Pedigree analysis of genetic subdivision in a population of Japanese Black cattle

Twenty‐five subpopulations (i.e. populations of prefectures) of more than 2000 Japanese Black cows younger than or equal to 10 years of age were analyzed to evaluate the genetic relationships in the current population. The total number of cows analyzed was 392 346 and their pedigrees were traced back to 1944 or before. Using the pedigree records, the genetic relationships among the subpopulations were estimated by the two different measurements: (i) the average additive relationship coefficients and (ii) Nei's standard genetic distances. Principal component analysis (PCA) was performed to the matrix of the average additive relationship coefficients, and the factor loadings of subpopulations were plotted on the plane to visualize the genetic configuration of subpopulations. To understand the grouping process of the subpopulations, cluster analysis was applied to the matrix of the Nei's genetic distances, and a dendrogram was constructed. There was a high consistency between the results from PCA and cluster analysis. Eight subpopulations with relatively low migration rates showed their unique genetic compositions, and the other 17 subpopulations with high migration rates formed a single cluster. The major cause of the genetic similarity among the 17 subpopulations was inferred to be the strong genetic influence from one subpopulation (Hyogo prefecture) with prominent characteristics for meat quality.     

Genetic structure of the European Charolais and Limousin cattle metapopulations using pedigree analyses

Pedigree collected by the Interbeef service allowed genetic diversity to be assessed by using pedigree analyses for the European Charolais (CHA) and Limousin (LIM) cattle populations registered in national herdbooks in Denmark (DNK), France (FRA), Ireland (IRL), Sweden (SWE), and, solely for the LIM breed, the United Kingdom (UK). The CHA data set included 2,563,189 calves with weaning performance, of which 96.1% were recorded in FRA, 3.0% in SWE, 0.5% in IRL, and 0.4% in DNK. The LIM data set included 1,652,734 calves with weaning performance, of which 91.9% were recorded in FRA, 4.9% in UK, 1.8% in DNK, 0.9% SWE, and 0.5% in IRL. Pedigree files included 3,191,132 CHA and 2,409,659 LIM animals. Gene flows were rather limited between populations, except from FRA toward other countries. Pedigree completeness was good in all subpopulations for both breeds and allowed the pedigree to be traced back to the French population. A relatively high level of genetic diversity was assessed in each CHA and LIM subpopulation by estimating either effective population sizes (N(e) >244 and N(e) >345 in the CHA and LIM subpopulations, respectively), relationship coefficients within subpopulations (<1.3% in both breeds), or probability of gene origins. However, in each subpopulation, it was shown that founders and also ancestors had unbalanced genetic contributions, leading to a moderate but continuous reduction in genetic diversity. Analyses between populations suggested that all European CHA and LIM populations were differentiated very little. The Swedish CHA population was assessed as genetically more distant from the other CHA populations because of fewer gene flows from other countries and because of the use of North American sires to introgress the polled phenotype. In each European subpopulation, most of the main ancestors, which explained 50% of gene origin, were born in FRA. However, those main ancestors were different between countries. Moreover, in both breeds, the main ancestors, which explained 50% of the gene origin in DNK, IRL, SWE, and UK for the LIM breed, were found to be infrequently used in FRA. Those results were consistent with the low relationship coefficients estimated between subpopulations (<0.6% in both the CHA and LIM breeds). Therefore, in both breeds, each subpopulation may constitute a reservoir of genetic diversity for the other ones.     

Genetic diversity and genomic inbreeding in Japanese Black cows in the islands of Okinawa Prefecture evaluated using single-nucleotide polymorphism array

Maintaining genetic diversity and inbreeding control are important in Japanese Black cattle production, especially in remote areas such as the islands of Okinawa Prefecture. Using a single-nucleotide polymorphism (SNP) array, we evaluated the genetic diversity and genomic inbreeding in Japanese Black cows from the islands of Okinawa Prefecture and compared them to those from other locations across Japan. Linkage disequilibrium decay was slower in cows in the islands of Okinawa Prefecture. The estimated effective population size declined over time in both populations. The genomic inbreeding coefficient (F_ROH) was estimated using long stretches of consecutive homozygous SNPs (runs of homozygosity; ROH). F_ROH was higher in the cows on the islands of Okinawa Prefecture than on other locations. In total, 818 ROH fragments, including those containing NCAPG and PLAG1, which are major quantitative trait loci for carcass weight in Japanese Black cattle, were present at significantly higher frequencies in cows in the islands of Okinawa Prefecture. This suggests that the ROH fragments are under strong selection and that cows in the islands of Okinawa Prefecture have low genetic diversity and high genomic inbreeding relative to those at other locations. SNP arrays are useful tools for evaluating genetic diversity and genomic inbreeding in cattle.     

Development of DNA markers for improvement of meat quality in a Japanese Black cattle population in Hyogo Prefecture

The polymorphisms associated with economic traits in livestock animals provide useful information as genetic indicators for breeding improvement. Over the last two decades, several DNA markers have been developed in Japanese Black cattle; however, the effect of these markers differs across populations due to differences in their genetic structures and backgrounds. As such, there is a need to verify the effectiveness of these markers in each population. This review summarizes the effectiveness of previously reported markers on carcass traits and the development of novel DNA markers in a Japanese Black cattle population in Hyogo Prefecture. As result of genome wide association studies and resequencing analyses, two novel significant markers associated with meat quality-related traits (beef marbling and fatty acid composition) were developed. These findings will lead to the identification of responsible genes and polymorphisms and contribute to the development of novel DNA markers for numerous traits in various cattle populations.     

Conservation of genetic diversity in the Japanese Black cattle population by the construction of partially isolated lines

In the Japanese Black cattle population, five genetically divergent subpopulations have played important roles as suppliers of breeding stocks to the entire breed. We supposed a situation where five lines were constructed from each of the five subpopulations, and applied to this set of lines a management plan to conserve genetic diversity. Assuming that the male migration pattern among the lines followed the island model, we assessed the optimum male migration rate and required male numbers in each line, satisfying the following three conditions simultaneously: (i) the rate of inbreeding in each line was below 0.01 per generation; (ii) at least 97% of the initial genetic diversity was preserved after 10 generations; and (iii) more than 50% of the genes in an initial line were retained in the line after 10 generations. We found that approximately one breeding male should be selected per year and one breeding male should be exchanged among the lines per generation in each line to satisfy these three conditions. Numerical analysis with the migration rates actually observed among the five subpopulations demonstrated that the initial genetic differentiation among the lines was rapidly decayed by an asymmetrical migration pattern. For a successful plan, migration among lines should be strictly managed.     

Low mitochondrial DNA diversity of Japanese Polled and Kuchinoshima feral cattle

This study aims to estimate the mitochondrial genetic diversity and structure of Japanese Polled and Kuchinoshima feral cattle, which are maintained in small populations. We determined the mitochondrial DMA (mtDNA) displacement loop (D‐loop) sequences for both cattle populations and analyzed these in conjunction with previously published data from Northeast Asian cattle populations. Our findings showed that Japanese native cattle have a predominant, Asian‐specific mtDNA haplogroup T4 with high frequencies (0.43–0.81). This excluded Kuchinoshima cattle (32 animals), which had only one mtDNA haplotype belonging to the haplogroup T3. Japanese Polled showed relatively lower mtDNA diversity in the average sequence divergence (0.0020) than other Wagyu breeds (0.0036–0.0047). Japanese Polled have been maintained in a limited area of Yamaguchi, and the population size is now less than 200. Therefore, low mtDNA diversity in the Japanese Polled could be explained by the decreasing population size in the last three decades. We found low mtDNA diversity in both Japanese Polled and Kuchinoshima cattle. The genetic information obtained in this study will be useful for maintaining these populations and for understanding the origin of Japanese native cattle.     

Genetic structure and relationships of 16 Asian and European cattle populations using DigiTag2 assay

In this study, we genotyped 117 autosomal single nucleotide polymorphisms using a DigiTag2 assay to assess the genetic diversity, structure and relationships of 16 Eurasian cattle populations, including nine cattle breeds and seven native cattle. Phylogenetic and principal component analyses showed that Bos taurus and Bos indicus populations were clearly distinguished, whereas Japanese Shorthorn and Japanese Polled clustered with European populations. Furthermore, STRUCTURE analysis demonstrated the distinct separation between Bos taurus and Bos indicus (K=2), and between European and Asian populations (K=3). In addition, Japanese Holstein exhibited an admixture pattern with Asian and European cattle (K=3‐5). Mongolian (K=13‐16) and Japanese Black (K=14‐16) populations exhibited admixture patterns with different ancestries. Bos indicus populations exhibited a uniform genetic structure at K=2‐11, thereby suggesting that there are close genetic relationships among Bos indicus populations. However, the Bhutan and Bangladesh populations formed a cluster distinct from the other Bos indicus populations at K=12‐16. In conclusion, our study could sufficiently explain the genetic construction of Asian cattle populations, including: (i) the close genetic relationships among Bos indicus populations; (ii) the genetic influences of European breeds on Japanese breeds; (iii) the genetic admixture in Japanese Holstein, Mongolian and Japanese Black cattle; and (iv) the genetic subpopulations in Southeast Asia.     

Assessment of genetic diversity and population structure of Vietnamese indigenous cattle populations by microsatellites

Cattle play a very important role in agriculture and food security in Vietnam. A high level of cattle diversity exists and serves different needs of Vietnamese cattle keepers but has not yet been molecularly characterized. This study evaluates the genetic diversity and structure of Vietnamese indigenous cattle populations, using microsatellite markers. A total of 410 individuals from six indigenous cattle populations and an exotic breed was characterized using 27 microsatellite markers A total of 362 alleles was detected and the number of alleles per locus ranged from 8 (INRA005 and ILSTS005) to 17 (ETH185). The level of gene diversity was high indicated by a mean expected heterozygosity (He) across populations and loci of 0.73. Level of inbreeding (mean F_IS=0.05) and genetic differentiation (mean F_ST=0.04) was moderate. The phylogenetic tree based on Reynolds genetic distance reflected geographic distances. Structure analysis indicated five homogeneous clusters. The Brahman, Lang Son, Ha Giang and U Dau Riu cattle were assigned to independent clusters while Nghe An, Thanh Hoa and Phu Yen cattle were grouped in a single cluster. We conclude that Vietnamese indigenous cattle have high levels of genetic diversity and distinct genetic structures. Based on these results, we recommend that for conservation homogenous populations (Nghe An, Thanh Hoa and Phu Yen) can be grouped to reduce costs and U Dau Riu, Lang Son and Ha Giang populations should be conserved separately to avoid loss of genetic diversity.     

Genetic analysis of Mexican Criollo cattle populations

The objective of this study was to evaluate the genetic structure of Mexican Criollo cattle populations using microsatellite genetic markers. DNA samples were collected from 168 animals from four Mexican Criollo cattle populations, geographically isolated in remote areas of Sierra Madre Occidental (West Highlands). Also were included samples from two breeds with Iberian origin: the fighting bull (n = 24) and the milking central American Criollo (n = 24) and one Asiatic breed: Guzerat (n = 32). Genetic analysis consisted of the estimation of the genetic diversity in each population by the allele number and the average expected heterozygosity found in nine microsatellite loci. Furthermore, genetic relationships among the populations were defined by their genetic distances. Our data shows that Mexican cattle populations have a relatively high level of genetic diversity based either on the mean number of alleles (10.2-13.6) and on the expected heterozygosity (0.71-0.85). The degree of observed homozygosity within the Criollo populations was remarkable and probably caused by inbreeding (reduced effective population size) possibly due to reproductive structure within populations. Our data shows that considerable genetic differentiation has been occurred among the Criollo cattle populations in different regions of Mexico.     

Gene dropping analysis of founder contributions in a closed Japanese black cattle population

Gene dropping simulation was applied to Japanese Black cattle population in Hyogo prefecture, to examine the survivals of alleles originated from founder animals. In the analysis, unique alleles were assigned to founders, and the genotypes of all descendants along the actual pedigree were generated through Monte Carlo simulation following Mendelian segregation rules. By replicating this process 10 000 times, the distribution of frequencies of alleles from each founder was estimated. From the distribution, several quantities useful for the management of genetic diversity, such as the probability of allele extinction and the probability of alleles surviving at a critically low frequency were derived. The materials used were 68 781 animals born in 1955–1998 and their pedigree records traced back to the population in 1937 or before. The expected number of alleles retained in the population drastically decreased during the analyzed period, and reached to 57.9 in the population of 1998, which was only 3.3% of the total number of alleles assigned to founders. Detailed analysis of major founders with relatively high genetic contributions to the current population revealed that alleles from most of the major founders are now at high risk of future extinction. These results strongly suggest that for the management of genetic diversity, the genetic contributions of founders are not fully informative, and emphasize the importance of the detection of live animals having founder alleles with high extinction possibilities.     

闽南牛遗传多样性及其系统地位的研究

以中心产区简单随机抽样法在福建省漳州市漳浦县霞关乡抽取闽南牛64头,采集血样,按常规方法分离血浆和血细胞,冷冻后带回实验室-20℃保存备用。用垂直平板聚丙烯酰胺凝胶电泳(PAGE)和水平淀粉凝胶电泳技术检测21个编码血液蛋白(酶)的结构基因座的基因频率,同时引用国内外13个群体7个相同座位的研究资料,进行聚类分析,结果表明:在所检测的21个基因座中,有10个存在多型,多态位点百分比为47．62％,群体内遗传变异水平相对较高,平均杂合度为0．1593;闽南牛与东南亚牛种亲缘关系较近,证实了闽南牛是由南方黄牛和瘤牛的混血种,但可能不含有斑腾牛或巴厘牛的血统。目前应扩大保种群的数量,以维持群体内遗传传多样性。     

利用基因组重测序技术鉴定黑安格斯牛的纯度

【目的】基于10头黑安格斯牛和60头对照组牛的全基因组重测序数据,分析黑安格斯牛的纯度、遗传多样性及群体结构。【方法】全基因组重测序技术和生物信息学方法。【结果】通过对10头黑安格斯牛全基因组数据进行分析,共检测到15,064,459个SNP位点,其核苷酸多样性（pi）为0.0015,观测杂合度（Ho）为0.2381,期望杂合度（He）为0.2430,表明黑安格斯牛的遗传多样性较低;主成分分析和群体遗传结构分析发现,黑安格斯牛与欧洲普通牛聚为一类,其中有4头黑安格斯牛存在偏离情况,表明这4头牛主要与中国瘤牛与东亚普通牛韩牛之间存在杂交。【结论】10头黑安格斯牛中,6头为纯种黑安格斯牛,4头为杂种牛。     

An insight into population structure and gene flow within pure‐bred cats

Investigation of genetic structure on the basis of pedigree information requires indicators adapted to the specific context of the populations studied. On the basis of pedigree‐based estimates of diversity, we analysed genetic diversity, mating practices and gene flow among eight cat populations raised in France, five of them being single breeds and three consisting of breed groups with varieties that may interbreed. When computed on the basis of coancestry rate, effective population sizes ranged from 127 to 1406, while the contribution of founders from other breeds ranged from 0.7 to 16.4%. In the five breeds, F_IS ranged between 0.96 and 1.83%, with this result being related to mating practices such as close inbreeding (on average 5% of individuals being inbred within two generations). Within the three groups of varieties studied, F_IT ranged from 1.59 to 3%, while values were estimated between 0.04 and 0.91%, which was linked to various amounts of gene exchanges between subpopulations at the parental level. The results indicate that cat breeds constitute populations submitted to low selection intensity, contrasting with relatively high individual inbreeding level caused by close inbreeding practices.     

Genetic analysis of calf market weight and carcass traits in Japanese Black cattle

Heritabilities of and genetic correlations between additive direct and maternal genetic effects for calf market weight, and additive direct genetic effects for carcass traits, were estimated for Japanese Black cattle by REML procedures under 2-trait animal models. Data were collected from calf and carcass markets in Hyogo and Tottori prefectures and analyzed separately by prefecture. Calf market weight was measured on 42,745 and 23,566 calves in Hyogo and Tottori, respectively. Only the fattening animals with calf market weight were extracted from the carcass database and used for estimation. The carcass traits analyzed were carcass weight, ribeye area, rib thickness, subcutaneous fat thickness, yield estimate, beef marbling score, and 4 meat characters (color, brightness, firmness, and texture). Direct and maternal heritabilities for calf market weight were estimated to be 0.22 and 0.07 in Hyogo, and 0.37 and 0.15 in Tottori, respectively. The estimates of heritabilities for carcass traits were moderate to high in both prefectures. The estimates of direct-maternal genetic correlations for calf market weight were positive (0.17) in Hyogo and negative (-0.63) in Tottori. The direct effect for calf market weight was positively correlated with the direct effect for carcass weight (0.87 and 0.56 in Hyogo and Tottori, respectively) but negatively correlated with the direct effect for beef marbling score (-0.10 in both prefectures). The estimates of genetic correlations between the maternal effect for calf market weight and the direct effects for carcass traits varied from -0.13 to 0.34 in Hyogo and from -0.14 to 0.15 in Tottori. Because direct and maternal genetic effects for early growth traits can be evaluated from calf market weight data in the production system of Japanese Black cattle, this information should be incorporated into selection and mating schemes of the breed.     

Pedigree information reveals moderate to high levels of inbreeding and a weak population structure in the endangered Catalonian donkey breed

The Catalonian donkey is one of the most endangered donkey breeds in the world. At present, five main subpopulations exist: AFRAC, which consists of many genetically connected Catalonian localities; Berga, which consists of a single herd located also in Catalunya but under private management; and three minor non‐Catalonian subpopulations (Huesca, Sevilla and Toledo). In this study, we analysed the pedigree information of the Catalonian donkey herdbook to assess the genetic diversity and population structure of the breed. We found that the Catalonian donkey has suffered an important loss of genetic diversity and moderate to high increases of inbreeding because of the abuse of a few individuals in matings. This scenario is mainly characterized by the fact that both the effective number of founders and ancestors for the whole population was 70.6 and 27, respectively, while the equivalent number of founders was 146.5 and the number of ancestors explaining overall genetic variability was 93. In addition, only 14% of animals born between the 1960s and 1970s were significantly represented in the pedigree. Our results also show that subpopulations where breeders exchanged reproductive individuals had low levels of inbreeding and average relatedness. One subpopulation, Berga, was reproductively isolated and showed high levels of inbreeding (F = 7.22%), with average relatedness (AR = 6.61%) playing an important role in increasing the values of these coefficients in the whole pedigree. Using genealogical F‐statistics we have found little evidence of population structuring (F_ST = 0.0083) with major genetic differences among non‐Catalonian subpopulations.     

Genetic diversity of Indian native cattle breeds as analysed with 20 microsatellite loci

The aim of the present study was to assess the genetic variation and establish the relationship amongst the three Indian zebu cattle breeds using 20 bovine‐specific microsatellite markers. A total of 136 unrelated DNA samples from Sahiwal (SC), Hariana (HC) and Deoni (DC) breeds of cattle were genotyped to estimate within and between breed genetic diversity indices. The estimated mean allelic diversity was 5.2, 6.5 and 5.9 in SC, HC and DC, respectively, with a total of 167 alleles. The average observed and expected heterozygosity for the population varied from 0.42 (SC) to 0.59 (DC), and from 0.61 (SC) to 0.70 (DC), respectively. Low values of genetic variability estimates were observed in SC when compared with DC and HC, indicating some loss of variability because of its relatively small population size. From global F‐statistics a significant deficit of heterozygotes of 24.2% (p < 0.05) was observed for each one of the analysed breeds whereas the total population had a 32.8% (p < 0.05) deficit of heterozygotes. The F_ST estimates demonstrated that approximately 88.7% of the total genetic variation was because of the genetic differentiation within each breed. Pair‐wise breed differentiation, Nei's standard and D_A genetic distance estimates revealed relatively close genetic similarity between HC and DC in comparison with SC. In the UPGMA‐based phylogenetic tree constructed from the genetic distances, HC and DC were grouped together in one cluster and SC in the other. The estimated time of divergence suggested a separation time of approximately 776 years between DC and HC, and a comparatively longer period (1296 years) between DC and SC.     

The T allele at the g.1471620G>T in the EDG1 gene associated with high marbling in Japanese Black cattle is at a low frequency in breeds not selected for marbling

Our previous study detected a single nucleotide polymorphism (SNP), g.1471620G > T , in the 5' flanking region of the endothelial differentiation sphingolipid G-protein-coupled receptor 1 ( EDG1 ) gene, which has been considered as a positional functional candidate for the gene responsible for marbling, and showed association of the g.1471620G > T SNP with marbling in Japanese Black beef cattle. In the present study, we investigated the allele frequency distribution of the g.1471620G > T SNP among the 5 cattle breeds, Japanese Black, Japanese Brown, Japanese Short Horn, Holstein, and Brown Swiss breeds. The T allele at the g.1471620G > T SNP associated with high marbling was found at high frequency in Japanese Black breed that has been subjected to a strong selection for high marbling, while the allele was absent or at very low frequencies in the other breeds that have not been strongly selected for high marbling. Based on this finding, we hypothesized that the pressure of the strong selection for high marbling in Japanese Black breed has increased the frequency of the T allele at the g.1471620G > T SNP in the EDG1 .     

Genetic diversity of Chinese indigenous goat breeds based on microsatellite markers

Eighteen microsatellites were used to investigate the genetic diversity and differentiation of eight Chinese indigenous goat breeds. The results indicated that there is a significant difference of genetic diversity between different loci. Chinese indigenous goat breeds have similar genetic diversity to other Asian goats, but with lower Fst. The clustering of individuals and populations showed that Chinese indigenous goat breeds might have originated from two ancestral populations. The genetic differentiation between populations is consistent with the results of archaeology, mtDNA and RAPD.     

日本牛的遗传资源

本文扼要回顾了日本牛种资源的发展历史;介绍了日本牛的遗传资源状况和各主要牛种的特征特性;从日本牛的遗传可变性和遗传距离等方面分析了日本牛品种之间的遗传关系;并展望了日本黑毛和牛、日本褐牛、日本短角牛、日本无角牛、见岛牛、口子岛牛等日本牛种资源的发展前景。     

Monitoring of genetic diversity in the Japanese Black cattle population by the use of pedigree information

The gene pool of the Japanese Black cattle has been completely closed to foreign breeds during the last 100 years. Genetic diversity of the Japanese Black cattle from 1960 to 2000 was monitored with three estimates of effective number of ancestors. Founder genome equivalent (N_ge) accounts for all the causes of reduction of diversity. Effective number of founders (N_ef) and non‐founders (N_enf) explain reduced diversity because of unequal genetic contributions of founders and random genetic drift in non‐founders, respectively. Further examination using gene dropping simulation was conducted to obtain information on survival of founder alleles. Unique founder alleles were dropped down along the actual pedigree with Monte Carlo procedure following Mendelian segregation rules, and generated genotypes of all the current live animals (612 959 heads). Pedigree records consisted of 2 075 188 animals was used for these analysis. The estimates of three effective numbers (N_ef, N_ge, and N_enf) decreased from 418.6 to 50.3, 86.6 to 7.3, and 109.2 to 8.5, respectively, during the period 1960–2000. The increasing differences between two kinds of genetic diversity indices derived from N_ge and N_ef showed that large part of the reduced diversity from 1980 was attributed to genetic drift caused by the intensive use of particular limited number of sires. In gene dropping analysis, probabilities of extinction of founder alleles were derived from their distributions of frequency in the current animals. Several founders showed low probabilities of allele extinction, irrespective of their relatively low genetic contributions. This suggests that these founders have lineages through which their alleles are surely transmitted to the current breed. The use of these founders as a strategy for recovering the genetic diversity was discussed.