A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds

Background

Hereditary ataxias with similar phenotypes were reported in the Smooth-Haired Fox Terrier, the Jack Russell Terrier and the Parson Russell Terrier. However, segregation analyses showed differing inheritance modes in these breeds. Recently, molecular genetic studies on the Russell group of terriers found independent mutations in KCNJ10 and CAPN1, each associated with a specific clinical subtype of inherited ataxia. The aim of this study was to clarify whether or not Smooth-Haired Fox Terriers with hereditary ataxia and dogs of other related breeds harbor either of the same mutations. A sub goal was to update the results of KCNJ10 genotyping in Russell group terriers.

Findings

Three Smooth-Haired Fox Terriers with hereditary ataxia and two Toy Fox Terriers with a similar phenotype were all homozygous for the KCNJ10 mutation. The same mutation was also found in a heterozygous state in clinically unaffected Tenterfield Terriers (n = 5) and, in agreement with previous studies, in Jack Russell Terriers, Parson Russell Terriers, and Russell Terriers.

Conclusions

A KCNJ10 mutation, previously associated with an autosomal recessive spinocerebellar ataxia in Jack Russell Terriers, Parson Russell Terriers, and Russell Terriers segregates in at least three more breeds descended from British hunting terriers. Ataxic members of two of these breeds, the Smooth-Haired Fox Terrier and the Toy Fox Terrier, were homozygous for the mutation, strengthening the likelihood that this genetic defect is indeed the causative mutation for the disease known as “hereditary ataxia” in Fox Terriers and “spinocerebellar ataxia with myokymia, seizures or both” in the Russell group of terriers.     

Cataracts in Labrador Retriever and Jack Russell Terrier From the United Kingdom: A Two-Year Retrospective Study

Cataracts are among the most common ocular diseases, and are a leading cause of vision loss in humans and dogs. Jack Russell Terriers (JRT) and Labrador Retrievers (LR) are among the most popular canine breeds in the United Kingdom, and also among the most affected by cataracts.This study aimed to analyze the clinical features and the surgical outcome of cataracts in JRT and LR in an ophthalmologic reference Veterinary Hospital in the United Kingdom. For that purpose, medical records from JRT and LR diagnosed with cataracts between January 2015 and December 2016 were retrospectively evaluated. Data related to identification, clinical history, preoperative features, and surgical outcomes were analyzed.Forty-four dogs (81 eyes), including 26 JRT and 18 LR, were enrolled in the study. Mean ages were 10.2 ± 3.2 years in JRT and 8.5 ± 3.7 years in LR. Twenty-eight (63.6%) were females and 16 (36.4%) were males. Most dogs (84.1%) presented with bilateral cataracts. Nuclear and cortical cataracts were the most prevalent type in both breeds (JRT: n?=?30, 61.2%; LR: n?=?16, 50.0%), although subcapsular cataracts were also frequent in LR (n?=?10, 31.3%). Significant differences in cataract location within the lens were detected between the two breeds (P?=?.002).Senile in JRT (n?=?7) and genetic in LR (n?=?7) were the most common etiologies. Concomitant ocular lesions were more frequent in dogs presented with cataracts in advanced stages, and included lens (n?=?18; JRT: n?=?15; LR: n?=?3) and retinal alterations (n?=?8; JRT: n?=?2; LR: n?=?6), and glaucoma (n?=?6; JRT: n?=?5; LR: n?=?1). Thirty-three animals (75.0%, 51 eyes) were submitted to phacoemulsification with intraocular lens placement. Of these, 28 eyes (54.9%; JRT: n?=?21; LR: n?=?7) were visual, 19 eyes (37.3%; JRT: n?=?11; LR: n?=?8) presented impaired vision and four eyes (7.8%; JRT: n?=?0; LR: n?=?4) were blind at last clinical record. Postoperative complications were detected in 11 eyes (21.6%), and were more frequent in dogs presented with cataracts in advanced stages.These results and the multifactorial nature of cataracts call for further studies to identify and characterize the variables in a broader assessment, including other breeds and influencing factors.     

A truncated retrotransposon disrupts the GRM1 coding sequence in Coton de Tulear dogs with Bandera's neonatal ataxia

Background: Bandera's neonatal ataxia (BNAt) is an autosomal recessive cerebellar ataxia that affects members of the Coton de Tulear dog breed. Objective: To identify the mutation that causes BNAt. Animals: The study involved DNA from 112 Cotons de Tulear (including 15 puppies with signs of BNAt) and 87 DNA samples from dogs of 12 other breeds. Methods: The BNAt locus was mapped with a genome‐wide association study (GWAS). The coding exons of positional candidate gene GRM1, which encodes metabotropic glutamate receptor 1, were polymerase chain reaction (PCR)‐amplified and resequenced. A 3‐primer PCR assay was used to genotype individual dogs for a truncated retrotransposon inserted into exon 8 of GRM1. Results: The GWAS indicated that the BNAt locus was in a canine chromosome 1 region that contained candidate gene GRM1. Resequencing this gene from BNAt‐affected puppies indicated that exon 8 was interrupted by the insertion of a 5′‐truncated retrotransposon. All 15 BNAt‐affected puppies were homozygous for the insert, whereas all other Cotons de Tulear were heterozygotes (n = 43) or homozygous (n = 54) for the ancestral allele. None of the 87 dogs from 12 other breeds had the insertion allele. Conclusions and Clinical Importance: BNAt is caused by a retrotransposon inserted into exon 8 of GRM1. A DNA test for the GRM1 retrotransposon insert can be used for genetic counseling and to confirm the diagnosis of BNAt.     

遗传平衡定律的推广形式及其应用

综合论述了遗传平衡定律在复等位基因、多基因座、近交群体和人工选择情况下的推广形式、形成机理及其应用。     

三个鸡品系的遗传差异与杂种优势关系的研究

采用RAPD标记分析了武定鸡快羽系、绿壳蛋系和合成系间的遗传差异,进行了三个鸡品系间的杂交试验,并应用简单的线性相关分析了遗传距离指数与杂种优势的关系。分析结果表明快羽系与绿壳蛋系间的遗传差异较小,而快羽系与合成系间的遗传差异较大。品系间遗传距离指数与F1代各性状观察值均为正相关,但相关不显著;与杂种优势率之间也均为正相关,但只与13周龄存活率、种蛋受精率有显著的相关关系。表明RAPD标记在预测杂种优势上具有一定参考价值。     

Effect of sire mating patterns on future genetic merit and inbreeding in a closed beef cattle population

Summary Alternative breeding strategies were simulated based on the population structure of the Tajima strain of Japanese Black cattle. An analysis of the population structure revealed that some sires up to 20 years of age have been used in Tajima. In addition, 95% of newborn calves were the progeny of only 20 sires, and their mating frequencies were significantly skewed. The current average inbreeding coefficient and founder genome equivalents of the strain were estimated to be 0.199 and 2.25, respectively. Average inbreeding coefficient is expected to reach 0.394 within 27 years. Thus, different breeding strategies were assessed for their effect on the level of inbreeding and average genetic merit. We compared strategies that (1) halve the sire service period, (2) double the number of mating sires and (3) lower the skewed sire mating frequency and optimize the frequency for weighted genetic merit and diversity. Reducing the service period yielded a 7.0–12.0% reduction in the rate of inbreeding while maintaining almost the same genetic gain. Increasing the number of sires resulted in a 19.3–21.3% reduction in inbreeding with a corresponding 1.6–8.4% reduction in gain. The rates of inbreeding from the optimized strategies decreased as the weight on genetic diversity increased. However, a strategy that emphasized only genetic gain yielded lower gain than other strategies because the strategy allowed only one sire to mate, resulting in reduced genetic variance and low accuracy of genetic evaluation. In contrast, a strategy with no emphasis on genetic gain when determining mating frequency resulted in reductions of 16.0% and 63.2% in genetic gain and inbreeding, respectively. The strategies examined here are easily applicable and can be expected to reduce immediate loss of genetic diversity.     

桑树资源综合利用研究进展

我国桑树资源丰富,全国各地都有栽培．本文对桑树的果、叶、根、枝在医药、食品、化工、畜牧业等方面综合利用进行了综述,为桑树资源将来进一步开发利用提供了科学依据。     

血清和饲养层对水牛精原干细胞体外培养的影响

本研究首先将水牛睾丸经二步酶消化法制成单细胞悬液,依次采用差速贴壁法和Percoll不连续密度梯度离心法分离和纯化精原细胞。在制备好的小鼠胎儿成纤维细胞饲养层上,采用含2．5％血清的培养液对精原细胞进行体外培养,观察血清和成纤维细胞对精原细胞生长的影响,并在体外成功培养了2周通过提取体外培养精原干细胞总FZNA,设计引物并对其进行基因鉴定和免疫细胞化学鉴定,证实体外培养所得的细胞仍保持有精原干细胞的特性,并且该克隆是处在未分化状态的精原干细胞形成的。上述研究可为体外建立水牛精原干细胞长期培养体系提供技术支撑。     

Influence of management and genetic merit for milk yield on the oxidative status of plasma in heifers

This study was part of a larger study that addressed whether milk production levels affect health risks in dairy cows as influenced by genetic merit for milk yield and management factors. Plasma samples were collected from 80 Holstein Friesian heifers at 2 weeks pre-partum and at 4 and 8 weeks post-partum in a 2 × 2 × 2 factorial arrangement design with the factors breeding value for milk production (high or low), milking frequency (2 or 3 times a day) and feed energy density (high or low). The following parameters indicative of the oxidative status were measured in plasma: ferric reducing ability of plasma (FRAP), α-tocopherol level, glutathione peroxidase activity (GSH-Px), superoxide dismutase activity (SOD), thiobarbituric acid reactive substances (TBARS) concentration and paraoxonase activity (PON). There was a significant effect of time for FRAP, α-tocopherol, GSH-Px and SOD, indicating changes in the plasma oxidative status around parturition. A high merit for milk yield, three-times-daily milking and especially feeding the high energy feed all stimulated milk production level. However, the influence on oxidative status parameters was minimal. Only the FRAP value was significantly lower in the high compared to the low energy group. Cows seem to undergo some oxidative stress around parturition, which can make them more susceptible to disorders. However, there were no clear indications that breeding value, milk frequency or feed energy level jeopardizes heifers in a way oxidative stress became critical.     

Preliminary investigations on the effects of a Strongylus vulgaris larval extract,mononuclear factors and platelet factors on equine smooth muscle cells in vitro

Factors involved in the proliferation of equine vascular smooth muscle cells were studied in vitro. The most prominent proliferative responses in cultured vascular smooth muscle cells were induced by Strongylus vulgaris larval antigen extract (LAE) and platelet-derived factors. Less significant proliferative responses were obtained with conditioned media from S. vulgaris LAE stimulated and from unstimulated equine mononuclear leukocytes. Additionally, vascular smooth muscle cells exposed to S. vulgaris LAE developed numerous perinuclear vacuoles and were more spindle-shaped than control or smooth muscle cells exposed to other factors. Equine mononuclear leukocytes exposed to LAE developed prominent morphological changes, including enlargement, clumping and increased numbers of mitotic figures.     

Estimation of additive and non-additive genetic parameters for reproduction, growth and survival traits in crosses between the Moroccan D'man and Timahdite sheep breeds

Genetic breed differences, heterosis, recombination loss, and heritability for reproduction traits, lamb survival and growth traits to 90 days of age were estimated from crossing D'man and Timahdite Moroccan breeds. The crossbreeding parameters were fitted as covariates in the model of analysis. The REML method was used to estimate (co)variance components using an animal model. The first estimation of crossbreeding effects for Timahdite and D'man breeds shows that breed differences in litter traits are mainly of maternal genetic origin: +1.04 lambs, +1.88 kg, +0.60 lambs, and +2.23 kg in favour of D'man breed for litter size at lambing, litter weight at lambing, litter size at weaning, and litter weight at 90 days, respectively. The breed differences in lamb growth and survival are also of maternal genetic origin for the majority of traits studied, but in favour of the Timahdite breed: +3.48 kg, +45 g day⁻¹ and +0.19 lambs for weight at 90 days, for average daily gain between 30 and 90 days of age, and for lamb survival to 90 days, respectively. The D'man direct genetic effect was low and negative for survival and birth weight of lambs during the first month of life. All traits studied showed positive heterosis effects. Recombination loss effects were not significant. Therefore, crossbreeding of Timahdite with D'man breeds of sheep can result in an improved efficiency of production of saleable lambs. Heritability estimates were medium for litter size but low for the other reproduction traits. Direct heritabilities were low for body weights and lamb survival at 90 days and the corresponding maternal heritabilities showed, however, low to moderate estimates. For litter traits, the estimates of genetic and phenotypic correlations were positive and particularly high for genetic correlations.     

成都郊区苗木及草坪经济发展趋势与对策探讨

以成都郊区温江为例,利用大量的调查数据分析了该地区苗木及草坪发展的现状及面临的问题,并有针对性的提出了几点对策。     

Estimation of phenotypic and genetic parameters for weight gain and weight at fixed ages in the double-muscled Belgian Blue Beef breed using field records

In the double‐muscled Belgian Blue beef (DM‐BBB) breed, selection focuses on muscular conformation and not on weight gain and higher weight. There are very few studies on growth in the DM‐BBB using field records. Therefore, farms have no available useful figures on weight at fixed ages and weight gain for the DM‐BBB. This study describes and evaluates live weights of DM‐BBB animals. All the data were gathered on farms in Belgium. It was found that a male DM‐BBB weighs an average of 51 kg at birth, 98 kg at 3 months, 242 kg at 7 months, 430 kg at 13 months and 627 kg at 20 months. Between the age of 7 and 20 months, weight gain is more than 1200 g a day. Females weigh 47 kg at birth, 96 kg at 3 months, 189 kg at 7 months and 332 kg at 13 months. For males, estimates of heritability for weights at 7, 13 and 20 months were between 0.21 and 0.36. The heritability for weight gain between 13 and 20 months was 0.13. This demonstrates that it is possible to select for higher weights and for increased growth between 13 and 20 months. Animals having high weights at a young age (7 and 13 months) tend to have also high weight at slaughtering age (20 months; r_g between 0.81 and 0.98), but no additional growth between 13 and 20 months (r_g between −0.09 and 0.00). High weight at 20 months is partially due to growth between 13 and 20 months (r_g = 0.49).     

马骡实验性急性放射病淋巴细胞和肝细胞DNA含量变化及与病程和病变的关系

用显微分光光度法检测了8匹马骡受~(60)Co-γ射线200拉德全身照射前、后外周血淋巴细胞的DNA含量,发现照后第2dDNA含量明显下降,第10d仍继续下降,第25d有回升的趋势,但未达到照射前的水平。同法检测了12匹照后发病死亡或迫杀的马骡与6匹健康对照马的肝细胞的DNA含量,同时进行了形态学对比观察,发现发病死亡马骡肝组织病变明显;照后47d临床症状基本消失的骡,肝组织病变极轻,其DNA含量高于死亡病例,但低于健康对照马。     

Multiple genetic typing of Salmonella Enteritidis phage-types 4, 6, 7, 8 and 13a isolates from animals and humans in the UK

Salmonella enterica serovar Enteritidis is a common cause of salmonellosis in people in the UK. This study aimed to assess the degree of genetic diversity among animal and human isolates from UK, Wales and northern Ireland. A total of 250 isolates from humans (n=59) and animals or their environment (n=191), belonging to the most common phage-types, were fingerprinted by a combination of PFGE, PS ribotyping and plasmid profiling. The different techniques identified different degrees of polymorphism (PS ribotyping (52 types)>PFGE (22 types)>plasmid profiling (17 types)). A prevalent genomic clone, as well as a variety of less frequent clones are present for each of the phage-types. In most cases, the prevalent clones appeared within isolates from several animal species and from several geographical locations. The percentage of sporadic clones found in animal and human populations were very similar. There was not clear evidence of a higher degree of diversity for human or animal isolates. Some clones were found to be present in both human and animal.     

Scintigraphic evaluation of intra-arterial and intravenous regional limb perfusion of allogeneic bone marrow-derived mesenchymal stem cells in the normal equine distal limb using (99m) Tc-HMPAO

Reasons for performing study: Mesenchymal stem cells (MSCs) are commonly injected intralesionally for treatment of soft tissue injuries in the horse. Alternative routes of administration would be beneficial for treatment of lesions that cannot be accessed directly or to limit needle‐induced iatrogenic damage to the surrounding tissue. Objectives: The purpose of our study was to evaluate MSC distribution after intra‐arterial (IA) and intravenous (IV) regional limb perfusions (RLP) using scintigraphy. We hypothesised that MSCs would persist in the distal limb after tourniquet removal and that both techniques would lead to diffuse MSC distribution. Methods: Six horses were used in the study. MSCs were labelled with hexamethyl propylene amine oxime (HMPAO) and technetium‐99m. RLP was performed through the median artery of one forelimb and the cephalic vein of the opposite limb under general anaesthesia. The tourniquet was left in place for 45 min. Scintigraphic images were obtained at 0, 45, 75 min, 6 h and 24 h post injection. Results: Distribution of labelled MSCs through the entire distal limb was achieved with all 6 IA RLP, but 3 out of 6 IV RLP showed poor or absent uptake distal to the metacarpus. Mesenchymal stem cell persistence was 39% (30–60%) and 28% (14–50%) (median [minimum–maximum]) at 6 h for IA and IV RLP, respectively. Severe arterial thrombosis occurred in one horse after IA RLP. Conclusions: Both IA and IV RLP of the distal limb result in MSC persistence in perfused tissues. The IA perfusion resulted in more reliable cell distribution to the pastern and foot area. Potential relevance: Regional limb perfusion of MSCs might be used in cases where intralesional injection is not possible or in order to avoid iatrogenic needle damage. Further work is needed to assess the safety of IA RLP before its clinical use.     

维生素A对秸杆NDF瘤胃降解率的影响

试验采用3×3拉丁方设计,肉牛日粮中维生素A含量分别为1180国际单位、18680国际单位和36180国际单位,通过对瘤胃挥发性脂肪酸浓度和玉米秸秆NDF降解率的测定,结果表明维生素A36180国际单位较维生素A1180国际单位组能显著提高瘤胃中乙酸浓度和玉米秸杆NDF有效降解率(p＜0.05).