calculated through conventional pedigree information or even genomic relationship matrices. For improved and targeted management of genomic inbreeding at the population level, the development of methods that incorporate genomic information in mate selection programs may provide a more precise tool for reducing the detrimental effects of inbreeding in dairy herds. Additionally, a better understanding of the genomic architecture of inbreeding and incorporating that knowledge into breeding programs could significantly refine current practices. Opportunities to maintain high levels of genetic progress in traits of interest while managing homozygosity and sustaining acceptable levels of heterozygosity in highly selected dairy populations exist and should be examined more closely for continued sustainability of both the dairy cattle population as well as the dairy industry. The inclusion of precise genomic measures of inbreeding, such as runs of homozygosity, inbreeding, and mating programs, may provide a path forward. In this symposium review article, we describe traditional measures of inbreeding and the recent developments made toward more precise measures of homozygosity using genomic information. The effects of homozygosity resulting from inbreeding on phenotypes, the identification and mapping of detrimental homozygosity haplotypes, management of inbreeding with genomic data, and areas in need of further research are discussed.

Genetic parameter estimates for the use of an aviary with winter garden by laying hens.

The behavioral activity of laying hens in an aviary is indicative of their welfare and health. Furthermore, hens' usage of the different locations within an aviary has been shown to influence laying performance and egg quality. For example, hens that spent a longer duration of time in the nest during laying were observed to have lower laying performance. Therefore, understanding genetics of laying hens' usage of the aviary could be important for predicting egg quality, production traits and health and welfare. The objectives of this study were to estimate genetic parameters for duration of time spent at different locations within the aviary and an adjacent winter garden using a multivariate repeatability model and to compare correlations between time spent in these locations. For this study, a total of 1,106 Dekalb white laying hens (Hendrix Genetics) were genotyped using a proprietary 60K SNP array. These hens had access to 5 different zones within the aviary, which included the top level tier, nest box tier, lower level tier, floor littered area and a winter garden. Hens were in the aviary for a total of 290 d and daily records of duration were collected for each hen visit to any location in the aviary, culminating in a total of 937,740 records. Heritability estimates ranged from 0.05 (0.01) to 0.28 (0.03) for the duration of time spent in the different zones. The lowest heritability was estimated for time spent at the lower level tier, while a higher heritability was estimated for time spent in the floor littered area. A moderately high negative genetic correlation of -0.59 (0.08) was observed between time spent in the top level tier and time spent in the floor littered area, while a favorable correlation of 0.37 (0.14) was found between time spent in the lower level tier and time spent in the winter garden. The findings of this study show that the duration of time spent at different zones within an aviary has genetic basis and could be used for selecting animals for better performance and higher welfare.

Genome-wide association study reveals candidate genes relevant to body weight in female turkeys (Meleagris gallopavo).

The underlying genetic mechanisms affecting turkey growth traits have not been widely investigated. Genome-wide association studies (GWAS) is a powerful approach to identify candidate regions associated with complex phenotypes and diseases in livestock. In the present study, we performed GWAS to identify regions associated with 18-week body weight in a turkey population. The data included body weight observations for 24,989 female turkeys genotyped based on a 65K SNP panel. The analysis was carried out using a univariate mixed linear model with hatch-week-year and the 2 top principal components fitted as fixed effects and the accumulated polygenic effect of all markers captured by the genomic relationship matrix as random. Thirty-three significant markers were observed on 1, 2, 3, 4, 7 and 12 chromosomes, while 26 showed strong linkage disequilibrium extending up to 410 kb. These significant markers were mapped to 37 genes, of which 13 were novel. Interestingly, many of the investigated genes are known to be involved in growth and body weight. For instance, genes AKR1D1, PARP12, BOC, NCOA1, ADCY3 and CHCHD7 regulate growth, body weight, metabolism, digestion, bile acid biosynthetic and development of muscle cells. In summary, the results of our study revealed novel candidate genomic regions and candidate genes that could be managed within a turkey breeding program and adapted in fine mapping of quantitative trait loci to enhance genetic improvement in this species.

Applicability of single-step genomic evaluation with a random regression model for reproductive traits in turkeys (Meleagris gallopavo).

Fertility and hatchability are economically important traits due to their effect on poult output coming from the turkey hatchery. Traditionally, fertility is recorded as the number of fertile eggs set in the incubator (FERT), defined at a time point during incubation by the identification of a developing embryo. Hatchability is recorded as either the number of fertile eggs that hatched (hatch of fertile, HOF) or the number hatched from all the eggs set (hatch of set, HOS). These traits are collected throughout the productive life of the bird and are conventionally cumulated, resulting in each bird having a single record per trait. Genetic evaluations of these traits have been estimated using pedigree relationships. However, the longitudinal nature of the traits and the availability of genomic information have renewed interest in using random regression (RR) to capture the differences in repeatedly recorded traits, as well as in the incorporation of genomic relationships. Therefore, the objectives of this study were: 1) to compare the applicability of a RR model with a cumulative model (CUM) using both pedigree and genomic information for genetic evaluation of FERT, HOF, and HOS and 2) to estimate and compare predictability from the models. For this study, a total of 63,935 biweekly FERT, HOF, and HOS records from 7,211 hens mated to 1,524 toms were available for a maternal turkey line. In total, 4,832 animals had genotypic records, and pedigree information on 11,191 animals was available. Estimated heritability from the CUM model using pedigree information was 0.11 ± 0.02, 0.24 ± 0.02, and 0.24 ± 0.02 for FERT, HOF, and HOS, respectively. With random regression using pedigree relationships, heritability estimates were in the range of 0.04-0.09, 0.11-0.17, and 0.09-0.18 for FERT, HOF, and HOS, respectively. The incorporation of genomic information increased the heritability by an average of 28 and 23% for CUM and RR models, respectively. In addition, the incorporation of genomic information caused predictability to increase by approximately 11 and 7% for HOF and HOS, respectively; however, a decrease in predictability of about 12% was observed for FERT. Our findings suggest that RR models using pedigree and genomic relationships simultaneously will achieve a higher predictability than the traditional CUM model.

Reliability of a White Striping Scoring System and Description of White Striping Prevalence in Purebred Turkey Lines.

To efficiently meet consumer demands for high-quality lean meat, turkeys are selected for increased meat yield, mainly by increasing breast muscle size and growth efficiency. Over time, this has altered muscle morphology and development rates, which are believed to contribute to the prevalence of myopathies. White striping is a myopathy of economic importance which presents as varying degrees of white striations on the surface of skinless breast muscle and can negatively affect consumer acceptance at the point of sale. Breeding for improved meat quality may be a novel strategy for mitigating the development of white striping in turkey meat; however, it is crucial to have a reliable assessment tool before it can be considered as a phenotype. Six observers used a four-category scoring system (0-3) to score severity in several controlled rounds and evaluate intra- and inter-observer reliability of the scoring system. After sufficient inter-observer reliability (Kendall's W > 0.6) was achieved, 12,321 turkey breasts, from four different purebred lines, were scored to assess prevalence of the condition and analyze its relationship with important growth traits. Overall, the prevalence of white striping (Score > 0) was approximately 88% across all genetic lines studied, with most scores being of moderate-severe severity (Score 1 or 2). As was expected, increased white striping severity was associated with higher slaughter weight, breast weight, and breast meat yield (BMY) within each genetic line. This study highlights the importance of training to improve the reliability of a scoring system for white striping in turkeys and was required to provide an updated account on white striping prevalence in modern turkeys. Furthermore, we showed that white striping is an important breast muscle myopathy in turkeys linked to heavily selected traits such as body weight and BMY. White striping should be investigated further as a novel phenotype in future domestic turkey selection through use of a balanced selection index.

Modeling genetic components of hatch of fertile in broiler breeders.

Reproductive efficiency such as fertility and hatch of fertile (HoF) are of economic importance and concern to breeding companies becaue of their effects on chick output. Similar to other traits of economic importance in poultry breeding, the rate of response for HoF is largely dependent on the use of an appropriate model for evaluating the trait. Therefore, the objectives of this study were to estimate genetic parameters from cumulative, repeatability, fixed regression, random regression, and multitrait models for HoF from a pure-line broiler breeder. The data available for this study consisted of weekly HoF records from 11,729 hens with a total pedigree record of 38,260. Estimates of heritability from the various models ranged from 0.04 to 0.22 with the highest estimate obtained from the cumulative model and the lowest from the repeatability model. Responses to selection estimated for the different models ranged from 0.03 to 0.08% gain per year of the phenotypic mean. In general, the cumulative and the repeatability models underestimated response to selection. The multitrait and random regression models gave similar results for response to selection at 0.08 percentage change in phenotypic mean. In conclusion, the cumulative model is not optimal for modeling HoF, and likewise, the repeatability model. The random regression and multitrait models should be considered instead as they offered a higher response to selection. However, if a multitrait analysis is to be considered, it is recommended to split up the production period in such a way as to avoid computational constraints due to overparameterization.

Investigating inbreeding in the turkey (Meleagris gallopavo) genome.

The detrimental effects of increased homozygosity due to inbreeding have prompted the development of methods to reduce inbreeding. The detection of runs of homozygosity (ROH), or contiguous stretches of homozygous marker genotypes, can be used to describe and quantify the level of inbreeding in an individual. The estimation of inbreeding coefficients can be calculated based on pedigree information, ROH, or the genomic relationship matrix. The aim of this study was to detect and describe ROH in the turkey genome and compare estimates of pedigree-based inbreeding coefficients (FPED) with genomic-based inbreeding coefficients estimated from ROH (FROH) and the genomic relationship matrix (FGRM). A total of 2,616,890 pedigree records were available. Of these records, 6,371 genotyped animals from three purebred turkey (Meleagris gallopavo) lines between 2013 and 2019 were available, and these were obtained using a dense single nucleotide polymorphism array (56,452 SNPs). The overall mean length of detected ROH was 2.87 ± 0.29 Mb with a mean number of 84.87 ± 8.79 ROH per animal. Short ROH with lengths of 1 to 2 Mb long were the most abundant throughout the genome. Mean ROH coverage differed greatly between chromosomes and lines. Considering inbreeding coefficient means across all lines, genomic derived inbreeding coefficients (FROH = 0.27; FGRM = 0.32) were higher than coefficients estimated from pedigree records (FPED = 0.14). Correlations between FROH and FPED, FROH and FGRM, and FPED and FGRM ranged between 0.19 to 0.31, 0.68 to 0.73, and 0.17 to 0.30, respectively. Additionally, correlations between FROH from different lengths and FPED substantially increased with ROH length from -0.06 to 0.33. Results of the current research, including the distribution of ROH throughout the genome and ROH-derived inbreeding estimates, can provide a more comprehensive description of inbreeding in the turkey genome. This knowledge can be used to evaluate genetic diversity, a requirement for genetic improvement, and develop methods to minimize inbreeding in turkey breeding programs.