斑点蒙古马TRPM1和RFWD3基因分型及分子选育方案制定

被毛颜色不仅是品种和个体鉴别的重要依据,而且也是制定选育方案时需要考虑的重要性状之一。TRPM1和RFWD3是决定豹点毛色表型的2个关键候选基因。本研究首次将60匹斑点蒙古马为研究对象,对2个基因进行分型,从分子水平对其毛色做出鉴定,验证斑点蒙古马的毛色基因型是否与已公布的马豹点毛色研究结果一致。结果:60匹斑点蒙古马TRPM1基因与对照组(非斑点毛色马)相比,均存在C/T(ECA1 108 249 293)杂合位点;通过测定RFWD3基因的3′调控区序列, ECA3 23 658 447上存在3种不同的多态性,分别为T/T、T/G和G/G。本研究为今后斑点蒙古马的分子育种奠定理论基础。     

哈萨克马遗传资源特征研究

为了解新疆哈萨克马的遗传资源特征,试验采用资源调查及体尺测量等方法,对新疆哈萨克马进行体尺、表型、毛色等方面的调查、测量。结果表明:新疆哈萨克马的毛色种类非常丰富,几乎涵盖了全球马毛色种类的90%以上;哈萨克马体尺数据的影响因素可能包括哈萨克马所处环境和地域分布,新疆哈萨克马与哈萨克斯坦的哈萨克马之间差距比较大,这个与选育程度有关;生态环境有差异的阿勒泰地区哈萨克马与伊犁地区哈萨克马在外貌上有一定的区别,阿勒泰地区哈萨克马体型较粗壮,被毛、长毛较发达,冬季绒毛长而密,毛色种类较丰富;伊犁地区哈萨克马体型紧凑,被毛比阿勒泰地区哈萨克马稀少,毛色种类比较单一。     

牛毛色与角的遗传方式及其表型分布的预测

毛色与角作为质量性状,是牛的两个重要品种特征.在一个地方杂种牛群中,毛色分黑毛与红毛两种表型,角分有角和无角.统计该牛群毛色与角每个表型的出现次数,据此推断毛色与角的遗传方式,并预测有限群体中杂交后代可能出现的各种性状组合的概率,对指导牛品种选育改良具有重要的现实意义.     

猪毛色遗传机制的研究进展

毛色是家猪重要的品种特征之一,是一种易观察的表型遗传标记,在育种实践中可用于分析品种的纯度、亲缘关系和确定杂交组合类型等,因而,毛色遗传机制的研究倍受育种学家的关注。本文综述了猪毛色类型、形成与遗传机制及其毛色相关基因的近期研究进展。     

毛皮动物毛色调控基因的研究进展

狐、貉、貂等毛皮动物毛纤维颜色丰富,含有多种天然毛色,主要由遗传基因决定。掌握调控毛皮动物毛色基因的作用机制,可以有效控制毛皮动物毛色的转变。动物毛色表型与其体内黑色素的种类、数量、合成及分布有关。在动物皮肤组织中,MC1R基因、Agouti基因、TYR基因、CBD103基因、SILV基因和KIT基因都参与毛色的形成与调控,文章对这些调控毛皮动物毛色的候选基因、作用机理及其与毛色表型的相关性研究进行了综述。     

新桃源猪毛色遗传的初步探讨

通过对横交固定的种猪先进进行毛色测交，再且群开展继代选育，解决了靠毛色表型选择进展缓慢的难题，提高了毛色选择效率，继而几个世代对毛色的表型选择，棕杂毛出现的频率由１世代的３．４％和５世代０．０％，基本达到了黑色素基因的纯合，黑色毛为新桃源品种特征。     

蒙古斑点马黑、白毛色区域皮肤中相关基因的表达研究

本试验以蒙古斑点马为研究对象,分别对蒙古斑点马体躯白色区域和黑色区域皮肤的表型和差异表达基因进行分析并验证,试图解析蒙古斑点马毛色形成的分子机制,为今后保护和开发利用蒙古斑点马奠定基础.选择蒙古斑点马体躯白色和黑色区域皮肤制作组织切片,HE染色后在显微镜下观察其表型差异;对白色和黑色区域皮肤组织进行转录组测序,比较差异...     

水貂毛色性状遗传机理解析及优良品种培育研究进展

被毛颜色作为一个直观且易被识别的重要经济性状,在水貂优良品种培育过程中备受关注。不同毛色皮张的品质和价格也存在一定的差异,因此,探明水貂毛色遗传机理已成为育种者不可避免的问题。作者从遗传学角度对水貂的毛色进行分类,对决定其毛色性状的黑素亲和素（MLPH）、溶酶体转运调节基因（LYST）、酪氨酸酶相关蛋白1（TYRP1）、小眼畸形相关转录因子（MITF）、酪氨酸酶（TYR）、刺鼠信号蛋白（ASIP）、内皮素受体（EDNRB）基因与配对盒基因3（Pax3）转录因子的DNA序列变异与毛色表型之间的关系进行了综述,并概述了中国在培育水貂优良品种方面取得的重要成果,以期为今后系统性研究水貂毛色形成机理、制定育种目标与方案及新色型品种的选育提供借鉴和参考。     

水貂毛色性状遗传机理解析及优良品种培育研究进展

被毛颜色作为一个直观且易被识别的重要经济性状,在水貂优良品种培育过程中备受关注。不同毛色皮张的品质和价格也存在一定的差异,因此,探明水貂毛色遗传机理已成为育种者不可避免的问题。作者从遗传学角度对水貂的毛色进行分类,对决定其毛色性状的黑素亲和素(MLPH)、溶酶体转运调节基因(LYST)、酪氨酸酶相关蛋白1(TYRP1)、小眼畸形相关转录因子(MITF)、酪氨酸酶(TYR)、刺鼠信号蛋白(ASIP)、内皮素受体(EDNRB)基因与配对盒基因3(Pax3)转录因子的DNA序列变异与毛色表型之间的关系进行了综述,并概述了中国在培育水貂优良品种方面取得的重要成果,以期为今后系统性研究水貂毛色形成机理、制定育种目标与方案及新色型品种的选育提供借鉴和参考。     

犬毛色相关基因的研究进展

毛色是犬重要的外貌特征之一,其对品种犬的种用价值和经济价值具有决定性作用。近年来的研究显示,犬毛的颜色主要由遗传基因决定,对调控犬毛色相关基因作用机制及其与毛色表型相关性的深入研究,可为高效选育犬的毛色性状和加快犬的选育进程提供新的途径,故该领域的研究日益受到重视。文章重点综述了犬毛色相关基因MC1R基因、Agouti基因、TYRP1基因、CBD103基因、MITF基因、MLPH基因和PMEL基因的结构、作用机制及其与犬毛色表型的相关性等研究进展,以其为相关领域研究提供理论借鉴。     

黑色素皮质激素受体1基因248位点多态性与中国马品种毛色的相关性分析

在欧洲马品种中,黑色素皮质激素受体1(melanocortin receptor 1,MC1R)基因第248位碱基有C/T多态性,纯合的T248位点决定欧洲马的栗毛色。针对MC1R基因的248位点设计了2对特异性引物,采用等位基因特异性PCR技术,研究3个中国马品种MC1R基因型与栗色毛之间的关系。经扩增获得两种DNA片段,克隆测序后证明,扩增片段确为MC1R基因,两种DNA片段序列在基因的248位点的确呈现C/T多态性,但检测126份贵州矮马、西南马和新疆伊犁马血液样本,全部为杂合基因型(Ee),其中包括栗毛、黑毛、骝毛3种单毛色及3种复毛色。这些研究结果提示,MC1R基因中248位点的多态性与国内3个马品种的栗色毛之间没有直接的相关性。     

Genetic Testing and the Future of Equine Genomics

Genetic tests are now available for most coat color traits and many simple Mendelian diseases in the horse. The horse genome sequence was completed in 2006, with sequence available online to researchers in June of that year. This wealth of new data has already been exploited to provide some very powerful tools that can be used to define more simply inherited diseases in horses at the molecular level, as well as potentially more complex diseases. With the continued availability of genetic testing in horses, veterinarians, and particularly reproduction experts, need to have a good basic understanding of these tests to assist their clients in making informed breeding decisions.     

Horse breeding: genetic tests for the coat colors chestnut,bay and black. Results from a preliminary study in the Swiss Freiberger horse breed

Coat color played an important role during domestication and formation of breeds. Livestock breeders often had special preferences for particular color phenotypes because they believed them to be associated with performance or fitness traits. Socio-cultural reasons might have had an influence on color selection as well. Recently genetic tests on DNA level got available to genotype in any individual horse for basic horse coat colors (chestnut, bay, black). In particular, hidden carriers of the recessive chestnut and black allele are recognizable with these tests. A sample of 162 Franches-Montagnes horses from Switzerland was genotyped for the alleles for chestnut and black. The analysis of allele frequencies revealed a high prevalence of the chestnut allele and a low frequency of the black allele in this population. Rare colors are in demand on the market. The statistical analysis of 1369 offspring from five stallions indicate, that darker shades of basic color phenotypes (dark chestnut, dark bay) follow a recessive mode of inheritance in the Franches-Montagnes horse breed.     

蒙古马突触融合蛋白17(STX17)基因多态性及在不同毛色皮肤组织中的表达分析

为研究突触融合蛋白17(STX17)基因与蒙古马毛色之间的相关性及其作用机制.本研究利用半巢式PCR技术及实时荧光定量PCR技术对蒙古马STX17基因第6内含子的多态性以及不同毛色蒙古马皮肤组织中STX17基因的相对表达量进行了检测.巢式PCR结果显示:STX17基因在青毛蒙古马第6内含子处存在4.6 kb的重复片段,在其它毛色中不存在该重复片段;荧光定量PCR结果显示:STX17基因在蒙古马青毛皮肤组织中表达量最高,在骝毛皮肤组织中的表达量最低.结果证明蒙古马STX17基因与其青毛表型具有典型的相关性.     

Congenital stationary night blindness is associated with the leopard complex in the Miniature Horse

Objective To determine if congenital stationary night blindness (CSNB) exists in the miniature horse in association with leopard complex spotting patterns (LP), and to investigate if CSNB in the miniature horse is associated with three single nucleotide polymorphisms (SNPs) in the region of TRPM1 that are highly associated with CSNB and LP in Appaloosas. Animals studied Three groups of miniature horses were studied based on coat patterns suggestive of LP/LP (n = 3), LP/lp (n = 4), and lp/lp genotype (n = 4). Procedures Horses were categorized based on phenotype as well as pedigree analysis as LP/LP, LP/lp, and lp/lp. Neurophthalmic examination, slit‐lamp biomicroscopy, indirect ophthalmoscopy, and scotopic flash electroretinography were performed on all horses. Hair samples were processed for DNA analysis. Three SNPs identified and associated with LP and CSNB in the Appaloosa were investigated for association with LP and CSNB in these Miniature horses. Results All horses in the LP/LP group were affected by CSNB, while none in the LP/lp or lp/lp groups were affected. All three SNPs were completely associated with LP genotype (χ² = 22, P << 0.0005) and CSNB status (χ² = 11, P < 0.0005). Conclusions The Miniature Horse breed is affected by CSNB and it appears to be associated with LP as in the Appaloosa breed. The SNPs tested could be used as a DNA test for CSNB until the causative mutation is determined.     

家畜毛色形成分子基础及应用研究进展

动物毛色是一种容易被识别的表型,也可作为筛查某些疾病的有效手段。毛色主要由黑色素细胞产生的真黑色素和棕黑色素的分布、比例和产生速率所决定。许多基因对黑色素的产生和分布起着重要调控作用,各基因间的不同基因型形成多种基本毛色、淡化毛色和花斑。此外,miRNA靶向结合毛色主效基因mRNA,诱导抑制/增强其转录翻译过程,从而调控毛色基因的表达,影响黑色素合成。文章简述了家畜调控毛色的主效基因黑色素皮质素受体1（MC1R）、野灰位点信号蛋白（ASIP）、原癌基因（KIT）、酪氨酸酶关联蛋白（TYRP）、小眼畸形相关转录因子（MITF）和内皮素受体B（EDNRB）的DNA序列多态性（不同基因型）与毛色性状、疾病之间的关系;介绍了毛色形成相关miRNA挖掘鉴定、miRNA调控毛色相关基因研究进展与毛色基因研究应用价值,旨在为今后研究家畜毛色机理提供理论依据。     

德保矮马与哈萨克马 KIT 基因多态性分析

 马毛色是品种鉴定和个体识别的重要依据。马 KIT 基因位于3号染色体,KIT 基因突变影响马毛色及毛色的分布。对德保矮马和哈萨克马69个个体的 KIT 基因21个外显子及部分内含子直接测序,共发现了5个SNPs,其中1个位于5'-UTR区（g.91214T>G）,1个位于内含子20 （g.171356C>G）,另外3个分别位于外显子15、20和21(g.164297C>T;g.170189C>T;g.171471G>A,p.Ala960Thr)。用PCR-RFLP方法对69个个体进行分型,发现外显子15有3种基因型TT、CT、CC;外显子20有3种基因型TT、CT、CC;外显子21有2种基因型GG与GA,且均为野生型占优势。德保矮马 KIT 基因多态性比哈萨克马更丰富。     

Genetic mapping of dominant white (W), a homozygous lethal condition in the horse (Equus caballus)

Dominant white coat colour (W) is a depigmentation syndrome, known in miscellaneous species. When homozygous in the horse (similar in mice), the mutation responsible for the white phenotype is lethal in a very early stage of gestation. It seems, that the action of the dominant white allele is not always fully penetrant, resulting occasionally in spotted look alike offspring. These horses resemble a coat colour pattern known as sabino spotting. So far, it is not known whether dominant white (W) and sabino spotting (S) share a common genetic background. In this study, a pedigree consisting of 87 horses segregating for dominant white (W) was used to genetically localize the horse (W)‐locus. Microsatellite ASB23 was found linked to (W), which allowed us to map dominant white to a region on horse chromosome 3q22. Tyrosine kinase receptor (KIT) was previously mapped to this same chromosome region (3q21–22). KIT and its ligand (KITLG) are responsible for the normal function of melanogenesis, haematopoiesis and gametogenesis. So far, sequence analysis of different KIT gene fragments did not lead to new polymorphisms, except for a SNP detected in KIT intron 3 (KITSNPIn3). Additional microsatellites from ECA3q (TKY353 and LEX7), together with KITSNPIn3 allowed us to state more precisely the (W)‐mutation. The positional results and comparative functional data strongly suggest that KIT encodes for the horse (W)‐locus.     

Population Statistics and Biological Traits of Endangered Kiso Horse

The objective of this study was to clarify the current status of endangered Kiso horse, population statistics and biological traits, in order to take a step for the conservation by scientific approach. We surveyed 125 Kiso horses (86.2% of the whole breed), analyzed the construction of the population, and calculated the coefficient of inbreeding and effective population size. Moreover, we confirmed coat color variations and the traditional traits of the Kiso horse, and measured their height at the withers and chest circumference to clarify their physical characteristics. The population pyramid of the horses was stationary or contractive, suggesting a reduction of the population in the near future. The effective population size of the horse (47.9) suggested that the diversity was much less than their census size, and the high coefficient of inbreeding, 0.11 ± 0.07 on average, suggested that the horses were surely inbred. The horses had only 4 coat colors; bay, dark bay, buckskin dun, and chestnut, and 116 horses (92.8%) were bayish color, suggesting the fixation in their coat color. Moreover, the majority of them had dorsal stripe (83 horses; 66.4%), and the average heights at withers(131.9 ± 4.4 cm) and chest circumference (167.1 ± 10.1 cm) were not significantly different between males and females.     

玉树马和德保矮马SLC36A1基因多态性研究

 控制马香槟毛色的CH（Champagne gene）基因家族包含4个候选基因（SLC36A1、SLC36A2、SLC36A3、SPARC）,研究发现SLC36A1基因外显子2的突变是造成马香槟毛色的关键位点。为揭示中国马SLC36A1基因遗传多态性,本研究以玉树马和德保矮马共74个样本为研究对象,以马DNA池为模板扩增SLC36A1基因的10个外显子及部分内含子序列并进行测序分析。共发现马SLC36A1基因5个SNPs,分别位于内含子3（g.26699953 A>G, g.26699851 G>C, g.26699850 G>C）,外显子4（g.26699562 G>A）及外显子6（g.26697018 C>T）。利用PCR RFLP方法对74个家马样本进行基因分型,发现外显子6的SNP有基因型CC、CT;外显子4的SNP有基因型GG、GA;内含子3的g.26699850 G>C突变有基因型GG、GC;内含子3的另外2个SNPs（g.26699953 A>G, g.26699851 G>C）通过测序,发现有AA、AG、GG与GG、GC、CC基因型。所有5个马SNPs均为野生型占主要优势。由此界定了马SLC36A1基因有9种单倍型（H1 H9）,其中H5是最主要的单倍型。德保矮马遗传多样度为0.4190,比玉树马（0.2228）高,表明德保矮马香槟毛色遗传多态性比玉树马更丰富。玉树马与德保矮马的平均单倍型多样度为0.3160,表明其香槟毛色遗传多态性相对较低。