Evidence for a third allele at the β-lactoglobulin (β-Lg) locus of sheep milk and its occurrence in different breeds

Summary. Milk samples from 189 Merinoland Sheep, 145 Black Faced Mutton Sheep, 89 East Friesian Milk Sheep, 36 Rhön, 36 Pleven, 23 Tsigaja, 25 Black Razka and 86 Hungarian Merino x Pleven (F1) sheep were analysed by polyacrylamide gel electrophoresis under acid conditions and isoelectric focusing in ultrathin layer polyacrylamide gels with carrier ampholytes. Six different β-lactoglobulin (β-Lg) phenotypes (A, AB, B, AC, BC and C) were observed by both methods. The occurrence of three codominant alleles (β-Lg^A, β-Lg^B, β-Lg^c) at an autosomal locus (β-Lg) was supported by family and population data on genetic equilibrium. Differences in gene frequencies between the breeds were observed.     

Evidence for a Null allele at the Esterase D (EC 3.1.1.1) locus

Summary Electrophoretic and quantitative assays of esterase D in a Caucasian family demonstrate the inheritance of a null allele, which was observed in the heterozygous state in six individuals.     

A new αS1-casein allele in bovine milk and its occurrence in different breeds

A new asi-casein variant (α_S1-CN F) with a frequency of 0.009 was demonstrated in a genetic resource of German Black and White Cattle by isoelectric focusing in polyacrylamide gels and by polyacrylamide gel electrophoresis under alkaline conditions. α_s1-CN F was not present either in German Holstein Friesians, which originate from crossing Holstein Friesians with German Black and White Cattle, or in milk samples from eight other breeds in Germany.     

Evidence for a new allele at the esterase D (E.C.3.1.1.1) locus

A new rare allele for esterase D (ESD) is described in a family from Düsseldorf. The variant was tentatively named ESD Düs 2.     

A third allele at the phosphoglucose isomerase locus of the Japanese quail

Phosphoglucose isomerase electrophoretic patterns of the Japanese quail were found to be controlled by three alleles at an autosomal locus. In the laboratory quail population, the frequency of the alleles PGI^F, PGI^S1 and PGI^S2 was 0.175, 0.465 and 0.360, respectively.     

Identification of the e allele at the Extension locus (MC1R) in Brazilian Creole sheep and its role in wool color variation

The melanocortin 1 receptor (MC1R) gene has been described as responsible for the black color in some breeds of sheep, but little is known about its function in many colored breeds, particularly those with a wide range of pigmentation phenotypes. The Brazilian Creole is a local breed of sheep from southern Brazil that has a wide variety of wool colors. We examined the MC1R gene (Extension locus) to search for the e allele and determine its role in controlling wool color variation in this breed. One hundred and twenty-five animals, covering the most common Creole sheep phenotypes (black, brown, dark gray, light gray, and white), were sequenced to detect the mutations p.M73K and p.D121N. Besides these two mutations, three other synonymous sites (429, 600, and 725) were found. The dominant allele (E(D): p.73K, and p.121N) was found only in colored animals, whereas the recessive allele (E(+): p.73M, and p.121D) was homozygous only in white individuals. We concluded that MC1R is involved in the control of wool color in Brazilian Creole sheep, particularly the dark phenotypes, although a second gene may be involved in the expression of the white phenotype in this breed.     

Estimating null allele frequencies at a microsatellite locus in the oystercatcher (Haematopus ostralegus)

A significant heterozygote deficiency was found for microsatellite locus 20H7 among adult breeding birds in four populations of the oystercatcher ( Haematopus ostralegus ). Genotype frequencies at seven other loci were according to Hardy–Weinberg equilibria. Deviations between observed and expected genotype numbers decreased substantially when the data were corrected based on the estimated frequency of a putative null allele at locus 20H7 . However, no null homozygotes were observed in the total sample of 378 individuals. The probability that, because of chance effects, null homozygotes were not represented in the sample ( n =230) from the most intensively studied population (Schiermonnikoog) was estimated to be less than 1%. Parent–offspring comparisons from Schiermonnikoog showed that observed genotype numbers in the offspring were in accordance with expected values based on the estimated frequency of the putative null allele in the population. Moreover, a null homozygote was observed among the nestlings. The combined results indicated that a null allele is present at locus 20H7 in oystercatchers and that the inheritance is according to normal Mendelian segregation. If the absence of null homozygotes among adult animals cannot be ascribed to statistical effects, null homozygotes may suffer a selective disadvantage during the juvenile stage.     

Preliminary evidence for a fourth allele at the phosphohexose isomerase (Phi) locus of horse erythrocytes

A fourth allele at the horse erythrocyte phosphohexose isomerase (Phi) locus was proposed to account for phenotypes observed after starch gel electrophoresis and enzymatic staining of red cell lysates from American Saddlebred and Tennessee Walking Horse breeds. The gene was rare, having an estimated frequency of 0.009 in 949 Saddlebreds tested.     

Mapping the four‐horned locus and testing the polled locus in three Chinese sheep breeds

Four‐horned sheep are an ideal animal model for illuminating the genetic basis of horn development. The objective of this study was to locate the genetic region responsible for the four‐horned phenotype and to verify a previously reported polled locus in three Chinese breeds. A genome‐wide association study (GWAS) was performed using 34 two‐horned and 32 four‐horned sheep from three Chinese indigenous breeds: Altay, Mongolian and Sishui Fur sheep. The top two significant single nucleotide polymorphisms (SNPs) associated with the four‐horned phenotype were both located in a region spanning positions 132.6 to 132.7 Mb on sheep chromosome 2. Similar locations for the four‐horned trait were previously identified in Jacob, Navajo‐Churro, Damara and Sishui Fur sheep, suggesting a common genetic component underlying the four‐horned phenotype. The two identified SNPs were both downstream of the metaxin 2 (MTX2) gene and the HOXD gene cluster. For the top SNP—OAR2:g.132619300G>A—the strong associations of the AA and AG genotypes with the four‐horned phenotype and the GG genotype with the two‐horned phenotype indicated the dominant inheritance of the four‐horned trait. No significant SNPs for the polled phenotype were identified in the GWAS analysis, and a PCR analysis for the detection of the 1.8‐kb insertion associated with polled sheep in other breeds failed to verify the association with polledness in the three Chinese breeds. This study supports the hypothesis that two different loci are responsible for horn existence and number. This study contributes to the understanding of the molecular regulation of horn development and enriches the knowledge of qualitative traits in domestic animals.     

Evidence of a third locus in X-linked recessive spastic paraplegia

We have investigated a family with severe X-linked spastic paraplegia and assigned the disease locus to Xq11.2-q23 by linkage and haplotype analysis. This region harbors the gene coding for proteolipid protein, which is mutated in one of the two established forms of X-linked spastic paraplegia, i.e., SPG2. We have performed extensive mutation analysis of this gene. Our failure to detect a mutation in this family suggests a third locus in X-linked recessive spastic paraplegia. Received: 7 March 1997 / Accepted: 14 April 1997     

Intermediate sucrose octa-acetate sensitivity suggests a third allele at mouse bitter taste locus Soa and Soa-Rua identity

Mice have been characterized as either tasters or non-tastersof the bitter compound sucrose octa-acetate(SOA). However, 11of 17 supposedly non-taster inbred strains were found to avoid1 mM SOA. All 17 strains were indifferent to 0.1 mM SOA. Tasterstrains avoided both concentrations. The intermediate phenotypewas dubbed demitaster. A consistent phenotypic dominance orderwas found in crosses among both inbred and outbred strains (taster> non-taster > demitaster). Demitasters were found (withtasters) in an outbred strain showing monogenic segregationfor SOA avoidance. This, plus monogenic segregation in a back-crossof taster to demitaster inbred strains, suggested a third alleleat the Soa locus (Soa^c). Demitaster allelism was supported bythe strong associations found in 15 strains between the threeSOA phenotypes and HindIII restriction fragment patterns forthe closely linked Prp (proline rich protein) loci. SOA demitasterstrains were also intermediate in raffinose undeca-acetate (RUA)avoidance. Furthermore, B6.SW-Soa² congenic mice avoided notonly SOA, but RUA and eight other acetylated sugars. A previouslyproposed separate RUA-sensitivity gene (Rua) thus appeared tobe redundant.     

Sequence characterization of the melanocortin 1 receptor (MC1R) gene in sheep with different coat colours and identification of the putative e allele at the ovine Extension locus

Sequence of the melanocortin 1 receptor (MC1R) gene (the Extension locus) was obtained from a panel of 73 animals belonging to 9 Italian sheep breeds or populations (Appenninica, Bergamasca, Comisana, Cornigliese-like, Delle Langhe, Massese, Merinizzata Italiana, Sarda and Valle del Belice) with different coat colours. Evaluation of the identified polymorphisms on this phenotype was reported with in silico predictions and comparative approaches within and across breeds and across species. Five novel single nucleotide polymorphisms (SNPs), organized in three haplotypes, were detected. Another haplotype, including the two missense mutations already described for the E^D allele, was identified in few Massese sheep. One SNP (c.199C > T) caused a predicted amino acid substitution (p.R67C) in a highly conserved position of the first intracellular loop of the MC1R protein. The same substitution causes recessive pheomelanism in other species. We propose that the p.67C allele represents the recessive e allele at the ovine Extension series that was, so far, not completely recognized in sheep by classical genetic studies. This polymorphism was analysed in a total of 388 sheep of the 9 investigated breeds. The p.67C allele was identified only in the Valle del Belice breed (allele frequency of 21.3% in 176 analysed animals of this breed) in which the presence of epistatic white-determining loci might mask, at least in part, its effects. Confirming the effect of this novel allele on coat colour will lead to new perspectives on the composition of specialized coloured sheep lines.