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The degree to which genetic variation in a given trait varies among different populations of the same species and across different environments has seldom been quantified in wild vertebrate species. We investigated the expression of genetic variability and maternal effects in three larval life-history traits of the amphibian Rana temporaria. In a factorial laboratory experiment, five widely separated populations (max. 1600 km) were subjected to two different environmental treatments. Animal model analyses revealed that all traits were heritable (h2≈0·20) in all populations and under most treatment combinations. Although the cross-food treatment genetic correlations were close to unity, heritabilities under a restricted food regime tended to be lower than those under an ad libitum food regime. Likewise, maternal effects (m2≈0·05) were detected in most traits, and they tended to be most pronounced under restricted food conditions. We detected several cross-temperature genetic and maternal effects correlations that were lower than unity, suggesting that genotype–environment interactions and maternal effect–environment interactions are a significant source of phenotypic variation. The results reinforce the perspective that although the expression of genetic and maternal effects may be relatively homogeneous across different populations of the same species, local variation in environmental conditions can lead to significant variation in phenotypic expression of quantitative traits through genotype–environment and maternal effect–environment interactions.
Haplotype inference has become an important part of human genetic data analysis due to its functional and statistical advantages over the single-locus approach in linkage disequilibrium mapping. Different statistical methods have been proposed for detecting haplotype – disease associations using unphased multi-locus genotype data, ranging from the early approach by the simple gene-counting method to the recent work using the generalized linear model. However, these methods are either confined to case – control design or unable to yield unbiased point and interval estimates of haplotype effects. Based on the popular logistic regression model, we present a new approach for haplotype association analysis of human disease traits. Using haplotype-based parameterization, our model infers the effects of specific haplotypes (point estimation) and constructs confidence interval for the risks of haplotypes (interval estimation). Based on the estimated parameters, the model calculates haplotype frequency conditional on the trait value for both discrete and continuous traits. Moreover, our model provides an overall significance level for the association between the disease trait and a group or all of the haplotypes. Featured by the direct maximization in haplotype estimation, our method also facilitates a computer simulation approach for correcting the significance level of individual haplotype to adjust for multiple testing. We show, by applying the model to an empirical data set, that our method based on the well-known logistic regression model is a useful tool for haplotype association analysis of human disease traits.
The ancestral karyotype of the house mouse (Mus musculus) consists of 40 acrocentric chromosomes, but numerous races exist within the domesticus subspecies characterized by different metacentric chromosomes formed by the joining at the centromere of two acrocentrics. An exemplary case is present on the island of Madeira where six highly divergent chromosomal races have accumulated different combinations of 20 metacentrics in 500–1000 years. Chromosomal cladistic phylogenies were performed to test the relative performance of Robertsonian (Rb) fusions, Rb fissions and whole-arm reciprocal translocations (WARTs) in resolving relationships between the chromosomal races. The different trees yielded roughly similar topologies, but varied in the number of steps and branch support. The analyses using Rb fusions/fissions as characters resulted in poorly supported trees requiring six to eight homoplasious events. Allowance for WARTs considerably increased nodal support and yielded the most parsimonious trees since homoplasy was reduced to a single event. The WART-based trees required five to nine WARTs and 12 to 16 Rb fusions. These analyses provide support for the role of WARTs in generating the extensive chromosomal diversification observed in house mice. The repeated occurrence of Rb fusions and WARTs highlights the contribution of centromere-related rearrangements to accelerated rates of chromosomal change in the house mouse.
What is heritability? The heritability of a trait in a given population tells us what proportion of differences in that trait is due to genetic differences. It provides an answer to the main question in the nature–nurture controversy.
Heritability can be calculated both for physical and psychological characteristics but it generates controversy mainly in the context of human behavioral traits like intelligence, personality differences, criminality, etc. For this reason I will focus here only on discussions of heritability in psychology (i.e., human behavior genetics). Criticisms of heritability claims in this area are frequently based on a curious mixture of methodological objections and warnings about political motives and/or implications of this research. A systematic study that would try to disentangle all the argumentative threads that are often run together in this contentious debate was long overdue. So this book was simply waiting to be written.
I was introduced to the nature–nurture debate by reading Ned Block and Gerald Dworkin's well-known and widely cited anthology about the IQ controversy (Block & Dworkin 1976a). This collection of articles has long been the main source of information about the heredity–environment problem for a great number of scientists, philosophers, and other academics. It is not an exaggeration to say that the book has been the major influence on thinking about this question for many years.
I ask myself whether the untruth is not better for American society than the truth.
Nathan Glazer
Men have ratiocination, whereby to multiply one untruth by another.
Thomas Hobbes
A book on heritability without a chapter on political issues would be a bit like Hamlet without the ghost of Hamlet's father. Even when the ghost of politics is not addressed at all, it always lurks in the background, haunting the protagonists and influencing both the tone and dynamics of the heritability controversy.
But why not exorcise the ghost from the debate once and for all? For, if we want to understand heritability as a scientific concept, is it not advisable to isolate it from vagaries of political storms that only create confusion, distrust, and anger? There are two problems with this idea. First, since in the discussions about heritability, politics has occupied center stage so forcefully and for so long, we can hardly make sense of what went on if we neglect such an important element in the story, however irrelevant it may “objectively” be for the issue at hand. And second, before looking into these matters more carefully, we cannot actually be sure that heritability research is indeed devoid of political implications, as many people keep telling us.
A good way to start this chapter is to consider two frequently used arguments to cross the barrier between science and politics: first, the claim that a scientific belief is mistaken because it is politically motivated, and second, the claim that a scientific belief is politically motivated because it is mistaken.
No aspect of human behavior genetics has caused more confusion and generated more obscurantism than the analysis and interpretation of the various types of non-additivity and non-independence of gene and environmental action and interaction.
Lindon J. Eaves
TWO CONCEPTS OF INTERACTION
A widespread conviction that heritability claims are devoid of almost any interesting explanatory content is often based on an argument that genes and environments interact, and that for this reason their causal contributions to phenotype cannot be separated and measured independently. An immediate problem with this argument is that there are two very different meanings of “interaction”: commonsense and statistical. According to the commonsense notion (interactionc), to say that two causes A and B interact means that neither can produce the effect without the presence of the other. To use a standard example, striking a match and the presence of oxygen interact to produce fire. According to the statistical notion (interactions), however, to say that two variables A and B interact means that a change in one variable does not always have an effect of the same magnitude: its effect varies, depending on the value of the other variable. For instance, the very same life event, such as parental divorce, may affect children with different personality characteristics quite differently.
Already a half a century ago Waddington proposed that, in order to avoid confusion, the term “gene-environment interaction” should be reserved for the statistical concept:
This expression [gene-environment interaction] is derived from statistical terminology and, as this example makes clear, is used in a much more restricted sense than might appear at first sight. […]
Enough of arguments of principle. In this case [the black–white difference in IQ], above all, they should be treated with grave suspicion. If it is easy enough to select data to suit one's prejudices, how much easier will it be to choose the arguments of principle which prove or disprove on a priori grounds that which one wished to conclude on other grounds?
N. J. Mackintosh
The main source of political nervousness in discussions about heritability is its possible implications for race differences. John Searle echoed a widespread view: “once you believe that there are innate human mental structures it is only a short step to argue that the innate mental structures differ from one race to another” (Searle 1976).
The fact that the step from individual heritability to group heritability is perceived as “short” may explain the occasionally acrimonious opposition to claims about individual heritability: better to stop the inference at an early stage than to find oneself in the position where later, after conceding too much, one no longer has a good strategy to resist the abominable conclusion. But whatever resistance could be expected at the level of general discussions about heritability, the situation dramatically changes when race differences are addressed explicitly. Linda Gottfredson conveys the mood well: “One can feel the gradient of collective alarm and disapproval like a deepening chill as one approaches the forbidden area” (Gottfredson 1994: 56).
The most alarming hypothesis, of course, is the explosive mix of three ideas: race, IQ, and heritability.
Unless you are willing simply to deny that causality is a meaningful concept then you will need some way of studying causal relationships when randomized experiments cannot be performed. Maintain your skepticism if you wish, but grant me the benefit of your doubt. A healthy skepticism while in a car dealership will keep you from buying a “lemon.” An unhealthy skepticism might prevent you from obtaining a reliable means of transport.
Bill Shipley
The fact that organisms with genotype G1 may have phenotype P1 more often than organisms with genotype G2 is not necessarily a good indication that a G-difference is directly responsible for a P-difference. It may well be that (for whatever reason) G1 organisms simply find themselves more frequently in environment E1 than G2 organisms, and that it is E1 which causally leads to phenotype P1 (while E2 produces P2). This phenomenon is called “genotype–environment correlation.” It has been extensively discussed in the behavior genetics literature, but it has also been widely used in methodological criticisms of heritability.
The expression “genotype–environment correlation” usually refers to the situations where two separate sources of phenotypic variance (genetic and environmental) happen to be correlated. Sometimes, however, it is interpreted more broadly to cover also the cases where there is a correlation between a genetic and environmental characteristic, even when the genetic characteristic is not directly influencing the phenotype.
The nature-nurture problem is nevertheless far from meaningless. Asking right questions is, in science, often a large step toward obtaining the right answer.
Theodosius Dobzhansky
A CONVENIENT JINGLE OF WORDS
Heritability is basically a measure of the strength of genetic influence on phenotypic differences. The emphasis is on the word “differences.” It was Francis Galton who initiated a systematic study of human variation in the nineteenth century. He chided statisticians of his time for being only interested in the mean values and never in differences:
It is difficult to understand why statisticians commonly limit their inquiries to Averages and do not revel in more comprehensive views. Their souls seem as dull to the charm of variety as that of the native of one of our flat English counties, whose retrospect of Switzerland was that, if its mountains could be thrown into its lakes, two nuisances would be got rid of at once.
(Galton1889: 62)
Heritability is usually defined as the proportion of phenotypic variation that is due to genetic differences. So giving a particular value to a heritability estimate of a given trait is solving the nature-nurture equation in that specific context. There is no general answer to the nature-nurture question. As J. B. S. Haldane said: “The important point is to realize that the question of the relative importance of nature and nurture has no general answer, but that it has a very large number of particular answers” (Haldane1938: 34). Dobzhansky concurs: “There is not one nature-nurture problem but many” (Dobzhansky1956: 21).
Best-selling novels rarely have unhappy endings; similarly, books about genetics and social science usually close with some kind of sugarcoating about how biological traits are not really determined, or how a heritable trait is malleable.
David C. Rowe
It is not true that everyone can reach the same academic standards if provided with adequate opportunity, and the heritability of IQ is a partial measure of that untruth.
John Thoday
GENETIC AND ENVIRONMENTAL CAUSATION
Can phenotypic differences arising from genetic differences be eliminated as easily as environmentally caused differences? Those who answer this question in the affirmative like to point out that being caused by genes does not entail being unchangeable, fixed, or predestined. This trivial truth is easily granted. But after we concede that, indeed, “heritable” does not mean “unchangeable,” there is a temptation to make another step from this truism to a much stronger claim, namely that there is no difference at all between the ways genetic and environmental effects are modifiable. This is a step from truth to falsity.
Let us begin with quotations from Jencks, Dawkins, and Lewontin, which make the same point and initially sound very plausible:
Most of us assume that it is harder to offset the effects of genetic disadvantages than environmental disadvantages. Because our genes are essentially immutable, we assume that their consequences are immutable too. Because the environment is mutable, we assume that its effects are equally mutable. But there is no necessary relationship between the mutability of causes and the mutability of their effects.
A great deal of intelligence can be invested in ignorance when the need for illusion is deep.
Saul Bellow
At the end of this book many a reader may feel that my approach should have been more balanced. Even if I am right in pointing out many weaknesses of environmentalist criticisms of heritability, doesn't fair scholarship require that problematic aspects of hereditarianism be addressed as well? Surely, bad arguments cannot be a “privilege” of one side in the debate.
In my defense, let me remind you that my goal was not to offer a comprehensive discussion of the nature–nurture problem. I focused just on a small segment of that controversy. As a philosopher of science, I found it interesting to scrutinize very general methodological arguments that are often used to short-circuit the debate in the attempt to undermine one of the rival positions, without going into empirical details at all. And precisely here is the source of the disparity. It is only environmentalists who want to use this kind of methodological shortcut. Hereditarians are quite happy to let the empirical evidence decide the matter. So the imbalance of my approach is the result of an existing asymmetry, not of my partiality.
Whereas methodological arguments purported to prove that heritability claims are meaningless, confusing, or causally uninterpretable, a completely opposite criticism is that they are trivial.
There is increasing evidence that closely related species contain many polymorphisms that were present in their common ancestral species. Use of a more distant relative as an outgroup increases the ability to detect such ancestral polymorphisms. We describe a method for further improving estimates of the fraction of polymorphisms that are ancestral, and illustrate this with reference to data on Drosophila pseudoobscura and D. miranda. We also derive formulae for the proportion of fixations arising from ancestral polymorphisms and new mutations, respectively. The results should be useful for tests of selection based on the levels of expected and observed ancestral polymorphisms.
We have isolated the clock gene period (per) from the medfly Ceratitis capitata, one of the most economically important insect pest species. The overall pattern of conserved, non-conserved and functional domains that are observed within dipteran and lepidopteran per orthologues is preserved within the coding sequence. Expression analysis from fly heads revealed a daily oscillation in per mRNA in both light[ratio ]dark cycles and in constant darkness. However PER protein levels from head extracts did not show any significant evidence for cycling in either of these two conditions. When the Ceratitis per transgene under the control of the Drosophila per promoter and 3′UTR was introduced into Drosophila per-null mutant hosts, the transformants revealed a low level of rescue of behavioural rhythmicity. Nevertheless, the behaviour of the rhythmic transformants showed some similarities to that of Ceratitis, suggesting that Ceratitis per carries species-specific information that can evidently affect the Drosophila host's downstream rhythmic behaviour.