褪黑激素受体基因的研究进展

褪黑激素通过与药理学特异性的高亲和性G-蛋白耦联受体相结合来发挥其生物学功能。本文介绍了褪黑激素受体的结构、功能与调控、褪黑激素受体基因的克隆及基因结构、褪黑激素受体基因的发育性表达与作用、褪黑激素受体基因的定位与多态性分析,并讨论了该基因与繁殖季节性的关系。Abstract:Melatonin exerts its biological effects through pharmacological specific,high affinity G protein-coupled receptors.This review introduced the structure,function,and regulation of melatonin receptor,the cloning and structure,developmental expression,mapping and polymorphism of melatonin receptor gene.The relationship between melatonin receptor gene and reproductive seasonality was also discussed.     

猪Mu阿片受体基因单核苷酸多态性分析

Mu阿片受体（简称MOR）属于G蛋白藕联受体,分布在痛觉传导区,以及与情绪和行为有关的区域,影响动物的神经反应和行为表现。该研究以长白猪、大白猪和杜洛克猪为试验材料, 用8对引物对Mu阿片受体基因的5′ UTR区域、整个编码区和3′ UTR区域用PCR-SSCP方法进行了扫描,发现5处突变基因座（GenBank登录号：AF521309）。统计结果发现基因型频率分布与品种有关,大白猪突变基因型频率显著高于长白和杜洛克,本研究推测分布上的差异可能是由于长期的选择压力造成的。Abstract:Mu opioid receptor (MOR) is a member of G protein-coupled receptor family,distributed in the pain transduction region in the brain and related to emotion and behaviour.This study was designed to investigate the Single Nucleotide Polymorphism (SNP) of Mu opioid receptor gene in various breeds,including duroc,landrace and Yorkshire.5′ UTR ( untranslate region),coding region and 3′ UTR of Mu opioid receptor gene were amplified by eight pairs of primers,and the Single Nucleotide Polymorphism (SNP) were detected by SSCP.Five polymorphisms were found (Genebank Accession number:AF521309).The results of χ2 test showed that the frequencies of genotypes in different breeds were significantly different (P＜0.01).The frequencies of mutation genotypes in Yorkshire were significantly higher than Duroc and Landrace.According to the above results,we can speculate the difference of the frequencies of genotypes may be the results of long term choice pressure.     

鸡瘦蛋白受体(OBR)基因外显子9单核苷酸多态性分析

瘦蛋白受体属于Ⅰ类细胞因子超家族受体,其在瘦蛋白的信号转导中起着关键的作用。本研究根据瘦蛋白受体基因外显子9的序列设计引物,用PCR-SSCP的方法对高脂系（fatness line,FL）、低脂系(leanness line,LL)、北京油鸡、白耳鸡、石歧杂、矮小黄鸡、小型黄鸡、惠阳胡须鸡、隐性白羽鸡和海兰蛋鸡等品种（系）进行了单核苷酸多态性分析,并检测到了多态性。对两种纯合子片段克隆和测序,结果表明在编码区的1167位碱基发生了突变,由C突变为A,但是编码的氨基酸并没有发生改变。经独立性检验,基因型频率和基因频率分布与品种有关,北京油鸡的AA基因型频率显著高于其他品种;高脂系中A基因频率显著高于低脂系。Abstract:Leptin receptor is a type I cytokine super family member and plays an important role in leptin functioning signal transduction.This study was designed to investigate the single nucleotide polymorphism (SNP) of OBR gene in various breeds,including Fatness Line (FL),Leanness Line (LL),Beijing Youji,Baierji,Shiqiza,Dwarf Yellow Chickens,Mini Yellow Chickens,Huiyang Huxuji,Recessive White Chickens and Hyline Layer.The primers for exon 9 in OBR gene were designed from the database of chicken genomic sequence and the SNPs were detected by PCR-SSCP method.One SNP (C/A at 1167 in cds) was found among individuals within all breeds.However,the amino acid was not changed because it was a silence mutantion.The result of population genetics analyses showed that the frequency of AA genotype in Beijing Youji was significantly higher than that in other lines.Also,the frequency of A allele in FL was significantly higher than that in LL.     

催乳素受体基因与羊驼繁殖性能关系的初探

通过氯仿/异戊醇法制备羊驼血液基因组DNA,采用PCR方法首次扩增出羊驼催乳素受体基因(prolactin receptor gene,PRLR)exon8-exon9序列(GenBank登录号为DQ198164),该片段长度为622bp。通过NCBI blast(http://www.ncbi.nlm.nih.gov/BLAST/)比较,结果表明:该序列包括exon8的82bp、intron8全序列472bp和exon9的68bp。同源性比较发现,羊驼PRLR基因exon8和exon9核苷酸序列与其它哺乳动物的相应区域的同源性特高,均≥92%;同时还发现羊驼exon8引物后第19个碱基为G,而其它哺乳动物(猪除外)均为A,猪则是在羊驼exon8引物后的第34个碱基处由G变为A,通过推导氨基酸序列分析发现,这种单碱基的突变使得羊驼与其它哺乳动物相比,该处的氨基酸由亮氨酸取代了异亮氨酸;在羊驼exon9引物前第22个碱基处也发生了A-G碱基替换现象,但这个碱基的突变发生在密码子的第3个碱基上,编码的氨基酸均为脯氨酸。在这些动物中只有羊驼为单胎动物,羊驼exon8核苷酸序列中A-G的碱基替换并引起编码氨基酸序列发生改变是否与羊驼繁殖性能有关还有待进一步研究。     

猪主要经济性状候选基因的研究进展

随着人类基因组计划的完成和动物基因组计划的进行,许多控制动物经济性状的主基因逐渐被发现,并显示出巨大的应用前景。本文概述了影响猪繁殖、肉质、生长发育等主要经济性状的主基因的基因大小、基因定位和基因效应等,对主基因的研究在动物遗传育种科学发展中的意义也作了一些阐述。Abstract:With the accomplishment of human genome project and the development of animal genome project,many major genes affecting animal economic traits were gradually detected,and they show great application prospect.Major genes affecting reproductive traits,meat quality traits,growing and developing traits of pig are summarized from their size,location and effect.In addition,the meaning of major gene in the improvement of animal breeding and genetics is also discussed.     

鸡催乳素基因序列多态及生物信息学分析

选择繁殖性能具有明显差异的4个鸡品种（莱航鸡、阳山鸡、丝羽乌骨鸡和隐性白洛克鸡）构建品种DNA池,采用测序的方法快速筛查鸡催乳素基因（chicken prolactin,cPRL）5′侧翼调控区、外显子区和部分内含子区约4500 bp范围内可能与产蛋性能相关的序列多态,共检测到13个SNPs和两个短片段（24 bp和15 bp）插入/缺失多态,其中在5′侧翼序列筛查到9个SNPs及两个短片段插入/缺失多态,在第2外显子筛查到1个SNP,在第5外显子筛查到两个SNPs,在第2内含子筛查到1个SNP;进一步利用生物信息学分析cPRL基因的5′侧翼调控序列,发现24 bp短片段的插入使莱航鸡比阳山鸡多出了1个Evi-1可能的结合位点（93分）,C-2402T的变异则使阳山鸡比莱航鸡多出了1个C/EBPbeta可能的结合位点（94分）,这两个结合位点是否影响cPRL基因的表达,影响鸡的就巢性和产蛋性能,还需要进一步研究。Abstract：Four chicken breeds (White Leghorn, Yangshan, Taihe Silkies, White Recessive Rocks) with different reproduction were applied to screen potential SNPs related to laying performance in the 5′flanking region, exon region and partial intron region of chicken prolactin (cPRL) gene. Totally almost 4500 bp were screened rapidly based on DNA pooling and sequencing, and thirteen single nucleotide polymorphisms (SNPs) and two indels (24 bp and 15 bp) were found, including nine SNPs and two indels in the 5′flanking region, one SNP in Exon 2, two SNPs in Exon 5 and one SNP in Intron 2 respectively. Furthermore, 5′flanking region of cPRL gene was analyzed by the website of http://motif.genome.ad.jp/. A possible Evi-1 binding site (score 93) was found in White Leghorn cPRL gene because of the 24 bp insertion, another possible C/EBPbeta binding site (score 94) was found in Yangshan cPRL gene because of the variation of C-2402T. Further studies need to be carried out to verify their effects on the expression of cPRL gene, the broodiness and laying performance of chickens.     

中国人群5-羟色胺2A受体基因中T102C多态性与精神分裂症的联系Analysis of Association Between T102C Polymorphism in theSerotonin 2A Receptor Gene and Schizophrenia in Chinese Population

在研究5-羟色胺2A受体基因多态性与精神分裂症的关联分析中,调查了20 2例精神分裂症患者及202例正常对照。各相匹配组间比较未发现基因型和等位基因频率的显著性差异。结果提示,在中国人群中5-羟色胺2A受体的静态T102C突变与精神分裂症之间不存在关联。Abstract:Association study between in the T102C polymorphism serotonin 2A receptor gene and schizoprenia was performed in 202 schizophrenics and 202 normal controls.No significant differences of genotype and allele frequencies between the matched groups were found.Our results,which are different from some other studies,excluded the association between a silent T102C change and schizophrenia in the Chinese population.     

植物防御系统中抗病相关基因的研究进展

本文论述了植物防御系统中抗病相关基因（resistance gene,R基因）的研究进展。列表总结了迄今已克隆的R基因,并将其归为四种不同的类型。综述了不同基因表达产物-R蛋白在细胞中的定位及其相应的功能。此外,还对R基因编码区的多态性、R基因在染色体上排列方式以及R基因的进化与起源等问题进行了讨论。Abstract:This review comments on recent advances in research of disease resistance genes(R Genes) in defence system of plants.The R genes cloned up to date are summarized and classified roughly into four classes listed in the Table 1.The location and the founction of the R proteins,i.e.,the expressed products of different R genes in the cells are reviewed.In addition,the polymophism of coding region of R genes,the different fashions of R gene arrangement on the chromosomes,and the evolution and origin of R genes are discussed.     

肌细胞生成素基因的研究进展

本文综述了肌细胞生成素（myogenin,MYOG）基因在位置、结构、多态性及检测方法上的研究现状,并初步探讨了MYOG基因与经济性状的关系。Abstract: In this paper we briefly introduced the location, structure, polymorphisms of myogenin gene, and discussed the relationships of myogenin gene with economic traits.     

MyoG基因对金华猪繁殖性状的影响

用PCR-RFLP方法对金华猪I系（109头）、II系（15头）、III系（25头）的MyoG基因的第二内含子内（PCR1- MspⅠ-RFLP）和3'-端（PCR2- MspⅠ-RFLP）位点进行了多态性分析。结果表明：PCR1- MspⅠ-RFLP位点有3种基因型（AA、AB、BB）,其基因型频率分别为0.1544,0.3826,0.4631;PCR2- MspⅠ-RFLP位点只有2种基因型（MM、MN）,其基因型频率分别为0.9953和0.0047。采用SPSS程序分析MyoG基因对金华猪繁殖性状的影响。结果表明：MyoG基因对金华母猪初胎的总产仔数、二胎的产活仔数影响显著（P<0.05）,而对其他胎次组合的总产仔数、产活仔数以及初生窝重没有显著影响（P<0.05）。     

Polymorphisms on SSC15q21-q26 Containing QTL for reproduction in Swine and its association with litter size

Several quantitative trait loci (QTL) for important reproductive traits (ovulation rate) have been identified on the porcine chromosome 15 (SSC15). To assist in the selection of positional candidate swine genes for these QTL on SSC15, twenty-one genes had already been assigned to SSC15 in a previous study in our lab, by using the radiation hybrid panel IMpRH. Further polymorphism studies were carried out on these positional candidate genes with four breeds of pigs (Duroc, Erhualian, Dahuabai and Landrace) harboring significant differences in reproduction traits. A total of nineteen polymorphisms were found in 21 genes. Among these, seven in six genes were used for association studies, whereby NRP2 polymorphism was found to be significantly (p < 0.05) associated with litter-size traits. NRP2 might be a candidate gene for pig-litter size based on its chromosome location (Du et al., 2006), significant association with litter-size traits and relationships with Sema and the VEGF super families.     

Development of a novel ligand that activates JAK2/STAT5 signaling through a heterodimer of prolactin receptor and growth hormone receptor

The objective of this study was to determine if a functional heterodimer of prolactin receptor (PRLR) and growth hormone receptor (GHR) can be formed in humans. A novel ligand was designed that is composed of a GHR antagonist (B2036) and a PRLR antagonist (G129R) fused in tandem (B2036-G129R). Because both B2036 and G129R are binding site 2 inactive antagonists, the B2036-G129R fusion protein, in theory contains only two functional binding site 1s: one for GHR and one for PRLR. We examined the behavior of this chimeric ligand in cell lines known to express GHR, PRLR, or both receptors. The data presented show that B2036-G129R is inactive in IM-9 cells that express only GHR or Nb2 cells that express PRLR. In T-47D cells that coexpress PRLR and GHR, B2036-G129R activates JAK2/STAT5 signaling. These findings provide evidence that B2036-G129R is able to activate signal transduction through a heterodimer of PRLR and GHR in humans.     

Polymorphism of the Serotonin 2A Receptor Gene (5HTR2A) and Personality Traits

The individual variation of temperament features (such as anxiety, neuroticism, harm avoidance) is determined, among other things, by allele polymorphism of genes involved in serotonin metabolism and has earlier been associated with the insertion/deletion polymorphism of the serotonin transporter gene. Polymorphic alleles of the serotonin 2A receptor gene (5HTR2A) were tested for association with personality traits assessed in several tests. The T102C and A1438G polymorphisms were associated with variation in emotionality, activity, and sociability, which are integral characteristics of temperament. With each polymorphism, differences were significant only between heterozygotes and homozygotes. Carriers of T102C genotype A1/A2 displayed a lower level of anxiety-related traits, a higher score on the Hypomania scale, and a lower score on the Social Introversion scale and were assumed to have higher activity and sociability. Carriers of A1438G genotype A/G differed from homozygotes G/G in having a lower level of social introversion and a lower score on the No Close Friends scale, which testified to higher sociability of heterozygotes. Thus, the polymorphic alleles of 5HTR2A proved to be associated with personality traits in mentally healthy people.     

Functional consequences of prolactin signalling in endothelial cells: a potential link with angiogenesis in pathophysiology?

Prolactin is best known as the polypeptide anterior pituitary hormone, which regulates the development of the mammary gland. However, it became clear over the last decade that prolactin contributes to a broad range of pathologies, including breast cancer. Prolactin is also involved in angiogenesis via the release of pro-angiogenic factors by leukocytes and epithelial cells. However, whether prolactin also influences endothelial cells, and whether there are functional consequences of prolactin-induced signalling in the perspective of angiogenesis, remains so far elusive. In the present study, we show that prolactin induces phosphorylation of ERK1/2 and STAT5 and induces tube formation of endothelial cells on Matrigel. These effects are blocked by a specific prolactin receptor antagonist, del1-9-G129R-hPRL. Moreover, in an in vivo model of the chorioallantoic membrane of the chicken embryo, prolactin enhances vessel density and the tortuosity of the vasculature and pillar formation, which are hallmarks of intussusceptive angiogenesis. Interestingly, while prolactin has only little effect on endothelial cell proliferation, it markedly stimulates endothelial cell migration. Again, migration was reverted by del1-9-G129R-hPRL, indicating a direct effect of prolactin on its receptor. Immunohistochemistry and spectral imaging revealed that the prolactin receptor is present in the microvasculature of human breast carcinoma tissue. Altogether, these results suggest that prolactin may directly stimulate angiogenesis, which could be one of the mechanisms by which prolactin contributes to breast cancer progression, thereby providing a potential tool for intervention.