Novel polymorphisms of the IGF1R gene and their association with average daily gain in Egyptian buffalo (Bubalus bubalis)

The objective of this study was to detect insulin-like growth factor 1 receptor (IGF1R) polymorphisms, their allele, and genotype frequencies and to determine associations between these polymorphisms and growth traits in Egyptian water buffalo. Three loci of the IGF1R coding region were amplified by RT-PCR and, subsequently, subjected to sequence analysis, followed by single-strand conformation polymorphism to identify different allelic patterns. A total of 11 novel polymorphisms were detected; 6 SNPs among Egyptian water buffaloes and 5 polymorphisms compared with Indian buffalo (Y12700). Three of those polymorphisms; GAG Indel polymorphism, C261G, and G263C SNPs, were nonsynonymous mutations. The GAG Indel polymorphism led to deletion of E (glutamic) amino acid (aa) in the IGF1R of Egyptian water buffaloes compared with Indian buffalo. However, C261G SNP, which replaced A (alanine) by G (glycine) aa, and G263C SNP, which changed A (alanine) to P (proline) aa, were detected among Egyptian water buffaloes. Three different single-strand conformation polymorphism patterns were observed in exon 21: CC/CC, GG/GG, and CG/GC with frequencies of 0.291, 0.253, and 0.556, respectively. The heterozygous animals (CG/GC) had a higher ADG than homozygous animals (CC/CC and GG/GG) from birth to 6 mo of age. We conclude that the heterozygous haplotype, C261G/G263C, in exon 21 of the IGF1R gene is associated with the ADG during the early stages of life (from birth to 6 mo of age) and could be used as a genetic marker for selection of growth traits in Egyptian buffalo.     

UTS2R gene polymorphisms are associated with fatty acid composition in Japanese beef cattle

Fatty acid composition of beef adipose tissue is one of its important traits because a high proportion of monounsaturated fatty acid is related to favorable beef flavor and tenderness. In this study, we searched polymorphisms in full length coding DNA sequence of urotensin 2 recepter and investigated the effects on fatty acid composition (C14:0, C14:1, C16:0, C16:1, C18:0, C18:1, C18:2, monounsaturated fatty acid, saturated fatty acid). Eight single nucleotide polymorphisms (SNP) were identified by sequence comparison among eight animals, including five Japanese Black and three Holstein cattle. One of these SNP (c.866C>T) was predicted to cause amino acid substitutions (P289L) and the other seven synonymous SNP, including c.267C>T, were presumed to be in linkage disequilibrium. Therefore we selected two SNP (c.267C>T and c.866C>T) for further analysis. We investigated associations between these genotypes and fatty acid composition in three Japanese Black populations (n = 560, 245 and 287) and a Holstein population (n = 202). Tukey‐Kramer's honestly significant difference test revealed that CC genotype in c.267C>T indicated lower C14:0 and higher C18:1 than the other genotypes in Japanese Black cattle and CC genotype in c.866C>T showed lower C16:1 than CT genotype in Holstein cattle (P < 0.05). These results suggested that these genotypes would contribute to production of high‐grade meat as selection markers in beef cattle.     

Effect of selected single nucleotide polymorphisms in SLC11A1, ANKRA2, IFNG and PGLYRP1 genes on host susceptibility to Mycobacterium avium subspecies paratuberculosis infection in Indian cattle

Paratuberculosis (PTB) is a chronic infectious enteritis of ruminants, caused by Mycobacterium avium subspecies paratuberculosis (MAP) that brings huge economic loss to the dairy farmers. The study was conducted to explore the association of selected SNPs in IFNG, SLC11A1, ANKRA2 and PGLYRP1 genes with resistance to PTB disease in Indian cattle population. A case-control resource population was established based on the results of diagnostic tests used for detection of MAP infection status viz. ELISA, Johnin PPD test, faecal microscopy and IS900 blood PCR. The PCR-RFLP method was used for genotyping of SNPs. SNPs rs109453173 in SLC11A1, rs110853455 in IFNG and rs41933863 in ANKRA2 genes were significantly (P<0.05) associated with resistance to MAP infection. For SNP rs109453173, GG genotype and G allele was found to be associated with resistance against MAP infection than CC and CG genotypes and C allele, respectively. For SNP rs110853455, AG genotype was found to be associated with susceptibility to MAP infection than AA and GG genotype. For SNP rs41933863, the AG genotype provided three and six times more resistance against MAP infection than GG and AA genotype. The results of this study are suggestive of SNPs rs109453173, rs110853455 and rs41933863 as potential markers for screening MAP resistant cattle and a breeding programme favouring GG genotype and G allele for rs109453173, AG genotype for rs41933863 and against AG genotype for rs110853455 might confer resistance against MAP infection in Indian cattle. However, investigation of these SNPs in an independent and larger population will warrant the strength of association for resistance against MAP infection in cattle.

     

杜洛克猪MAP3K5基因多态位点与生长、饲料利用性状的关联分析

试验旨在研究MAP3K5基因多态性与杜洛克猪生长、饲料利用性状的关联性。利用Illumina SNP60芯片测序结果比较发现了MAP3K5基因的4个SNPs位点（Ssc1：30769583 A>C;Ssc1：30781169 A>G;Ssc1：30940839 A>G;Ssc1：30962276 G>A）。统计获得MAP3K5基因的4个SNPs位点的基因型频率及等位基因频率,发现4个SNPs为低度－中度的多态突变位点。对MAP3K5基因多态性与生长、饲料利用性状的关联性进行分析,结果表明,杜洛克猪Ssc1：30769583 A>C位点CC基因型个体与AA基因型个体相比剩余采食量（RFI）性状降低了133.08 g/d（P<0.05）;Ssc1：30781169 A>G位点的GG基因型个体与AG基因型个体相比RFI性状降低了116.18 g/d（P<0.05）,ADFI性状降低了0.23 kg/d（P<0.05）;Ssc1：30940839 A>G位点的GG基因型个体与AG基因型个体相比饲料转化率（FCR）性状降低了0.10%（P<0.05）;Ssc1：30962276 G>A位点的AA基因型个体与GG基因型个体相比ADG性状降低了0.04 kg/d（P<0.05）。试验初步认为MAP3K5基因4个SNPs位点的多态性对杜洛克猪的RFI、ADFI、FCR和ADG具有一定影响。     

Association Analysis on MAP3K5 Gene Polymorphism Site with Growth and Feed Efficiency Related Traits in Duroc Pigs

This study was aimed to analyze the association of four SNPs of MAP3K5 gene with growth and feed efficiency related traits in Duroc populations. Four SNPs(Ssc1:30769583 A>C;Ssc1:30781169 A>G;Ssc1:30940839 A>G;Ssc1:30962276 G>A)of MAP3K5 gene in Duroc populations were obtained by porcine SNP60 BeadChip（Illumina). The genotype frequency and allele frequency of four SNPs of MAP3K5 gene were analyzed,the result showed that four SNPs were the low-moderate mutation SNPs.The polymorphism of MAP3K5 gene and its association with feed efficiency related traits in Duroc population were analyzed. The results indicated that CC genotype individuals in Ssc1:30769583 A>C had significant lower RFI（133.08 g/d）than AA genotype individuals（P<0.05);GG genotype individuals in Ssc1:30781169 A>G had significant lower RFI（116.18 g/d）and ADFI（0.23 kg/d）than AG genotype individuals（P<0.05);GG genotype individuals in Ssc1:30940839 A>G had significant lower FCR（0.10%）than AG genotype individuals（P<0.05);AA genotype individual in Ssc1:30962276 G>A had significant lower ADG（0.04 kg/d）than GG genotype individuals（P<0.05). All in all,the results suggested that four SNPs polymorphisms of MAP3K5 gene had the significant impact on RFI, ADFI, FCR and ADG traits in Duroc pigs.     

The effect of a leptin single nucleotide polymorphism on quality grade, yield grade, and carcass weight of beef cattle

Feedlot producers could optimize the value of cattle in a given market grid if they were able to improve the uniformity of the body composition between cattle among loads. Allelic variation due to a single nucleotide transition (cytosine [C] to thymine [T] transition that results in a Arg25Cys) has been demonstrated to be associated with higher leptin mRNA levels in adipose tissue and increased fat deposition in mature beef, but the effect on economically important carcass traits has not been investigated in either market-ready steers or heifers. Therefore, the objective of this study was to determine the effects of a leptin SNP on the quality grade (QG), yield grade (YG), and weight of beef carcasses. A slaughter trial was conducted using 1,435 crossbred finished heifers and 142 crossbred finished steers as they entered the slaughter facility. Canada QG tended (main effect of genotype P = 0.16, but P < 0.01 for both CC vs. TT and CT vs. TT) to be affected by leptin genotype. Specifically, 7.6 and 7.1% more TT carcasses graded Canada AAA or higher than the CT and CC carcasses, respectively, which supports the suggestion that the leptin SNP is associated with carcass fat. The proportion of carcasses grading Canada YG 1, 2, or 3 was affected (P < 0.01, P = 0.05, and P = 0.02 for YG 1, 2, and 3) by leptin genotype. The proportion of TT carcasses of Canada YG 1 was 12.5 and 15.1% lower than that of CT and CC carcasses, respectively, indicating that rearing animals under the same management and feeding system may result in greater carcass fat and a lower probability of the proportion of carcasses grading YG 1 within certain genotypes. The carcass weights of animals with the CC genotype tended (P = 0.07) to be higher than those of the TT genotype (365.5 vs. 362.3 kg). No significant difference was observed between the TT and CT genotypes in carcass weight. The observed associations between leptin genotype and carcass characteristics may represent an opportunity to genetically identify animals that are most likely to reach specific marketing groups.     

猪EPHA1基因多态性及其与产仔数的关联性分析

研究利用PCR-SSCP技术对大白、长白和杜洛克猪EPHA1基因外显子多态性及其与产仔数的关系进行了研究。结果表明:在第15外显子上检测到一个发生G→C颠换的突变位点,形成3种基因型。对于大白猪,3~6胎的GG型个体的产活仔数(NBA)比CC型个体高出1.66头(P<0.05);在所有胎次中,GG型个体的总产仔数(TNB)比CC型个体高出0.2头(P<0.01)。对于长白猪,第2胎GG型个体的TNB和NBA分别比CC型个体高出1.41头(P<0.05)和1.46头(P<0.05);所有胎次中,GC型个体TNB比CC型个体高出0.67头(P<0.05)。对于杜洛克猪,3种基因型个体的TNB和NBA差异不显著(P>0.05)。对于试验大白猪群体而言,该多态位点GG基因型可作为TNB性状的标记基因型。     

Association of CXCR1 polymorphisms with apoptosis,necrosis and concentration of milk neutrophils in early lactating dairy heifers

Associations between polymorphisms in the candidate gene CXCR1, encoding the chemokine (C-X-C motif) receptor 1, and udder health have been identified before. In the present study, associations between the CXCR1 genotype (whole coding region) and apoptosis, necrosis, and concentration of milk polymorphonuclear neutrophilic leukocyte (PMNL) of 292 quarters belonging to 73 early lactating dairy heifers were studied. In uninfected quarters, % milk PMNL apoptosis was higher in c.980GG heifers [least squares means (LSM) 27%] compared to c.980AG heifers (LSM 16%), whereas in infected quarters, % milk PMNL apoptosis was higher in c.642GG heifers (LSM 29%) compared to c.642AG heifers (LSM 18%). Differences in milk PMNL concentration between infected and uninfected quarters were smaller in c.980AG heifers than in c.980GG heifers. An association between the CXCR1 genotype and necrosis of milk PMNL could not be demonstrated. Results indicate that CXCR1 polymorphisms influence viability and concentration of milk PMNL and provide a foundation for future research.     

拜城油鸡FSHR基因多态性及其与生产性能的关联分析

【目的】探究促卵泡激素受体(follicle stimulating hormone receptor,FSHR)基因多态性与拜城油鸡产蛋性状、蛋品质及孵化性能的关系,为选育高生产性能的种鸡提供新的分子标记。【方法】以129只拜城油鸡为研究对象,利用DNA混池重测序技术筛选SNPs位点,采取Sequenom飞行时间质谱技术进行相关位点分型,通过SPSS 26.0软件的一般线性模型进行FSHR基因多态性与拜城油鸡生产性能的关联分析。【结果】FSHR基因外显子1上存在2个SNPs位点:SNP1(g.7640519 C＞A)、SNP2(g.7640639 T＞C);外显子4和5上分别存在1个SNP位点:SNP3(g.7692270 C＞T)、SNP4(g.7698478 A＞G);外显子10上存在3个SNPs位点:SNP5(g.7716725 G＞C)、SNP6(g.7715900 A＞G)、SNP7(g.7716470 T＞C),除SNP6外,检出率均在90%以上。SNP1位点仅检测到2个基因型:CC和CA,CC为优势基因型;SNP2、SNP3和SNP7位点均存在3种基因型:TT、TC和CC;SNP4位点存在3种基因型:AA、AG和GG;SNP5位点存在3种基因型:CC、CG和GG。相关分析结果表明,SNP2位点CC基因型个体开产日龄极显著高于TT基因型(P＜0.01),显著高于CT基因型(P＜0.05);TT基因型个体蛋重显著高于CT基因型(P＜0.05),入孵蛋死胚率显著高于CC基因型(P＜0.05)。SNP3位点TT基因型个体蛋壳厚度显著高于CC基因型(P＜0.05)。SNP5位点CG基因型个体300日龄总产蛋量极显著高于CC和GG基因型(P＜0.01),300日龄平均蛋重和开产蛋重均显著高于GG基因型(P＜0.05),开产体重显著高于CC基因型(P＜0.05);GG基因型个体蛋壳厚度显著低于CC和CG基因型(P＜0.05)。SNP7位点TT基因型个体开产蛋重和个体蛋重均显著高于CC和CT基因型(P＜0.05),蛋白高度和蛋黄重均显著高于CT基因型(P＜0.05),哈氏单位值极显著高于CC和CT基因型(P＜0.01)。【结论】FSHR基因SNP5(g.7716725 G＞C)位点CG基因型可作为影响拜城油鸡产蛋性能的标记基因型,SNP7(g.7716470 T＞C)位点TT基因型可作为影响拜城油鸡蛋品质的优势基因型。     

高邮鸭肌肉生长抑制素基因(MSTN)5'调控区多态性与生长及腹脂率的关联分析

肌肉生长抑制素(Myostatin,MSTN)基因在发育和成熟的骨骼肌中特异表达,对肌肉具有负调控作用。采用PCR-SSCP技术检测了3个不同高邮鸭群体和1个绍鸭群体MSTN5'的单核苷酸多态性,并与0及3～10周龄体重和腹脂率进行相关性分析。结果:在MSTN基因5'调控区的1 046 bp处检测到C→G的突变。在4个鸭群中,均检测到3种基因型(CC、CG和GG基因型),且都以C等位基因为优势等位基因。最小二乘法分析结果表明,不同基因型对试验的4个群体鸭周龄生长无显著影响;高邮鸭3个群体间平均腹脂率无显著差异,但绍鸭腹脂率均极显著低于3个高邮鸭群体(P<0.01);不同基因型对高邮鸭3个不同群体的腹脂率均有显著影响,GG型高邮鸭腹脂率显著高于CG型和CC型(P<0.05)。就5'调控区而言,MSTN基因作为影响腹脂率的候选基因有待于进一步的研究。     

中国西门塔尔牛血管生成素样蛋白3基因多态性及其与肉质性状的关联性分析

本研究旨在分析血管生成素样蛋白3(angiopoietin-like protein 3,ANGPTL3)基因的单核苷酸多态性(SNPs)及其与中国西门塔尔牛肉质性状的关联性,寻找可用于辅助选择的分子标记。随机选取饲养条件相同的98头中国西门塔尔牛为研究对象,采用PCR-SSCP技术结合DNA测序技术检测ANGPTL3基因的SNP。运用SPSS 19.0软件对ANGPTL3基因的不同基因型与肉质性状进行关联性分析。经测序发现,ANGPTL3基因外显子4中存在1个突变位点G7358C,存在2种基因型:CD、DD。关联性分析结果表明,G7358C突变位点的不同基因型与胴体脂肪覆盖率、眼肌面积、肌内脂肪和大理石花纹差异显著相关(P0.05),CC基因型个体胴体脂肪覆盖率、眼肌面积、肌内脂肪和大理石花纹显著高于CD基因型个体(P0.05)。试验结果表明,G7358C位点的CC基因型为优势基因型,与胴体脂肪覆盖率、眼肌面积、肌内脂肪和大理石花纹等肉用性状有相关性,ANGPTL3基因有望作为分子标记辅助选择的候选基因。     

Polymorphism in promoter region of growth hormone receptor is associated with potential production capacity of insulin‐like growth factor‐1 in pre‐pubertal Holstein heifers

Insulin‐like growth factor‐1 (IGF‐1) is one of the important factors for growth, milk production and reproductive functions and mainly released from the liver in response to growth hormone (GH) via GH receptor (GHR) in cattle. Recently, some single nucleotide polymorphisms (SNPs) were identified in the bovine GHR gene. Some GHR‐SNPs were shown to be related to plasma IGF‐1 concentration in cattle. Hence, the capacity to IGF‐1 production in the liver might be affected by GHR‐SNP and associated with performance in the future. This study examined whether GHR‐SNP is associated with IGF‐1 production in the liver of pre‐pubertal heifers. In 71 Holstein calves, blood samples for genomic DNA extraction were obtained immediately after birth. To genotype the GHR‐SNPs in the promoter region, polymerase chain reaction (PCR) products were digested with restriction enzyme NsiI (cutting sites: AA, AG and GG). All heifers at 4 months of age were intramuscularly injected with 0.4 mg oestradiol benzoate. Blood samples were obtained from the jugular vein just before (0 h) and 24 h after injection. The number of AA, AG and GG at the NsiI site was 0, 17 and 54 respectively. In AG and GG, plasma GH concentrations were higher pre‐injection than 24 h post‐injection (p < 0.01). Moreover, plasma GH concentrations in AG post‐injection were higher than in GG (p < 0.05). In contrast, the GG genotype exhibited higher plasma IGF‐1 concentrations in pre‐injection than post‐injection (p < 0.01), although oestradiol did not change IGF‐1 concentration in the AG genotype. We conclude that the GG polymorphism in the promoter region of GHR is associated with a higher potential capacity of IGF‐1 production in the liver of cattle.     

Effects of bovine cytochrome P450 single-nucleotide polymorphism, forage type and body condition on production traits in cattle

Relating single-nucleotide polymorphisms (SNP) to cows with acceptable productivity could benefit cattle breeders in areas where tall fescue is the predominant forage. This study aimed to (i) identify SNPs in bovine cytochrome P450 3A28 (CYP3A28) and (ii) determine the associations between SNP genotype, forage and cow body condition (BC). Genotype (CC, CG or GG) and forage [Kentucky-31 wild-type endophyte-infected tall fescue (KY+) vs. bermudagrass] effects on milk volume and quality were determined in Herd 1 cows (123 cows); in Herd 2 (99 cows), genotype and BC (low vs. moderate) effects on ovarian follicle size, calving date and calving per cent were determined; and in Herd 3 (114 cows), effects of genotype and fescue cultivar [KY+ vs. non-toxic endophyte-infected tall fescue (HiMag4)] were related to calving per cent, calving date and weaning weights of both cow and her calf. A cytosine (C) to guanine (G) transversion at base 994 (C994G) in CYP3A28 was identified. There was a genotype × forage type interaction (p < 0.05) on milk protein in Herd 1 cows; CC cows grazing bermudagrass had greater milk protein percentage in relation to other cows in the herd. In Herd 2, BC and genotype × BC tended (p < 0.10) to influence follicle size and Julian calving date respectively. Diameter of the largest follicle tended to be larger in moderate BC than in low-BC cows; whereas, CC and CG cows in moderate BC and homozygous (CC and GG) cows in low BC tended to calve 14 days earlier in relation to CG cows in low BC. In Herd 3, there was a genotype × forage type interaction (p < 0.05) on calving per cent, Julian calving date and calf weaning weight. In this study, genetic alterations (G allele at C994G) coupled with nutritional factors (low BC and toxic tall fescue) resulted in overall lower productivity in cows.     

Assessment of Genetic Variability in the Coding Sequence of Melatonin Receptor Gene (MTNR1A) in Tropical Arid Sheep Breeds of India

Seasonal behaviour in sheep, which varies in tropical and temperate environmental conditions, is a matter of study, because it can provide a clue to address the problem of seasonality in sheep. Melatonin receptor is the membrane‐bound G‐coupled receptor, sensing the message of photoperiodic cues thorough melatonin. Restriction fragment length polymorphism (RFLP) studies were carried out to assess the variability of gene at G612A and C606T SNPs in MTNR1A gene, which have been studied to be markers for out‐of‐season breeding. Allelic frequency distribution corresponded to higher frequency of GG and CC genotype, in tropical arid sheep breed in comparison with temperate region sheep breed. PCR amplification of MTNR1A gene of 30 animals was performed and single nucleotide polymorphisms (SNPs) identification was carried out using Lasergene software. Seven SNPs/mutations were identified, but most of them were synonymous, except the one G706A, leading to substitution of valine by isoleucine. Polyphen‐2 analysis of G706A mutation revealed that it is a benign mutation. Two important SNPs C426T and G555A, which were identified in temperate sheep breeds, could not be traced in Magra and Marwari breeds of sheep. Thus, the Magra and Marwari breeds of tropical, arid region demonstrated the presence of both polymorphic SNPs markers G612A and C606T, associated with out‐of‐season breeding. GG and CC genotypes were having a higher prevalence in the studied population.     

Association of a bovine CXCR2 gene polymorphism with neutrophil survival and killing ability

Recent research in our lab has demonstrated a significant association between the incidence of subclinical mastitis and specific polymorphisms of the CXCR2 gene in Holstein dairy cows. This gene encodes a receptor for interleukin-8 (IL-8), a key regulator of neutrophil migration, killing and survival. Because of the importance of this gene in neutrophil function, we hypothesized that differences in neutrophil killing and survival may exist among the CXCR2 genotypes and potentially contribute to the observed variation in intramammary infections. To test this hypothesis, neutrophils were isolated from cows representing each CXCR2 +777 genotype (GG, GC or CC) and tested for suppression of apoptosis, reactive oxygen species (ROS) generation, glutathione levels, and bactericidal activity. A significant increase in survival was observed in neutrophils from cows with a CC genotype when compared to those with a GG genotype in response to IL-8, but not dexamethasone. In contrast, a significant reduction in neutrophil ROS generation in response to phorbol-13-myristate-12 acetate (PMA) was observed in cows with a CC genotype when compared to those with a GG genotype. However, no differences in bactericidal activity or glutathione levels were observed among genotypes. The functional activity of neutrophils from cows heterozygous for this polymorphism was intermediate between those with homozygous genotypes for those assays where differences were observed among homozygous genotypes. In summary, our results suggest that neutrophils from Holstein cows with different CXCR2 genotypes vary in their ability to suppress apoptosis and produce ROS. These differences have the potential to influence overall neutrophil function and may partially explain the variation observed with respect to mastitis in vivo. These results provide a foundation for future research aimed at better understanding the basic differences between dairy cows genetically more or less susceptible to mastitis and has the potential to provide novel preventive and therapeutic measures against inflammatory diseases such as mastitis.     

A single-nucleotide polymorphism in the 3′ untranslated region of the LPIN1 gene and association analysis with performance traits in chicken

1. A single nucleotide polymorphism (SNP), c.*77C>G, was found in the 3′ UTR of the chicken LPIN1 gene by DNA sequencing. In total, 860 chickens were genotyped by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) in a F2 resource population obtained by crossing F0 Gushi chickens and Anka broilers, and the associations of this polymorphism with chicken growth, carcass, muscle fibre traits and serum biochemistry parameters were analysed.

2. Significant associations were found between the polymorphism and breast muscle fibre diameter (FDB). Comparison of the different genotypes of c.*77C>G in the F2 resource population showed that the GG genotype had significantly higher values than that of CG genotype in FDB. c.*77C>G was predicted to cause changes to multiple microRNA (miRNA) binding sites. But the total mRNA level of chicken LPIN1, LPIN1-;α and LPIN1-β in liver and muscle tissues did not show significant difference among GG, CG and CC genotypes, respectively.

3. The results suggested that chicken LPIN1 has a potential effect on muscle fibre development, but no effect on other studied traits.     

促性腺激素释放激素受体(GnRHR)基因多态性及其与山羊产羔数的相关性分析

本研究采用候选基因法对与繁殖性能有关的遗传标记进行筛选,旨在为山羊高产仔数的标记辅助选择提供确切的遗传依据。参考牛的促性腺激素释放激素受体(Gonadotropin releasing hormone receptor,GnRHR)基因序列设计4对引物,采用聚合酶链式反应-单链构象多态性(PCR-SSCP)技术检测GnRHR基因在波尔山羊以及我国西南地区9个地方山羊品种中的单核苷酸多态性(Single nucleotide polymorphism,SNP),同时在川东白山羊、古蔺马羊和贵州白山羊3个群体中研究该基因多态性与山羊产仔数之间的相关性。结果显示,4对引物中只有引物P1扩增片段检测出多态性。对于P1的扩增片段,在不同的山羊品种中检测到AA、GG和AG 3种基因型,测序分析表明GG与AA型相比有一处单碱基突变(154G→A)。AA基因型个体在3个群体中产羔数最小二乘均值都显著高于GG和AG基因型个体(P<0.05),GA基因型个体在古蔺马羊中的产羔数显著高于GG型个体(P<0.05),而在其它2个品种中差异不显著(P>0.05)。本研究结果初步表明山羊GnRHR基因的突变与其繁殖性能有关,可能是影响山羊繁殖率的一个因素。     

Two single nucleotide polymorphisms in the promoter of the ovine myostatin gene (MSTN) and their effect on growth and carcass muscle traits in New Zealand Romney sheep

Myostatin is a negative regulator of muscle growth and development in mammals, and variation in ovine myostatin gene (MSTN) has been demonstrated to be associated with variation in the muscularity of sheep. Polymerase chain reaction–single‐stranded conformational polymorphism (PCR–SSCP) was used to look for single nucleotide polymorphisms (SNPs) in a 304‐bp amplicon from the promoter region of ovine MSTN. Sequence analyses revealed two previously identified SNPs (c.?2449G/C and c. ?2379T/C) that resulted in three haplotypes (H₁ (c.[?2449G; ?2379C]), H₂ (c.[?2449C; ?2379C]) and H₃ (c.[?2449G; ?2379T]). The effect of these SNPs on growth and carcass traits was investigated in 357 NZ Romney lambs. General linear mixed‐effect models revealed that sheep with the genotype c.?2449GC had a higher loin meat yield (p = 0.032) and proportion loin yield (p = 0.028), than those with the genotype c.?2449GG. The genotype c.?2379CC was associated with an increase in three weight traits: birthweight (p = 0.003), tailing weight (p = 0.009) and weaning weight (p = 0.028), when compared with the genotype c.?2379TC, but it was not found to have an association with growth rate. This suggests that c.?2379T/C has an effect that originates at, or before birth. Haplotype H₃ was associated with a decrease in birthweight (p = 0.002), tailing weight (p = 0.003) and weaning weight (p = 0.011). Haplotype H₂ was associated with increased loin yield (p = 0.012) and proportion loin yield (p = 0.002). The SNPs may have value as genetic markers for improved Romney breeding.