scholarly journals The Molecular Basis of Quantitative Genetic Variation in Central and Secondary Metabolism in Arabidopsis

Genetics ◽  
1998 ◽  
Vol 149 (2) ◽  
pp. 739-747 ◽  
Author(s):  
Thomas Mitchell-Olds ◽  
Deana Pedersen

Abstract To find the genes controlling quantitative variation, we need model systems where functional information on physiology, development, and gene regulation can guide evolutionary inferences. We mapped quantitative trait loci (QTLs) influencing quantitative levels of enzyme activity in primary and secondary metabolism in Arabidopsis. All 10 enzymes showed highly significant quantitative genetic variation. Strong positive genetic correlations were found among activity levels of 5 glycolytic enzymes, PGI, PGM, GPD, FBP, and G6P, suggesting that enzymes with closely related metabolic functions are coregulated. Significant QTLs were found influencing activity of most enzymes. Some enzyme activity QTLs mapped very close to known enzyme-encoding loci (e.g., hexokinase, PGI, and PGM). A hexokinase QTL is attributable to cis-acting regulatory variation at the AtHXK1 locus or a closely linked regulatory locus, rather than polypeptide sequence differences. We also found a QTL on chromosome IV that may be a joint regulator of GPD, PGI, and G6P activity. In addition, a QTL affecting PGM activity maps within 700 kb of the PGM-encoding locus. This QTL is predicted to alter starch biosynthesis by 3.4%, corresponding with theoretical models, suggesting that QTLs reflect pleiotropic effects of mutant alleles.

2005 ◽  
Vol 360 (1459) ◽  
pp. 1411-1425 ◽  
Author(s):  
Toby Johnson ◽  
Nick Barton

Empirical studies of quantitative genetic variation have revealed robust patterns that are observed both across traits and across species. However, these patterns have no compelling explanation, and some of the observations even appear to be mutually incompatible. We review and extend a major class of theoretical models, ‘mutation–selection models’, that have been proposed to explain quantitative genetic variation. We also briefly review an alternative class of ‘balancing selection models’. We consider to what extent the models are compatible with the general observations, and argue that a key issue is understanding and modelling pleiotropy. We discuss some of the thorny issues that arise when formulating models that describe many traits simultaneously.


2018 ◽  
Author(s):  
Enoch Ng’oma ◽  
Wilton Fidelis ◽  
Kevin M. Middleton ◽  
Elizabeth G. King

AbstractThe nutritional conditions experienced by a population play a major role in shaping trait evolution in many taxa. Constraints exerted by nutrient limitation or nutrient imbalance can influence the maximal value that fitness components such as reproduction and lifespan attains, and organisms may shift how resources are allocated to different structures and functions in response to changes in nutrition. Whether the phenotypic changes associated with changes in nutrition represent an adaptive response is largely unknown. Further, it is unclear whether the response of fitness components to diet even has the potential to evolve in most systems. In this study, we use an admixed multiparental population of Drosophila melanogaster reared in three different diet conditions to estimate quantitative genetic parameters for lifespan and fecundity. We find significant genetic variation for both traits in our population and show that lifespan has moderate to high heritabilities within diets. Genetic correlations for lifespan between diets were significantly less than one, demonstrating a strong genotype by diet interaction. These findings demonstrate substantial standing genetic variation in our population that is comparable to natural populations and highlights the potential for adaptation to changing nutritional environments.


Genetics ◽  
1996 ◽  
Vol 144 (2) ◽  
pp. 727-735 ◽  
Author(s):  
Trudy F C Mackay ◽  
J Brant Hackett ◽  
Richard F Lyman ◽  
Marta L Wayne ◽  
Robert R H Anholt

Abstract Quantitative genetic variation in behavioral response to the odorant, benzaldehyde, was assessed among a sample of 43 X and 35 third chromosomes extracted from a natural population and substituted into a common inbred background. Significant genetic variation among chromosome lines was detected. Heritability estimates for olfactory response, however, were low, as is typical for traits under natural selection. Furthermore, the loci affecting naturally occurring variation in olfactory response to benzaldehyde were not the same in males and females, since the genetic correlation between the sexes was low and not significantly different from zero for the chromosome 3 lines. Competitive fitness, viability and fertility of the chromosome 3 lines were estimated using the balancer equilibrium technique. Genetic correlations between fitness and odor-guided behavior were not significantly different from zero, suggesting the number of loci causing variation in olfactory response is small relative to the number of loci causing variation in fitness. Since different genes affect variation in olfactory response in males and females, genetic variation for olfactory response could be maintained by genotype × sex environment interaction. This unusual genetic architecture implies that divergent evolutionary trajectories for olfactory behavior may occur in males and females.


Author(s):  
Bruce Walsh ◽  
Michael Lynch

One of the major unresolved issues in quantitative genetics is what accounts for the amount of standing genetic variation in traits. A wide range of models, all reviewed in this chapter, have been proposed, but none fit the data, either giving too much variation or too little apparent stabilizing selection.


Genetics ◽  
1980 ◽  
Vol 95 (3) ◽  
pp. 727-742 ◽  
Author(s):  
R Frankham ◽  
D A Briscoe ◽  
R K Nurthen

ABSTRACT Abdominal bristle selection lines (three high and three low) and controls were founded from a marked homozygous line to measure the contribution of sex-linked "mutations" to selection response. Two of the low lines exhibited a period of rapid response to selection in females, but not in males. There were corresponding changes in female variance, in heritabilities in females, in the sex ratio (a deficiency of females) and in fitness, as well as the appearance of a mutant phenotype in females of one line. All of these changes were due to bb alleles (partial deficiencies for the rRNA tandon) in the X chromosomes of these lines, while the Y chromosomes remained wild-type bb+. We argue that the bb alleles arose by unequal crossing over in the rRNA tandon.—A prediction of this hypothesis is that further changes can occur in the rRNA tandon as selection is continued. This has now been shown to occur.—Our minimum estimate of the rate of occurrence of changes at the rRNA tandon is 3 × 10-4. As this is substantially higher than conventional mutation rates, the questions of the mechanisms and rates of origin of new quantitative genetic variation require careful re-examination.


2021 ◽  
Vol 7 (2) ◽  
pp. 28
Author(s):  
Camille S. Corre ◽  
Dietrich Matern ◽  
Joan E. Pellegrino ◽  
Carlos A. Saavedra-Matiz ◽  
Joseph J. Orsini ◽  
...  

Krabbe disease (KD) is a rare inherited neurodegenerative disorder caused by a deficiency in galactocerebrosidase enzyme activity, which can present in early infancy, requiring an urgent referral for hematopoietic stem cell transplantation, or later in life. Newborn screening (NBS) for KD requires identification and risk-stratification of patients based on laboratory values to predict disease onset in early infancy or later in life. The biomarker psychosine plays a key role in NBS algorithms to ascertain probability of early-onset disease. This report describes a patient who was screened positive for KD in New York State, had a likely pathogenic genotype, and showed markedly reduced enzyme activity but surprisingly low psychosine levels. The patient ultimately developed KD in late infancy, an outcome not clearly predicted by existing NBS algorithms. It remains critical that psychosine levels be evaluated alongside genotype, enzyme activity levels, and the patient’s evolving clinical presentation, ideally in consultation with experts in KD, in order to guide diagnosis and plans for monitoring.


Genetics ◽  
2001 ◽  
Vol 157 (1) ◽  
pp. 283-294 ◽  
Author(s):  
Kristie Ashton ◽  
Ana Patricia Wagoner ◽  
Roland Carrillo ◽  
Greg Gibson

AbstractDrosophila melanogaster appears to be well suited as a model organism for quantitative pharmacogenetic analysis. A genome-wide deficiency screen for haploinsufficient effects on prepupal heart rate identified nine regions of the genome that significantly reduce (five deficiencies) or increase (four deficiencies) heart rate across a range of genetic backgrounds. Candidate genes include several neurotransmitter receptor loci, particularly monoamine receptors, consistent with results of prior pharmacological manipulations of heart rate, as well as genes associated with paralytic phenotypes. Significant genetic variation is also shown to exist for a suite of four autonomic behaviors that are exhibited spontaneously upon decapitation, namely, grooming, grasping, righting, and quivering. Overall activity levels are increased by application of particular concentrations of the drugs octopamine and nicotine, but due to high environmental variance both within and among replicate vials, the significance of genetic variation among wild-type lines for response to the drugs is difficult to establish. An interval mapping design was also used to map two or three QTL for each behavioral trait in a set of recombinant inbred lines derived from the laboratory stocks Oregon-R and 2b.


2020 ◽  
Author(s):  
Edwin Lauer ◽  
Andrew Sims ◽  
Steven McKeand ◽  
Fikret Isik

Abstract Genetic parameters were estimated using a five-series multienvironment trial of Pinus taeda L. in the southern USA. There were 324 half-sib families planted in five test series across 37 locations. A set of six variance/covariance matrices for the genotype-by-environment (G × E) effect for tree height and diameter were compared on the basis of model fit. In single-series analysis, extended factor analytical models provided generally superior model fit to simpler models for both traits; however, in the combined-series analysis, diameter was optimally modeled using simpler variance/covariance structures. A three-way compound term for modeling G × E interactions among and within series yielded substantial improvements in terms of model fit and standard errors of predictions. Heritability of family means ranged between 0.63 and 0.90 for both height and diameter. Average additive genetic correlations among sites were 0.70 and 0.61 for height and diameter, respectively, suggesting the presence of some G × E interaction. Pairs of sites with the lowest additive genetic correlations were located at opposite ends of the latitude range. Latent factor regression revealed a small number of parents with large factor scores that changed ranks significantly between southern and northern environments. Study Implications Multienvironmental progeny tests of loblolly pine (Pinus taeda L.) were established over 10 years in the southern United States to understand the genetic variation for the traits of economic importance. There was substantial genetic variation between open-pollinated families, suggesting that family selection would be efficient in the breeding program. Genotype-by-environment interactions were negligible among sites in the deployment region but became larger between sites at the extremes of the distribution. The data from these trials are invaluable in informing the breeding program about the genetic merit of selection candidates and their potential interaction with the environment. These results can be used to guide deployment decisions in the southern USA, helping landowners match germplasm with geography to achieve optimal financial returns and conservation outcomes.


1958 ◽  
Vol 233 (3) ◽  
pp. 634-636 ◽  
Author(s):  
Irving Lieberman ◽  
Peter Ove

Sign in / Sign up

Export Citation Format

Share Document