Further results on the survival of a gene represented in a founder population

This paper is concerned with gene survival in a population which may increase without density dependence according to a generalization of the Moran model for haploid individuals. A selective advantage to one allele and the possibility of differential reproductive rates are allowed. Simple conditions are given for ultimate homozygosity to be certain and for the possibility of ultimate polymorphism. The results complement and extend those of Heyde (1981, 1982).     

MODY 2: Mutation identification and molecular ancestry in a Brazilian family

Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of genetic diseases characterized by a primary defect in insulin secretion and hyperglycemia, non-ketotic disease, monogenic autosomal dominant mode of inheritance, age at onset less than 25 years, and lack of auto-antibodies. It accounts for 2–5% of all cases of non-type 1 diabetes. MODY subtype 2 is caused by mutations in the glucokinase (GCK) gene. In this study, we sequenced the GCK gene of two volunteers with clinical diagnosis for MODY2 and we were able to identify four mutations including one for a premature stop codon (c.76C>T). Based on these results, we have developed a specific PCR-RFLP assay to detect this mutation and tested 122 related volunteers from the same family. This mutation in the GCK gene was detected in 21 additional subjects who also had the clinical features of this genetic disease. In conclusion, we identified new GCK gene mutations in a Brazilian family of Italian descendance, with one due to a premature stop codon located in the second exon of the gene. We also developed a specific assay that is fast, cheap and reliable to detect this mutation. Finally, we built a molecular ancestry model based on our results for the migration of individuals carrying this genetic mutation from Northern Italy to Brazil.     

Variability and genetics of spacer DNA sequences between the ribosomal-RNA genes of hexaploid wheat (Triticum aestivum)

Summary Using restriction enzyme digests of genomic DNA extracted from the leaves of 25 hexaploid wheat (Triticum aestivum L. em. Thell.) cultivars and their hybrids, restriction fragment length polymorphisms of the spacer DNA which separates the ribosomal-RNA genes have been examined. (From one to three thousand of these genes are borne on chromosomes 1B and 6B of hexaploid wheat). The data show that there are three distinct alleles of the 1B locus, designated Nor-B1a, Nor-B1b, and Nor-B1c, and at least five allelic variants of the 6B locus, designated Nor-B2a, Nor-B2b, Nor-B2c, Nor-B2d, and Nor-B2e. A further, previously reported allele on 6B has been named Nor-B2f. Chromosome 5D has only one allelic variant, Nor-D3. Whereas the major spacer variants of the 1B alleles apparently differ by the loss or gain of one or two of the 133 bp sub-repeat units within the spacer DNA, the 6B allelic variants show major differences in their compositions and lengths. This may be related to the greater number of rDNA repeat units at this locus. The practical implications of these differences and their application to wheat breeding are discussed.     

Geography of sexual dimorphism in the tooth size of the red fox Vulpes vulpes (Mammalia, Carnivora)

Geographic variation in sexual dimorphism of tooth size was assessed for the red fox Vulpes vulpes (Linnaeus, 1758) across the whole northern range of the species. Twenty-one measurements of tooth size and skull length were taken from 2849 specimens (1577 males and 1272 females) originating from 12 Nearctic and 25 Palearctic localities. The index of sexual dimorphism was calculated as a quotient of the mean measure of certain characters in males by the respective mean in females ( M _m/ M _f). In the whole range, the males were larger than females and mean dimorphism index of tooth size ranged from 1.01 to 1.06. On average, the tooth measurements in males were 3.6% larger than in females. The highest dimorphism was observed in the canines. Dimorphism of tooth size was higher in the Palearctic than Nearctic. Statistically significant differences between regions were found for lengths of C¹, C₁ and M₁. In the Palearctic, higher values of the dimorphism indices were observed particularly in the southern parts of the Eurasian range of the red fox and in Great Britain. For a few metrical traits, sexual dimorphism indices presented significant relations to some geo-climatic variables. The geographic pattern of size dimorphism in the red fox seems to be shaped by sexual selection, intraspecific and interspecific competition and population density.     

Pollen size-number trade-off and pollen-pistil relationships in Pedicularis (Orobanchaceae)

Current patterns of floral design in Pedicularis must have undergone an evolutionary process of interacting among components of floral traits, and then formed internal relationships among these traits. To detect such correlations, which may provide insight to understand flower evolution, 40 Pedicularis species representing all corolla types of the genus were studied. Results show that, interspecifically, pollen size correlates negatively with pollen number, but positively with pistil length. This suggests that plants evolve an optimal pollen size, which balances the advantages of large pollen size for gametophytic competition against the fecundity disadvantages of fewer pollen grains. In contrast to sex allocation theory, this study does not find a trade-off, but an interspecific positive correlation between pollen and ovule number. This is consistent with the hypothesis that genetic variation for resource acquisition may in part be responsible for the lack of negative correlation between male and female function.This work was supported by the State Key Basic Research and Development Plan, China (Grant No. G2000046804) to YHG. The authors would like to thank Peter K. Endress and two anonymous reviewers for providing critical comments and helpful suggestions, Qing-Feng Wang, Jing-Yuan Wang and Jin-Ming Chen for their helpful suggestions. Shi-Guo Sun, Jing Xia, and Qian Yu are thanked for their assistance in both the field work and laboratory phases of the project.     

Thermal melting and circular dichroism of DNA complexes with (Lys-Ala-Ala)10 and (Lys-Ala-Ala)n: effect of polypeptide chain length

DNA complexes with polypeptides (Lys-Ala-Ala)₁)] and (Lys-Ala-Ala)₃₄ have been studied using the methods of thermal melting and circular dichroism. Derivative melting curves of (Lys-Ala-Ala)₁₀ DNA differed substantially from those of (Lys-Ala-Ala)₃₄ prepared either by salt gradient dialysis or by direct mixing. Melting curves of the former complex were unimodal or bimodal with T_m increasing continuously withn input lysin-to-DNA phosphate ratio (r); those of the latter complex consisted of three separate transitions with T_m values almost independent of r. Complete reversibility of binding in the (Lys-Ala-Ala)₁₀-DNA system but a slow redistribution of (Lys-Ala-Ala)₃₄ on DNA at low temperature were found in the redistribution experiments Much faster redistribution from denatured to native DNA occurs at the temperature of melting, contributing to the unusual trimodal melting pattern. Circular dichroism curves are very similar for both complexes and indicate little change of DNA conformation upon polypeptide binding.     

Fine root distribution of trees and understory in mature stands of maritime pine (Pinus pinaster) on dry and humid sites

Maritime pine (Pinus pinaster) is the main tree cropping species in the Landes of Gascogne forest range in south western France. Soils are nutrient poor, sandy podzosols and site fertility is determined essentially by organic matter content and depth of water table, which is known to limit root growth. We hypothesised, with an ultimate goal of constructing a nutrient uptake model applicable to this region, that the organic top horizons together with the depth of the water table should be the most important parameters related to fine root distribution and presence of associated mycorrhiza. To test this hypothesis, we compared two adult Pinus pinaster stands, contrasting in depth of water table and soil fertility and evaluated fine roots (diameter ≤2 mm) of understory species and fine roots and ectomycorrhizal morphotypes of Pinus pinaster down to 1.2 m, using a soil corer approach. Total fine root biomass of Pinus pinaster was not significantly different between both sites (3.6 and 4.5 t ha⁻¹ for the humid, respectively, dry site), but root distribution was significantly shallower and root diameter increased more with depth at the humid site, presumably due to more adverse soil conditions as related to the presence of a hardpan, higher amount of aluminium oxides and / or anoxia. Fine roots of Pinus pinaster represented only about 30% of total fine root biomass and 15% of total fine root length, suggesting that the understory species cannot be ignored with regards to competition for mineral nutrients and water. A comparison of the ectomycorrhizal morphotypes showed that the humid site could be characterised by a very large proportion of contact exploration types, thought to be more relevant in accessing organic nutrient sources, whereas the dry site had a significantly higher proportion of both long-distance and short-distance exploration types, the latter of which was thought to be more resistant to short-term drought periods. These results partly confirm our hypothesis on root distribution as related to the presence of soil mineral nutrients (i.e. in organic matter), point out the potential role of understory plant species and ectomycorrhizal symbiosis and are a valuable step in building a site-specific nutrient uptake model.     

Stride length determination during overground running using a single foot-mounted inertial measurement unit

From a research perspective, detailed knowledge about stride length (SL) is important for coaches, clinicians and researchers because together with stride rate it determines the speed of locomotion. Moreover, individual SL vectors represent the integrated output of different biomechanical determinants and as such provide valuable insight into the control of running gait. In recent years, several studies have tried to estimate SL using body-mounted inertial measurement units (IMUs) and have reported promising results. However, many studies have used systems based on multiple sensors or have only focused on estimating SL for walking. Here we test the concurrent validity of a single foot-mounted, 9-degree of freedom IMU to estimate SL for running. We employed a running-specific, Kalman filter based zero-velocity update (ZUPT) algorithm to calculate individual SL vectors with the IMU and compared the results to SLs that were simultaneously recorded by a 6-camera 3D motion capture system. The results showed that the analytical procedures were able to successfully identify all strides that were recorded by the camera system and that excellent levels of absolute agreement (ICC(3,1) = 0.955) existed between the two methods. The findings demonstrate that individual SL vectors can be accurately estimated with a single foot-mounted IMU when running in a controlled laboratory setting.