Frequency Of Gametes Research Articles

Meiotic segregation analysis in cows carrying the t(1;29) Robertsonian translocation

Heterozygous carriers of Robertsonian translocations generally have a normal phenotype but present reproductive failure. In cattle, the t(1;29) Robertsonian translocation is very common and carriers show a 3–5% decrease in fertility. Some data suggest that female carriers have a higher decrease than male carriers but no direct studies of the chromosome content of oocytes from a t(1;29) carrier cow have been performed so far. Four heterozygous carrier cows underwent hormonal stimulations and follicles punctions and about 800 oocytes were matured in vitro. Six hundred metaphase II preparations were obtained and analysed by fluorescent in situ hybridization with bovine chromosome 1 and 29 painting probes. Proportions of different kinds of oocytes were assessed: 74.11% (292/394) were normal and balanced, 4.06% (16/394) unbalanced and 21.83% (86/394) diploid. For all cows, the number of normal oocytes was not significantly different from the number of translocated oocytes but the diploidy and unbalanced rate were significantly different between them. As found in bulls, the meiotic segregation pattern in cows has shown a preponderance of alternate products. However, the frequency of unbalanced gametes determined in females (4.06%) was significantly higher than the frequency observed in males (2.76%). The divergence in the rate of diploid gametes (0.04% vs. 21.83%) is mainly explained by the difference between males and females.

Estimativa de freqüência de recombinação no mapeamento genético de famílias de irmãos completos

O objetivo deste trabalho foi obter as estimativas de freqüência de recombinação, por meio de simulação, para diferentes situações do mapeamento genético de famílias de irmãos completos. Foi simulado um genoma constituído de três grupos de ligação, em que cada um apresentava 11 marcas moleculares multialélicas, codominantes, distribuídas a cada 10 cM. A partir desse genoma, foram simulados dois cenários: um com genitores completamente informativos e outro com genitores formados aleatoriamente. Após a obtenção de todas as estimativas das freqüências de recombinação, concluiu-se que, para locos completamente informativos, pode-se calcular a freqüência de recombinação entre pares de locos, a partir da freqüência gamética de cada genitor ou a partir da freqüência genotípica da progênie. Para locos parcialmente informativos, a obtenção da freqüência de recombinação a partir da freqüência genotípica conjunta é mais apropriada.

Differing mechanisms of meiotic segregation in spermatozoa from three carriers of a pericentric inversion of chromosome 8

To determine the meiotic segregation of a pericentric inversion of chromosome 8 in three carriers. Analysis of sperm nuclei by fluorescence in situ hybridization (FISH). University hospital. Three males with an inv(8). Triple FISH with the 8q and 8p subtelomeres and the specific alphoid of chromosome 9 probes. Meiotic segregation differences between carriers. The frequencies of nonrecombinant gametes were 97%, 60.94%, and 61.03%. The frequencies of recombinant sperm were 1.44%, 37.71%, and 37.70%, whereas the size of the inverted segment represented 31%, 61%, and 80% of the size of the whole chromosome 8. Many factors seem to influence the production of recombinant chromosomes: the affected chromosome and involved region, location of the breakpoints, or size of the inverted segment. Our results show that the rate of recombination varies principally according to the size of the inverted segment.

Variation of gene frequencies in ASIP, MC1R and GREY loci in Thoroughbred horses

The objective of the study has been to verify the hypothesis that the coat colour is regarded in the selection of Polish Thoroughbred horse population. Formally, the colour is not a selection criterion in this breed selected mainly for speed. The material consisted of twelve groups of foals registered in successive volumes of the Stud Book (11,688 foals, in total) and their parents selected to the breeding stud. The frequency of alleles in ASIP, MC1R and GREY loci controlling the coat colours was estimated from the recessive phenotype frequency square in the groups of foals. The inflow of foreign genes was limited and the population great, hence the migration effect was very low. The drift and Wahlund effect hardly influenced the genetic structure in the groups which enabled to analyze the population not divided. The total offspring frequency of recessive a, e and g alleles amounted to 0.1552, 0.4877 and 0.9773, respectively. Accuracy of the assessment of the a and e frequency was confirmed on the basis of test matings. The a, e and g alleles were more frequent in dams than in sires and the a alleles occurred more often in fillies than in colts. The frequency of a and e alleles was higher in the offspring than in the parents. The genotype distribution in the offspring differed from the expected one, assessed from the gamete frequency in sires and in dams. Fewer bay foals were born than anticipated. All the results show that the coat colour is not entirely disregarded in the breeding of Thoroughbred horses. The dominant A and E alleles producing the colour are preferred in the selection, particularly in the sires. This leads to some alterations in the phenotypic structure of the population. On the other hand, the horses are mated randomly, irrespective of the coat colour.

Fine mapping of the Pc locus of Sorghum bicolor, a gene controlling the reaction to a fungal pathogen and its host-selective toxin

Milo disease in sorghum is caused by isolates of the soil-borne fungus Periconia circinata that produce PC-toxin. Susceptibility to milo disease is conditioned by a single, semi-dominant gene, termed Pc. The susceptible allele (Pc) converts to a resistant form (pc) spontaneously at a gametic frequency of 10(-3) to 10(-4). A high-density genetic map was constructed around the Pc locus using DNA markers, allowing the Pc gene to be delimited to a 0.9 cM region on the short arm of sorghum chromosome 9. Physically, the Pc-region was covered by a single BAC clone. Sequence analysis of this BAC revealed twelve gene candidates. Several of the predicted genes in the region are homologous to disease resistance loci, including one NBS-LRR resistance gene analogue that is present in multiple tandem copies. Analysis of pc isolines derived from Pc/Pc sorghum suggests that one or more members of this NBS-LRR gene family are the Pc genes that condition susceptibility.

Population genetic models can be used to study the evolution of the interacting behaviours of parents and their progeny

An example of the evolution of the interacting behaviours of parents and progeny is studied using iterative equations linking the frequencies of the gametes produced by the progeny to the frequencies of the gametes in the parental generation. This population genetics approach shows that a model in which both behaviours are determined by a single locus can lead to a stable equilibrium in which the two behaviours continue to segregate. A model in which the behaviours are determined by genes at two separate loci leads eventually to fixation of the alleles at both loci but this can take many generations of selection. Models of the type described in this paper will be needed to understand the evolution of complex behaviour when genomic or experimental information is available about the genetic determinants of behaviour and the selective values of different genomes.

Direct and indirect detection of 2n eggs in hybrid diploid families derived from haploid tbr × wild species crosses

The analytic-synthetic scheme makes use of haploidization and 2n gametes-mediated sexual polyploidization to incorporate genetic diversity from wild related species in potato breeding. Whereas 2n pollen can be directly screened by microscopy, 2n eggs are routinely screened indirectly by interploid crosses, a time-consuming and inaccurate technique. In five haploid tbr × wild diploid species families with variability for agronomic characters, 2n eggs were screened indirectly to incorporate this germplasm into a useful form and directly by microscopy to establish the feasibility of this approach. For the indirect screening, at least 15 flowers of each of 49 genotypes/family were crossed with a commercial cultivar. Eighty-five fruits were produced; only 15 of them had seeds (1–25). Chromosome numbers were determined in a random sample of five seeds/fruit, resulting diploid in two genotypic combinations and tetraploid in another two. For the direct screening, eight combinations of staining and destaining (times and concentrations) were evaluated in detached ovules to adjust a clarification technique. The best combination was one day of staining and one day of destaining in 0.5 % acetic acid. In an indirectly detected diplogynoid, the average diameters of the central cell nuclei (CCN) and nucleoli (CCNu) were, respectively, 9.3 μ and 3.4 μ. Gametophytes with diametres 1.26 times the average were considered 2n. By crosses, eleven seeds were obtained in one fruit of this clone whereas the 2n egg frequency determined by microscopy was 7%. The direct technique is easy to carry out once the eye is trained and its results better reflect actual 2n gamete frequencies.

Meiotic segregation in spermatozoa of a 45,XY,-14,der(18)t(14;18)(q11;p11.3) translocation carrier: A Case Report

A 35-year-old male was found to have a 45,XY,-14,der(18)t(14;18)(q11;p11.3) karyotype during the investigations for a couple with infertility for 8 years. Two sperm samples were obtained and analysed in triple fluorescence in situ hybridization (FISH) with the D18Z1 and LSI IGH/BCL2 probes. The frequency of gametes exhibiting a normal or balanced chromosomal equipment was 87.26 and 90.97% in samples 1 and 2, respectively. No statistically significant difference was found between the results of meiotic segregation of both samples. These proportions are close to those observed among Robertsonian translocation carriers. They can probably be explained by the formation of trivalent in cis configuration during meiosis I between the derivative chromosome and the normal chromosomes 14 and 18, as in Robertsonian translocation carriers. These results suggest that the configuration adopted at pachytene strongly determines the segregation mode that will be preferentially followed during anaphase I.

INDUCTION OF 2N GAMETES FOR OVERCOMING F1-STERILITY IN LILY AND TULIP

For overcoming F1-sterility in interspecific hybrids, mitotic and meiotic polyploidisation is applied in lily and can result in fertile allopolyploids. The mechanism of viable pollen production of mitotic and meiotic polyploidisation is quite different. Mitotic polyploids are obtained by artificial chromosome doubling and results in normal pairing of homologous chromosome set, which enables the formation of 2x gametes during the meiosis. Meiotic polyploidisation, on the other hand, leads in rare cases of restitutional chromosome division, to the formation of unreduced gametes (2n gametes). In contrast to mitotic doubling, homoeologous recombination can occur in these gametes. Genomic in situ hybridization (GISH) was used to discriminate parental chromosomes in the F1 hybrids and backcross progenies to detect homoeologous recombination. Mitotic polyploidisation showed no homoeologous recombinations between the parental genomes whereas in meiotic polyploids it was detected in a high frequency. The use of 2n gametes is therefore the most promising approach for the introgression of desirable characters in using interspecific hybrids in breeding. In both cases, the frequency of viable gametes appeared to be low and limited to a few F1-hybrids. A new and promising method is developed in which 2n-gametes can be induced by the application of laughing gas (N2O). This method proved to be successful in lily and the occurrence of homoeologous recombination, a characteristic of meiotic polyploidisation, was detected. In tulip where the production of mitotic polyploids requires at least five years, it will speed up breeding with interspecific hybrids enormously

FORMULATION OF COMPETITION BETWEEN SEXUAL AND SELFING FORMS

In a recent issue, Rausch and Morgan (2005) analyzed the role of selfing in the autopolyploidization process theoretically based on the formulation of Felber (1991), although they did not explicitly model a pollen pool. This paper reformulates the male contribution to outcrossing in terms of gamete frequencies within a pollen pool. This is a general issue when considering competition between sexual and selfing or asexual forms in a single population, which must be considered in theoretical treatments.

Evolution of linkage disequilibrium of the founders in exponentially growing populations

Evolution of linkage disequilibrium of the founders in exponentially growing populations was studied using a time-inhomogeneous Itô process model. The model is an extension of the diffusion approximation of the Wright–Fisher model. As a measure of linkage disequilibrium, the squared standard linkage deviation, which is defined by a ratio of the moments, was considered. A system of ordinary differential equations that these moments obey was obtained. This system can be solved numerically. By simulations, it was shown that the squared standard linkage deviation gives a good approximation of the expectation of the squared correlation coefficient of gamete frequencies. In addition, a perturbative solution was obtained when the growth rate is not large. By using the perturbation, an asymptotic formula for the squared standard linkage deviation after a large number of generations was obtained. According to the formula, the squared standard linkage deviation tends to be 1 / ( 4 Nc ) , where N is the current size of the population and c is the recombination fraction between two loci. It is dependent on neither the initial effective size, the growth rate, nor the mutation rate. In exponentially growing populations, linkage disequilibrium will be asymptotically the same as that in a constant size population, the effective size of which is the current effective size.

Allelic configuration and polysomic inheritance of highly variable microsatellites in tetraploid gynodioecious Thymus praecox agg.

Polyploidy plays a pivotal role in plant evolution. However, polyploids with polysomic inheritance have hitherto been severely underrepresented in plant population genetic studies, mainly due to a lack of appropriate molecular genetic markers. Here we report the establishment and experimental validation of six fully informative microsatellite markers in tetraploid gynodioecious Thymus praecox agg. Sequence data of 150 microsatellite alleles and their flanking regions revealed high variation, which may be characteristic for polyploids with a reticulate evolutionary history. Understanding the patterns of mutation (indels and substitutions) in microsatellite flanking-sequences was a prerequisite for the development of co-dominant markers for fragment analyses. Allelic segregation patterns among progeny arrays from ten test crosses revealed tetrasomic inheritance in T. praecox agg. No evidence of frequent double reduction was detected. Polymerase chain reaction (PCR) based dosage effects allowed for precise assignment of allelic configuration at all six microsatellite loci. The quantification of allele copy numbers in PCR was verified by comparisons of observed and expected gametic allele frequencies and heterozygosities in test crosses. Our study illustrates how PCR based markers can provide reliable estimates of heterozygosity and, thus, powerful tools for breeding system and population genetic analyses in polyploid organisms.

Markov Model of Haploid Random Mating with Given Distribution of Population Size

An exact Markov chain model is formulated and computed for random mating in a haploid gamete pool. There are two versions of the gamete, and there is a finite number of diploid monoecious organisms. The founder population is given, and the subsequent generations allow a prescribed statistical distribution over different population sizes. The non-homogeneous Markov chain works on the haploid gamete level provided the probability of self-fertilization is 1/n, where n is the number of diploid individuals. Standard deviations of gamete frequencies and fixation probabilities are calculated. Effective population sizes for different population size distributions are estimated, including periodic bottlenecks.

The Hitchhiking Effect on Linkage Disequilibrium Between Linked Neutral Loci

We analyzed a three-locus model of genetic hitchhiking with one locus experiencing positive directional selection and two partially linked neutral loci. Following the original hitchhiking approach by Maynard Smith and Haigh, our analysis is purely deterministic. In the first half of the selected phase after a favored mutation has entered the population, hitchhiking may lead to a strong increase of linkage disequilibrium (LD) between the two neutral sites if both are <0.1 s away from the selected site (where s is the selection coefficient). In the second half of the selected phase, the main effect of hitchhiking is to destroy LD. This occurs very quickly (before the end of the selected phase) when the selected site is between both neutral loci. This pattern cannot be attributed to the well-known variation-reducing effect of hitchhiking but is a consequence of secondary hitchhiking effects on the recombinants created in the selected phase. When the selected site is outside the neutral loci (which are, say, <0.1s apart), however, a fast decay of LD is observed only if the selected site is in the immediate neighborhood of one of the neutral sites (i.e., if the recombination rate r between the selected site and one of the neutral sites satisfies r<<0.1 s). If the selected site is far away from the neutral sites (say, r > 0.3 s), the decay rate of LD approaches that of neutrality. Averaging over a uniform distribution of initial gamete frequencies shows that the expected LD at the end of the hitchhiking phase is driven toward zero, while the variance is increased when the selected site is well outside the two neutral sites. When the direction of LD is polarized with respect to the more common allele at each neutral site, hitchhiking creates more positive than negative linkage disequilibrium. Thus, hitchhiking may have a distinctively patterned LD-reducing effect, in particular near the target of selection.

Random Genetic Drift and Gamete Frequency

An analytic expression of conditional expectation of transient gamete frequency, given that one of the two loci remains polymorphic, is obtained in terms of the diffusion process by calculating the moments of the distribution. Using this expression, a model where linkage disequilibrium is introduced by a single mutation is considered. The conditional expectation of the gamete frequency given that the locus with the mutant allele remains polymorphic is presented. The behavior is significantly different from the monotonic decrease observed in the deterministic model without random genetic drift.

Molecular cytogenetics analysis with whole chromosome paint probes of sperm nuclei from a (13;15) Robertsonian translocation carrier

Meiotic segregation of a Robertsonian translocation (13;15) was assessed in sperm nuclei using dual-color fluorescent in situ hybridization (FISH) with whole-chromosome paint probes. Most spermatozoa in the (13;15) translocation carrier resulted from alternate segregation. Although an increased frequency of unbalanced gametes was observed, spontaneous pregnancy led to the birth of a boy with a normal karyotype.

Estimation of gametic frequencies from F2 populations using the EM algorithm and its application in the analysis of crossover interference in rice

The gametes produced in meiosis provide information on the frequency of recombination and also on the interdependence of recombination events, i.e. interference. Using F(2) individuals, it is not possible in all cases to derive the gametes, which have fused, and which provide the information about interference unequivocally when three or more segregating markers are considered simultaneously. Therefore, a method was developed to estimate the gametic frequencies using a maximum likelihood approach together with the expectation maximisation algorithm. This estimation procedure was applied to F(2) mapping data from rice (Oryza sativa L.) to carry out a genome-wide analysis of crossover interference. The distribution of the coefficient of coincidence in dependence on the recombination fraction revealed for all chromosomes increasing positive interference with decreasing interval size. For some chromosomes this mutual inhibition of recombination was not so strong in small intervals. The centromere had a significant effect on interference. The positive interference found in the chromosome arms were reduced significantly when the intervals considered spanned the centromere. Two chromosomes even demonstrated independent recombination and slightly negative interference for small intervals including the centromere. Different marker densities had no effect on the results. In general, interference depended on the frequency of recombination events in relation to the physical length. The strength of the centromere effect on interference seemed to depend on the strength of recombination suppression around the centromere.

Are neopolyploids a likely route for a transgene walk to the wild? The Aegilops ovata × Triticum turgidum durum case

Spontaneous hybridization between durum wheat (Triticum turgidum durum) and Aegilops ovata is regularly observed in nature. The frequency of spontaneous amphiploidy in sympatric populations was estimated at 10 -6 (direct in situ observations and germinated seed collected from A. ovata plants). In nursery conditions some genotype combinations gave frequencies that were much higher at 10 -3 . Genomic in situ hybridization revealed that fertile amphiploids had arisen through unreduced gametes, and that some of them carried wheat - A. ovata recombinant chromosomes. The frequency of production of unreduced gametes is probably genetically inherited. Amphiploids provide a route for gene flow, including that of transgenes, to the wild. Gene flow could potentially be minimized through the choice of wheat cultivars that produce a low frequency of unreduced gametes.

Origin and Distribution of Cr2, a Gene for Resistance to White Pine Blister Rust in Natural Populations of Western White Pine

ABSTRACT The distribution and frequency of the Cr2 gene for resistance to white pine blister rust (Cronartium ribicola) in western white pine (Pinus monticola) was surveyed in natural populations of the host by inoculation of open-pollinated seedlings from 687 individual seed parents from throughout most of the species' range. Because Cr2 is dominant and results in a conspicuous hypersensitive reaction (HR) in pine needles, the phenotype can readily be detected in offspring of susceptible seed parents fertilized by unknown Cr2 donors in the ambient pollen cloud. Gametic frequencies of Cr2 were thus determined as the proportion of total challenged seedlings that were pollen receptors exhibiting the Cr2 phenotype. Zygotic frequencies, the proportion of seed parents with progeny that segregated in Mendelian ratios for the Cr2 phenotype to the total number of parents, were a complementary, though less precise, measure. Cr2 frequency was rare overall, ranging from 0.004 to 0.008 in the Sierra Nevada to about 0.001 in the central Cascade Range; it was undetectable further north in the Cascades, as well as in the Rocky Mountains and Coast Mountains of the United States and Canada. The diminishing frequency of Cr2 from the southern and central Sierra Nevada northward mirrors that of Cr1 in sugar pine (P. lambertiana) and points to this region as the origin of both genes. We rationalize that this coincidence may have resulted from protection that these genes may have conferred on both species to an endemic pine stem rust congeneric with C. ribicola (C. occidentale) in recent geologic epochs.

The different transmission of homoeologous univalent chromosomes 5R, 5A and 5D via eggs and pollen in the wheat-rye aneuploids

Karyological and phenotypic analysis were used to study the transmission rate of homoeologous univalent chromosomes 5A, 5D, and 5R via the eggs and pollen in the F 2 progenies ofthe di-monosomics: 5A-5D, 5A-5R, 5D-5R. It was shown that chromosomes 5A, 5D, and 5R were transferred with various frequencies through gametes of these aneuploids, both under similar or divergent genotypic conditions. We estimated the expected frequencies of gametes with different composition of chromosomes 5A, 5D, and 5R transmitted separately through male and female gametes. It was demonstrated that two different homoeologous univalent chromosomes of the same dimonosomic are transmitted through eggs cells and pollen with different rates. In the progeny of each di-monosomic, the difference in intergenomic chromosome substitution have been observed. The results obtained allow to conclude that the differences in the pattern of intergenomic chromosome substitutions in the progeny of self-pollinated wheat-rye di-monosomics 5R-5A and 5A-5D is determined by the different transmission rate of univalent chromosomes.