Genetics of acheiropodia (the handless and footless families of Brazil). IX. Genetic counseling.

Acheiropodia offers no special problem of a counseling nature. The genetic risk can be easily estimated since the anomaly is due to a rare autosomal recessive gene with complete penetrance and little variation in expression. However, considering that acheiropod individuals have a tremendous handicap (they are born without both hands and feet), it is remarkable how they overcome this difficulty and lead an almost 'normal' life. Several examples are given in this paper. The 'philosophy' of genetic counseling is briefly discussed; emphasis is placed upon the necessity for the geneticist to present the good perspectives, while preparing the consultand for the worst. Even in this last possibility, however, not everything is necessarily lost as the example of the acheiropods attests.     

Genetics of acheiropodia (the handless and footless families of Brazil). VI. Formal genetic analysis.

A genetic analysis is presented of data from 22 Brazilian sibships with cases of acheiropodia (the handless and footless families of Brazil). Segregation analysis performed using a 16K CDC 3100 computer showed a segregation frequency of .245 +/- .040, which is close to the expected value of .25. No sporadic cases were detected. The ascertainment of the probands was through multiple incomplete selection (pi = .55 +/- .07). The data are consistent with the hypothesis of an extremely rare autosomal recessive gene as the etiological factor in acheiropodia. Prevalence is estimated as 29 +/- 4, which is the same as the number of high risk cases; gene frequency equals .0009 +/- .0005, and the incidence at birth is 4 times 10(-6) by the indirect method or 7 times 10(-6) by the direct method. The frequency of heterozygotes at birth is assumed to be 0.18% (450 times the frequency of affected). Population size is approximately 10 million, and the number of founders on a unique-mutation hypothesis is estimated as about 500. All these estimates are first approximations and must be accepted with caution.     

Genetics of Brazil nut (Bertholletia excelsa Humb. & Bonpl.: Lecythidaceae)

Summary We provide an estimate of genetic variation within and between two populations of Bertholletia excelsa (Brazil nut), a large canopy tree found in the rain forests of South America. Average heterozygosity is 0.190, and 54.3% of the sampled loci are polymorphic. The population structure deviates significantly from Hardy-Weinberg expectations for Fest2 and Pgm2 (F =0.405 and 0.443, respectively) in one population, and highly significantly (F=-0.341) for Gdh in the other population. Although allele frequencies of the two populations differ significantly for Aat2, Est5, Mdh1, and Mdh2B, Nei's coefficient of gene differentiation (G_st) indicates that the between-population component (D_st) of genic diversity represents only 3.75% of the size of the within-population component (H_s). The implications of these findings in terms of conservation genetics are that much of the genetic diversity of this species may be preserved within one or a few populations. However, such populations must be very large because it appears that the large amount of genetic variation in Brazil nut populations is maintained by extensive gene flow and bonds of mating over a large area. The genetic architecture of Bertholletia excelsa is similar to that expected for an extensively diploidized paleopolyploid species.     

Historicity and the Population Genetics of Drosophila Melanogaster and D. Simulans

We summarize data showing that there is population structure in African populations of Drosophila from the melanogaster-simulans complex. In D. melanogaster, population structuring is found at individual loci, but is obscured by population structuring for large inversions that simultaneously affect several loci. In D. simulans, molecular polymorphism at the X-linked vermilion locus suggests that different groups of populations have been geographically isolated for some time. Invading populations are probably derived from different areas in Africa. European populations originate from an east African population that was probably not at a demographic equilibrium. The origin of the Antilles population is apparently different and is as yet unknown. In south-western France, populations from these two species undergo different population structuring at the scale of a few kilometres: D. melanogaster makes up a large panmictic population, whereas D. simulans forms a metapopulation that is divided into smaller demes.     

Population Genetics of Polymorphism and Divergence

Frequencies of mutant sites are modeled as a Poisson random field in two species that share a sufficiently recent common ancestor. The selective effect of the new alleles can be favorable, neutral, or detrimental. The model is applied to the sample configurations of nucleotides in the alcohol dehydrogenase gene (Adh) in Drosophila simulans and Drosophila yakuba. Assuming a synonymous mutation rate of 1.5 x 10(-8) per site per year and 10 generations per year, we obtain estimates for the effective population size (N(e) = 6.5 x 10(6)), the species divergence time (tdiv = 3.74 million years), and an average selection coefficient (sigma = 1.53 x 10(-6) per generation for advantageous or mildly detrimental replacements), although it is conceivable that only two of the amino acid replacements were selected and the rest neutral. The analysis, which includes a sampling theory for the independent infinite sites model with selection, also suggests the estimate that the number of amino acids in the enzyme that are susceptible to favorable mutation is in the range 2-23 at any one time. The approach provides a theoretical basis for the use of a 2 x 2 contingency table to compare fixed differences and polymorphic sites with silent sites and amino acid replacements.     

Population Genetics of the Rubber-Producing Russian Dandelion (Taraxacum kok-saghyz)

The Russian dandelion, Taraxacum kok-saghyz (TKS), is a perennial species native to Central Asia that produces high quality, natural rubber. Despite its potential to help maintain a stable worldwide rubber supply, little is known about genetic variation in this species. To facilitate future germplasm improvement efforts, we developed simple-sequence repeat (SSR) markers from available expressed-sequence tag (EST) data and used them to investigate patterns of population genetic diversity in this nascent crop species. We identified numerous SSRs (1,510 total) in 1,248 unigenes from a larger set of 6,960 unigenes (derived from 16,441 ESTs) and designed PCR primers targeting 767 of these loci. Screening of a subset of 192 of these primer pairs resulted in the identification of 48 pairs that appeared to produce single-locus polymorphisms. We then used the most reliable 17 of these primer pairs to genotype 176 individuals from 17 natural TKS populations. We observed an average of 4.8 alleles per locus with population-level expected heterozygosities ranging from 0.28 to 0.50. An average pairwise F_ST of 0.11 indicated moderate but statistically significant levels of genetic differentiation, though there was no clear geographic patterning to this differentiation. We also tested these 17 primer pairs in the widespread common dandelion, T. officinale, and a majority successfully produced apparently single-locus amplicons. This result demonstrates the potential utility of these markers for genetic analyses in other species in the genus.     

Population dynamics of caterpillars on three cover crops before sowing cotton in Mato Grosso (Brazil)

Direct seeding mulch-based cropping systems under a preliminary cover crop such as millet are common in some areas of Brazil. Lepidopteran pests that damage cotton, soybean and maize crops can proliferate on cover crops, so preventive chemical treatments are necessary. Very little data is available on these pests on cover crops. This paper presents the dynamics of Spodoptera frugiperda, S. eridania, Mocis latipes and Diatraea saccharalis caterpillars monitored at Primavera do Leste, Mato Grosso state (Brazil) during the of 2005/2006 and 2006/2007 cropping seasons on four cover crops, i.e. finger millet (Eleusine coracana), pearl millet (Pennisetum glaucum), sorghum (Sorghum bicolor) and ruzigrass (Brachiaria ruziziensis). The pests were visually counted on plants within a 1 m2 transect (wooden frame). Caterpillars were reared to facilitate identification of collected species and parasitoids. Many S. frugiperda caterpillars were observed on millet in 2005, with a maximum of 37 caterpillars/m2. On sorghum, we found 30 caterpillars/m2, or 0.83 caterpillars/plant. The Diatraea borer attacked sorghum later than the other pests. M. latipes was also observed on millet. The millet cover crop had to be dried for at least 1 month before direct drilling the main cotton crop in order to impede S. frugiperda infestations on cotton plantlets, thus avoiding the need for substantial resowing. The comparative methodological aspects are discussed.     

Population dynamics and the colour of environmental noise.

The effect of red, white and blue environmental noise on discrete-time population dynamics is analyzed. The coloured noise is superimposed on Moran-Ricker and Maynard Smith dynamics, the resulting power spectra are less than examined. Time series dominated by short- and long-term fluctuations are said to be blue and red, respectively. In the stable range of the Moran-Ricker dynamics, environmental noise of any colour will make population dynamics red or blue depending the intrinsic growth rate. Thus, telling apart the colour of the noise from the colour of the population dynamics may not be possible. Population dynamics subjected to red and blue environmental noises show, respectively, more red or blue power spectra than those subjected to white noise. The sensitivity to differences in the noise colours decreases with increasing complexity and ultimately disappears in the chaotic range of the population dynamics. These findings are duplicated with the Maynard Smith model for high growth rates when the strength of density dependence changes. However, for low growth rates the power spectra of the population dynamics with noise are red in stable, periodic and aperiodic ranges irrespective of the noise colour. Since chaotic population fluctuations may show blue spectra in the deterministic case, this implies that blue deterministic chaos may become red under any colour of the noise.     

Population Genetics of LEBISTES (POECILIA) RETICULATUS Peters (Poeciliidae; Pisces). I. Effects of Radiation-Induced Mutations on the Segregation Ratio in Postirradiation F2

Wild-type germ cells of the viviparous fish, Lebistes (Poecilia) reticulatus, were irradiated in the stages of oogonia, spermatogonia or spermatozoa with 1000 R of X rays at a dose-rate of 200-220 R/min. The grown-up fish were mated after irradiation or sham treatment to unirradiated mutant fish homozygous for three recessive gene loci, causing albinism, lack of yellow and reddish pigmentation ("blue" constitution), and diminution of the size of melanophores ("blond" constitution). As compared to the control series, the phenotypic segregation ratios in the adult F(2) generation after irradiation was changed significantly in favour of wild-type and blue fish, whereas the proportion of albinotic, blond and "white" (= blond + blue) guppies was lowered. This unidirectional effect in postirradiation F(2) was greatest after exposure of spermatozoa with 2 x 500 R (24 hr apart), followed by single doses of 1000 R to spermatogonia and oogonia. These results were explained in terms of a synergistic interaction of recessive radiation-induced mutations in the heterozygous state with those genotypes of the guppy which affect the formation of melanophoric patterns and the synthesis of melanins.     

Genetics of Patau's syndrome (an analysis of 59 families)

Different parental translocations were observed in 11 out of 59 families where a child with Patau's syndrome was born. All cases, except for one with t(13; 18) (q14; q23) in the father, revealed the Robertsonian translocations. In most cases there were t(13; 14). The t(13; 15) and t(13; 13) translocations were detected in one mother each. The latter woman bore three babies with Patau's syndrome. One boy in this series had trisomy 13 and sporadic translocation t(2; 22) (q31; q13) simultaneously.     

Population dynamics of two suspension-feeding bivalves on a sheltered beach in southeastern Brazil

The population biology and secondary production of the bivalves Anomalocardia brasiliana (Gmelin, 1791) and Diplodonta punctata (Say, 1822) were studied on a sheltered beach on the southeast coast of Brazil (Flexeiras Beach) between December 2006 and February 2009. Six transects were established perpendicular to the shoreline. Along each transect, sampling units (SUs) were extracted every 3?m, with a 0.04?m² metal sampler and to a depth of 25?cm, from the base of the boulder wall until 9?m below the waterline during low tide. The abundances of A. brasiliana and D. punctata were inversely correlated over time. The populations differed in several aspects: (1) A. brasiliana occupied mainly the upper levels, whereas D. punctata occupied the lower level of the beach; (2) total abundance, growth rate, and production were higher for A. brasiliana; and (3) mortality and turnover rate were higher for D. punctata. The differences in growth, mortality, and production parameters may be associated with a difference in the species’ abilities to exploit resources.     

Population Genetics of Euphydryas Butterflies. I. Genetic Variation and the Neutrality Hypothesis

Twenty-one populations of the checkerspot butterfly, Euphydryas editha, and ten populations of Euphydryas chalcedona were sampled for genetic variation at eight polymorphic enzyme loci. Both species possessed loci that were highly variable from population to population and loci that were virtually identical across all populations sampled. Our data indicate that the neutrality hypothesis is untenable for the loci studied, and therefore selection is indicated as the major factor responsible for producing these patterns. Thorough ecological work allowed gene flow to be ruled out (in almost all instances) as a factor maintaining similar gene frequencies across populations. The Lewontin-Krakauer test indicated magnitudes of heterogeneity among standardized variances of gene frequencies inconsistent with the neutrality hypothesis. The question of whether or not to correct this statistic for sample size is discussed. Observed equitability of gene frequencies of multiple allelic loci was found to be greater than that predicted under the neutrality hypothesis. Genetic differentiation persisting through two generations was found between the one pair of populations known to exchange significant numbers of individuals per generation. Two matrices of genetic distance between populations, based on the eight loci sampled, were found to be significantly correlated with a matrix of environmental distance, based on measures of fourteen environmental parameters. Correlations between gene frequencies and environmental parameters, results of multiple regression analysis, and results of principle component analysis showed strong patterns of association and of "explained" variation. The correlation analyses suggest which factors might be further investigated as proximate selective agents.     

Population dynamics of Simocephalus vetulus (O.F.Muller)

Investigations on the population of Simocephalus vetulus (O.F.Muller)were carried out both in natural and laboratory conditions,at different temperatures and food concentrations. The temperatureand food were found to have a pronounced bearing upon the rateof development and the life span of this zooplankter. The temperaturealso influenced the rate of growth and the size of populationby increasing the instantaneous rate of birth. Besides foodand temperature, the hydrogen ion concentration of the wateralso appeared to influence the size of the population. Therewas a positive correlation between fecundity and death ratewith a strong facultative relationship between fecundity andfood supply.