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Genomic structural variants (SVs) constitute a significant proportion of genetic variation in the genome. The rapid development of long‐reads sequencing has facilitated the detection of long‐fragment SVs. There is no published study to detect SVs using long‐read data from sheep. We applied a long‐read mapping approach to detect SVs and characterized a total of 30,771 insertions, deletions, inversions and translocations. We identified 716, 916, 842 and 303 specific SVs in Southdown sheep, Alpine merino sheep, Qilian White Tibetan sheep and Oula sheep, respectively. We annotated these SVs and found that these SV‐related genes were primarily enriched in the well‐established pathways involved in the regulation of the immune system, growth and development and environmental adaptability. We detected and annotated SVs based on NGS resequencing data to validate the accuracy based on third‐generation detection. Moreover, five candidate SVs were verified using the PCR method in 50 sheep. Our study is the first to use a long‐reads sequencing approach to construct a novel structural variation map in sheep. We have completed a preliminary exploration of the potential effects of SVs on sheep. [ABSTRACT FROM AUTHOR]

Background: The Alpine Merino is a new breed of fine-wool sheep adapted to the cold and arid climate of the plateau in the world. It has been popularized in Northwest China due to its superior adaptability as well as excellent production performance. Those traits related to body weight, wool yield, and wool fiber characteristics, which are economically essential traits in Alpine Merino sheep, are controlled by QTL (Quantitative Trait Loci). Therefore, the identification of QTL and genetic markers for these key economic traits is a critical step in establishing a MAS (Marker-Assisted Selection) breeding program. Results: In this study, we constructed the high-density genetic linkage map of Alpine Merino sheep by sequencing 110 F1 generation individuals using WGR (Whole Genome Resequencing) technology. 14,942 SNPs (Single Nucleotide Polymorphism) were identified and genotyped. The map spanned 2,697.86 cM, with an average genetic marker interval of 1.44 cM. A total of 1,871 high-quality SNP markers were distributed across 27 linkage groups, with an average of 69 markers per LG (Linkage Group). Among them, the smallest genetic distance is 19.62 cM for LG2, while the largest is 237.19 cM for LG19. The average genetic distance between markers in LGs ranged from 0.24 cM (LG2) to 3.57 cM (LG17). The marker density in the LGs ranged from LG14 (39 markers) to LG1 (150 markers). Conclusions: The first genetic map of Alpine Merino sheep we constructed included 14,942 SNPs, while 46 QTLs associated with body weight, wool yield and wool fiber traits were identified, laying the foundation for genetic studies and molecular marker-assisted breeding. Notably, there were QTL intervals for overlapping traits on LG4 and LG8, providing potential opportunities for multi-trait co-breeding and further theoretical support for selection and breeding of ultra-fine and meaty Alpine Merino sheep. [ABSTRACT FROM AUTHOR]

Background: The quality and yield of wool determine the economic value of the fine-wool sheep. Therefore, discovering markers or genes relevant to wool traits is the cornerstone for the breeding of fine-wool sheep. In this study, we used the Illumina HiSeq X Ten platform to re-sequence 460 sheep belonging to four different fine-wool sheep breeds, namely, Alpine Merino sheep (AMS), Chinese Merino sheep (CMS), Aohan fine-wool sheep (AHS) and Qinghai fine-wool sheep (QHS). Eight wool traits, including fiber diameter (FD), fiber diameter coefficient of variance (FDCV), fiber diameter standard deviation (FDSD), staple length (SL), greasy fleece weight (GFW), clean wool rate (CWR), staple strength (SS) and staple elongation (SE) were examined. A genome-wide association study (GWAS) was performed to detect the candidate genes for the eight wool traits. Results: A total of 8.222 Tb of raw data was generated, with an average of approximately 8.59X sequencing depth. After quality control, 12,561,225 SNPs were available for analysis. And a total of 57 genome-wide significant SNPs and 30 candidate genes were detected for the desired wool traits. Among them, 7 SNPs and 6 genes are related to wool fineness indicators (FD, FDCV and FDSD), 10 SNPs and 7 genes are related to staple length, 13 SNPs and 7 genes are related to wool production indicators (GFW and CWR), 27 SNPs and 10 genes associated with staple elongation. Among these candidate genes, UBE2E3 and RHPN2 associated with fiber diameter, were found to play an important role in keratinocyte differentiation and cell proliferation. Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment results, revealed that multitude significant pathways are related to keratin and cell proliferation and differentiation, such as positive regulation of canonical Wnt signaling pathway (GO:0090263). Conclusion: This is the first GWAS on the wool traits by using re-sequencing data in Chinese fine-wool sheep. The newly detected significant SNPs in this study can be used in genome-selective breeding for the fine-wool sheep. And the new candidate genes would provide a good theoretical basis for the fine-wool sheep breeding. [ABSTRACT FROM AUTHOR]

Simple Summary: Wool is an important raw material in the textile industry. Its fiber fineness is directly related to the wool product quality. Higher quality wool products require finer wool fiber diameters. Therefore, methods for more effectively optimizing the wool fiber diameter have become an important research focus. Single nucleotide polymorphisms (SNPs) are efficient and stable molecular markers which have been extensively used to study wool fiber diameter. The SLIT3 and ZNF280B genes are involved in multiple biological processes and have multiple biological functions. However, the relationship between their polymorphisms and wool fiber diameter remains unreported. This study was conducted to investigate the relationship between different genotypes and wool fiber diameter by typing SNP sites in SLIT3 and ZNF280B. Our results revealed the major genotypes in the SLIT3 and ZNF280B genes which effect wool fiber diameter. These SNP sites may potentially be used as molecular marker sites for optimizing wool fiber diameter. The SLIT3 gene encodes a secreted protein, and the ZNF280B gene is a member of the transcription factor family. Both genes have multiple biological functions. This study was conducted to investigate the association between SLIT3 and ZNF280B gene polymorphisms and wool fiber diameter and to determine potential molecular marker sites for breeding sheep with fine wool. We used Kompetitive Allele-Specific PCR to type the single nucleotide polymorphism (SNP) loci in the SLIT3 and ZNF280B genes within 1081 Alpine Merino sheep and associated these SNPs with wool fiber diameter. The results revealed one SNP in SLIT3 and ZNF280B, which were each related to sheep fiber diameter. The wool fiber diameters of sheep with the CC genotype in SLIT3 g.478807C>G and AA genotype in ZNF280B g.677G>A were the smallest and differed significantly from the diameters of other genotypes (p < 0.05). These results suggest potential molecular marker sites for fine-wool sheep breeding. [ABSTRACT FROM AUTHOR]

Wool fiber is a textile material that is highly valued based on its diameter, which is crucial in determining its economic value. To analyze the molecular mechanisms regulating wool fiber diameter, we used a Data-independent acquisition-based quantitative proteomics approach to analyze the skin proteome of Alpine Merino sheep with four fiber diameter ranges. From three contrasts of defined groups, we identified 275, 229, and 190 differentially expressed proteins (DEPs). Further analysis using Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways revealed that pathways associated with cyclic adenosine monophosphate and peroxisome proliferator-activated receptor signaling are relevant to wool fiber diameter. Using the K-means method, we investigated the DEP expression patterns across wool diameter ranges. Using weighted gene co-expression network analysis, we identified seven key proteins (CIDEA, CRYM, MLX, TPST2, GPD1, GOPC, and CAMK2G) that may be involved in regulating wool fiber diameter. Our findings provide a theoretical foundation for identifying DEPs and pathways associated with wool fiber diameter in Alpine Merino sheep to enable a better understanding of the molecular mechanisms underlying the genetic regulation of wool fiber quality. [ABSTRACT FROM AUTHOR]

Simple Summary: Alpine Merino sheep are a new breed of sheep adapted to the cold and arid ecological zone 2400–4070 m above sea level; the breed has important economic significance for high-altitude areas. This study evaluated the effects of different dietary energy levels (9.7 MJ/kg, 10.1 MJ/kg, 10.5 MJ/kg) on the growth and meat quality of weaned Alpine Merino lambs. The results showed that compared with the low-energy diet (9.7 MJ/kg), the high-energy (10.5 MJ/kg) diet promoted the growth and development of lambs, increased the live weight and carcass weight of lambs before slaughter, significantly reduced the yellowness and redness scores of lamb muscles, and increased the meat's content of monounsaturated fatty acids. This experiment was conducted to study the effects of dietary energy level on the growth performance and meat quality of weaned Alpine Merino lambs. The study ran for a total of 104 days (20-day pretrial, 84-day trial). From three groups of test lambs, we randomly selected ten lambs per group to determine slaughter performance, meat quality characteristics, and organ indexes. The slaughter performances of the lambs improved as the dietary energy level increased. The live weight before the slaughter of the lambs was significantly higher in the high group than in the low and medium groups. The carcass weight was significantly higher in the high group than in the low group. Dietary energy level had little effect on the organ weight of lambs. Meat quality differed among the three dietary energy levels. The muscle yellowness and redness scores decreased significantly as the energy levels increased. The C18:0, C21:0, C20:1, C18:2n6c, and C20:2 contents in the muscle were significantly higher in the high group than in the medium and low groups. The C18:3n6 content in the muscle was significantly higher in the low group than in the medium group. The C20:5n3 content in the longissimus dorsi was significantly higher in the high group than in the medium and low groups. The monounsaturated and unsaturated fatty acid contents in the muscle were significantly higher in the high group than in the low group. A dietary energy level of 10.5 MJ/kg is suitable for fattening weaned male Alpine Merino lambs. [ABSTRACT FROM AUTHOR]

Simple Summary: Mining SNPs or genes associated with important traits is important for fine-wool sheep breeding. We screened 20 SNPs associated with important traits of Alpine Merino sheep, such as birth weight, bundle strength, cleaning rate, and fiber diameter, of which 8 were monomorphic locis and 12 were polymorphic locis. These findings provide a theoretical basis for genomic selection and molecular breeding. SNPs associated with important traits of fine-wool sheep that were previously obtained through genome-wide association analysis screening were verified and analyzed. A total of 20 SNPs related to birth weight, bundle strength, cleaning rate, and fiber diameter were screened using whole-genome resequencing, and the SNPshot assay was used to detect and analyze polymorphisms. This study found that, among the 20 SNPs associated with important traits in Alpine Merino sheep, 8 were monomorphic and 12 were polymorphic, of which 6 showed moderate polymorphisms and 6 showed low polymorphisms. The heterozygosity of the 12 polymorphic loci ranged from 0.10 to 0.49, the effective number of alleles ranged from 1.11 to 1.98, and the polymorphic information content ranged from 0.09 to 0.37. The chi-square test showed that only RHPN2:g.42678119T>G and RALYL:g.90030866A>G were in Hardy–Weinberg disequilibrium (p < 0.05); the other loci were in equilibrium (p > 0.05). These SNPs associated with important traits in Alpine Merino sheep provide a theoretical basis for genomic selection and molecular design breeding. [ABSTRACT FROM AUTHOR]

Simple Summary: The weight features of Alpine Merino Sheep, particularly their live weight in the 14th month (WT), are crucial in production and breeding, as they live at high altitudes and in highland areas where oxygen is scarce. Genome selection (GS) offers the advantages of minimizing breeding costs and generational intervals, and the main objective of genome selection breeding is the accuracy of GS. Genome-wide association studies (GWASs) were used in this study to extract the variation information related to the 14-month-old body weight trait of Alpine Merino Sheep, identify candidate genes associated with this trait, and employ GWAS results as prior information to conduct GS research on the trait to determine the most suitable GS breeding model for the target trait. Alpine Merino Sheep is a novel breed reared from Australian Merino Sheep as the father and Gansu Alpine Fine-Wool Sheep as the mother, living all year in cold and arid alpine areas with exceptional wool quality and meat performance. Body weight is an important economic trait of the Alpine Merino Sheep, but there is limited research on identifying the genes associated with live weight in the 14th month for improving the accuracy of the genomic prediction of this trait. Therefore, this study's sample comprised 1310 Alpine Merino Sheep ewes, and the Fine Wool Sheep 50K Panel was used for genome-wide association study (GWAS) analysis to identify candidate genes. Moreover, the trial population (1310 ewes) in this study was randomly divided into two groups. One group was used as the population for GWAS analysis and screened for the most significant top 5%, top 10%, top 15%, and top 20% SNPs to obtain prior marker information. The other group was used to estimate the genetic parameters based on the weight assigned by heritability combined with different prior marker information. The aim of this study was to compare the accuracy of genomic breeding value estimation when combined with prior marker information from GWAS analysis with the optimal linear unbiased prediction method for genome selection (GBLUP) for the breeding value of target traits. Finally, the accuracy was evaluated using the five-fold cross-validation method. This research provides theoretical and technical support to improve the accuracy of sheep genome selection and better guide breeding. The results demonstrated that eight candidate genes were associated with GWAS analysis, and the gene function query and literature search results suggested that FAM184B, NCAPG, MACF1, ANKRD44, DCAF16, FUK, LCORL, and SYN3 were candidate genes affecting live weight in the 14th month (WT), which regulated the growth of muscle and bone in sheep. In genome selection analysis, the heritability of GBLUP to calculate the WT was 0.335–0.374, the accuracy after five-fold cross-verification was 0.154–0.190, and after assigning different weights to the top 5%, top 10%, top 15%, and top 20% of the GWAS results in accordance with previous information to construct the G matrix, the accuracy of the WT in the GBLUP model was improved by 2.59–7.79%. [ABSTRACT FROM AUTHOR]