Genetic polymorphism of blood and milk enzymes and proteins and their association with economically valuable traits of black-white cattle of the western region of the Ukraine

The structure of genetic polymorphism of the blood and milk proteins and blood enzymes was studied. It was shown that in the Western region of Ukraine Black-and-White breed cattle had seven phenotypes of transferrin, one phenotype of hemoglobin, three phenotypes of amylase, five phenotypes of alkaline phosphatase, ceruloplasmine, beta-lactoglobuline, and alpha si-caseine, and three phenotypes of beta-caseine. The effects of homo- and heterozygous levels on the heifer growth, milk production and fertility of cows were found. Complex analysis of polymorphism of blood and milk ferments and proteins gives possibility to find a closer association of genetic tests with growth, milk production, and fertility of animals of Black-and-White breed.     

ADAPTIVE DYNAMICS IN ALLELE SPACE: EVOLUTION OF GENETIC POLYMORPHISM BY SMALL MUTATIONS IN A HETEROGENEOUS ENVIRONMENT

We demonstrate how a genetic polymorphism of distinctly different alleles can develop during long-term frequency-dependent evolution in an initially monomorphic diploid population, if mutations have only small phenotypic effect. As a specific example, we use a version of Levene's (1953) soft selection model, where stabilizing selection acts on a continuous trait within each of two habitats. If the optimal phenotypes within the habitats are sufficiently different, then two distinctly different alleles evolve gradually from a single ancestral allele. In a wide range of parameter values, the two locally optimal phenotypes will be realized by one of the homozygotes and the heterozygote, rather than by the two homozygotes. Unlike in the haploid analogue of the model, there can be multiple polymorphic evolutionary attractors with different probabilities of convergence. Our results differ from the population genetic models of short-term evolution in two aspects: (1) a polymorphism that is population genetically stable may be invaded by a new mutant allele and, as a consequence, the population may fall back to monomorphism, (2) long-term evolution by allele substitutions may lead from a population where polymorphism is not possible into one where polymorphism is possible.     

Photopigments and colour vision in New World monkeys from the family Atelidae

Most New World monkeys have an X-chromosome opsin gene polymorphism that produces a variety of different colour vision phenotypes. Howler monkeys (Alouatta), one of the four genera in the family Atelidae lack this polymorphism. Instead, they have acquired uniform trichromatic colour vision similar to that of Old World monkeys, apes and people through opsin gene duplication. In order to determine whether closely related monkeys share this arrangement, spectral sensitivity functions that allow inferences about cone pigments were measured for 56 monkeys from two other Atelid genera, spider monkeys (Ateles) and woolly monkeys (Lagothrix). Unlike howler monkeys, both spider and woolly monkeys are polymorphic for their middle- and long-wavelength cone photopigments. However, they also differ from other polymorphic New World monkeys in having two rather than three possible types of middle- and long-wavelength cone pigments. This feature directly influences the relative numbers of dichromatic and trichromatic monkeys.     

Hemoglobin polymorphism in fishes. I. Complex phenotypic patterns in the toadfish,Opsanus tau

Hemolysates of erythrocytes from toadfish (Opsanus tau) are complex mixtures containing 13–18 individual hemoglobin components. Polyacrylamide gel electrophoresis shows that hemoglobin is rather evenly distributed among the bands. Seldom does a single component amount to more than 20% of the total hemolysate. An unusually high degree of polymorphism exists in populations of the toadfish. Six major phenotypes occur commonly at Beaufort, North Carolina, and four of the six phenotypes were present in a sample of 11 toadfish from Gloucester Point, Virginia. Six minor phenotypes occur but have not been studied extensively. The genetic explanation of this hemoglobin polymorphism remains obscure.     

Biochemical analysis of murine leukemia viruses isolated from radiation-induced leukemias of strain BALB/c.

Murine leukemia viruses isolated from radiation-induced BALB/c leukemias were characterized with respect to viral proteins and RNA. Analysis by sodium dodecyl sulfate-polyacrylamide gel electrophoresis of the viral structural proteins revealed that for p12, p15, p30, and gp70, three of four electrophoretic variants of each could be detected. There was no correlation found between any of these mobilities and N- or B-tropism of the viruses. Proteins of all xenotropic viral isolates were identical in their gel electrophoretic profiles. The similar phenotypes of multiple viral clones from individual leukemias and of isolates grown in different cells suggest that the polymorphism of ecotropic viruses was generated in vivo rather than during in vitro virus growth. By two-dimensional fingerprinting of RNase T1-resistant oligonucleotides from 70S viral DNA, the previously reported association of N- and B-tropism with two distinct oligonucleotides was confirmed. The presence of two other oligonucleotides was correlated with positive and negative phenotypes of the virus-coded GIX cell surface antigen. The RNAs of two B-tropic isolates with distinctive p15 and p12 phenotypes differed from the RNA of a prototype N-tropic virus by the absence of three oligonucleotides mapping in the 5' portion (gag region) of the prototype RNA. In addition, one small-plaque B-tropic virus displayed extensive changes in the RNA sequences associated with the env region of the prototype.     

Polymorphic restriction sites in the horse (β-globin gene cluster

Horse DNA samples digested with PstI and probed with the rabbit beta 1 globin gene show three phenotypes determined by one fragment of variable length (about 5.1 or 3.3 kb). Family data demonstrate that these fragments segregate as Mendelian alleles. The frequencies of the two alleles are 0.66 for the 3.3-kb fragment and 0.34 for the 5.1-kb one. Another polymorphism has been detected with BamHI. Again three phenotypes determined by two alleles (fragments of 7.5 and 3.8 kb) have been observed. Allelic frequencies of the 7.5- and 3.8-kb fragments are 0.24 and 0.76 respectively. The two polymorphic sites are non-randomly associated.     

The inheritance of nymphal colour/pattern polymorphism in the leafhoppers Eupteryx urticae (F.) and E. cyclops Matsumura (Hemiptera: Auchenorrhyncha)

Nymphal colour/pattern polymorphisms are described in two cicadellid leafhopper species in the genus Eupteryx (Curt.). Eupteryx urticae (F.) exhibits three phenotypes (black, orange and white), while E. cyclops (Mats.) is polymorphic for pattern (ranging from completely pale to entirely black). There is no apparent parallel variation in the adults reared from these different phenotypes. The polymorphic variation reaches its full development in the last two nymphal instars, although it is possible to score earlier stages in certain cases. Crossing experiments revealed that part of the variation in E. urticae is controlled by a sex-linked gene, with orange dominant to black. Experiments with the white phenotype were inconclusive. In E. cyclops , the polymorphism is controlled by three genes, two autosomal and one sex-linked, each exhibiting complete dominance with epistatic interactions between them. A limited number of crosses between E. cyclops stock from Britain and Finland suggested that the loci controlling the polymorphism in the two countries are probably homologous. The theoretical implications of these findings are discussed.     

A genetic polymorphism of the complement component factor B in chickens not linked to the Major Histocompatibility Complex (MHC)

The complement component factor B in chickens exhibits a genetic polymorphism with three common phenotypes, F, F/S, and S. These phenotypes segregate in flocks of chickens homozygous for the MHC (B complex) of the chicken. Furthermore, a genetic analysis has shown that the described factor B polymorphism is not linked to the B complex. It is not known whether the molecular basis for this polymorphism is due to the existence of allelic forms of the structural gene or to some posttranslational modifications, but the finding is discussed in view of the, close linkage of factor B polymorphism with the MHC of all mammalian species investigated so far.     

The Heterozygote Superiority Hypothesis for Polymorphic Color Vision Is Not Supported by Long-Term Fitness Data from Wild Neotropical Monkeys

The leading explanatory model for the widespread occurrence of color vision polymorphism in Neotropical primates is the heterozygote superiority hypothesis, which postulates that trichromatic individuals have a fitness advantage over other phenotypes because redgreen chromatic discrimination is useful for foraging, social signaling, or predator detection. Alternative explanatory models predict that dichromatic and trichromatic phenotypes are each suited to distinct tasks. To conclusively evaluate these models, one must determine whether proposed visual advantages translate into differential fitness of trichromatic and dichromatic individuals. We tested whether color vision phenotype is a significant predictor of female fitness in a population of wild capuchins, using longterm 26 years survival and fertility data. We found no advantage to trichromats over dichromats for three fitness measures fertility rates, offspring survival and maternal survival. This finding suggests that a selective mechanism other than heterozygote advantage is operating to maintain the color vision polymorphism. We propose that attention be directed to field testing the alternative mechanisms of balancing selection proposed to explain opsin polymorphism nichedivergence, frequencydependence and mutual benefit of association. This is the first indepth, longterm study examining the effects of color vision variation on survival and reproductive success in a naturallyoccurring population of primates.     

Human lymphocyte polymorphisms detected by quantitative two-dimensional electrophoresis.

A survey of 186 soluble lymphocyte proteins for genetic polymorphism was carried out utilizing two-dimensional electrophoresis of 14C-labeled phytohemagglutinin (PHA)-stimulated human lymphocyte proteins. Nineteen of these proteins exhibited positional variation consistent with independent genetic polymorphism in a primary sample of 28 individuals. Each of these polymorphisms was characterized by quantitative gene-dosage dependence insofar as the heterozygous phenotype expressed approximately 50% of each allelic gene product as was seen in homozygotes. Patterns observed were also identical in monozygotic twins, replicate samples, and replicate gels. The three expected phenotypes (two homozygotes and a heterozygote) were observed in each of 10 of these polymorphisms while the remaining nine had one of the homozygous classes absent. The presence of the three phenotypes, the demonstration of gene-dosage dependence, and our own and previous pedigree analysis of certain of these polymorphisms supports the genetic basis of these variants. Based on this data, the frequency of polymorphic loci for man is: P = 19/186 = .102, and the average heterozygosity is .024. This estimate is approximately 1/3 to 1/2 the rate of polymorphism previously estimated for man in other studies using one-dimensional electrophoresis of isozyme loci. The newly described polymorphisms and others which should be detectable in larger protein surveys with two-dimensional electrophoresis hold promise as genetic markers of the human genome for use in gene mapping and pedigree analyses.     

Genes as leaders and followers in evolution

A major question for the study of phenotypic evolution is whether intra- and interspecific diversity originates directly from genetic variation, or instead, as plastic responses to environmental influences initially, followed later by genetic change. In species with discrete alternative phenotypes, evolutionary sequences can be inferred from transitions between environmental and genetic phenotype control, and from losses of phenotypic alternatives. From the available evidence, sequences appear equally probable to start with genetic polymorphism as with polyphenism, with a possible dominance of one or the other for specific trait types. We argue in this review that to evaluate the prevalence of each route, an investigation of both genetic and environmental cues for phenotype determination in several related rather than in isolated species is required.     

犬MC1R基因T105A基因座多态性及 与毛色性状相关性的研究The

为了检测犬MC1R基因T105A基因座的多态性,并分析该多态性与犬毛色表型的相关性,抽取111只外科手术学实验用杂种犬血液并提取DNA,记录毛色表型。采用PCR-RFLP技术,对MC1R基因T105A基因座进行基因多态性分析,并对该基因座DNA进行克隆测序;用二元变量相关分析的统计学方法分析基因座多态性与毛色性状之间的相关性。经PCR-RFLP分析结果表明,T105A基因座序列具有多态性,表现为A、B二个等位基因和AA、AB及BB 3种基因型。A、B等位基因频率分别为72.97%和27.03%,基因杂合度（H）为0.39。基因型AA频率为55.86%,BB为9.91%,AB为34.23%。对T105A多态性片段DNA克隆测序后发现,MC1R基因在编码第105位氨基酸的密码子第一个碱基存在由G到A的单碱基突变,该突变导致第105位氨基酸发生由丙氨酸向苏氨酸的改变。统计分析结果表明MC1R基因T105A基因座的多态性与毛色性状不存在显著的相关性,这可能是由于外科手术学实验用犬是杂种犬,其遗传背景不同所致,尚须在纯种犬群体中进一步研究MC1R基因对毛色的影响。 Abstract: In order to detect the polymorphism of T105A in MC1R gene in dogs and to analyze the relationship between the genetic polymorphisms and phenotypes of dog coat color, the blood samples of 111 cross-breed dogs were taken and their genomic DNAs were extracted. The phenotypes of dog coat color were recorded. The T105A locus of MC1R gene in the canine was detected through the technology of PCR-RFLP. Furthermore, the polymorphic fragments at T105A were sequenced. The relationships between the polymorphism of T105A and coat color trait were analyzed by the statistical methods of bivarate correlation analysis. By the method of PCR-RFLP, the T105A polymorphism was found with two alleles A and B and three genotypes AA, AB and BB. The frequencies of two alleles were 72.97% and 27.03%, respectively. The heterozygosity of T105A locus was 0.39. The frequencies of three genotypes were 55.86%, 34.23% and 9.91%, respectively. According to the results of sequencing, one base change from G to A at the position 105 was found at T105A locus and it altered amino acid at the position 105 from alanine to threonine. According to the statistical analysis, no significant association between the polymorphism of MC1R gene and the coat color was found and the result may be due to the differences of genetic background. Further research on MC1R gene should be done in pure breed dogs.     

Biochemical homeostasis of the heterozygote at the lysozyme locus in Japanese Quail

The egg-white lysozyme in the Japanese quail shows electrophoretic polymorphism, there being two allelic forms (F and S). The proportions of the three phenotypes (FF, FS and SS) in three different populations agree with the expected values of the Hardy-Weinberg law in panmictic equilibrium. In the three populations examined the proportions of heterozygotes are close to the maximal expected value. The pH optima of the two homozygotes are different. Maintenance of this polymorphism is explained on the basis of Haldane's concept of the heterozygote advantage by biochemical homeostasis.     

Knee osteoarthritis,lumbar-disc degeneration and developmental dysplasia of the hip - an emerging genetic overlap

Genetics highlights relationships between biological systems, and as the number of defined osteoarthritis susceptibility alleles increases, there is the natural tendency to assess whether the alleles influence other musculoskeletal phenotypes. That has proven to be the case for the GDF5 polymorphism rs143383, a risk factor for knee osteoarthritis and several other common conditions, including lumbar-disc degeneration and developmental dysplasia of the hip. Another interesting example has recently emerged in the repeat polymorphism of the asporin gene, ASPN, which is also associated with these three phenotypes. Such discoveries increase our understanding of shared disease etiology but also emphasize the complexity of common genetic risk.     

Physiological and biochemical properties and population studies in the M lactate dehydrogenase polymorphism of Discoglossus pictus (Amphibia, Anura)

1. M LDH polymorphism has been previously described in Discoglossus pictus. 2. Gene frequency at the LdM locus varied significantly in two isolated areas which differed markedly in water oxygen tension. 3. Sex distribution, relative activity of the LDH isozymes, percentage of total H and M subunits and enzyme kinetics did not differ among the distinct LDH phenotypes. 4. Under decreasing oxygen conditions, mean time to death, LT50 and oxygen consumption were similar in tadpoles of the three LDH phenotypes (fast, intermediate and slow). 5. Our results are compatible with a neutral role for this LDH polymorphism.     

Leukocyte acid phosphatase and metabolic efficiency of phagocytes in the first lactation trimester of cows from a leukaemic herd

In Black-and-White cattle, polymorphism of acid phosphatase (AcP) of blood leukocytes is determined by a pair of autosomal alleles. The aim of the study was to determine the relationship between AcP polymorphism and the metabolic efficiency of phagocytes in the first months after calving of cows naturally infected with the bovine leukaemia virus. The studied population consisted of 91 Black-and-White cows aged 3-6 years, from one herd. Enzootic bovine leukaemia (EBL) was diagnosed with the immuno-enzymatic ELISA method and a PCR molecular test. Additionally, agarose gel electrophoresis and the cytochemical method were used to determine the AcP polymorphism and activity in leukocytes. The metabolic activity of phagocytes was determined by the nitroblue tetrazolium (NBT) reduction test. Significant differences in metabolic efficiency of granulocytes were observed between cows representing different AcP phenotypes. No significant differences in levels of the analysed indices were observed between the EBL-positive and EBL-negative cows and between the three subsequent months after calving.     

Identification of the nucleotide substitution that generates the fourth polymorphic site in human deoxyribonuclease I (DNase I)

In addition to the three polymorphic sites responsible for protein polymorphism, a new polymorphic site has been identified in intron 7 of the human deoxyribonuclease I (DNase I) gene. Three phenotypes were observed on single-strand conformational polymorphism analysis of a 266-bp polymerase chain reaction-amplified fragment containing exon 7 and part of intron 7 of the human DNase I gene. DNA sequencing analysis demonstrated that a C-G substitution occurred at position 1978 in intron 7. This substitution was confirmed by restriction fragment length polymorphism analysis, since a new Msp1 site is created by the substitution. Population and family studies showed that the inheritance of the genotypes for DNase I C1978G polymorphism is controlled by two codominant alleles, tentatively designated DNASE1*1978C and *1978G. The gene frequencies in a Japanese population were significantly different from those in a Caucasian (German) population. The C1978G polymorphism is in linkage disequilibrium with the common DNase I protein phenotypes 1, 1–2, and 2. Received: 20 March 1996 / Revised: 14 May 1996     

Two-dimensional electrophoresis of horse serum proteins: genetic polymorphism of ceruloplasmin and two other serum proteins

Two-dimensional agarose gel (pH 8.6)-horizontal polyacrylamide gel (pH 9.0) electrophoresis of horse serum proteins revealed genetic polymorphism of ceruloplasmin (Cp) and two unidentified serum proteins tentatively designated serum protein 1 (SP1) and serum protein 2 (SP2). Family data were consistent with the hypothesis that the observed Cp and SP1 phenotypes were each controlled by two co-dominant, autosornal alleles. The three common SP2 phenotypes were shown to be controlled by two codominant, autosomal alleles. Population data and limited family data indicated the occurrence of two additional SP2 alleles. Altogether more than 600 horses representing 13 different breeds were typed for Cp, SP1 and SP2, and allele frequency estimates were calculated. SP2 was highly polymorphic in all breeds studied whereas SP1 and Cp showed quite low degrees of polymorphism. SP1 polymorphism was observed in seven breeds while Cp polymorphism was observed only in the Icelandic toelter horse breed.     

Restriction site polymorphisms in the pig beta-globin gene cluster

A restriction fragment length polymorphism was detected in pig DNA digested with Hind III restriction endonuclease and probed with rabbit beta 1-globin gene. Eight different phenotypes were observed and for six of them family data demonstrated that they are determined by three alleles. As this polymorphism is not found with four other restriction endonucleases (Bam HI, Eco RI, Kpn I, and Pst I), single point mutations are proposed to explain the observed differences.     

The red cell ''X''-protein system in goats: evidence for a third allele in a Malaysian breed

Genetic polymorphism of the 'X'-protein in red cells from Malaysian Katjang goats was demonstrated by starch gel electrophoresis at pH 7.3. Two new phenotypes were observed, suggesting that one new allele is involved. A new nomenclature for the 'X'-protein system in goats is proposed.