High heritability of metabolomic profiles in families burdened with premature cardiovascular disease

Integration of genetic and metabolic profiling holds promise for providing insight into human disease. Coronary artery disease (CAD) is strongly heritable, but the heritability of metabolomic profiles has not been evaluated in humans. We performed quantitative mass spectrometry‐based metabolic profiling in 117 individuals within eight multiplex families from the GENECARD study of premature CAD. Heritabilities were calculated using variance components. We found high heritabilities for amino acids (arginine, ornithine, alanine, proline, leucine/isoleucine, valine, glutamate/glutamine, phenylalanine and glycine; h²=0.33–0.80, P=0.005–1.9 × 10^?16), free fatty acids (arachidonic, palmitic, linoleic; h²=0.48–0.59, P=0.002–0.00005) and acylcarnitines (h²=0.23–0.79, P=0.05–0.0000002). Principal components analysis was used to identify metabolite clusters. Reflecting individual metabolites, several components were heritable, including components comprised of ketones, β‐hydroxybutyrate and C2‐acylcarnitine (h²=0.61); short‐ and medium‐chain acylcarnitines (h²=0.39); amino acids (h²=0.44); long‐chain acylcarnitines (h²=0.39) and branched‐chain amino acids (h²=0.27). We report a novel finding of high heritabilities of metabolites in premature CAD, establishing a possible genetic basis for these profiles. These results have implications for understanding CAD pathophysiology and genetics.     

A candidate-SNP retrospective cohort study for fracture risk in Japanese Thoroughbred racehorses

Fractures are medical conditions that compromise the athletic potential of horses and/or the safety of jockeys. Therefore, the reduction of fracture risk is an important horse and human welfare issue. The present study used molecular genetic approaches to determine the effect of genetic risk for fracture at four candidate SNPs spanning the myostatin (MSTN) gene on horse chromosome 18. Among the 3706 Japanese Thoroughbred racehorses, 1089 (29.4%) had experienced fractures in their athletic life, indicating the common occurrence of this injury in Thoroughbreds. In the case/control association study, fractures of the carpus (carpal bones and distal radius) were statistically associated with g.65809482T/C (P = 1.17 x 10^-8), g.65868604G/T (P = 2.66 x 10^-9), and g.66493737C/T (P = 6.41 x 10^-8). In the retrospective cohort study using 1710 racehorses born in 2000, the relative risk (RR) was highest for male horses at g.65868604G/T, based on the dominant allele risk model (RR = 2.251, 95% confidence interval 1.407–3.604, P = 0.00041), and for female horses at g.65868604G/T, based on the recessive allele risk model (RR = 2.313, 95% confidence interval 1.380–3.877, P = 0.00163). Considering the association of these SNPs with racing performance traits such as speed, these genotypes may affect the occurrence of carpus fractures in Japanese Thoroughbred racehorses as a consequence of the non-genetic influence of the genotype on the distance and/or intensity of racing and training. The genetic information presented here may contribute to the development of strategic training programs and racing plans for racehorses that improve their health and welfare.     

Genetic correlations between conformation traits and radiographic findings in the limbs of German Warmblood riding horses

Studbook inspection (SBI) data of 20 768 German Warmblood mares and radiography results (RR) data of 5102 Hanoverian Warmblood horses were used for genetic correlation analyses. The scores on a scale from 0 to 10 were given for conformation and basic quality of gaits, resulting in 14 SBI traits which were used for the correlation analyses. The radiographic findings considered included osseous fragments in fetlock (OFF) and hock joints (OFH), deforming arthropathy in hock joints (DAH) and distinct radiographic findings in the navicular bones (DNB) which were analyzed as binary traits, and radiographic appearance of the navicular bones (RNB) which was analyzed as a quasi-linear trait. Genetic parameters were estimated multivariately in linear animal models with REML using information on 24 448 horses with SBI and/or RR records. The ranges of heritability estimates were h² = 0.14–0.34 for the RR traits and h² = 0.09–0.50 for the SBI traits. Negative additive genetic correlations of r_g = -0.19 to -0.56 were estimated between OFF and conformation of front and hind limbs and walk at hand, and between DNB and hind limb conformation. There were indications of negative additive genetic correlations between DAH and all SBI traits, but because of low prevalence and low heritability of DAH, these results require further scrutiny. Positive additive genetic correlations of r_g = 0.37–0.52 were estimated between OFF and withers height and between OFH and withers height, indicating that selection for taller horses will increase disposition to develop OFF and OFH. Selection of broodmares with regards to functional conformation will assist, but cannot replace possible selection against radiographic findings in the limbs of young Warmblood riding horses, particularly with regards to OFF.     

A Sequence Polymorphism in MSTN Predicts Sprinting Ability and Racing Stamina in Thoroughbred Horses

Variants of the MSTN gene encoding myostatin are associated with muscle hypertrophy phenotypes in a range of mammalian species, most notably cattle, dogs, mice, and humans. Using a sample of registered Thoroughbred horses (n = 148), we have identified a novel MSTN sequence polymorphism that is strongly associated (g.66493737C>T, P = 4.85×10⁻⁸) with best race distance among elite racehorses (n = 79). This observation was independently validated (P = 1.91×10⁻⁶) in a resampled group of Thoroughbreds (n = 62) and in a cohort of Thoroughbreds (n = 37, P = 0.0047) produced by the same trainer. We observed that C/C horses are suited to fast, short-distance races; C/T horses compete favorably in middle-distance races; and T/T horses have greater stamina. Evaluation of retrospective racecourse performance (n = 142) and stallion progeny performance predict that C/C and C/T horses are more likely to be successful two-year-old racehorses than T/T animals. Here we describe for the first time the identification of a gene variant in Thoroughbred racehorses that is predictive of genetic potential for an athletic phenotype.     

Analysis of genetic variation contributing to measured speed in Thoroughbreds identifies genomic regions involved in the transcriptional response to exercise

Despite strong selection for athletic traits in Thoroughbred horses, there is marked variation in speed and aptitude for racing performance within the breed. Using global positioning system monitoring during exercise training, we measured speed variables and temporal changes in speed with age to derive phenotypes for GWAS. The aim of the study was to test the hypothesis that genetic variation contributes to variation in end‐point physiological traits, in this case galloping speed measured during field exercise tests. Standardisation of field‐measured phenotypes was attempted by assessing horses exercised on the same gallop track and managed under similar conditions by a single trainer. PCA of six key speed indices captured 73.9% of the variation with principal component 1 (PC1). Verifying the utility of the phenotype, we observed that PC1 (median) in 2‐year‐old horses was significantly different among elite, non‐elite and unraced horses (P < 0.001) and the temporal change with age in PC1 varied among horses with different myostatin (MSTN) g.66493737C>T SNP genotypes. A GWAS for PC1 in 2‐year‐old horses (n = 122) identified four SNPs reaching the suggestive threshold for association (P < 4.80 × 10^?5), defining a 1.09 Mb candidate region on ECA8 containing the myosin XVIIIB (MYO18B) gene. In a GWAS for temporal change in PC1 with age (n = 168), five SNPs reached the suggestive threshold for association and defined candidate regions on ECA2 and ECA11. Both regions contained genes that are significantly differentially expressed in equine skeletal muscle in response to acute exercise and training stimuli, including MYO18A. As MYO18A plays a regulatory role in the skeletal muscle response to exercise, the identified genomic variation proximal to the myosin family genes may be important for the regulation of the response to exercise and training.     

Physiological variables and mitochondrial-related genotypes of an athlete who excels in both short and long-distance running

We report the athletic, physiological and mitochondrial-related genomic data of an Israeli endurance runner. He is holding the Israeli record in 10,000, 5000, 1500 and 800 m run, along with being one of the best Israeli 400 m runners. We tested the ACTN3 R577X, and six polymorphisms in the PPARGC1A-NRF-TFAM pathway genes. The case athlete was heterozygous for the ACTN3 R577X variation and had five out of six ‘endurance-oriented’ genotypes, scoring significantly high in endurance ‘optimal’ genotype profile. In conclusion, we suggest that the case athlete is favoured by polygenic profile that is more suitable for mitochondrial biogenesis, regardless of his good phenotypic accomplishments in short-term running events.     

Post‐weaning parental care increases fitness but is not heritable in North American red squirrels

Most empirical attempts to explain the evolution of parental care have focused on its costs and benefits (i.e. fitness consequences). In contrast, few investigations have been made of the other necessary prerequisite for evolutionary change, inheritance. Here, we examine the fitness consequences and heritability (h²) of a post‐weaning parental care behaviour (territory bequeathal) in a wild population of North American red squirrels. Each year, a subset (average across all years = 19%) of reproductive females bequeathed their territory to a dependent offspring. Bequeathing females experienced higher annual reproductive success and did not suffer a survival cost to themselves relative to those females retaining their territory. Bequeathing females thus realized higher relative annual fitness [ω = 1.18 ± 0.03 (SE)] than nonbequeathing females [ω = 0.96 ± 0.02 (SE)]. Additive genetic influences on bequeathal behaviour, however, were not significantly different from 0 (h² = 1.9 × 10^?3; 95% highest posterior density interval = 3.04 × 10^?8 to 0.37) and, in fact, bequeathal behaviour was not significantly repeatable (R = 2.0 × 10^?3; 95% HPD interval =0–0.27). In contrast, directional environmental influences were apparent. Females were more likely to bequeath in years following low food abundance and when food availability in the upcoming autumn was high. Despite an evident fitness benefit, a lack of heritable genetic variance will constrain evolution of this trait.     

Identification and characterization of porcine mannan-binding lectin A (pMBL-A), and determination of serum concentration heritability

Mannan-binding lectin (MBL) is an innate immune collectin present in the serum of humans and many farm animals. This oligomeric pattern-recognition protein effectively binds to the glycoconjugate arrays present on the surfaces of microorganisms and activates the complement system to enhance pathogen killing and clearance. MBL deficiency is often associated with immunodeficiency in humans. Although two MBLs (MBL-A and MBL-C) have been characterized in various species, the identity of porcine MBL (pMBL) was not clearly defined. In this study, we purified an MBL from porcine serum by mannose affinity, ion exchange, and size exclusion chromatography and determined many of its characteristics. Based on the N-terminal sequence, multiple sequence alignment, and relative affinities to various carbohydrate ligands, we propose that the MBL purified in this study is pMBL-A. We have generated antibodies to this protein and established an immunoassay to quantify pMBL-A in serum. Using this assay, we found breed differences in pMBL-A concentration distributions and heritability estimates. In the Duroc breed (n=588), pMBL-A concentrations show a unimodal distribution with a mean of 9,125 ng/ml. In contrast, the pMBL-A concentration distributions in the Landrace breed (n=533) show three distinct mean values: 301, 2,385, and 11,507 ng/ml. Furthermore, heritability calculations based on an additive genetic variance model with no fixed effects indicate that serum pMBL-A concentration is highly heritable in the Landrace (h ²=0.8) but not in the Duroc breed (h ²=0.15). These genetic differences may be useful in selecting breeding pigs for improved disease resistance.     

Heritability of anti‐predatory traits: vigilance and locomotor performance in marmots

Animals must allocate some proportion of their time to detecting predators. In birds and mammals, such anti‐predator vigilance has been well studied, and we know that it may be influenced by a variety of intrinsic and extrinsic factors. Despite hundreds of studies focusing on vigilance and suggestions that there are individual differences in vigilance, there have been no prior studies examining its heritability in the field. Here, we present one of the first reports of (additive) genetic variation in vigilance. Using a restricted maximum likelihood procedure, we found that, in yellow‐bellied marmots (Marmota flaviventris), the heritability of locomotor ability (h² = 0.21), and especially vigilance (h² = 0.08), is low. These modest heritability estimates suggest great environmental variation or a history of directional selection eliminating genetic variation in these traits. We also found a significant phenotypic (r_P = ?0.09 ± 0.04, P = 0.024) and a substantial, but not significant, genetic correlation (r_A = ?0.57 ± 0.28, P = 0.082) between the two traits (slower animals are less vigilant while foraging). We found no evidence of differential survival or longevity associated with particular phenotypes of either trait. The genetic correlation may persist because of environmental heterogeneity and genotype‐by‐environment interactions maintaining the correlation, or because there are two ways to solve the problem of foraging in exposed areas: be very vigilant and rely on early detection coupled with speed to escape, or reduce vigilance to minimize time spent in an exposed location. Both strategies seem to be equally successful, and this ‘locomotor ability‐wariness’ syndrome may therefore allow slow animals to compensate behaviourally for their impaired locomotor ability.     

A QTL on chromosome 3q23 influences processing speed in humans

Processing speed is a psychological construct that refers to the speed with which an individual can perform any cognitive operation. Processing speed correlates strongly with general cognitive ability, declines sharply with age and is impaired across a number of neurological and psychiatric disorders. Thus, identifying genes that influence processing speed will likely improve understanding of the genetics of intelligence, biological aging and the etiologies of numerous disorders. Previous genetics studies of processing speed have relied on simple phenotypes (eg, mean reaction time) derived from single tasks. This strategy assumes, erroneously, that processing speed is a unitary construct. In the present study, we aimed to characterize the genetic architecture of processing speed by using a multidimensional model applied to a battery of cognitive tasks. Linkage and QTL‐specific association analyses were performed on the factors from this model. The randomly ascertained sample comprised 1291 Mexican‐American individuals from extended pedigrees. We found that performance on all three distinct processing‐speed factors (Psychomotor Speed; Sequencing and Shifting and Verbal Fluency) were moderately and significantly heritable. We identified a genome‐wide significant quantitative trait locus (QTL) on chromosome 3q23 for Psychomotor Speed (LOD = 4.83). Within this locus, we identified a plausible and interesting candidate gene for Psychomotor Speed (Z = 2.90, P = 1.86 × 10^?03).     

Distribution and movement of juvenile and sub‐adult Chinese sturgeon (Acipenser sinensis Gray, 1835) in the Three Gorges Reservoir and the adjacent upstream free‐flowing Yangtze River section: a re‐introduction trial

The aim of this 2008–2012 study was to prove the hypothesis that the Three Gorges Reservoir (TGR) and the upper free‐flowing section can offer a habitat for restocking the Chinese sturgeon, Acipenser sinensis. Thus, 498 cultured A. sinensis (including 28 sub‐adults tagged with ultrasonic transmitters) were released into the TGR and the adjacent free‐flowing section of the Yangtze River. The distribution, movement and growth of the released fish were collected by acoustic telemetry and bycatch information. Results indicated that only three sub‐adults migrated upstream to the free‐flowing section where they remained for the three‐year observation (limited by the longevity of the transmitter battery). However, most sub‐adults migrated downstream after release, with a migration distance of 15–877 km as well as a tracking duration from 19 to 6063 h. The downstream traveling speed in the free‐flowing section (mean = 3.70 km h^?1, range = 1.51 – 8.25 km h^?1) was significantly faster than that in the reservoir section (mean = 1.05 km h^?1, range = 0.12 – 1.82 km h^?1; p < 0.05). Only three sub‐adults migrated to within 3 km of Three Gorges Dam (TGD) and stayed in the reservoir. Sub‐adults stayed obviously deeper within the reservoir (mean = 11.47 m) than in the free‐flowing section (mean = 3.63 m; p < 0.05). Juveniles were recaptured from 45 – 810 km downstream their release sites with a mean traveling speed of 1.05 km h^?1 (range = 0.13 – 1.82 km h^?1), lower than that of the sub‐adults released in the free‐flowing section. Twelve percent of juveniles released in one of the tributaries of the Yangtze River found the entrance and migrated downstream to the reservoir within the first 30 days. Average body weight of the recaptured juveniles increased by 10.3% (range = 2.3% – 15.3%) and some crustaceans (e.g. river shrimp) were found in the stomach and gut of two juveniles. The results demonstrate that the TGR and its adjacent upstream free‐flowing Yangtze River section can serve as reintroduction sites to support a certain quantity of Chinese sturgeon to remain and mature there.     

Evolutionary potential of thermal preference and heat tolerance in Drosophila subobscura

Evolutionary change of thermal traits (i.e., heat tolerance and behavioural thermoregulation) is one of the most important mechanisms exhibited by organisms to respond to global warming. However, the evolutionary potential of heat tolerance, estimated as narrow‐sense heritability, depends on the methodology employed. An alternative adaptive mechanism to buffer extreme temperatures is behavioural thermoregulation, although the association between heat tolerance and thermal preference is not clearly understood. We suspect that methodological effects associated with the duration of heat stress during thermal tolerance assays are responsible for missing this genetic association. To test this hypothesis, we estimated the heritabilities and genetic correlations for thermal traits in Drosophila subobscura, using high‐temperature static and slow ramping assays. We found that heritability for heat tolerance was higher in static assays (h² = 0.134) than in slow ramping assays (h² = 0.084), suggesting that fast assays may provide a more precise estimation of the genetic variation of heat tolerance. In addition, thermal preference exhibited a low heritability (h² = 0.066), suggesting a reduced evolutionary response for this trait. We also found that the different estimates of heat tolerance and thermal preference were not genetically correlated, regardless of how heat tolerance was estimated. In conclusion, our data suggest that these thermal traits can evolve independently in this species. In agreement with previous evidence, these results indicate that methodology may have an important impact on genetic estimates of heat tolerance and that fast assays are more likely to detect the genetic component of heat tolerance.     

Genetic variation of growth and tree quality traits among 42 diverse genetic origins of Tectona grandis planted under humid tropical conditions in Sabah, East Malaysia

Forty-two different genetic origins of teak (Tectona grandis) comprising 26 open-pollinated families from a clonal seed orchard (CSO) were planted in a replicated trial under 2,500 mm of annual rainfall and no distinct dry season, in 1997, in Sabah, East Malaysia. The trees were measured or scored for various traits at 13, 35, 49, 61, 72, 85, 96, and 106 months after planting. Mortality rate, height (H), diameter at breast height (DBH), volume (V), and fork height (FH) varied strongly among populations and origins. The best population means after 106 months for growth H (21.1 m), DBH (21.1 cm), and V (278 dm³) were for the CSO families. Narrow sense heritabilities for the CSO families increased gradually with age but remained lower after 106 months for DBH (h ² = 0.24) and V (h ² = 0.34) than for H (h ² = 0.51) and FH (h ² = 0.56). Overall, the CSO families were also straighter, less forked, and grew more vertically than the native provenance and seed-derived sources. Such differences did not exist for flowering ability, and at 106 months, the great majority of the trees of the various origins had not yet entered the flowering stage. Overall, at 106 months, the phenotypic correlations between the various quantitative and qualitative traits were weak, except between straightness and bending with values higher than 0.50. These findings confirm the usefulness of CSO for teak improvement and demonstrate the beneficial influence of wet tropical conditions on traits of major economical importance for this species.     

Lymphocyte subsets and T(h)1/T(h)2 immune responses in patients with adenocarcinoma of the oesophagus or oesophagogastric junction: relation to pTNM stage and clinical outcome

Introduction Recent studies have indicated that the cytokines produced by CD4⁺ T helper type 1 (T_h1) and type 2 (T_h2) cells are critically important in antitumour immunity and perhaps clinical outcome. From this perspective, we investigated the immunocompetence of patients with previously untreated cancer of the oesophagus or oesophagogastric junction (OGJ) in relation to stage of disease and postoperative survival.Methods Blood samples were taken prior to surgery from 32 patients with adenocarcinoma of the oesophagus or OGJ. Ten healthy volunteers served as normal controls. T-cell and monocyte subpopulations were determined using flow cytometry. Monocyte as well as T_h1- and T_h2-lymphocyte cytokine levels were assessed in stimulated whole blood cultures.Results Absolute T-cell and monocyte (subset) counts as well as monocyte cytokine levels were similar among patients and controls. Production of T_h1-type cytokines was higher in patients than in controls (IFN-, p=0.01; IL-2, p=0.05), whereas T_h2-type cytokine levels were comparable (IL-4, p=0.5; IL-13, p=0.3). T-cell CD4⁺/CD8⁺ ratios decreased as pTNM stage worsened (stage I/II vs stage III/IV, p=0.009). Of all measured immunological parameters, only IL-2 production significantly affected both overall survival (p=0.015) and disease-free survival (p=0.0062). High IL-2 levels corresponded with a favourable prognosis.Conclusions Patients awaiting surgery for adenocarcinoma of the oesophagus or oesophagogastric junction demonstrated a shift in the T_h1/T_h2 balance—in favour of T_h1—compared with healthy volunteers. The ability of T cells to produce IL-2 was related to survival indicating a crucial role of T_h1-type cells in antitumour immunosurveillance.     

Assessment of middle-distance running performance in sub-elite young runners using energy cost of running

The purpose of this study was to assess the validity of v _amax as an indicator of middle-distance running performance in sub-elite young runners, _amax being defined as the quotient maximal oxygen uptake (V˙O _2max) divided by the net energy cost of running (C _r) on a treadmill at a submaximal running velocity (280 m · min⁻¹). The V˙O _2max, ventilatory threshold, _amax, and C _r were assessed in 39 young male sub-elite runners having only small variations in performance level. The relationship between each variable and running performance (at 1500 m, 3000 m, and 5000 m) was evaluated. A trend toward a negative correlation existed between C _r and performance although this was not significant. The V˙O _2max and _amax were significantly related to performance. The _amax accounted for around 50% of the variability in performance whereas other physiological variables selected in this study were responsible, at best, for approximately 39%. The results presented in this study suggested that _amax was a useful indicator of middle-distance running performance in sub-elite young runners with similar performance levels as well as in top elite athletes. Accepted: 19 August 1997     

Recent progress in the study of the genetics of height

Adult height is a classic polygenic trait of high narrow-sense heritability (h ² = 0.8). In the late nineteenth to early twentieth century, variation in adult height was used as a model to set the foundation of the fields of statistics and quantitative genetics. More recently, with our increasing knowledge concerning the extent of genetic variation in the human genome, human geneticists have used genome-wide association studies to identify hundreds of loci robustly associated with adult height, providing new insights into human growth and development, and into the architecture of complex human traits. In this review, I highlight the progress made in the last 2 years in understanding how genetic variation controls height variation in humans, including non-Caucasian populations and children.     

Genetic investigation of equine recurrent uveitis in Appaloosa horses

Equine recurrent uveitis (ERU) is characterized by intraocular inflammation that often leads to blindness in horses. Appaloosas are more likely than any other breed to develop insidious ERU, distinguished by low-grade chronic intraocular inflammation, suggesting a genetic predisposition. Appaloosas are known for their white coat spotting patterns caused by the leopard complex spotting allele (LP) and the modifier PATN1. A marker linked to LP on ECA1 and markers near MHC on ECA20 were previously associated with increased ERU risk. This study aims to further investigate these loci and identify additional genetic risk factors. A GWAS was performed using the Illumina Equine SNP70 BeadChip in 91 horses. Additive mixed model approaches were used to correct for relatedness. Although they do not reach a strict Bonferroni genome-wide significance threshold, two SNPs on ECA1 and one SNP each on ECA12 and ECA29 were among the highest ranking SNPs and thus warranted further analysis (P = 1.20 × 10⁻⁵, P = 5.91 × 10⁻⁶, P = 4.91 × 10⁻⁵, P = 6.46 × 10⁻⁵). In a second cohort (n = 98), only an association with the LP allele on ECA1 was replicated (P = 5.33 × 10⁻⁵). Modeling disease risk with LP, age and additional depigmentation factors (PATN1 genotype and extent of roaning) supports an additive role for LP and suggests an additive role for PATN1. Genotyping for LP and PATN1 may help predict ERU risk (AUC = 0.83). The functional role of LP and PATN1 in ERU development requires further investigation. Testing samples across breeds with leopard complex spotting patterns and a denser set of markers is warranted to further refine the genetic components of ERU.     

Genetic and environmental effects on the morphological asymmetry in the scale‐eating cichlid fish,Perissodus microlepis

The scale‐eating cichlid fish, Perissodus microlepis, from Lake Tanganyika are a well‐known example of an asymmetry dimorphism because the mouth/head is either left‐bending or right‐bending. However, how strongly its pronounced morphological laterality is affected by genetic and environmental factors remains unclear. Using quantitative assessments of mouth asymmetry, we investigated its origin by estimating narrow‐sense heritability (h²) using midparent–offspring regression. The heritability estimates [field estimate: h² = 0.22 ± 0.06, P = 0.013; laboratory estimate: h² = 0.18 ± 0.05, P = 0.004] suggest that although variation in laterality has some additive genetic component, it is strongly environmentally influenced. Family‐level association analyses of a putative microsatellite marker that was claimed to be linked to gene(s) for laterality revealed no association of this locus with laterality. Moreover, the observed phenotype frequencies in offspring from parents of different phenotype combinations were not consistent with a previously suggested single‐locus two‐allele model, but they neither were able to reject with confidence a random asymmetry model. These results reconcile the disputed mechanisms for this textbook case of mouth asymmetry where both genetic and environmental factors contribute to this remarkable case of morphological asymmetry.     

Production of acetic acid by Acetogenium kivui

Summary The formation of acetic acid by the thermophilic nonsporeforming homoacetogenic bacterium Acetogenium kivui was studied under various conditions. In pH-controlled batch fermentation at pH 6.4 this bacterium was able to produce up to 625 mM of acetic acid from glucose within 50–60 h. The value of _max obtained was about 0.17 h^-1, the yield was about 2.55 mol of acetic acid per mol of glucose utilized. In continuous fermentation both substrate concentration and dilution rate (D) influenced the yield of acetate and the stationary concentration: a glucose concentration of 67 mM at D=0.09 h^-1 resulted in 2.82 mol acetate/mol glucose and 190 mM acetate at a production rate of 17.1 mM/1 h. When the dilution rate was increased the production rate reached a maximal value of 43.2 mM/1 h at D=0.32 h^-1. At a glucose concentration of 195 mM the dependence of yield upon dilution rate followed a similar pattern and an acetate concentration of 420 mM could be obtained. Enzymatic studies indicate that in A. kivui pyruvate ferredoxin-oxidoreductase and acetate kinase are inhibited at acetate concentrations higher than 800 mM. Based on these results a fed-batch fermentation was developed, which allowed to produce more than 700 mM acetic acid within 40–50 h.Dedicated to Prof. Dr. H. J. Rehm on the occasion of his 60th birthday     

The consistency of quantitative genetic estimates in field and laboratory in the yellow dung fly

How consistent quantitative genetic estimates are across environments is unclear and under discussion. Heritability (h ²) estimates of hind tibia length (body size), development time and diapause induction in the yellow dung fly, Scathophaga stercoraria, generated with various methods in various environments are reported and compared. Estimates varied considerably within and among studies, but yielded good overall averages. The genetic correlations between the sexes for body size and development time were expectedly high (r(sex)=0.57–0.78) but clearly less than unity, implying independent evolution of both traits in males and females of this sexually dimorphic species. Genetic and environmental variance components increased in proportion at variable field relative to constant laboratory conditions, resulting in overall similar h ². Heritabilities for males and females were also similar, and h ² of the morphological trait hind tibia length was not necessarily greater than that of the two life history traits. Full-sib (broad-sense) estimates (h ²=0.7–1.1) were 2–3 times greater than half-sib and parent/offspring (narrow-sense) estimates (h ²=0–0.6). Common environment (i.e., among-container) variance averaged 38.3% (body size) and 16.8% (development time) of the broad-sense genetic variance in two laboratory studies. The broad-sense h ², therefore, may contain substantial amounts (12–50%) of dominance variance and/or variance due to maternal effects. A general conclusion emerging from this and similar studies appears to be that whether field and laboratory genetic estimates differ depends on the environment, trait and species under consideration.