Genome-wide association studies for economically important traits in mink using copy number variation.

Copy number variations (CNVs) are structural variants consisting of duplications and deletions of DNA segments, which are known to play important roles in the genetics of complex traits in livestock species. However, CNV-based genome-wide association studies (GWAS) have remained unexplored in American mink. Therefore, the purpose of the current study was to investigate the association between CNVs and complex traits in American mink. A CNV-based GWAS was performed with the ParseCNV2 software program using deregressed estimated breeding values of 27 traits as pseudophenotypes, categorized into traits of growth and feed efficiency, reproduction, pelt quality, and Aleutian disease tests. The study identified a total of 10,137 CNVs (6968 duplications and 3169 deletions) using the Affymetrix Mink 70K single nucleotide polymorphism (SNP) array in 2986 American mink. The association analyses identified 250 CNV regions (CNVRs) associated with at least one of the studied traits. These CNVRs overlapped with a total of 320 potential candidate genes, and among them, several genes have been known to be related to the traits such as ARID1B, APPL1, TOX, and GPC5 (growth and feed efficiency traits); GRM1, RNASE10, WNT3, WNT3A, and WNT9B (reproduction traits); MYO10, and LIMS1 (pelt quality traits); and IFNGR2, APEX1, UBE3A, and STX11 (Aleutian disease tests). Overall, the results of the study provide potential candidate genes that may regulate economically important traits and therefore may be used as genetic markers in mink genomic breeding programs.

Genetic and Phenotypic Parameters for Pelt Quality and Body Length and Weight Traits in American Mink.

Understanding the genetics of fur characteristics and skin size is important for developing effective breeding programs in the mink industry. Therefore, the objectives of this study were to estimate the genetic and phenotypic parameters for pelt quality traits including live grading overall quality (LQU), live grading nap size (LNAP), dried pelt size (DPS), dried pelt nap size (DNAP) and overall quality of dried pelt (DQU), and body length and weight traits, including November body weight (Nov_BW), November body length (Nov_BL), harvest weight (HW) and harvest length (HL) in American mink. Dried pelt quality traits on 1195 mink and pelt quality traits on live animals on 1680 were collected from mink raised at two farms, in Nova Scotia and Ontario. A series of univariate analyses were implemented in ASReml 4.1 software to identify the significance (p < 0.05) of random effects (maternal genetic effects, and common litter effects) and fixed effects (farm, sex, color type, year, and age) for each trait. Subsequently, bivariate models were used to estimate the genetic and phenotypic parameters using ASReml 4.1. Heritability (±SE) estimates were 0.41 ± 0.06 for DPS, 0.23 ± 0.10 for DNAP, 0.12 ± 0.04 for DQU, 0.28 ± 0.06 for LQU, 0.44 ± 0.07 for LNAP, 0.29 ± 0.10 for Nov_BW, 0.28 ± 0.09 for Nov_BL, 0.41 ± 0.07 for HW and 0.31 ± 0.06 for HL. DPS had high positive genetic correlations (±SE) with Nov_BW (0.89 ± 0.10), Nov_BL (0.81 ± 0.07), HW (0.85 ± 0.05) and HL (0.85 ± 0.06). These results suggested that body weight and length measured on live animals in November of the first year were reliable indicators of dried pelt size. DQU had favorable genetic correlations with Nov_BL (0.55 ± 0.24) and HL (0.46 ± 0.20), and nonsignificant genetic correlations with DNAP (0.13 ± 0.25), Nov_BW (0.25 ± 0.25) and HW (0.06 ± 0.20), which made body length traits an appealing trait for selection for increased pelt size. High positive genetic correlation (±SE) was observed between LNAP and DNAP (0.82 ± 0.22), which revealed that nap size measurement on live animals is a reliable indicator trait for dried pelt nap size. However, nonsignificant (p > 0.05) low genetic correlation (±SE) was obtained between LQU and DQU (0.08 ± 0.45), showing that indirect selection based on live grading might not lead to the satisfactory improvement of dried pelt overall quality. The estimated genetic parameters for live grading, dried pelt quality, and body weight and body length traits may be incorporated into breeding programs to improve fur characteristics in Canadian mink populations.

Genome-Wide Detection of Selection Signatures for Pelt Quality Traits and Coat Color Using Whole-Genome Sequencing Data in American Mink.

Domestication and selection are the major driving forces responsible for creating genetic variability in farmed species. American mink has been under selection for more than 100 years for improved body size and pelt quality. This study aimed to identify the genomic regions subjected to selection for pelt quality traits, and coat color using the whole genome sequences of 100 mink raised in the Canadian Centre for Fur Animal Research (CCFAR) at Dalhousie Agriculture Campus (Truro, NS, Canada), and Millbank fur farm (Rockwood, ON, Canada). Measurements of three dried pelt characteristics (including pelt size (n = 35), overall quality of fur (n = 27), and nap size (n = 29)), and three coat color of Black, Stardust, and Pastel (Stardust_ Black (n = 38), and Pastel_Black (n = 41)) were used to assign animals to pairwise groups. Signatures of selection were detected using integrated measurement of fixation index (Fst), extended haplotype homozygosity (XP-EHH), and nucleotide diversity (θπ) tests. In total, overlapping top 1% of Fst and XP-EHH harbored 376 genes for pelt quality traits (110 for nap size, 163 for overall quality of fur, and 98 pelt size), and 194 genes for coat color (123 for Pastel_Black and 71 for Stardust_Black) were detected in different groups. Integrating results of Fst, and XP-EHH with the θπ test supported 19 strongly selected regions on chromosomes 3, 4, 5, 6, 7, 8, 9, and 10 that contained 33 candidate genes related to fur quality, hair follicle function, and pelt size traits. Gene ontology revealed numerous genes related to the hair cycle process and molting cycle process, epidermis development, Wnt signaling pathway and muscle development. This study provided the first map of putative selection signals related to pelt quality and coat color in American mink, which could be used as a reference for future studies attempting to identify genes associated with economically important traits in mink.

Genome-wide detection of copy number variation in American mink using whole-genome sequencing.

BACKGROUND: Copy number variations (CNVs) represent a major source of genetic diversity and contribute to the phenotypic variation of economically important traits in livestock species. In this study, we report the first genome-wide CNV analysis of American mink using whole-genome sequence data from 100 individuals. The analyses were performed by three complementary software programs including CNVpytor, DELLY and Manta. RESULTS: A total of 164,733 CNVs (144,517 deletions and 20,216 duplications) were identified representing 5378 CNV regions (CNVR) after merging overlapping CNVs, covering 47.3 Mb (1.9%) of the mink autosomal genome. Gene Ontology and KEGG pathway enrichment analyses of 1391 genes that overlapped CNVR revealed potential role of CNVs in a wide range of biological, molecular and cellular functions, e.g., pathways related to growth (regulation of actin cytoskeleton, and cAMP signaling pathways), behavior (axon guidance, circadian entrainment, and glutamatergic synapse), lipid metabolism (phospholipid binding, sphingolipid metabolism and regulation of lipolysis in adipocytes), and immune response (Wnt signaling, Fc receptor signaling, and GTPase regulator activity pathways). Furthermore, several CNVR-harbored genes associated with fur characteristics and development (MYO5A, RAB27B, FGF12, SLC7A11, EXOC2), and immune system processes (SWAP70, FYN, ORAI1, TRPM2, and FOXO3). CONCLUSIONS: This study presents the first genome-wide CNV map of American mink. We identified 5378 CNVR in the mink genome and investigated genes that overlapped with CNVR. The results suggest potential links with mink behaviour as well as their possible impact on fur quality and immune response. Overall, the results provide new resources for mink genome analysis, serving as a guideline for future investigations in which genomic structural variations are present.