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1.
BMC Genomics ; 25(1): 658, 2024 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-38956486

RESUMO

BACKGROUND: The cashmere goat industry is one of the main pillars of animal husbandry in Inner Mongolia Autonomous Region, and plays an irreplaceable role in local economic development. With the change in feeding methods and environment, the cashmere produced by Inner Mongolia cashmere goats shows a tendency of coarser, and the cashmere yield can not meet the consumption demand of people. However, the genetic basis behind these changes is not fully understood. We measured cashmere traits, including cashmere yield (CY), cashmere diameter (CD), cashmere thickness (CT), and fleece length (FL) traits for four consecutive years, and utilized Genome-wide association study of four cashmere traits in Inner Mongolia cashmere goats was carried out using new genomics tools to infer genomic regions and functional loci associated with cashmere traits and to construct haplotypes that significantly affect cashmere traits. RESULTS: We estimated the genetic parameters of cashmere traits in Inner Mongolia cashmere goats. The heritability of cashmere yield, cashmere diameter, and fleece length traits of Inner Mongolia cashmere goats were 0.229, 0.359, and 0.250, which belonged to the medium heritability traits (0.2 ~ 0.4). The cashmere thickness trait has a low heritability of 0.053. We detected 151 genome-wide significantly associated SNPs with four cashmere traits on different chromosomes, which were very close to the chromosomes of 392 genes (located within the gene or within ± 500 kb). Notch3, BMPR1B, and CCNA2 have direct functional associations with fibroblasts and follicle stem cells, which play important roles in hair follicle growth and development. Based on GO functional annotation and KEGG enrichment analysis, potential candidate genes were associated with pathways of hair follicle genesis and development (Notch, P13K-Akt, TGF-beta, Cell cycle, Wnt, MAPK). We calculated the effective allele number of the Inner Mongolia cashmere goat population to be 1.109-1.998, the dominant genotypes of most SNPs were wild-type, the polymorphic information content of 57 SNPs were low polymorphism (0 < PIC < 0.25), and the polymorphic information content of 79 SNPs were moderate polymorphism (0.25 < PIC < 0.50). We analyzed the association of SNPs with phenotypes and found that the homozygous mutant type of SNP1 and SNP3 was associated with the highest cashmere yield, the heterozygous mutant type of SNP30 was associated with the lowest cashmere thickness, the wild type of SNP76, SNP77, SNP78, SNP80, and SNP81 was associated with the highest cashmere thickness, and the wild type type of SNP137 was associated with the highest fleece length. 21 haplotype blocks and 68 haplotype combinations were constructed. Haplotypes A2A2, B2B2, C2C2, and D4D4 were associated with increased cashmere yield, haplotypes E2E2, F1F1, G5G5, and G1G5 were associated with decreased cashmere fineness, haplotypes H2H2 was associated with increased cashmere thickness, haplotypes I1I1, I1I2, J1J4, L5L3, N3N2, N3N3, O2O1, P2P2, and Q3Q3 were associated with increased cashmere length. We verified the polymorphism of 8 SNPs by KASP, and found that chr7_g.102631194A > G, chr10_g.82715068 T > C, chr1_g.124483769C > T, chr24_g.12811352C > T, chr6_g.114111249A > G, and chr6_g.115606026 T > C were significantly genotyped in verified populations (P < 0.05). CONCLUSIONS: In conclusion, the genetic effect of single SNP on phenotypes is small, and SNPs are more inclined to be inherited as a whole. By constructing haplotypes from SNPs that are significantly associated with cashmere traits, it will help to reveal the complex and potential causal variations in cashmere traits of Inner Mongolia cashmere goats. This will be a valuable resource for genomics and breeding of the cashmere goat.


Assuntos
Estudo de Associação Genômica Ampla , Cabras , Haplótipos , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas , Animais , Cabras/genética , Cabras/crescimento & desenvolvimento , Fenótipo , China , Característica Quantitativa Herdável
2.
Anim Sci J ; 95(1): e13978, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38978175

RESUMO

Genomic prediction was conducted using 2494 Japanese Black cattle from Hiroshima Prefecture and both single-nucleotide polymorphism information and phenotype data on monounsaturated fatty acid (MUFA) and oleic acid (C18:1) analyzed with gas chromatography. We compared the prediction accuracy for four models (A, additive genetic effects; AD, as for A with dominance genetic effects; ADR, as for AD with the runs of homozygosity (ROH) effects calculated by ROH-based relationship matrix; and ADF, as for AD with the ROH-based inbreeding coefficient of the linear regression). Bayesian methods were used to estimate variance components. The narrow-sense heritability estimates for MUFA and C18:1 were 0.52-0.53 and 0.57, respectively; the corresponding proportions of dominance genetic variance were 0.04-0.07 and 0.04-0.05, and the proportion of ROH variance was 0.02. The deviance information criterion values showed slight differences among the models, and the models provided similar prediction accuracy.


Assuntos
Teorema de Bayes , Polimorfismo de Nucleotídeo Único , Animais , Bovinos/genética , Bovinos/metabolismo , Característica Quantitativa Herdável , Ácidos Graxos Monoinsaturados/análise , Ácidos Graxos Monoinsaturados/metabolismo , Fenótipo , Ácido Oleico/análise , Homozigoto , Genômica , Modelos Genéticos , Ácidos Graxos/análise , Ácidos Graxos/metabolismo
3.
BMC Genomics ; 25(1): 690, 2024 Jul 13.
Artigo em Inglês | MEDLINE | ID: mdl-39003468

RESUMO

BACKGROUND: Heritability partitioning approaches estimate the contribution of different functional classes, such as coding or regulatory variants, to the genetic variance. This information allows a better understanding of the genetic architecture of complex traits, including complex diseases, but can also help improve the accuracy of genomic selection in livestock species. However, methods have mainly been tested on human genomic data, whereas livestock populations have specific characteristics, such as high levels of relatedness, small effective population size or long-range levels of linkage disequilibrium. RESULTS: Here, we used data from 14,762 cows, imputed at the whole-genome sequence level for 11,537,240 variants, to simulate traits in a typical livestock population and evaluate the accuracy of two state-of-the-art heritability partitioning methods, GREML and a Bayesian mixture model. In simulations where a single functional class had increased contribution to heritability, we observed that the estimators were unbiased but had low precision. When causal variants were enriched in variants with low (< 0.05) or high (> 0.20) minor allele frequency or low (below 1st quartile) or high (above 3rd quartile) linkage disequilibrium scores, it was necessary to partition the genetic variance into multiple classes defined on the basis of allele frequencies or LD scores to obtain unbiased results. When multiple functional classes had variable contributions to heritability, estimators showed higher levels of variation and confounding between certain categories was observed. In addition, estimators from small categories were particularly imprecise. However, the estimates and their ranking were still informative about the contribution of the classes. We also demonstrated that using methods that estimate the contribution of a single category at a time, a commonly used approach, results in an overestimation. Finally, we applied the methods to phenotypes for muscular development and height and estimated that, on average, variants in open chromatin regions had a higher contribution to the genetic variance (> 45%), while variants in coding regions had the strongest individual effects (> 25-fold enrichment on average). Conversely, variants in intergenic or intronic regions showed lower levels of enrichment (0.2 and 0.6-fold on average, respectively). CONCLUSIONS: Heritability partitioning approaches should be used cautiously in livestock populations, in particular for small categories. Two-component approaches that fit only one functional category at a time lead to biased estimators and should not be used.


Assuntos
Desequilíbrio de Ligação , Gado , Animais , Gado/genética , Bovinos/genética , Teorema de Bayes , Modelos Genéticos , Frequência do Gene , Polimorfismo de Nucleotídeo Único , Característica Quantitativa Herdável , Variação Genética , Genômica/métodos , Fenótipo
4.
PLoS One ; 19(7): e0305749, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38985721

RESUMO

This study aimed to identify important non-genetic factors and estimate genetic parameters for efficiency-related traits in Boer x Central Highland goats. The genetic parameters were estimated using the Average Information Restricted Maximum Likelihood algorithm using the WOMBAT program fitting animal model. The least-squares means for growth efficiency from birth to 3 months (GE1), 3-6 months (GE2), 6-12 months (GE3), relative growth rate from birth to 3 months (RGR1), 3-6 months (RGR2) and 6-12 month (RGR3) were 294.0 ± 5.06, 36.6 ± 1.20, 44.9 ± 1.81, 1.46 ± 0.01, 0.32 ± 0.01 and 0.19 ± 0.01, respectively. Birth type, blood level, sex of the kid, and year of kidding had a sizable effect on efficiency-related traits. About 18, 3.0, 23, 20, and 12% of the phenotypic variation in GE2, GE3, RGR1, RGR2, and RGR3 was explained by the direct additive genetic effect. Except for RGR3, all investigated traits were under the influence of maternal genetic effect, and maternal heritability ranged from 0.09 to 0.17. The total heritability estimate depicts that slow genetic progress would be expected from selection. Nevertheless, even with this level of heritability, selection for efficiency-related traits would improve the efficiency of chevon production as these traits are economically important traits. Nearly six-months of age was when farmers sold Boer crossbred goats. Therefore, improving the growth efficiency till the marketing age (GE2) in such a scenario could increase the production efficiency.


Assuntos
Cabras , Animais , Cabras/genética , Cabras/crescimento & desenvolvimento , Feminino , Masculino , Fenótipo , Característica Quantitativa Herdável , Cruzamento/métodos
5.
Anim Sci J ; 95(1): e13968, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38951923

RESUMO

We predicted the energy balance of cows from milk traits and estimated the genetic correlations of predicted energy balance (PEB) with fertility traits for the first three lactations. Data included 9,646,606 test-day records of 576,555 Holstein cows in Japan from 2015 to 2019. Genetic parameters were estimated with a multiple-trait model in which the records among lactation stages and parities were treated as separate traits. Fertility traits were conception rate at first insemination (CR), number of inseminations (NI), and days open (DO). Heritability estimates of PEB were 0.28-0.35 (first lactation), 0.15-0.29 (second), and 0.09-0.23 (third). Estimated genetic correlations among lactation stages were 0.85-1.00 (first lactation), 0.73-1.00 (second), and 0.64-1.00 (third). Estimated genetic correlations among parities were 0.82-0.96 (between first and second), 0.97-0.99 (second and third), and 0.69-0.92 (first and third). Estimated genetic correlations of PEB in early lactation with fertility were 0.04 to 0.19 for CR, -0.03 to -0.19 for NI, and -0.01 to -0.24 for DO. Genetic improvement of PEB is possible. Lower PEB in early lactation was associated with worse fertility, suggesting that improving PEB in early lactation may improve reproductive performance.


Assuntos
Metabolismo Energético , Fertilidade , Lactação , Leite , Animais , Bovinos/genética , Bovinos/fisiologia , Bovinos/metabolismo , Feminino , Metabolismo Energético/genética , Fertilidade/genética , Fertilização/genética , Japão , Lactação/genética , Leite/metabolismo , Característica Quantitativa Herdável
6.
Genet Sel Evol ; 56(1): 49, 2024 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-38926647

RESUMO

BACKGROUND: Multi-population genomic prediction can rapidly expand the size of the reference population and improve genomic prediction ability. Machine learning (ML) algorithms have shown advantages in single-population genomic prediction of phenotypes. However, few studies have explored the effectiveness of ML methods for multi-population genomic prediction. RESULTS: In this study, 3720 Yorkshire pigs from Austria and four breeding farms in China were used, and single-trait genomic best linear unbiased prediction (ST-GBLUP), multitrait GBLUP (MT-GBLUP), Bayesian Horseshoe (BayesHE), and three ML methods (support vector regression (SVR), kernel ridge regression (KRR) and AdaBoost.R2) were compared to explore the optimal method for joint genomic prediction of phenotypes of Chinese and Austrian pigs through 10 replicates of fivefold cross-validation. In this study, we tested the performance of different methods in two scenarios: (i) including only one Austrian population and one Chinese pig population that were genetically linked based on principal component analysis (PCA) (designated as the "two-population scenario") and (ii) adding reference populations that are unrelated based on PCA to the above two populations (designated as the "multi-population scenario"). Our results show that, the use of MT-GBLUP in the two-population scenario resulted in an improvement of 7.1% in predictive ability compared to ST-GBLUP, while the use of SVR and KKR yielded improvements in predictive ability of 4.5 and 5.3%, respectively, compared to MT-GBLUP. SVR and KRR also yielded lower mean square errors (MSE) in most population and trait combinations. In the multi-population scenario, improvements in predictive ability of 29.7, 24.4 and 11.1% were obtained compared to ST-GBLUP when using, respectively, SVR, KRR, and AdaBoost.R2. However, compared to MT-GBLUP, the potential of ML methods to improve predictive ability was not demonstrated. CONCLUSIONS: Our study demonstrates that ML algorithms can achieve better prediction performance than multitrait GBLUP models in multi-population genomic prediction of phenotypes when the populations have similar genetic backgrounds; however, when reference populations that are unrelated based on PCA are added, the ML methods did not show a benefit. When the number of populations increased, only MT-GBLUP improved predictive ability in both validation populations, while the other methods showed improvement in only one population.


Assuntos
Fenótipo , Animais , Áustria , Suínos/genética , Reprodução/genética , Genômica/métodos , Cruzamento/métodos , China , Modelos Genéticos , Aprendizado de Máquina , Teorema de Bayes , Característica Quantitativa Herdável
7.
Genes (Basel) ; 15(6)2024 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-38927585

RESUMO

This research focuses on 72 approved varieties of colored wheat from different provinces in China. Utilizing coefficients of variation, structural equation models, and correlation analyses, six agronomic traits of colored wheat were comprehensively evaluated, followed by further research on different dwarfing genes in colored wheat. Using the entropy method revealed that among the 72 colored wheat varieties, 10 were suitable for cultivation. Variety 70 was the top-performing variety, with a comprehensive index of 87.15%. In the final established structural equation model, each agronomic trait exhibited a positive direct effect on yield. Notably, plant height, spike length, and flag leaf width had significant impacts on yield, with path coefficients of 0.55, 0.40, and 0.27. Transcriptome analysis and real-time fluorescence quantitative polymerase chain reaction (RT-qPCR) validation were used to identify three dwarfing genes controlling plant height: Rht1, Rht-D1, and Rht8. Subsequent RT-qPCR validation clustering heatmap results indicated that Rht-D1 gene expression increased with the growth of per-acre yield. Rht8 belongs to the semi-dwarf gene category and has a significant positive effect on grain yield. However, the impact of Rht1, as a dwarfing gene, on agronomic traits varies. These research findings provide crucial references for the breeding of new varieties.


Assuntos
Triticum , Triticum/genética , Triticum/crescimento & desenvolvimento , Proteínas de Plantas/genética , Regulação da Expressão Gênica de Plantas , China , Genes de Plantas/genética , Fenótipo , Grão Comestível/genética , Grão Comestível/crescimento & desenvolvimento , Melhoramento Vegetal/métodos , Característica Quantitativa Herdável , Perfilação da Expressão Gênica/métodos
8.
Genet Sel Evol ; 56(1): 46, 2024 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-38890567

RESUMO

BACKGROUND: Linear models that are commonly used to predict breeding values in livestock species consider paternal influence solely as a genetic effect. However, emerging evidence in several species suggests the potential effect of non-genetic semen-mediated paternal effects on offspring phenotype. This study contributes to such research by analyzing the extent of non-genetic paternal effects on the performance of Holstein, Montbéliarde, and Normande dairy cows. Insemination data, including semen Batch Identifier (BI, a combination of bull identification and collection date), was associated with various traits measured in cows born from the insemination. These traits encompassed stature, milk production (milk, fat, and protein yields), udder health (somatic cell score and clinical mastitis), and female fertility (conception rates of heifers and cows). We estimated (1) the effects of age at collection and heat stress during spermatogenesis, and (2) the variance components associated with BI or Weekly aggregated BI (WBI). RESULTS: Overall, the non-genetic paternal effect estimates were small and of limited biological importance. However, while heat stress during spermatogenesis did not show significant associations with any of the traits studied in daughters, we observed significant effects of bull age at semen collection on the udder health of daughters. Indeed, cows born from bulls collected after 1500 days of age had higher somatic cell scores compared to those born from bulls collected at a younger age (less than 400 days old) in both Holstein and Normande breeds (+ 3% and + 5% of the phenotypic mean, respectively). In addition, across all breeds and traits analyzed, the estimates of non-genetic paternal variance were consistently low, representing on average 0.13% and 0.09% of the phenotypic variance for BI and WBI, respectively (ranging from 0 to 0.7%). These estimates did not significantly differ from zero, except for milk production traits (milk, fat, and protein yields) in the Holstein breed and protein yield in the Montbéliarde breed when WBI was considered. CONCLUSIONS: Our findings indicate that non-genetic paternal information transmitted through semen does not substantially influence the offspring phenotype in dairy cattle breeds for routinely measured traits. This lack of substantial impact may be attributed to limited transmission or minimal exposure of elite bulls to adverse conditions.


Assuntos
Idade Paterna , Fenótipo , Animais , Bovinos/genética , Bovinos/fisiologia , Masculino , Feminino , Resposta ao Choque Térmico/genética , Lactação/genética , Leite/metabolismo , Característica Quantitativa Herdável , Fertilidade/genética , Cruzamento , Sêmen
9.
Int J Mol Sci ; 25(11)2024 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-38891814

RESUMO

Copy number variation (CNV) serves as a significant source of genetic diversity in mammals and exerts substantial effects on various complex traits. Pingliang red cattle, an outstanding indigenous resource in China, possess remarkable breeding value attributed to their tender meat and superior marbling quality. However, the genetic mechanisms influencing carcass and meat quality traits in Pingliang red cattle are not well understood. We generated a comprehensive genome-wide CNV map for Pingliang red cattle using the GGP Bovine 100K SNP chip. A total of 755 copy number variable regions (CNVRs) spanning 81.03 Mb were identified, accounting for approximately 3.24% of the bovine autosomal genome. Among these, we discovered 270 potentially breed-specific CNVRs in Pingliang red cattle, including 143 gains, 73 losses, and 54 mixed events. Functional annotation analysis revealed significant associations between these specific CNVRs and important traits such as carcass and meat quality, reproduction, exterior traits, growth traits, and health traits. Additionally, our network and transcriptome analysis highlighted CACNA2D1, CYLD, UBXN2B, TG, NADK, and ITGA9 as promising candidate genes associated with carcass weight and intramuscular fat deposition. The current study presents a genome-wide CNV map in Pingliang red cattle, highlighting breed-specific CNVRs, and transcriptome findings provide valuable insights into the underlying genetic characteristics of Pingliang red cattle. These results offer potential avenues for enhancing meat quality through a targeted breeding program.


Assuntos
Variações do Número de Cópias de DNA , Estudo de Associação Genômica Ampla , Carne , Animais , Bovinos/genética , Variações do Número de Cópias de DNA/genética , Estudo de Associação Genômica Ampla/métodos , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas , Fenótipo , Cruzamento , Genoma , Qualidade dos Alimentos , Característica Quantitativa Herdável
10.
Sci Rep ; 14(1): 13316, 2024 06 10.
Artigo em Inglês | MEDLINE | ID: mdl-38858489

RESUMO

Flag leaf (FL) dimension has been reported as a key ecophysiological aspect for boosting grain yield in wheat. A worldwide winter wheat panel consisting of 261 accessions was tested to examine the phenotypical variation and identify quantitative trait nucleotides (QTNs) with candidate genes influencing FL morphology. To this end, four FL traits were evaluated during the early milk stage under two growing seasons at the Leibniz Institute of Plant Genetics and Crop Plant Research. The results showed that all leaf traits (Flag leaf length, width, area, and length/width ratio) were significantly influenced by the environments, genotypes, and environments × genotypes interactions. Then, a genome-wide association analysis was performed using 17,093 SNPs that showed 10 novel QTNs that potentially play a role in modulating FL morphology in at least two environments. Further analysis revealed 8 high-confidence candidate genes likely involved in these traits and showing high expression values from flag leaf expansion until its senescence and also during grain development. An important QTN (wsnp_RFL_Contig2177_1500201) was associated with FL width and located inside TraesCS3B02G047300 at chromosome 3B. This gene encodes a major facilitator, sugar transporter-like, and showed the highest expression values among the candidate genes reported, suggesting their positive role in controlling flag leaf and potentially being involved in photosynthetic assimilation. Our study suggests that the detection of novel marker-trait associations and the subsequent elucidation of the genetic mechanism influencing FL morphology would be of interest for improving plant architecture, light capture, and photosynthetic efficiency during grain development.


Assuntos
Alelos , Estudo de Associação Genômica Ampla , Fenótipo , Folhas de Planta , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas , Triticum , Triticum/genética , Triticum/crescimento & desenvolvimento , Folhas de Planta/genética , Folhas de Planta/crescimento & desenvolvimento , Genótipo , Variação Genética , Característica Quantitativa Herdável
11.
Genet Sel Evol ; 56(1): 44, 2024 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-38858613

RESUMO

BACKGROUND: Longitudinal records of automatically-recorded vaginal temperature (TV) could be a key source of data for deriving novel indicators of climatic resilience (CR) for breeding more resilient pigs, especially during lactation when sows are at an increased risk of suffering from heat stress (HS). Therefore, we derived 15 CR indicators based on the variability in TV in lactating sows and estimated their genetic parameters. We also investigated their genetic relationship with sows' key reproductive traits. RESULTS: The heritability estimates of the CR traits ranged from 0.000 ± 0.000 for slope for decreased rate of TV (SlopeDe) to 0.291 ± 0.047 for sum of TV values below the HS threshold (HSUB). Moderate to high genetic correlations (from 0.508 ± 0.056 to 0.998 ± 0.137) and Spearman rank correlations (from 0.431 to 1.000) between genomic estimated breeding values (GEBV) were observed for five CR indicators, i.e. HS duration (HSD), the normalized median multiplied by normalized variance (Nor_medvar), the highest TV value of each measurement day for each individual (MaxTv), and the sum of the TV values above (HSUA) and below (HSUB) the HS threshold. These five CR indicators were lowly to moderately genetically correlated with shoulder skin surface temperature (from 0.139 ± 0.008 to 0.478 ± 0.048) and respiration rate (from 0.079 ± 0.011 to 0.502 ± 0.098). The genetic correlations between these five selected CR indicators and sow reproductive performance traits ranged from - 0.733 to - 0.175 for total number of piglets born alive, from - 0.733 to - 0.175 for total number of piglets born, and from - 0.434 to - 0.169 for number of pigs weaned. The individuals with the highest GEBV (most climate-sensitive) had higher mean skin surface temperature, respiration rate (RR), panting score (PS), and hair density, but had lower mean body condition scores compared to those with the lowest GEBV (most climate-resilient). CONCLUSIONS: Most of the CR indicators evaluated are heritable with substantial additive genetic variance. Five of them, i.e. HSD, MaxTv, HSUA, HSUB, and Nor_medvar share similar underlying genetic mechanisms. In addition, individuals with higher CR indicators are more likely to exhibit better HS-related physiological responses, higher body condition scores, and improved reproductive performance under hot conditions. These findings highlight the potential benefits of genetically selecting more heat-tolerant individuals based on CR indicators.


Assuntos
Resposta ao Choque Térmico , Lactação , Animais , Feminino , Lactação/genética , Suínos/genética , Suínos/fisiologia , Resposta ao Choque Térmico/genética , Vagina , Temperatura Corporal , Clima , Cruzamento/métodos , Característica Quantitativa Herdável
12.
Nat Genet ; 56(6): 1310-1318, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38831010

RESUMO

While genome-wide association studies are increasingly successful in discovering genomic loci associated with complex human traits and disorders, the biological interpretation of these findings remains challenging. Here we developed the GSA-MiXeR analytical tool for gene set analysis (GSA), which fits a model for the heritability of individual genes, accounting for linkage disequilibrium across variants and allowing the quantification of partitioned heritability and fold enrichment for small gene sets. We validated the method using extensive simulations and sensitivity analyses. When applied to a diverse selection of complex traits and disorders, including schizophrenia, GSA-MiXeR prioritizes gene sets with greater biological specificity compared to standard GSA approaches, implicating voltage-gated calcium channel function and dopaminergic signaling for schizophrenia. Such biologically relevant gene sets, often with fewer than ten genes, are more likely to provide insights into the pathobiology of complex diseases and highlight potential drug targets.


Assuntos
Estudo de Associação Genômica Ampla , Desequilíbrio de Ligação , Esquizofrenia , Humanos , Estudo de Associação Genômica Ampla/métodos , Esquizofrenia/genética , Herança Multifatorial/genética , Modelos Genéticos , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas , Predisposição Genética para Doença , Mapeamento Cromossômico/métodos , Simulação por Computador , Característica Quantitativa Herdável
13.
New Phytol ; 243(3): 881-893, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38840520

RESUMO

Differences in demographic and environmental niches facilitate plant species coexistence in tropical forests. However, the adaptations that enable species to achieve higher demographic rates (e.g. growth or survival) or occupy unique environmental niches (e.g. waterlogged conditions) remain poorly understood. Anatomical traits may better predict plant environmental and demographic strategies because they are direct measurements of structures involved in these adaptations. We collected 18 leaf and twig traits from 29 tree species in a tropical freshwater swamp forest in Singapore. We estimated demographic parameters of the 29 species from growth and survival models, and degree of association toward swamp habitats. We examined pairwise trait-trait, trait-demography and trait-environment links while controlling for phylogeny. Leaf and twig anatomical traits were better predictors of all demographic parameters than other commonly measured leaf and wood traits. Plants with wider vessels had faster growth rates but lower survival rates. Leaf and spongy mesophyll thickness predicted swamp association. These findings demonstrate the utility of anatomical traits as indicators of plant hydraulic strategies and their links to growth-mortality trade-offs and waterlogging stress tolerance that underlie species coexistence mechanisms in tropical forest trees.


Assuntos
Adaptação Fisiológica , Florestas , Folhas de Planta , Árvores , Clima Tropical , Áreas Alagadas , Folhas de Planta/fisiologia , Folhas de Planta/anatomia & histologia , Árvores/fisiologia , Característica Quantitativa Herdável , Água Doce , Ecossistema , Especificidade da Espécie
14.
Am J Hum Genet ; 111(7): 1462-1480, 2024 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-38866020

RESUMO

Understanding the contribution of gene-environment interactions (GxE) to complex trait variation can provide insights into disease mechanisms, explain sources of heritability, and improve genetic risk prediction. While large biobanks with genetic and deep phenotypic data hold promise for obtaining novel insights into GxE, our understanding of GxE architecture in complex traits remains limited. We introduce a method to estimate the proportion of trait variance explained by GxE (GxE heritability) and additive genetic effects (additive heritability) across the genome and within specific genomic annotations. We show that our method is accurate in simulations and computationally efficient for biobank-scale datasets. We applied our method to common array SNPs (MAF ≥1%), fifty quantitative traits, and four environmental variables (smoking, sex, age, and statin usage) in unrelated white British individuals in the UK Biobank. We found 68 trait-E pairs with significant genome-wide GxE heritability (p<0.05/200) with a ratio of GxE to additive heritability of ≈6.8% on average. Analyzing ≈8 million imputed SNPs (MAF ≥0.1%), we documented an approximate 28% increase in genome-wide GxE heritability compared to array SNPs. We partitioned GxE heritability across minor allele frequency (MAF) and local linkage disequilibrium (LD) values, revealing that, like additive allelic effects, GxE allelic effects tend to increase with decreasing MAF and LD. Analyzing GxE heritability near genes highly expressed in specific tissues, we find significant brain-specific enrichment for body mass index (BMI) and basal metabolic rate in the context of smoking and adipose-specific enrichment for waist-hip ratio (WHR) in the context of sex.


Assuntos
Interação Gene-Ambiente , Estudo de Associação Genômica Ampla , Herança Multifatorial , Polimorfismo de Nucleotídeo Único , Humanos , Herança Multifatorial/genética , Masculino , Feminino , Característica Quantitativa Herdável , Fenótipo , Modelos Genéticos , Locos de Características Quantitativas
15.
BMC Genomics ; 25(1): 645, 2024 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-38943081

RESUMO

BACKGROUND: Wenchang chickens are one of the most popular local chicken breeds in the Chinese chicken industry. However, the low feed efficiency is the main shortcoming of this breed. Therefore, there is a need to find a more precise breeding method to improve the feed efficiency of Wenchang chickens. In this study, we explored important candidate genes and variants for feed efficiency and growth traits through genome-wide association study (GWAS) analysis. RESULTS: Estimates of genomic heritability for growth and feed efficiency traits, including residual feed intake (RFI) of 0.05, average daily food intake (ADFI) of 0.21, average daily weight gain (ADG) of 0.24, body weight (BW) at 87, 95, 104, 113 days of age (BW87, BW95, BW104 and BW113) ranged from 0.30 to 0.44. Important candidate genes related to feed efficiency and growth traits were identified, such as PLCE1, LAP3, MED28, QDPR, LDB2 and SEL1L3 genes. CONCLUSION: The results identified important candidate genes for feed efficiency and growth traits in Wenchang chickens and provide a theoretical basis for the development of new molecular breeding technology.


Assuntos
Galinhas , Estudo de Associação Genômica Ampla , Polimorfismo de Nucleotídeo Único , Animais , Galinhas/genética , Galinhas/crescimento & desenvolvimento , Fenótipo , Ração Animal , Locos de Características Quantitativas , Característica Quantitativa Herdável
16.
Genet Sel Evol ; 56(1): 48, 2024 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-38902596

RESUMO

BACKGROUND: Previous research showed that deviations in longitudinal data are heritable and can be used as a proxy for pigs' general resilience. However, only a few studies investigated the relationship between these resilience traits and other traits related to resilience and welfare. Therefore, this study investigated the relationship between resilience traits derived from deviations in longitudinal data and traits related to animal resilience, health and welfare, such as tail and ear biting wounds, lameness and mortality. RESULTS: In our experiment, 1919 finishing pigs with known pedigree (133 Piétrain sires and 266 crossbred dams) were weighed every 2 weeks and scored for physical abnormalities, such as lameness and ear and tail biting wounds (17,066 records). Resilience was assessed via deviations in body weight, deviations in weighing order and deviations in observed activity during weighing. The association between these resilience traits and physical abnormality traits was investigated and genetic parameters were estimated. Deviations in body weight had moderate heritability estimates (h2 = 25.2 to 36.3%), whereas deviations in weighing order (h2 = 4.2%) and deviations in activity during weighing (h2 = 12.0%) had low heritability estimates. Moreover, deviations in body weight were positively associated and genetically correlated with tail biting wounds (rg = 0.22 to 0.30), lameness (rg = 0.15 to 0.31) and mortality (rg = 0.19 to 0.33). These results indicate that events of tail biting, lameness and mortality are associated with deviations in pigs' body weight evolution. This relationship was not found for deviations in weighing order and activity during weighing. Furthermore, individual body weight deviations were positively correlated with uniformity at the pen level, providing evidence that breeding for these resilience traits might increase both pigs' resilience and within-family uniformity. CONCLUSIONS: In summary, our findings show that breeding for resilience traits based on deviations in longitudinal weight data can decrease pigs' tail biting wounds, lameness and mortality while improving uniformity at the pen level. These findings are valuable for pig breeders, as they offer evidence that these resilience traits are an indication of animals' general health, welfare and resilience. Moreover, these results will stimulate the quantification of resilience via longitudinal body weights in other species.


Assuntos
Mordeduras e Picadas , Coxeadura Animal , Cauda , Animais , Suínos , Cauda/lesões , Mordeduras e Picadas/psicologia , Feminino , Masculino , Peso Corporal , Cruzamento/métodos , Característica Quantitativa Herdável , Fenótipo , Doenças dos Suínos/genética
17.
Genet Sel Evol ; 56(1): 33, 2024 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-38698321

RESUMO

BACKGROUND: Recursive models are a category of structural equation models that propose a causal relationship between traits. These models are more parameterized than multiple trait models, and they require imposing restrictions on the parameter space to ensure statistical identification. Nevertheless, in certain situations, the likelihood of recursive models and multiple trait models are equivalent. Consequently, the estimates of variance components derived from the multiple trait mixed model can be converted into estimates under several recursive models through LDL' or block-LDL' transformations. RESULTS: The procedure was employed on a dataset comprising five traits (birth weight-BW, weight at 90 days-W90, weight at 210 days-W210, cold carcass weight-CCW and conformation-CON) from the Pirenaica beef cattle breed. These phenotypic records were unequally distributed among 149,029 individuals and had a high percentage of missing data. The pedigree used consisted of 343,753 individuals. A Bayesian approach involving a multiple-trait mixed model was applied using a Gibbs sampler. The variance components obtained at each iteration of the Gibbs sampler were subsequently used to estimate the variance components within three distinct recursive models. CONCLUSIONS: The LDL' or block-LDL' transformations applied to the variance component estimates achieved from a multiple trait mixed model enabled inference across multiple sets of recursive models, with the sole prerequisite of being likelihood equivalent. Furthermore, the aforementioned transformations simplify the handling of missing data when conducting inference within the realm of recursive models.


Assuntos
Modelos Genéticos , Animais , Bovinos/genética , Teorema de Bayes , Fenótipo , Cruzamento/métodos , Cruzamento/normas , Peso ao Nascer/genética , Linhagem , Característica Quantitativa Herdável
18.
Am J Bot ; 111(5): e16349, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38783552

RESUMO

PREMISE: Leaf tensile resistance, a leaf's ability to withstand pulling forces, is an important determinant of plant ecological strategies. One potential driver of leaf tensile resistance is growing season length. When growing seasons are long, strong leaves, which often require more time and resources to construct than weak leaves, may be more advantageous than when growing seasons are short. Growing season length and other ecological conditions may also impact the morphological traits that underlie leaf tensile resistance. METHODS: To understand variation in leaf tensile resistance, we measured size-dependent leaf strength and size-independent leaf toughness in diverse genotypes of the widespread perennial grass Panicum virgatum (switchgrass) in a common garden. We then used quantitative genetic approaches to estimate the heritability of leaf tensile resistance and whether there were genetic correlations between leaf tensile resistance and other morphological traits. RESULTS: Leaf tensile resistance was positively associated with aboveground biomass (a proxy for fitness). Moreover, both measures of leaf tensile resistance exhibited high heritability and were positively genetically correlated with leaf lamina thickness and leaf mass per area (LMA). Leaf tensile resistance also increased with the growing season length in the habitat of origin, and this effect was mediated by both LMA and leaf thickness. CONCLUSIONS: Differences in growing season length may promote selection for different leaf lifespans and may explain existing variation in leaf tensile resistance in P. virgatum. In addition, the high heritability of leaf tensile resistance suggests that P. virgatum will be able to respond to climate change as growing seasons lengthen.


Assuntos
Folhas de Planta , Estações do Ano , Folhas de Planta/anatomia & histologia , Folhas de Planta/genética , Folhas de Planta/fisiologia , Folhas de Planta/crescimento & desenvolvimento , Panicum/genética , Panicum/fisiologia , Panicum/anatomia & histologia , Panicum/crescimento & desenvolvimento , Resistência à Tração , Biomassa , Fenótipo , Genótipo , Característica Quantitativa Herdável
19.
New Phytol ; 243(1): 111-131, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38708434

RESUMO

Leaf traits are essential for understanding many physiological and ecological processes. Partial least squares regression (PLSR) models with leaf spectroscopy are widely applied for trait estimation, but their transferability across space, time, and plant functional types (PFTs) remains unclear. We compiled a novel dataset of paired leaf traits and spectra, with 47 393 records for > 700 species and eight PFTs at 101 globally distributed locations across multiple seasons. Using this dataset, we conducted an unprecedented comprehensive analysis to assess the transferability of PLSR models in estimating leaf traits. While PLSR models demonstrate commendable performance in predicting chlorophyll content, carotenoid, leaf water, and leaf mass per area prediction within their training data space, their efficacy diminishes when extrapolating to new contexts. Specifically, extrapolating to locations, seasons, and PFTs beyond the training data leads to reduced R2 (0.12-0.49, 0.15-0.42, and 0.25-0.56) and increased NRMSE (3.58-18.24%, 6.27-11.55%, and 7.0-33.12%) compared with nonspatial random cross-validation. The results underscore the importance of incorporating greater spectral diversity in model training to boost its transferability. These findings highlight potential errors in estimating leaf traits across large spatial domains, diverse PFTs, and time due to biased validation schemes, and provide guidance for future field sampling strategies and remote sensing applications.


Assuntos
Folhas de Planta , Folhas de Planta/fisiologia , Folhas de Planta/anatomia & histologia , Análise dos Mínimos Quadrados , Característica Quantitativa Herdável , Clorofila/metabolismo , Estações do Ano , Modelos Biológicos , Água , Carotenoides/metabolismo
20.
New Phytol ; 243(2): 753-764, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38714871

RESUMO

Plants can evolve rapidly after pollinator changes, but the response of different floral traits to novel selection can vary. Floral morphology is often expected to show high integration to maintain pollination accuracy, while nectar traits can be more environmentally sensitive. The relative role of genetic correlations and phenotypic plasticity (PP) in floral evolution remains unclear, particularly for nectar traits, and can be studied in the context of recent pollinator changes. Digitalis purpurea shows rapid recent evolution of corolla morphology but not nectar traits following a range expansion with hummingbirds added as pollinators. We use this species to compare PP, heritability, evolvability and integration of floral morphology and nectar in a common garden. Morphological traits showed higher heritability than nectar traits, and the proximal section of the corolla, which regulates access to nectar and underwent rapid change in introduced populations, presented lower integration than the rest of the floral phenotype. Nectar was more plastic than morphology, driven by highly plastic sugar concentration. Nectar production rate showed high potential to respond to selection. These results explain the differential rapid evolution of floral traits previously observed in this species and show how intrafloral modularity determines variable evolutionary potential in morphological and nectar traits.


Assuntos
Evolução Biológica , Flores , Fenótipo , Néctar de Plantas , Polinização , Flores/anatomia & histologia , Flores/fisiologia , Polinização/fisiologia , Característica Quantitativa Herdável , Meio Ambiente , Animais , Aves/anatomia & histologia , Aves/fisiologia
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