Characterization and validation of bovine gonadotripin releasing hormone receptor (GNRHR) polymorphisms

Gonadotropin releasing hormone and its receptor (GNRHR) play a critical role in sexual differentiation and reproduction. Available evidence shows a strong genetic component in the timing of puberty. In bovines, there are significant differences within and among beef breeds in the time when bulls reach puberty. Despite its economic importance, there are not many SNPs or genetic markers associated with this characteristic. The aims of the study were to identify DNA polymorphism in the bovine GNRHR by re-sequencing analysis, determine haplotype phases, and perform a population study in a selected tag SNP in six breeds. Eight SNPs were detected, including: one in the Upstream Regulatory Region (URR), five in the coding regions, and two in non-coding regions. This polymorphism level corresponds to one variant every 249.4 bp and a global nucleotide diversity of 0.385. Two haplogroups comprising nine haplotypes and two linkage blocks were detected. Despite 5 tag SNPs were required to capture all variability, just one SNP allowed to define both haplogroups, and only two SNPs were needed to differentiate the most common haplotypes. An additional taq SNP was necessary to identify both URR variants. Allele-frequency analysis of a selected taq SNP among breeds showed a geographical cline. European Bos taurus breeds had lower frequencies of the C allele than B. indicus type cattle, while Creole cattle and Wagyu breeds had intermediate frequency. There was a significant correlation between frequency profile and timing of puberty among the studied breeds, which seems to suggest that genetic variation within bovine GNRHR gene could explain at least part of the reported variability.     

Two novel intronic polymorphisms of bovine FGF21 gene are associated with body weight at 18 months in Chinese cattle

Fibroblast growth factor 21 (FGF21) is a hepatic hormone that regulates peripheral glucose tolerance, energy balance and lipid metabolism. Prior evidence suggests that FGF21 may have the potential to favorably reduce obesity. The objective of the present study was to identify single nucleotide polymorphisms (SNPs) of bovine FGF21 using 1255 animals representing the five main Chinese breeds and to investigate the effect of these SNPs on economic traits in Nanyang cattle. Four significant SNPs were identified, one was a synonymous mutation and the other three were in intronic regions. The polymorphism information content (PIC) analysis showed that four beef cattle populations (NY, JX, LX and QC) had a moderate genetic diversity at the four loci while the beef and dairy population (CRS) had a low level. Additionally, allele and genotype frequencies for the beef breeds were significantly different from CRS, implying that these mutations are possibly associated with some quantitative traits. Moreover, linkage disequilibrium analysis and haplotype frequencies were also reported. Seven different haplotypes were identified and haplotype TCCC was predominant in all five cattle breeds. Association analysis suggested that SNPs g.297C>G and g.940C>T of bovine FGF21 were associated with higher body weight at 18 months within NY cattle, which would contribute to cattle breeding and genetics through marker-assisted selection (MAS).     

Genotypes and allele frequencies of buried SNPs in a bovine single‐nucleotide polymorphism array in Japanese Black cattle

Single nucleotide polymorphism (SNP) arrays are widely used for genetic and genomic analyses in cattle breeding; thus, data derived from SNP arrays have accumulated on a large scale nationwide. Commercial SNP arrays contain a considerable number of unassigned SNPs on the chromosome/position on the genome; these SNPs are excluded in subsequent analyses. Notably, the position‐unassigned SNPs, or “buried SNPs” include some of the markers associated with genetic disease. In this study, we identified the position of buried SNPs using the Basic Local Alignment Search Tool against the surrounding sequences and characterized the relationship between SNPs and genetic diseases in Online Mendelian Inheritance in Animals based on the genomic position. We determined the position of 285 buried SNPs on the genome and surveyed the genotype and allele frequencies of these SNPs in 5,955 individual Japanese Black cattle. Eleven SNPs associated with genetic disease, which contained five buried SNPs, were found in the population with the risk allele frequency ranging from 0.00008396 to 0.46. These results indicate that buried SNPs in the bovine SNP array can be utilized to identify associations with genetic disorders from large scale accumulated SNP genotype data in Japanese Black cattle.     

High incidence of single nucleotide polymorphisms in the prion protein gene of native Brazilian Caracu cattle

Different alleles of the human and ovine prion protein gene correlate with a varying susceptibility to transmissible spongiform encephalopathies. However, the pathogenic implications of specific polymorphisms in the bovine prion protein gene (PRNP) are only poorly understood. Previous studies on the bovine PRNP gene investigated common European and North American cattle breeds. As a consequence of decades of intensive breeding for specific traits, these modern breeds represent only a small fraction of the bovine gene pool. In this study, we analysed PRNP polymorphisms in the native Brazilian Caracu breed, which developed in geographical isolation since the 16th century. A total of 10 single nucleotide polymorphisms (SNPs) were discovered in the coding region of the Caracu PRNP gene. Eight of the SNPs occurred at high frequencies in Caracu cattle (variant allele frequencies = 0.10–0.76), but were absent or only rarely observed in European and North American breeds. One of the Caracu SNPs was associated with an amino acid exchange from serine to asparagine (f = 0.17). This SNP was not detected in Holstein–Friesian, Simmental and German Gelbvieh and was only rarely detected in beef cattle (f = 0.01). We found 17 haplotypes for PRNP in the Caracu breed.     

Gene and haplotype polymorphisms of the Prion gene (PRNP) in Japanese Brown, Japanese native and Holstein cattle

Polymorphisms in the prion protein gene ( PRNP ) are known to be associated with transmissible spongiform encephalopathies in human, sheep and goats. There is tentative association between PRNP promoter polymorphism and bovine spongiform encephalopathy (BSE) susceptibility in cattle. In this study, we genotyped for six bovine PRNP polymorphic sites including a 23-bp indel in the promoter, a 12-bp indel in the intron 1, two nonsynonymous single nucleotide polymorphisms (SNPs), octapeptide repeats in the coding region and a 14-bp indel in the 3'-untranslated region in 178 animals representing Japanese Brown, Kuchinoshima feral, Mishima, Japanese Shorthorn and Holstein. In 64 Japanese Brown cattle, three indel sites were polymorphic. All of the six sites were monomorphic in Kuchinoshima. The 23-bp and 12-bp indel sites were polymorphic in Mishima cattle. The 23-bp and 14-bp indel sites were polymorphic in Japanese Shorthorn cattle. Both SNP sites were monomorphic in all cattle examined in this study. At the 23-bp indel site, the genotype frequencies of Japanese Brown and Holstein breeds were similar to that of BSE affected cattle. We estimated 12 different haplotypes from these genotypic data. A '23-12-K6S14+' haplotype was the major haplotype in all populations, whose frequencies ranged from 0.50 to 1.00.     

Allele‐specific PCR typing and sequencing of the mitochondrial D‐loop region in four layer breeds

This study aimed to investigate the ability of single nucleotide polymorphism (SNP) haplotypes in chicken mtDNA for presumption of the origins of chicken meat. We typed five SNPs of the D‐loop region in mtDNA by allele‐specific PCR (AS‐PCR) in 556 hens, that is 233 White Leghorn (WL), 50 Dekalb‐TX35 (D‐TX), 140 Barred Plymouth Rock (BPR) and 133 Rhode Island Red (RIR) kept in the National Institute of Livestock and Grassland Science (NILGS, Tsukuba, Japan). Five haplotypes were observed among those chickens by AS‐PCR. WL, D‐TX, BPR and RIR displayed three, two, one and four SNP haplotypes, respectively. By a combination of the haplotypes by AS‐PCR and the breeds, these chickens were classified into 10 groups. After the D‐loop was sequenced in two chickens from every group (20 individuals), 15 SNP sites (including one insertion) and eight sequence haplotypes were observed. In conclusion, haplotype variation was observed in and among the layer breeds of the NILGS. This study demonstrates that SNP haplotypes in mtDNA should be appropriate for the presumption of the origins of chicken meat.     

Genetic diversity of Chinese domestic goat based on the mitochondrial DNA sequence variation

The aim of this study was to characterize the genetic diversity of domestic goat in China. For this purpose, we determined the sequence of the mitochondrial DNA (mtDNA) control region in 72 individuals of the Yangtze River delta white goat, and reanalysed 723 published samples from 31 breeds/populations across China. All goat haplotypes were classified into four haplogroups (A–D) previously described. The phylogenetic pattern that emerged from the mtDNA control region sequence was confirmed by the analysis of the entire cytochrome b sequence of eight goats representative of the four haplogroups. It appeared that in Chinese domestic goat, haplogroups A and B were dominant and distributed in nearly all breeds/populations, while haplogroups C and D were only found in seven breeds/populations. Four breeds/populations contained all four haplogroups. When grouping the breeds/populations into five geographic groups based on their geographic distributions and ecological conditions, the southern pasturing area had the highest diversity whereas the northern farming area had the lowest diversity. 84.29% and 11.37% of the genetic variation were distributed within breeds and among breeds within the ecologically geographical areas, respectively; only 4% of genetic variation was observed among the five geographic areas. We speculate that the traditional seasonal pastoralism, the annual long-distance migrations that occurred in the past, and the commercial trade would account for the observed pattern by having favoured gene flows.     

Genetic phylogeography and maternal lineages of 18 Chinese black goat breeds

To understand the origin and genetic phylogeography of Chinese black goats, variations of mitochondrial DNA were characterised with 394 goats from 18 breeds, including 91 new individuals from regions poorly studied until now. Comparison of a 481-bp segment revealed a total of 192 haplotypes with 141 variable sites. The haplotype and nucleotide diversities ranged from 0.782?±?0.079 to 1.000?±?0.020 and from 0.009?±?0.001 to 0.045?±?0.006, respectively, indicating a relatively high genetic diversity in Chinese black goats. Phylogenetic analyses identified five haplogroups (A, B₁, B₂, C and D). The dominant haplogroups A, B₁ and B₂ were distributed in most of breeds, while the haplogroups C and D were only presented in the breeds located in north or northwest of China. Analysis of molecular variance and multidimensional scaling plot of F _ST analyses indicated no obvious geographic structure among breeds. Furthermore, the migration rates revealed that a wide range of gene flow or gene exchange occurred among breeds, which may result in the weak geographic structure of Chinese black goats. Population expansion analysis based on mismatch distribution indicated that two expansion events in Chinese black goats occurred at 10 and 28 mutational time units. Finally, our findings indicate the multiple maternal origins of Chinese black goats and more gene flow (female-mediated) which occurred during their domestic and breeding histories.     

Three novel single-nucleotide polymorphisms of MBL1 gene in Chinese native cattle and their associations with milk performance traits

Mannan-binding lectin (MBL), a pattern recognizing serum protein, participates in the innate immune system of mammals as an opsonin. In humans, single-nucleotide polymorphisms (SNPs) in MBL2 gene were found to cause various innate immune dysfunctions. In the present study, we discovered three single-nucleotide polymorphisms of the MBL1 gene in Chinese native cattle and analyzed their associations with milk traits. By screening the genetic variation of MBL1 in 1053 individuals of three Chinese native cattle breeds including China Holstein, Luxi Yellow and Bohai Black using created restriction site–polymerase chain reaction (CRS–PCR), PCR–restriction fragment length polymorphism (PCR–RFLP) and DNA sequencing techniques, three new SNPs, g.855G>A, g.2651G>A and g.2686T>C, were found to have allele frequencies of 0–12.65%, 24.07–42.39% and 56.95–73.68%, respectively. While SNP g.855G>A is located within intron ?, the other two SNPs reside in the exon II region with one mutation being non-synonymous (GTT (Val) > ATT (Ile)) and the other synonymous (GCT (Ala) > GCC (Ala)). Among the 596 Chinese Holstein cattle with at least 3 lactation Dairy Herd Improvement (DHI) records, eight different haplotypes and 19 genotype combinations were detected. Statistical analyses revealed no correlation between either g.855G>A or g.2686T>C and somatic cell score (SCS), however significant association was found between g.2651G>A and SCS, suggesting a possible role of this SNP in the host response against mastitis. Our data also suggested that the combined genotypes of GGC/AAC with the lowest SCS, AAT/AAT with the highest protein content and AGC/AGC with the highest 305-d milk yield were favorable combinations for mastitis resistance and milk production traits. Therefore, GGC/AAC, AAT/AAT and AGC/AGC can be used as possible candidates for marker-assisted selection in the dairy cattle breeding program.     

Combined use of principal component analysis and random forests identify population‐informative single nucleotide polymorphisms: application in cattle breeds

The genetic identification of the population of origin of individuals, including animals, has several practical applications in forensics, evolution, conservation genetics, breeding and authentication of animal products. Commercial high‐density single nucleotide polymorphism (SNP) genotyping tools that have been recently developed in many species provide information from a large number of polymorphic sites that can be used to identify population‐/breed‐informative markers. In this study, starting from Illumina BovineSNP50 v1 BeadChip array genotyping data available from 3711 cattle of four breeds (2091 Italian Holstein, 738 Italian Brown, 475 Italian Simmental and 407 Marchigiana), principal component analysis (PCA) and random forests (RFs) were combined to identify informative SNP panels useful for cattle breed identification. From a PCA preselected list of 580 SNPs, RFs were computed using ranking methods (Mean Decrease in the Gini Index and Mean Accuracy Decrease) to identify the most informative 48 and 96 SNPs for breed assignment. The out‐of‐bag (OOB) error rate for both ranking methods and SNP densities ranged from 0.0 to 0.1% in the reference population. Application of this approach in a test population (10% of individuals pre‐extracted from the whole data set) achieved 100% of correct assignment with both classifiers. Linkage disequilibrium between selected SNPs was relevant (r² > 0.6) only in few pairs of markers indicating that most of the selected SNPs captured different fractions of variance. Several informative SNPs were in genes/QTL regions that affect or are associated with phenotypes or production traits that might differentiate the investigated breeds. The combination of PCA and RF to perform SNP selection and breed assignment can be easily implemented and is able to identify subsets of informative SNPs useful for population assignment starting from a large number of markers derived by high‐throughput genotyping platforms.     

Polymorphisms in growth hormone gene and their associations with calf weight in Japanese Black cattle

The objectives of this study were to detect effective genetic polymorphisms of bovine growth hormone (bGH) gene associated with calf weight in Japanese Black cattle. Fifty‐eight sires and 47 breeding cows were used to detect the polymorphisms in exons by single‐strand conformation polymorphism (SSCP). Four homozygous and six heterozygous SSCP genotypes were identified in exon 5. Although each single nucleotide polymorphism (SNP) had been reported, these genotypes were caused by three SNPs at the nucleotide positions 2141, 2277 and 2291. Four haplotypes C‐C‐A, G‐C‐A, C‐C‐C and G‐T‐A were newly identified. It was suggested that other haplotypes not detected in this study may not exist, considering the allele frequencies reported in Bos taurus and Bos indicus, and the migrating process of native Japanese cattle. Thereafter, we examined associations between the detected polymorphic sites in exon 5 by PCR – restriction fragment length polymorphism and calf weight using 53 breeding dams and 135 calves. The birth weights of calves with haplotype G‐C‐A are significantly lighter and calves' weights produced by cows with such haplotype are also lighter at 30 days old, using regression analysis. Although further research is necessary, these results may serve as a useful criterion to select breeding stocks, especially in maternal abilities.     

中国地方绵羊群体TYRP1基因遗传变异研究

本研究旨在了解酪氨酸酶相关蛋白1（tyrosinase related protein 1，TYRP1）基因在中国地方绵羊群体内的遗传变异，以及TYRP1基因突变与不同毛色表型绵羊群体的相关性。通过直接测序法和PCR-RFLP技术对10个中国地方绵羊群体进行单核苷酸多态性（SNP）检测，利用Beagle、PLINK和POPGENE等软件对突变位点数据进行单倍型构建、连锁不平衡分析和遗传变异研究。突变位点检测结果表明，在绵羊TYRP1基因内识别了13个SNPs，其中位于TYRP1基因外显子上的10个SNPs位点，除个别位点在大尾寒羊、中国美利奴羊和岷县黑裘皮羊中没有发生突变外，其他突变位点在所有绵羊品种中均出现不同程度变异，说明中国地方绵羊群体具有较高的遗传多样性。单倍型分析结果表明，所有样本中共有42个单倍型，优势单倍型0000000000（245/918）、0100000001（91/918）在所有绵羊群体中均存在，除单倍型0101100000（93/918）在中国美利奴羊中没有出现，单倍型0001000001（69/918）在岷县黑裘皮羊、哈萨克羊群体中没有出现外，在其他群体中均存在。连锁分析结果表明，10个SNPs在所有样本中均存在2个连锁模块。群体遗传变异分析表明，中国地方绵羊群体具有较高水平的群体内遗传变异，各绵羊品种间存在明显的遗传分化模式，且各品种遗传关系与其品种传统分类结果基本一致。本研究为进一步研究TYRP1基因对绵羊毛色遗传性状的影响提供了参考依据。     

Promoter region of the bovine growth hormone receptor gene: single nucleotide polymorphism discovery in cattle and association with performance in Brangus bulls

Expression of the GH receptor (GHR) gene and its binding with GH is essential for growth and fat metabolism. A GT microsatellite exists in the promoter of bovine GHR segregating short (11 bp) and long (16 to 20 bp) allele sequences. To detect SNP and complete an association study of genotype to phenotype, we resequenced a 1,195-bp fragment of DNA including the GT microsatellite and exon 1A. Resequencing was completed in 48 familialy unrelated Holstein, Jersey, Brown Swiss, Simmental, Angus, Brahman, and Brangus cattle. Nine SNP were identified. Phylogeny analyses revealed minor distance (i.e., <5%) in DNA sequence among the 5 Bos taurus breeds; however, sequence from Brahman cattle averaged 27.4 +/- 0.07% divergence from the Bos taurus breeds, whereas divergence of Brangus was intermediate. An association study of genotype to phenotype was completed with data from growing Brangus bulls (n = 553 from 96 sires) and data from 4 of the SNP flanking the GT microsatellite. These SNP were found to be in Hardy-Weinberg equilibrium and in phase based on linkage disequilibrium analyses (r(2) = 0.84 and D'= 0.92). An A/G tag SNP was identified (ss86273136) and was located in exon 1A, which began 88 bp downstream from the GT microsatellite. Minor allele frequency of the tag SNP was greater than 10%, and Mendelian segregation was verified in 3 generation pedigrees. The A allele was derived from Brahman, and the G allele was derived from Angus. This tag SNP genotype was a significant effect in analyses of rib fat data collected with ultrasound when bulls were ~365 d of age. Specifically, bulls of the GG genotype had 6.1% more (P = 0.0204) rib fat than bulls of the AA and AG genotypes, respectively. Tag SNP (ss86273136), located in the promoter of GHR, appears to be associated with a measure of corporal fat in Bos taurus x Bos indicus composite cattle.     

The bovine CXCR1 gene is highly polymorphic

Several single nucleotide polymorphisms (SNP) in the bovine CXCR1 gene have been implicated in resistance to mastitis and milk somatic cell counts in several sample populations of Holstein dairy cows. As such, a more thorough understanding of SNP present in and near the bovine CXCR1 gene is needed. This study identified 36 SNP in the coding region and surrounding sequences of CXCR1 in 88 Holstein dairy cows. Four SNP induced amino acid changes and 1 SNP an early stop codon. Two amino acid changes occur in the third intracellular loop and C-terminus in locations tied to intracellular signaling. The 36 SNP could be subdivided into 4 separate linkage groups. Using representative or 'tag' SNP from each linkage group, haplotypes or the combination of SNP found on a single allele were generated to increase the specificity of an animal's genetic background. Four haplotypes were identified that represented 99% of the sample population. The haplotypes generated using tag SNP agreed with haplotypes generated from SNP causing amino acid changes. In conclusion, the CXCR1 gene is highly polymorphic and has potential implications towards genetic selection and understanding host factors that increase the risk of infection.     

Identification of single nucleotide polymorphisms in the bovine Toll-like receptor 1 gene and association with health traits in cattle

ABSTRACT: Bovine mastitis remains the most common and costly disease of dairy cattle worldwide. A complementary control measure to herd hygiene and vaccine development would be to selectively breed cattle with greater resistance to mammary infection. Toll-like receptor 1 (TLR1) has an integral role for the initiation and regulation of the immune response to microbial pathogens, and has been linked to numerous inflammatory diseases. The objective of this study was to investigate whether single nucleotide polymorphisms (SNPs) within the bovine TLR1 gene (boTLR1) are associated with clinical mastitis (CM).Selected boTLR1 SNPs were analysed within a Holstein Friesian herd. Significant associations were found for the tagging SNP -79 T > G and the 3'UTR SNP +2463 C > T. We observed favourable linkage of reduced CM with increased milk fat and protein, indicating selection for these markers would not be detrimental to milk quality. Furthermore, we present evidence that some of these boTLR1 SNPs underpin functional variation in bovine TLR1. Animals with the GG genotype (from the tag SNP -79 T > G) had significantly lower boTLR1 expression in milk somatic cells when compared with TT or TG animals. In addition, stimulation of leucocytes from GG animals with the TLR1-ligand Pam3csk4 resulted in significantly lower levels of CXCL8 mRNA and protein.SNPs in boTLR1 were significantly associated with CM. In addition we have identified a bovine population with impaired boTLR1 expression and function. This may have additional implications for animal health and warrants further investigation to determine the suitability of identified SNPs as markers for disease susceptibility.     

西门塔尔牛与我国地方黄牛的杂种优势预测分析

旨在利用覆盖全基因组和与性状相关的SNPs标记分析西门塔尔牛和地方黄牛两个亲本群体的遗传结构,通过亲本种群之间的遗传距离预测不同杂交组合在生长、胴体和肉质性状上的杂种优势.本研究选择来自内蒙古锡林郭勒盟乌拉盖管理区牧场的1 222头西门塔尔牛和8个地方黄牛品种190头共组成8个杂交组合,对亲本群体进行遗传结构分析.利用...     

How many markers are enough? Factors influencing parentage testing in different livestock populations

Reliability of parentage test panels is usually based on its power to exclude wrong parentage assignments based on allele frequencies. We evaluated the rates of false exclusions and inclusions in parentage assignments, and how these results are affected by allele frequencies, panel sizes and the number of allowed mismatches. We also evaluated the reliability of parentage testing by comparing populations with distinct genetic backgrounds using pure and composite families of cattle and sheep. Allowing for 1% genotype mismatches in true parent–offspring relations provided the best compromise between false‐positive and false‐negative assignments. Pure breeds needed at least 200–210 single‐nucleotide polymorphism (SNP) markers to correctly assign relations, but between 700 and 890 markers to avoid assigning incorrect relationships. Composite breeds needed between 220 (sheep) and 500 (cattle) markers for correct assignment; 680 (cattle) to 4400 (sheep) SNPs were needed to eliminate false‐positive assignments. Allowing 0% genotype mismatches decreased false‐positive but increased false‐negative assignments, whilst a higher threshold of 2% showed the opposite effects. Panels with high minor allele frequencies (0.35–0.45) provided the best chance for correct parentage resolutions requiring fewer markers. Further, we propose that a dynamic threshold would allow adapting to population specific error rates. A comparison to the performance of the official International Society for Animal Genetics SNP panel for cattle and a recently published SNP panel for sheep showed that randomly selected markers performed only slightly worse for the applied parentage test based on opposing homozygotes. This suggests that even with carefully selected panels, only marginal assignment improvements are obtainable for a particular number of SNPs. The main point for improvement is the number of markers used. We recommend using at least 200 SNP markers for parentage testing if the aim is to reduce false‐negative results. To fully exclude false positives at least 700 markers are required.     

湘西黄牛Y-SNPs遗传多样性研究

[目的]通过Y-SNP分子标记方法研究湘西黄牛的遗传多样性、群体遗传结构及父系起源。[方法]采用PCR扩增、测序与生物信息学方法,对24头湘西黄牛的2个Y-SNPs(UTY-19和ZFY-10)标记进行多态性分析。[结果]结果表明,湘西黄牛有Y1和Y3两种单倍型组,频率分别为12.5%和87.5%,表明湘西黄牛可能有普通牛和瘤牛2个父系起源。湘西黄牛的Y-SNP遗传多样度为0.2283±0.0978,表明湘西黄牛具有较低的父系遗传多样性,品种纯度较高。[结论]湘西黄牛的父系起源为瘤牛Y3单倍型组,其Y1单倍型组为国外肉牛杂交所致。     

Investigation of the genetic diversity among native Turkish sheep breeds using mtDNA polymorphisms

A total of 135 unrelated sheep from nine Turkish native sheep breeds (Dagl?c, Kivircik, Imroz, Chios, Morkaraman, Ivesi, Hemsin, Karayaka and Akkaraman) were investigated to determinate the maternal genetic diversity using a sequence of a 531-bp segment of the mtDNA control region. Analysis of the mtDNA control region sequence revealed 63 haplotypes and 53 polymorphic sites. Haplotype diversity, nucleotide diversity and the average number of nucleotide differences were estimated to be 0.9496?±?0.011, 0.01407?±?0.00060 and 7.456, respectively. The sequence analysis also revealed high level of genetic diversity among the native Turkish breeds. These breeds were grouped into three major maternal haplogroups: A, B and C, with one animal belonging from the Akkaraman breed to the rare haplogroup E. Irregular shape of mismatch distribution of haplogroup C could be an indicator that haplogroup C may represent different haplogroups. Contrarily to previous studies carried out on Turkish native breeds, majority of animals grouped in haplogroup A in the present study. This result and the irregular shape of mismatch curve of haplogroup C indicate that genetic structure of Turkish native sheep breeds could be more complicated than it is thought.