The genetics of colour-patterns in the grasshopper Chorthippus brunneus

Several alleles were found to determine the colour of the dorsal pronotum in Chorthippus brunneus; there was evidence for at least two loci ( C and V ). Brown ( C^B )was the universal recessive and green ( C^C ) was dominant to all other colours. The white allele ( C^W )was codominant with green( C^G )and purple ( C^P ). Wing-patterns were determined by a separate, probably linked locus ( W ). A dominant plain wing-pattern ( W^P ) was associated with colours other than brown. Striped( W^S )and mottled( W^mo ) were codominant and a plain recessive allele ( W^P ) was also found. All three alleles were associated with the brown phenotype. A purple-sided allele ( S^Pu ) was sometimes obmd with C^pu.. S ^Pu was dominant to brown sides ( S^B ), A series of markings on the dorsal and lateral pronotum ( linea intermedia, fascia postocularis, linea media, carina media and zona lateralis ) were investigated and found to be controlled at separate loci which may be linked to W . These characters were expressed by dominant alleles.
Epistatic effects by modifier loci were shown to have an important effect on the determination of wing phenotype. Allele Wo⁺ , for example, suppressed the stripe-wing pattern, linea media, carina media and zona lateralis .
It was concluded that colour patterns appear to be under genetic control and that dominant alleles were rare in the wild. Changes in shades of colours were shown to be age-dependent and minor.     

Genetic studies on free-ranging macaques of Cay Santiago. II. 6-phosphogluconate dehydrogenase and NADH-methemoglobin reductase (NADH-diaphorase).

For the population of 395 semi-free-ranging rhesus macaques (Macaca mulatta) that inhabited Cayo Santiago in 1976, 6-phosphogluconate dehydrogenase phenotypes of 378 animals were determined. Three phenotypes, controlled by two autosomal codominant alleles,PGD^A andPGD^B, were found by electrophoretic methods. The frequencies of the alleles are 0.898 and 0.102, respectively. The population, composed of five troops and peripheral males, is in Hardy-Weinberg equilibrium at this locus. The allele frequencies at the 6-phosphogluconate dehydrogenase locus in the population in 1976 were compared with frequencies in 1973; a statistically significant difference was found in one troop. The phenotypes of NADH-methemoglobin reductase (NADH-diaphorase) were determined electrophoretically for 372 animals. These phenotypes are probably the products of two autosomal codominant alleles,Dia¹ andDia², with frequencies of 0.786 and 0.214, respectively. The population is in equilibrium at this locus also. Tests of homogeneity at the dehydrogenase and reductase loci indicate that the allele frequencies are significantly different among the five troops in the population. Observed and expected phenotypic ratios in progeny were compared at the dehydrogenase and the reductase loci. The only significant deviation from expectation occurs among offspring of mothers heterozygous at the reductase locus. The observed distributions of alleles at the 6-phosphogluconate dehydrogenase locus and the NADH-methemoglobin reductase locus are probably the results of stochastic processes.     

Explicit evidence for a missense mutation in exon 4 of SLC45A2 gene causing the pearl coat dilution in horses

Four loci seem responsible for the dilution of the basic coat colours in horse: Dun (D), Silver Dapple (Z), Champagne (CH) and Cream (C). Apart from the current phenotypes ascribed to these loci, pearl has been described as yet another diluted coat colour in this species. To date, this coat colour seems to segregate only in the Iberian breeds Purebred Spanish horse and Lusitano and has also been described in breeds of Iberian origin, such as Quarter Horses and Paint Horse, where it is referred to as the ‘Barlink Factor’. This phenotype segregates in an autosomal recessive manner and resembles some of the coat colours produced by the champagne CH^CH and cream C^Cr alleles, sometimes being difficult to distinguish among them. The interaction between compound heterozygous for the pearl C^prl and cream C^Cr alleles makes SLC45A2 the most plausible candidate gene for the pearl phenotype in horses. Our results provide documented evidence for the missense variation in exon 4 [SLC45A2:c.985G>A; SLC45A2:p.(Ala329Thr)] as the causative mutation for the pearl coat colour. In addition, it is most likely involved as well in the cremello, perlino and smoky cream like phenotypes associated with the compound C^Cr and C^prl heterozygous genotypes (known as cream pearl in the Purebred Spanish horse breed). The characterization of the pearl mutation allows breeders to identify carriers of the C^prl allele and to select this specific coat colour according to personal preferences, market demands or studbook requirements as well as to verify segregation within particular pedigrees.     

Serum esterase genetics in rabbits. II. Genetic analysis of the prealbumin esterase system,including atropinesterase and cocainesterase polymorphism

The zymotypic variation of rabbit prealbumin esterases is controlled by three autosomal loci, each with two alleles: Est-1 ^S and Est-1 ^s, Est-2^F and Est-2 ^f′, Est-3^D and Est-3 ^d. Est-1^S gives rise to the three S zones possessing the cocainesterase activity, Est-2 ^F to the three F zones with atropinesterase activity. Presence of the latter allele is never manifested without the Est-1 ^S allele. Est-3 ^D codes for the D zone. This D esterase reacts with the currently used substrate α-naphthylacetate only in the presence of the F zones. Est-1 and Est-2 loci are closely linked (<0.5% recombination); Est-3 shows no coupling with Est-1 and Est-2. The Est-1 ^S and Est-3 ^D alleles have a complete dominant expression, whereas the Est-2 alleles are codominant. Gene frequencies of the Est-1 and Est-2 loci vary between the examined breeds. A Hardy-Weinberg equilibrium is found in two populations (Cpb:ALU and Cpb:VW). A significant surplus of heterozygotes is demonstrated in a third population (Cpb:CH).     

Genotypic effects on the frequency of homoeologous and homologous recombination in <Emphasis Type="Italic">Brassica napus</Emphasis> × <Emphasis Type="Italic">B. carinata</Emphasis> hybrids

We investigated the influence of genotype on homoeologous and homologous recombination frequency in eight different Brassica napus (AACⁿCⁿ) × B. carinata (BBC^cC^c) interspecific hybrids (genome composition CⁿC^cAB). Meiotic recombination events were assessed through microsatellite marker analysis of 67 unreduced microspore-derived progeny. Thirty-four microsatellite markers amplified 83 A-, B-, Cⁿ- and C^c-genome alleles at 64 loci, of which a subset of seven markers amplifying 26 alleles could be used to determine allele copy number. Hybrid genotypes varied significantly in loss of A- and B-genome alleles (P < 0.0001), which ranged from 6 to 22% between hybrid progeny sets. Allele copy number analysis revealed 19 A–C, 3 A–B and 10 B–C duplication/deletion events attributed to homoeologous recombination. Additionally, 55 deletions and 19 duplications without an accompanying dosage change in homoeologous alleles were detected. Hybrid progeny sets varied in observed frequencies of loss, gain and exchange of alleles across the A and B genomes as well as in the diploid C genome. Self-fertility in hybrid progeny decreased as the loss of B-genome loci (but not A-genome loci) increased. Hybrid genotypes with high levels of homologous and homoeologous exchange may be exploited for genetic introgressions between B. carinata and B. napus (canola), and those with low levels may be used to develop stable synthetic Brassica allopolyploids.     

Inheritance of coat colour in the Anatolian Shepherd dog

The predominant colour of the Anatolian Shepherd dog varies from a dark fawn to light red, with a variable black muzzle and face (mask). Evidence is presented that the colour is due to the dominant yellow allele (A ^y) of the agouti locus. Two other frequent colours are white spotting, due to the piebald allele (s ^p), and the chinchilla allele (ch). Two rarer colours are the agouti wolf-grey wild type (A ⁺) and a light fawn with a blue facial mask, due to the dilution allele (d).     

Five genetic loci involved in the synthesis of acidic exopolysaccharides are closely linked in the genome of Rhizobium sp strain NGR234

Summary R-prime plasmids were constructed from a derivative of Rhizobium strain NGR234 (ANU280) and were shown to contain overlapping genomic DNA segments involved in biosynthesis of exopolysaccharides (EPS). The R-primes originally constructed carried the mutant allele from Tn5-induced EPS-deficient (Exo^–) mutant ANU2811. This plasmid-located mutant allele was dominant to the corresponding wild-type allele as merodiploid strains were Exo^–. Exo⁺ revertants occurred at a low rate (1×10^-7) and these were shown to result from double reciprocal recombination events, which led to the isolation of R-prime plasmids carrying functional wild-type exo alleles. R-prime plasmids that carry overlapping segments of DNA from parental strain ANU280 complemented 28 of the 30 group 2 Exo^– mutants of strain ANU280. Complementation of these Exo^– mutants also restored their symbiotic abilities of effective nodulation. Subsequent in vivo recombination between the wild-type alleles located on the R-prime and the corresponding mutated allele on the genome, was used to generate a new family of R-primes, which carried mutations in the exo genes. The 30 group 2 Exo^– mutants were classified into 7 distinct genetic groups based upon complementation and physical mapping data. Five of the seven exo loci were gentically linked and located on a 15-kb region of DNA. Mutations at two loci were dominant only when the mutations were R-prime plasmid-located while a mutation at a second locus was cis-dominant to two other exo loci. At least five genes involved in the synthesis of acidic exopolysaccharide synthesis have been identified.     

Supergenes in polymorphic land snails. I. Partula taeniata.

The general colour of the shell in Partula taeniata is controlled by at least two loci. One of these (C) has a series of six alleles which determine the yellow (Y) and neutral brown (N) series of colours. Alleles for darker colours are dominant to those for lighter colours, but dominance is not always complete. The pink (P) colours are determined by a second locus (P) which modified the expression of the lighter alleles of the C locus. Orangeshell colour segregates with yellow but its allelic relationship is unknown. Colour of the lip is controlled by a locus (L) with pink lip dominant to white lip. The colour of the spire is determined by a locus (S) with dark (N4) spire dominant to light spire. An intermediate spire colour shows the same pattern of inheritance and may represent the effect of another allele. Banding of the shell is dominant to absence of bands, with two loci (B1 and B2) determining the type of banding. An allele at B1 produces the frenata pattern; an allele at B2 produces zonata; together they produce lyra. All the loci for which linkage data are available are linked so strongly that the whole array may be considered a supergene. Self-fertilisation takes place primarily during early reproductive life. About 20 per cent of the young of the first mating of an individual are produced by selfing, but over the whole reproductive span the frequency is only about 2-5 per cent. There is inconclusive evidence for heterozygote advantage of banded individuals.     

Genetic basis of tristyly in tetraploid Oxalis alpina (Oxalidaceae)

The inheritance of style‐morphs was investigated in tetraploid populations of tristylous Oxalis alpina (Oxalidaceae) to determine if alleles controlling style‐morphs are expressed at duplicated loci. In tetraploid populations, a dominant S allele leads to expression of the short‐styled phenotype at the short/non‐short locus and is epistatic to the M allele at the mid/long locus. The M allele results in expression of the mid‐styled phenotype but only if the S allele is absent. Long‐styled morphs are homozygous recessive at the short and mid loci. Test crosses of many tetraploid short‐styled individuals resulted in segregations of short‐, mid‐ and long‐styled individuals which, because of linkage between the short and mid loci, can only occur with polyploidy and expression of alleles at duplicated loci. Segregation patterns from three crosses suggest the possibility of disomic inheritance via preferential pairing of chromosomes in tetraploid populations of O. alpina. Segregation patterns in the progeny of mid‐styled individuals indicated that only a few individuals had more than one copy of the M allele, despite the potential for accumulation of M alleles via self‐fertilization of partially self‐compatible mid‐styled morphs in some populations. © 2015 The Linnean Society of London, Botanical Journal of the Linnean Society, 2015, 179 , 308–318.     

Male hybrid sterility of mice with the genomic region of the KitW mutation and the KitS allele from Mus spretus

Two congenic strains, C57BL-Kit^W and C57BL-Kit^S, were generated. The Kit^W allele originated from strain WB-Kit^W and the Kit^S allele from Mus spretus. The Kit^W/Kit^S males showed hybrid sterility with small testes, but the females were fertile. The development of the seminiferous tubules of Kit^W/Kit^S males stopped before the spermatocyte stage and they were almost free of sperm. The Kit gene is located at position 42 on chromosome 5. We investigated in the C57BL-Kit^S congenic strain which part of the chromosomal region adjacent to the Kit^S allele is introduced from SPR into a C57BL background. The region between positions 42 and 44 was derived from SPR. Eleven amino acid substitutions of the Kit^S cDNA were detected by comparison with the sequence data of the +^Kit cDNA from C57BL; seven were in the extracellular domain, one in the transmembrane domain, two in the kinase I domain, and one in the carboxy-terminal tail. The Kit mRNA derived from both Kit^W and Kit^S alleles was expressed in the sterile testes of Kit^W/Kit^S males.     

Differential Effects of the KitW Mutation with Other Kit Allelic Combinations on Male Sterility Among Inter- or Intrasubspecific Hybrids in Mice

The combination of the Kit ^W mutation and Kit ^S allele from Mus spretus leads to male hybrid sterility. The effects of other combinations between Kit ^W and Kit ^M from Mus m. molossinus or Kit ^N from Mus m. musculus on male reproductive ability were examined in this study. The Kit ^W/Kit ^M and Kit ^W/Kit ^N males were fertile and showed the normal pattern of spermatogenesis in most seminiferous tubules. There were two amino acid substitutions in the protein deduced from the cDNA sequence coded by the Kit ^M allele sequence and three in the Kit ^M allele compared with the protein from the + Kit allele of C57BL mice. These amino acid exchanges had no effect on the fertility of Kit ^W/Kit ^M and Kit ^W/Kit ^N males. Therefore, comparing the sequence data from cDNA coded by Kit ^M and Kit ^N alleles with that for the Kit ^S allele, we concluded that one or more amino acid exchanges in the extracellular domain would be the cause of male hybrid sterility in the Kit ^W/Kit ^S combination; these substitutions are Phe to Ser at position 72, Thr to Ala at 95, Ser to Arg at 101, Leu to Pro at 123, and Ile to Met at 1303     

Mutant allele frequencies in domestic cat populations of Macedonia (Yugoslavia)

Three domestic cat populations from Yugoslavia (Bitola, Ohrid, Struga) were surveyed at six colour loci (orange, non agouti, tabby, dilute, piebald spotting, dominant white) and one coat length locus (long hair, allele l). Statistically significant differences were obtained in frequencies of alleles: O, a, l and W. Human preferences and cultural contacts with other countries especially Turkey are discussed in the paper. Genetic distance analysis did not show that Macedonian populations are more similar to Turkish or Greek ones than populations from Dalmatia, where Turkish influence was absent, although there are similarities between Macedonian and Turkish populations as far as the O allele is concerned. There was a statistically significant correlation between the duration of Turkish rule in the middle and eastern part of the Mediterranean and O and l alleles frequencies.     

Linkage analyses using biochemical variants in mice. II. Levulinate dehydratase and autosomal glucose 6-phosphate dehydrogenase

The level of hepatic -aminolevulinate dehydratase varies among inbred strains of mice and is regulated by codominant alleles at the Lv locus. Twenty-two inbred strains have been classified with respect to this locus. Lv is 5±2 recombination units from brown, b, in linkage group VIII. The locus for autosomal glucose 6-phosphate dehydrogenase (Gpd-1) has also been assigned to linkage group VIII and is 32±5 units from brown. The order of the loci is Lv-b-Gpd-1. Incidental note is made of linkage between the malic dehydrogenase (Mdh-1) and dilute (d) loci, linkage group II, with 10±3 % recombination between the two.Supported by the Roche Institute of Molecular Biology, Nutley, New Jersey, and by Public Health Service Research Grant CA-05873 from the National Cancer Institute.     

Temporal variation in coat colour (genotypes) supports major changes in the Nordic cattle population after Iron Age

Variation in coat colour genotypes of archaeological cattle samples from Finland was studied by sequencing 69 base pairs of the extension locus (melanocortin 1‐receptor, MC1R) targeting both a transition and a deletion defining the three main alleles, such as dominant black (E^D), wild type (E⁺) and recessive red (e). The 69‐bp MC1R sequence was successfully analysed from 23 ancient (1000–1800 AD) samples. All three main alleles and genotype combinations were detected with allele frequencies of 0.26, 0.17 and 0.57 for E^D, E⁺ and e respectively. Recessive red and dominant black alleles were detected in both sexes. According to the best of our knowledge, this is the first ancient DNA study defining all three main MC1R alleles. Observed MC1R alleles are in agreement with calculated phenotype frequencies from historical sources. The division of ancient Finnish cattle population into modern Finnish breeds with settled colours was dated to the 20th century. From the existing genotyped populations in Europe (43 breeds, n = 2360), the closest match to ancient MC1R genotype frequencies was with the Norwegian native multicoloured breeds. In combined published genotype data of ancient (n = 147) and genotypes and phenotypes of modern Nordic cattle (n = 738), MC1R allele frequencies showed temporal changes similar to neutral mitochondrial DNA and Y‐chromosomal haplotypes analysed earlier. All three markers indicate major change in genotypes in Nordic cattle from the Late Iron Age to the Medieval period followed by slower change through the historical periods until the present.     

Estimation of mating system parameters in plant populations using marker loci with null alleles

Summary An Expectation-Maximization (EM)-algorithm procedure is presented that extends Cheliak et al. (1983) method of maximum-likelihood estimation of mating system parameters of mixed mating system models. The extension permits the estimation of the rate of self-fertilization (s) and allele frequencies (Pi) at loci in outcrossing pollen, at marker loci having recessive null alleles. The algorithm makes use of maternal and filial genotypic arrays obtained by the electrophoretic analysis of cohorts of progeny. The genotypes of maternal plants must be known. Explicit equations are given for cases when the genotype of the maternal gamete inherited by a seed can (gymnosperms) or cannot (angiosperms) be determined. The procedure can accommodate any number of codominant alleles, but only one recessive null allele at each locus. An example, using actual data from Pinus banksiana, is presented to illustrate the application of this EM algorithm to the estimation of mating system parameters using marker loci having both codominant and recessive alleles.Issued as AECL-8745     

The genetic constitutions of complementary genes Pp and Pb determine the purple color variation in pericarps with cyanidin-3-O-glucoside depositions in black rice

The purple pericarp color in rice was controlled by two dominant complementary genes, Pb and Pp. Crossing black rice ‘Heugnambyeo’ variants with three varieties of white pericarp rice gave a segregation ratio of 9 purple: 3 brown: 4 white. The Pp genes were segregated by homozygous PpPp alleles for the dark purple pericarps, heterozygous Pppp alleles for the medium and mixed purple pericarps, and homozygous pppp alleles for either brown or white pericarps with a 1 PpPp: 2 Pppp: 1 pppp segregation ratio, indicating that the Pp allele in rice is incompletely dominant to the recessive pp allele. Among the purple seeds, the amount of cyanidin-3-O-glucoside was higher in the dark purple seeds (Pb_PpPp) than in the medium purple seeds (Pb_Pppp). Moreover, no cyanidin-3-glucoside was detected in brown (Pb_pppp) or white pericarp seeds (pbpbpppp). These findings indicated that the level of cyanidin-3-glucoside was determined by the copy number of the Pp allele. Further genotype investigation of the F₃ progeny demonstrated that the dominant Pb allele was present in either purple or brown pericarp. A 2-bp (GT) deletion from the DNA sequences of the dominant and functional Pb was found in the same DNA sequences of the recessive and non-functional pb allele. These findings suggested that the presence of at least a dominant Pb allele was an essential factor for color development in rice pericarps. In conclusion, the Pp allele in rice is incompletely dominant to the recessive pp allele; thus, the number of dominant Pp alleles determines the concentration of cyanidin-3-O-glucoside in black rice.     

A candidate gene approach identifies variants in SLC45A2 that explain dilute phenotypes,pearl and sunshine,in compound heterozygote horses

Variations in the SLC45A2 gene are responsible for the dilution phenotypes cream and pearl in domestic horses. Cream dilution is inherited in an incomplete dominant manner, diluting only red in the heterozygous state but both red and black pigments when two alleles are present. The pearl dilution is recessive and dilutes only the red and black pigment in the homozygous state or when paired with a cream allele. Horses that inherit one copy of pearl (C^prl) and one copy of the dominant cream allele (C^Cr) display a dilution phenotype similar to that of homozygous cream, suggesting that pearl is the result of a different variation in the same gene responsible for cream. We sequenced SLC45A2 in two ‘false double dilute’ horses that appeared phenotypically homozygous cream but tested as possessing only a single C^Cr allele. We also sequenced one known pearl carrier to screen for putative causal variants. The missense variant ECA21:SLC45A2:c.985G>A; p.Ala329Thr (C^prl) was present in one false double dilute and the pearl carrier and was also genotyped in an additional 126 horses for statistical evaluation. The genotype matched the expected phenotype in all horses (P‐value = 6.5 × 10^?41) and is identical to a pearl variant found previously. The second false double dilute horse and one non‐dilute offspring genotyped as heterozygous for a novel missense variant ECA21:SLC45A2:c.568G>A (p.Gly190Arg), the proposed C^sun variant (for the name of the horse). This variant produces a recessive dilution similar to pearl and indicates that multiple alleles of SLC45A2 result in dilution phenotypes in the domestic horse.     

Simple Sequence Repeat and S-Locus Genotyping to Assist the Genetic Characterization and Breeding of Polyploid Prunus Species,P. spinosa and P. domestica subsp. insititia

Polyploid Prunus spinosa (2n?=?4?×) and P. domestica subsp. insititia (2n?=?6?×) represent enormous genetic potential in Central Europe, which can be exploited in breeding programs. In Hungary, 16 cultivar candidates and a recognized cultivar ‘Zempléni’ were selected from wild-growing populations including ten P. spinosa, four P. domestica subsp. insititia and three P. spinosa?×?P. domestica hybrids (2n?=?5?×) were also created. Genotyping in eleven simple sequence repeat (SSR) loci and the multiallelic S-locus was used to characterize genetic variability and achieve a reliable identification of tested accessions. Nine SSR loci proved to be polymorphic and eight of those were highly informative (PIC values ? 0.7). A total of 129 SSR alleles were identified, which means 14.3 average allele number per locus and all accessions but two clones could be discriminated based on unique SSR fingerprints. A total of 23 S-RNase alleles were identified and the complete and partial S-genotype was determined for 10 and 7 accessions, respectively. The DNA sequence was determined for a total of 17 fragments representing 11 S-RNase alleles. ‘Zempléni’ was confirmed to be self-compatible carrying at least one non-functional S-RNase allele (S_J). Our results indicate that the S-allele pools of wild-growing P. spinosa and P. domestica subsp. insititia are overlapping in Hungary. Phylogenetic and principal component analyses confirmed the high level of diversity and genetic differentiation present within the analysed accessions and indicated putative ancestor–descendant relationships. Our data confirm that S-locus genotyping is suitable for diversity studies in polyploid Prunus species but non-related accessions sharing common S-alleles may distort phylogenetic inferences.

     

Effect of mutations affecting coat color on the blood lymphocyte structure in the american mink (<Emphasis Type="Italic">Mustela vison</Emphasis> Schreber, 1777)

American minks with different genotypes containing the Aleutian coat color allele in the homozygous state, including the single recessive Aleutian (a/a); double recessive sapphire (a/a p/p) and lavender (m/m a/a); triple recessive violet (m/m a/a p/p); and dominant-recessive cross sapphire (S/+ a/a p/p), sapphire leopard (S ^K /+ a/a p/p), and shadow sapphire (S ^H /+ a/a p/p) minks, as well as American minks without the Aleutian allele, including the standard (+/+); single recessive silver-blue (p/p) and hedlund-white (h/h); double recessive pearl (k/k p/p), Finnish topaz (t ^S /t ^S b/b); incompletely dominant royal silver (S ^R /+), standard leopard (S ^K /+), and black crystal (C _R /+); and dominant-recessive snowy topaz (C _R /+ t ^S /t ^S b/b) and Kujtezhyspotted (S ^K /+ b/b) minks have been studied. Homozygosity for the a allele has been found to disturb the subcellular structure of leukocyte, namely the formation of abnormally large granules.     

Genetic studies of low-abundance human plasma proteins

Summary Genetic variation in the C1R subcomponent of the first complement component C1 was investigated in U.S. whites by isoelectric focusing and immunoblotting. In addition to the previously described two alleles, the products of a new and rare third allele designated C1R ^*3 were detected. The expression of the new allele is consistent with autosomal codominant inheritance, which is confirmed by family data. The frequencies of the C1R ^*1, C1R ^*2 and C1R ^*3 alleles in 201 randomly selected U.S. whites are: 0.908, 0.090, and 0.002, respectively.