• 제목/요약/키워드: Effective Population Size ($N_e$)

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Estimation of Effective Population Size in the Sapsaree: A Korean Native Dog (Canis familiaris)

  • Alam, M.;Han, K.I.;Lee, D.H.;Ha, J.H.;Kim, J.J.
    • Asian-Australasian Journal of Animal Sciences
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    • 제25권8호
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    • pp.1063-1072
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    • 2012
  • Effective population size ($N_e$) is an important measure to understand population structure and genetic variability in animal species. The objective of this study was to estimate $N_e$ in Sapsaree dogs using the information of rate of inbreeding and genomic data that were obtained from pedigree and the Illumina CanineSNP20 (20K) and CanineHD (170K) beadchips, respectively. Three SNP panels, i.e. Sap134 (20K), Sap60 (170K), and Sap183 (the combined panel from the 20K and 170K), were used to genotype 134, 60, and 183 animal samples, respectively. The $N_e$ estimates based on inbreeding rate ranged from 16 to 51 about five to 13 generations ago. With the use of SNP genotypes, two methods were applied for $N_e$ estimation, i.e. pair-wise $r^2$ values using a simple expectation of distance and $r^2$ values under a non-linear regression with respective distances assuming a finite population size. The average pair-wise $N_e$ estimates across generations using the pairs of SNPs that were located within 5 Mb in the Sap134, Sap60, and Sap183 panels, were 1,486, 1,025 and 1,293, respectively. Under the non-linear regression method, the average $N_e$ estimates were 1,601, 528, and 1,129 for the respective panels. Also, the point estimates of past $N_e$ at 5, 20, and 50 generations ago ranged between 64 to 75, 245 to 286, and 573 to 646, respectively, indicating a significant $N_e$ reduction in the last several generations. These results suggest a strong necessity for minimizing inbreeding through the application of genomic selection or other breeding strategies to increase $N_e$, so as to maintain genetic variation and to avoid future bottlenecks in the Sapsaree population.

Extent of linkage disequilibrium and effective population size of Korean Yorkshire swine

  • Shin, Donghyun;Won, Kyeong-Hye;Kim, Sung-Hoon;Kim, Yong-Min
    • Asian-Australasian Journal of Animal Sciences
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    • 제31권12호
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    • pp.1843-1851
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    • 2018
  • Objective: We aimed to characterize linkage disequilibrium (LD) and effective population size ($N_e$) in a Korean Yorkshire population using genomic data from thousands of individuals. Methods: We genotyped 2,470 Yorkshire individuals from four major Grand-Grand-Parent farms in Korea using the Illumina PorcineSNP60 version2 BeadChip, which covers >61,565 single nucleotide polymorphisms (SNPs) located across all chromosomes and mitochondria. We estimated the expected LD and inferred current $N_e$ as well as ancestral $N_e$. Results: We identified 61,565 SNP from autosomes, mitochondria, and sex chromosomes and characterized the LD of the Yorkshire population, which was relatively high between closely linked markers (>0.55 at 50 kb) and declined with increasing genetic distance. The current $N_e$ of this Korean Yorkshire population was 122.87 (106.90; 138.84), while the historical $N_e$ of Yorkshire pigs suggests that the ancestor $N_e$ has decreased by 99.6% over the last 10,000 generations. Conclusion: To maintain genetic diversity of a domesticated animal population, we must carefully consider appropriate breed management methods to avoid inbreeding. Although attenuated selection can affect short-term genetic gain, it is essential for maintaining the long-term genetic variability of the Korean Yorkshire population. Continuous and long-term monitoring would also be needed to maintain the pig population to avoid an unintended reduction of $N_e$. The best way to preserve a sustainable population is to maintain a sufficient $N_e$.

Accurate Estimation of Effective Population Size in the Korean Dairy Cattle Based on Linkage Disequilibrium Corrected by Genomic Relationship Matrix

  • Shin, Dong-Hyun;Cho, Kwang-Hyun;Park, Kyoung-Do;Lee, Hyun-Jeong;Kim, Heebal
    • Asian-Australasian Journal of Animal Sciences
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    • 제26권12호
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    • pp.1672-1679
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    • 2013
  • Linkage disequilibrium between markers or genetic variants underlying interesting traits affects many genomic methodologies. In many genomic methodologies, the effective population size ($N_e$) is important to assess the genetic diversity of animal populations. In this study, dairy cattle were genotyped using the Illumina BoviveHD Genotyping BeadChips for over 777,000 SNPs located across all autosomes, mitochondria and sex chromosomes, and 70,000 autosomal SNPs were selected randomly for the final analysis. We characterized more accurate linkage disequilibrium in a sample of 96 dairy cattle producing milk in Korea. Estimated linkage disequilibrium was relatively high between closely linked markers (>0.6 at 10 kb) and decreased with increasing distance. Using formulae that related the expected linkage disequilibrium to $N_e$, and assuming a constant actual population size, $N_e$ was estimated to be approximately 122 in this population. Historical $N_e$, calculated assuming linear population growth, was suggestive of a rapid increase $N_e$ over the past 10 generations, and increased slowly thereafter. Additionally, we corrected the genomic relationship structure per chromosome in calculating $r^2$ and estimated $N_e$. The observed $N_e$ based on $r^2$ corrected by genomics relationship structure can be rationalized using current knowledge of the history of the dairy cattle breeds producing milk in Korea.

Linkage Disequilibrium and Effective Population Size in Hanwoo Korean Cattle

  • Lee, S.H.;Cho, Y.M.;Lim, D.;Kim, H.C.;Choi, B.H.;Park, H.S.;Kim, O.H.;Kim, S.;Kim, T.H.;Yoon, D.;Hong, S.K.
    • Asian-Australasian Journal of Animal Sciences
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    • 제24권12호
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    • pp.1660-1665
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    • 2011
  • This study presents a linkage disequilibrium (LD) analysis and effective population size ($N_e$) for the entire Hanwoo Korean cattle genome, which is the first LD map and effective population size estimate ever calculated for this breed. A panel of 4,525 markers was used in the final LD analysis. The pairwise $r^2$ statistic of SNPs up to 50 Mb apart across the genome was estimated. A mean value of $r^2$ = 0.23 was observed in pairwise distances of <25 kb and dropped to 0.1 at 40 to 60 kb, which is similar to the average intermarker distance used in this study. The proportion of SNPs in useful LD ($r^2{\geq}0.25$) was 20% for the distance of 10 and 20 kb between SNPs. Analyses of past effective population size estimates based on direct estimates of recombination rates from SNP data demonstrated that a decline in effective population size to $N_e$ = 98.1 occurred up to three generations ago.

Comparative assessment of the effective population size and linkage disequilibrium of Karan Fries cattle revealed viable population dynamics

  • Shivam Bhardwaj;Oshin Togla;Shabahat Mumtaz;Nistha Yadav;Jigyasha Tiwari;Lal Muansangi;Satish Kumar Illa;Yaser Mushtaq Wani;Sabyasachi Mukherjee;Anupama Mukherjee
    • Animal Bioscience
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    • 제37권5호
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    • pp.795-806
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    • 2024
  • Objective: Karan Fries (KF), a high-producing composite cattle was developed through crossing indicine Tharparkar cows with taurine bulls (Holstein Friesian, Brown Swiss, and Jersey), to increase the milk yield across India. This composite cattle population must maintain sufficient genetic diversity for long-term development and breed improvement in the coming years. The level of linkage disequilibrium (LD) measures the influence of population genetic forces on the genomic structure and provides insights into the evolutionary history of populations, while the decay of LD is important in understanding the limits of genome-wide association studies for a population. Effective population size (Ne) which is genomically based on LD accumulated over the course of previous generations, is a valuable tool for e valuation of the genetic diversity and level of inbreeding. The present study was undertaken to understand KF population dynamics through the estimation of Ne and LD for the long-term sustainability of these breeds. Methods: The present study included 96 KF samples genotyped using Illumina HDBovine array to estimate the effective population and examine the LD pattern. The genotype data were also obtained for other crossbreds (Santa Gertrudis, Brangus, and Beefmaster) and Holstein Friesian cattle for comparison purposes. Results: The average LD between single nucleotide polymorphisms (SNPs) was r2 = 0.13 in the present study. LD decay (r2 = 0.2) was observed at 40 kb inter-marker distance, indicating a panel with 62,765 SNPs was sufficient for genomic breeding value estimation in KF cattle. The pedigree-based Ne of KF was determined to be 78, while the Ne estimates obtained using LD-based methods were 52 (SNeP) and 219 (genetic optimization for Ne estimation), respectively. Conclusion: KF cattle have an Ne exceeding the FAO's minimum recommended level of 50, which was desirable. The study also revealed significant population dynamics of KF cattle and increased our understanding of devising suitable breeding strategies for long-term sustainable development.

Genetic diversity evolution in the Mexican Charolais cattle population

  • Rios-Utrera, Angel;Montano-Bermudez, Moises;Vega-Murillo, Vicente Eliezer;Martinez-Velazquez, Guillermo;Baeza-Rodriguez, Juan Jose;Roman-Ponce, Sergio Ivan
    • Animal Bioscience
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    • 제34권7호
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    • pp.1116-1122
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    • 2021
  • Objective: The aim was to characterize the genetic diversity evolution of the registered Mexican Charolais cattle population by pedigree analysis. Methods: Data consisted of 331,390 pedigree records of animals born from 1934 to 2018. Average complete generation equivalent, generation interval, effective population size (Ne), and effective numbers of founders (fe), ancestors (fa), and founder genomes (Ng) were calculated for seven five-year periods. The inbreeding coefficient was calculated per year of birth, from 1984 to 2018, whereas the gene contribution of the most influential ancestors was calculated for the latter period. Results: Average complete generation equivalent consistently increased across periods, from 4.76, for the first period (1984 through 1988), to 7.86, for the last period (2014 through 2018). The inbreeding coefficient showed a relative steadiness across the last seventeen years, oscillating from 0.0110 to 0.0145. During the last period, the average generation interval for the father-offspring pathways was nearly 1 yr. longer than that of the mother-offspring pathways. The effective population size increased steadily since 1984 (105.0) and until 2013 (237.1), but showed a minor decline from 2013 to 2018 (233.2). The population displayed an increase in the fa since 1984 and until 2008; however, showed a small decrease during the last decade. The effective number of founder genomes increased from 1984 to 2003, but revealed loss of genetic variability during the last fifteen years (from 136.4 to 127.7). The fa:fe ratio suggests that the genetic diversity loss was partially caused by formation of genetic bottlenecks in the pedigree; in addition, the Ng:fa ratio indicates loss of founder alleles due to genetic drift. The most influential ancestor explained 1.8% of the total genetic variability in the progeny born from 2014 to 2018. Conclusion: Inbreeding, Ne, fa, and Ng are rather beyond critical levels; therefore, the current genetic status of the population is not at risk.

Analysis of genetic characteristics of pig breeds using information on single nucleotide polymorphisms

  • Lee, Sang-Min;Oh, Jae-Don;Park, Kyung-Do;Do, Kyoung-Tag
    • Asian-Australasian Journal of Animal Sciences
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    • 제32권4호
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    • pp.485-493
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    • 2019
  • Objective: This study was undertaken to investigate the genetic characteristics of Berkshire (BS), Landrace (LR), and Yorkshire (YS) pig breeds raised in the Great Grandparents pig farms using the single nucleotide polymorphisms (SNP) information. Methods: A total of 25,921 common SNP genotype markers in three pig breeds were used to estimate the expected heterozygosity ($H_E$), polymorphism information content, F-statistics ($F_{ST}$), linkage disequilibrium (LD) and effective population size ($N_e$). Results: The chromosome-wise distribution of $F_{ST}$ in BS, LR, and YS populations were within the range of 0-0.36, and the average $F_{ST}$ value was estimated to be $0.07{\pm}0.06$. This result indicated some level of genetic segregation. An average LD ($r^2$) for the BS, LR, and YS breeds was estimated to be approximately 0.41. This study also found an average $N_e$ of 19.9 (BS), 31.4 (LR), and 34.1 (YS) over the last 5th generations. The effective population size for the BS, LR, and YS breeds decreased at a consistent rate from 50th to 10th generations ago. With a relatively faster $N_e$ decline rate in the past 10th generations, there exists possible evidence for intensive selection practices in pigs in the recent past. Conclusion: To develop customized chips for the genomic selection of various breeds, it is important to select and utilize SNP based on the genetic characteristics of each breed. Since the improvement efficiency of breed pigs increases sharply by the population size, it is important to increase test units for the improvement and it is desirable to establish the pig improvement network system to expand the unit of breed pig improvement through the genetic connection among breed pig farms.

Estimation of Effective Population Size in a Clonal Seed Orchard of Chamaecyparis obtusa

  • Kang, K.S.;Son, S.G;Kim, C.S.
    • Journal of Korean Society of Forest Science
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    • 제96권5호
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    • pp.528-532
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    • 2007
  • Clonal differences in fertility (expressed as the number of female and male strobili) were determined for five consecutive years (2002-2006) in a clonal seed orchard of Chamaecyparis obtusa. Fertility varied among clones and among years with producing five-year averages of 378.8 and 871.2 for female and male strobili per ramet, respectively. Correlation between female and male strobilus production was positive over the five years and statistically significant. Based on the observed fertility variation, the effective population sizes (estimated by status numbers, $N_e$) were calculated and varied from 24.3 to 47.9 (48.6% to 95.8% of census number, N) among the five studied years. On average (pooled), the relative effective population size was 82% of the N. Variation in female fertility was higher than that in male fertility, and this variation was reflected on female and male parents' status numbers. Pooled $N_e$ estimated from the five years was higher than that from poor seed production years. From our results, it was concluded that genetic diversity collected from good flowering years would be higher than that from poor flowering years.

Estimation of effective population size using single-nucleotide polymorphism (SNP) data in Jeju horse

  • Do, Kyoung-Tag;Lee, Joon-Ho;Lee, Hak-Kyo;Kim, Jun;Park, Kyung-Do
    • Journal of Animal Science and Technology
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    • 제56권8호
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    • pp.28.1-28.6
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    • 2014
  • This study was conducted to estimate the effective population size using SNPs data of 240 Jeju horses that had raced at the Jeju racing park. Of the total 61,746 genotyped autosomal SNPs, 17,320 (28.1%) SNPs (missing genotype rate of >10%, minor allele frequency of <0.05 and Hardy-Weinberg equilibrium test P-value of < $10^{-6}$) were excluded after quality control processes. SNPs on the X and Y chromosomes and genotyped individuals with missing genotype rate over 10% were also excluded, and finally, 44,426 (71.9%) SNPs were selected and used for the analysis. The measures of the LD, square of correlation coefficient ($r^2$) between SNP pairs, were calculated for each allele and the effective population size was determined based on $r^2$ measures. The polymorphism information contents (PIC) and expected heterozygosity (HE) were 0.27 and 0.34, respectively. In LD, the most rapid decline was observed over the first 1 Mb. But $r^2$ decreased more slowly with increasing distance and was constant after 2 Mb of distance and the decline was almost linear with log-transformed distance. The average $r^2$ between adjacent SNP pairs ranged from 0.20 to 0.31 in each chromosome and whole average was 0.26, while the whole average $r^2$ between all SNP pairs was 0.02. We observed an initial pattern of decreasing $N_e$ and estimated values were closer to 41 at 1 ~ 5 generations ago. The effective population size (41 heads) estimated in this study seems to be large considering Jeju horse's population size (about 2,000 heads), but it should be interpreted with caution because of the technical limitations of the methods and sample size.

Characterization analysis of Rongchang pig population based on the Zhongxin-1 Porcine Breeding Array PLUS

  • Dong Leng;Liangpeng Ge;Jing Sun
    • Animal Bioscience
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    • 제36권10호
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    • pp.1508-1516
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    • 2023
  • Objective: To carry out a comprehensive production planning of the existing Rongchang pig population from both environmental and genetic aspects, and to establish a closed population with stable genetic diversity and strict pathogen control, it is necessary to fully understand the genetic background of the population. Methods: We genotyped 54 specific pathogen free (SPF) Rongchang pigs using the Zhongxin-1 Porcine Breeding Array PLUS, calculated their genetic diversity parameters and constructed their families. In addition, we also counted the runs of homozygosity (ROH) of each individual and calculated the value of inbreeding coefficient based on ROH for each individual. Results: Firstly, the results of genetic diversity analysis showed that the effective population size (Ne) of this population was 3.2, proportion of polymorphic markers (PN) was 0.515, desired heterozygosity (He) and observed heterozygosity (Ho) were 0.315 and 0.335. Ho was higher than He, indicating that the heterozygosity of all the selected loci was high. Secondly, combining the results of genomic relatedness analysis and cluster analysis, it was found that the existing Rongchang pig population could be divided into four families. Finally, we also counted the ROH of each individual and calculated the inbreeding coefficient value accordingly, whose mean value was 0.09. Conclusion: Due to the limitation of population size and other factors, the genetic diversity of this Rongchang pig population is low. The results of this study can provide basic data to support the development of Rongchang pig breeding program, the establishment of SPF Rongchang pig closed herd and its experimental utilization.