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PubMed1982

Psychological aspects of genetic counseling. II: Quantitative analysis of a transcript of a genetic counseling session.

The Bales system of scoring small group interactions was used to analyze a transcript of a preamniocentesis (genetic) counseling session in which a husband (H), wife (W), and a male counselor (C) participated. Scoring required the subdivision of communication into the smallest meaningful and scorable units, assigning each unit one of twelve possible category scores and designating the initiator and intended recipient(s) of the unit. The categories included "positive" and "negative" reactions, questions and attempted answers. Over half the units were found to consist of interactions in which information, orientation, and clarification were provided. C initiated 54% of all units of which three-quarters consisted of factual information regarding amniocentesis, genetic risks, Down syndrome, and mental retardation. C interacted significantly more frequently with W than with H, but units directed toward H were significantly more positive than those toward W. One interaction, in which C responded to affective material, significantly altered the subsequent frequency and direction of units; H became more verbal and there was an increase in further affective expression. Although evidence of persuasion was present, no directiveness was demonstrated. The data show that quantitative study of genetic counseling is feasible. Further research on different counseling styles and on the influence of specific interventions on later outcome has been undertaken.

Genetic Counseling↗
PubMed1982

The locus coeruleus: a quantitative and genetic study in mice.

A fluorescence histochemical study of the pontine catecholaminergic (CA) neurons of two inbred strains of mice, BALB/c (C) and C57BL/6 (B6) and their F1 hybrids revealed that the total number of the fluorescent cells in the C strain was 38% lower than that of the B6 strain. In F1 hybrids, the total number of neurons was not statistically different from that of the B6 parent. During the development from birth to adulthood, the same quantitative differences between strains were observed.

Animals↗
PubMed2006

Phenotypic evolution of human craniofacial morphology after admixture: a geometric morphometrics approach.

An evolutionary, diachronic approach to the phenotypic craniofacial pattern arisen in a human population after high levels of admixture and gene flow was achieved by means of geometric morphometrics. Admixture has long been studied after molecular data. Nevertheless, few efforts have been made to explain the morphological outcome in human craniofacial samples. The Spanish-Amerindian contact can be considered a good scenario for such an analysis. Here we present a comparative analysis of craniofacial shape changes observed between two putative ancestor groups, Spanish and precontact Aztecs, and two diachronic admixed groups, corresponding to early and late colonial periods from the Mexico's Central Valley. Quantitative shape comparisons of Amerindian, Spanish, and admixed groups were used to test the expectations of quantitative genetics for admixture events. In its simplest form, this prediction states that an admixed group will present phenotypic values falling between those of both parental groups. Results show that, in general terms, although the human skull is a complex, integrated structure, the craniofacial morphology observed fits the theoretical expectations of quantitative genetics. Thus, it is predictive of population structure and history. In fact, results obtained after the craniofacial analysis are in accordance with previous molecular and historical interpretations, providing evidence that admixture is a main microevolutionary agent influencing modern Mexican gene pool. However, expectations are not straightforward when moderate shape changes are considered. Deviations detected at localized structures, such as the upper and lower face, highlight the evolution of a craniofacial pattern exclusively inherent to the admixed groups, indicating that quantitative characters might respond to admixture in a complicated, nondirectional way.

Biological Evolution↗
PubMed2006

Environmental coupling of selection and heritability limits evolution.

There has recently been great interest in applying theoretical quantitative genetic models to empirical studies of evolution in wild populations. However, while classical models assume environmental constancy, most natural populations exist in variable environments. Here, we applied a novel analytical technique to a long-term study of birthweight in wild sheep and examined, for the first time, how variation in environmental quality simultaneously influences the strength of natural selection and the genetic basis of trait variability. In addition to demonstrating that selection and genetic variance vary dramatically across environments, our results show that environmental heterogeneity induces a negative correlation between these two parameters. Harsh environmental conditions were associated with strong selection for increased birthweight but low genetic variance, and vice versa. Consequently, the potential for microevolution in this population is constrained by either a lack of heritable variation (in poor environments) or by a reduced strength of selection (in good environments). More generally, environmental dependence of this nature may act to limit rates of evolution, maintain genetic variance, and favour phenotypic stasis in many natural systems. Assumptions of environmental constancy are likely to be violated in natural systems, and failure to acknowledge this may generate highly misleading expectations for phenotypic microevolution.

Animals↗
PubMed1979

Some models of genetic selection.

This paper begins with a description of the classical theory of viability selection in which probabilities that individuals of various genotypes survive are in proportions that do not change with time and are independent of population structure. Salient features of viability selection with one and two loci are reviewed. This theory is intimately connected with the usual theory of mass selection in quantitative genetics. It is well known that the mean of the relative viabilities does not necessarily increase if there is viability selection at more than one locus. It also turns out that if there is selection for fecundity with one locus, the mean fecundity may steadily decrease or oscillate rather than increase. This and the fact that a Hardy-Weinberg structure may no longer exist at any stage of life may have a bearing on predicting progress from artificial selection on reproductive characters. Classical viability selection theory does not completely describe natural selection. Other possibilities are discussed. Among these is the density and frequency dependent selection induced when the population lives in a limited habitat. Implications in quantitative genetics are discussed.

Alleles↗
PubMed1997

Effects of genotype-by-sex interaction on quantitative trait linkage analysis.

Genotype-by-sex (G x S) interaction refers to the interaction of autosomal genes with male or female physiological "environments." G x S interaction has been demonstrated in quantitative genetic analysis of a variety of traits including serum lipid concentrations and anthropometrics, and the importance of considering sex-specific major gene effects in segregation analyses also has been demonstrated. The goal of this study was to examine the effects of G x S interaction on the power to detect linkage. Trait Q3 in GAW10 Problem 2 was analyzed because it was modeled to have G x S interaction at the major gene locus MG3. All 200 nuclear family and 200 extended pedigree replicates were first screened for the presence of G x S interaction in Q3 using a quantitative genetic method. More than half of both the nuclear family and extended pedigree replicates evidenced significant G x S interaction. Variance components linkage analysis was then performed using all markers on GAW10 chromosome 4 in all 200 nuclear family and 200 extended pedigree replicates. A peak lod score of 1.92 at the correct chromosomal location was obtained using the extended pedigree data and incorporating G x S interaction effects. Not incorporating G x S interaction lowered the peak lod score from the analyses of the extended pedigrees to 1.53. Incorporation of G x S interaction effects also increased the power to detect linkage in the nuclear family replicates, although the nuclear families had considerably less power than the extended pedigrees to detect linkage, whether or not G x S interaction was modeled. Incorporation of G x S interaction effects can increase the power to detect linkage, even when the G x S interaction effects are modest.

Environment↗
PubMed2005

Heritability of age at menarche in girls from the Fels Longitudinal Study.

Menarche is the hallmark maturational event of female childhood. Many studies indicated a significant genetic contribution to the timing of the onset of menstruation, but most of these studies were limited by the use of retrospective data and by the use of data from only certain types of relatives (i.e., mothers and daughters, sisters, or twin sisters). The primary goal of this study was to use a modern maximum likelihood quantitative genetic method to estimate the heritability (h(2)) of age at menarche, using familial data collected over the course of the 74-year-old Fels Longitudinal Study. The secondary goal was to review earlier studies of the heritability of age at menarche. The study of the heritability of age at menarche presented here is unique for two reasons. First, because of the Fels Longitudinal Study's serial design, age-at-menarche data were collected prospectively from most participants. Second, because the Fels Longitudinal Study is a family study that has been conducted for decades, age-at-menarche data are available from many types of female relatives spanning multiple households and generations. The best-fitting and most parsimonious quantitative genetic model included provision for a secular decrease in age at menarche, and estimated the h(2) of age at menarche to be 0.49+/- 0.13 (95% confidence interval of h(2),=0.24-0.73). The results of this study are in general agreement with the findings of most previous studies of genetic influences on age at menarche, and suggest that it is reasonable to consider it well-established that approximately half the phenotypic variation among girls from developed nations in the timing of menarche is due to genetic factors.

Adolescent↗
PubMed2007

Resolving the paradox of stasis: models with stabilizing selection explain evolutionary divergence on all timescales.

We tested the ability of six quantitative genetic models to explain the evolution of phenotypic means using an extensive database compiled by Gingerich. Our approach differs from past efforts in that we use explicit models of evolutionary process, with parameters estimated from contemporary populations, to analyze a large sample of divergence data on many different timescales. We show that one quantitative genetic model yields a good fit to data on phenotypic divergence across timescales ranging from a few generations to 10 million generations. The key feature of this model is a fitness optimum that moves within fixed limits. Conversely, a model of neutral evolution, models with a stationary optimum that undergoes Brownian or white noise motion, a model with a moving optimum, and a peak shift model all fail to account for the data on most or all timescales. We discuss our results within the framework of Simpson's concept of adaptive landscapes and zones. Our analysis suggests that the underlying process causing phenotypic stasis is adaptation to an optimum that moves within an adaptive zone with stable boundaries. We discuss the implication of our results for comparative studies and phylogeny inference based on phenotypic characters.

Animals↗
PubMed2002

Geometric estimates of heritability in biological shape.

The recently developed geometric morphometrics methods represent an important contribution of statistics and geometry to the study of biological shapes. We propose simple protocols using shape distances that incorporate geometric techniques into linear quantitative genetic models that should provide insights into the contribution of genetics to shape variation in organisms. The geometric approaches use Procrustes distances in a curved shape space and distances in tangent spaces within and among families to estimate shape heritability. We illustrate the protocols with an example of wing shape variation in the honeybee, Apis mellifera. The heritability of overall shape variation was small, but some localized components depicting shape changes on distal wing regions showed medium to large heritabilities. The genetic variance-covariance matrix of the geometric shape variables was significantly correlated with the phenotypic shape variance-covariance matrix. A comparison of the results of geometric methods with the traditional multivariate analysis of interlandmark distances indicated that even with a larger dimensionality, the interlandmark distances were not as rich in shape information as the landmark coordinates. Quantitative genetics studies of shape should greatly benefit from the application of geometric methods.

Animals↗
PubMed2004

Major genetic influence on the regulation of the pituitary-thyroid axis: a study of healthy Danish twins.

Intraindividual variation is smaller than the interindividual variation in serum TSH, free T(4), and free T(3) concentrations. This suggests that each individual may have a genetically determined thyroid function set-point. A representative sample of self-reported healthy twin pairs was identified through the Danish Twin Registry. A total of 284 monozygotic (MZ), 286 dizygotic same-sex (DZ), and 120 opposite-sex (OS) twin pairs were investigated. A classical twin study was performed. After adjustment for age, sex, and other covariates, the intraclass correlations of serum TSH, free T(4), and free T(3) were calculated. To elucidate the relative importance of hereditary and environmental factors on the variation of these hormone levels, quantitative genetic modeling was used. The intraclass correlations were consistently higher for MZ twin pairs than for DZ twin pairs. Regression analysis suggested that iodine intake played a small but significant role for the concentration of serum TSH and free T(4), whereas cigarette smoking was without influence. In quantitative genetic modeling, the heritability (with 95% confidence intervals) accounted for 64% (57-70%) of the variation in serum TSH concentration and 65% (58-71%) and 64% (57-70%), for the concentrations of free T(4) and free T(3), respectively. Genetic factors play a substantial role in controlling the pituitary-thyroid axis, indicating that each individual has a genetically determined thyroid function set-point. Whether this is of importance when treating individuals in whom pituitary-thyroid function has been disrupted by, e.g. hypo- or hyperthyroidism, remains to be clarified.

Adolescent↗
PubMed1999

The behaviors of some heritability estimators in the complete absence of genetic factors.

Heritability is an important concept in quantitative genetics and is widely used in human genetics. A high or even a moderate value of heritability estimate is usually taken as evidence for a genetic component for a quantitative trait. In this paper, the behaviors of some correlation-based heritability estimators are reexamined under the assumption of complete absence of any genetic factors. It turns out that when monozygotic (MZ) twins (or full sibs) are environmentally more similar than dizygotic twins (or half sibs), or when there is placement bias in MZ twins reared apart, those correlation-based heritability estimates can lead to nonnegligible or even high heritability values, even when genetic factors are completely absent. These alarming results suggest that extreme care should be exercised when using these heritability estimators.

Data Interpretation, Statistical↗
PubMed2006

Variation in anti-predator behavior among five strains of inbred guppies, Poecilia reticulata.

Quantitative genetic studies frequently utilize inbred strains of animals as tools for partitioning the direct and indirect effects of genes from environmental effects in generating an observed phenotype, however, this approach is rarely applied to behavioral studies. Guppies, Poecilia reticulata, perform a set of anti-predator behaviors that may provide an ideal system to study how complex behavioral traits are generated. To assess the utility of ornamental guppies in quantitative genetics studies of behavior, we assayed five morphologically distinct strains of ornamental guppies for response to predator cues and for variation in response among strains. Despite individual variation, all five strains responded to predator cues and differences among strains were found for all assayed behaviors, including measures of boldness and predator avoidance.

Animals↗
PubMed1998

Candidate quantitative trait loci and naturally occurring phenotypic variation for bristle number in Drosophila melanogaster: the Delta-Hairless gene region.

Delta (Dl) and Hairless (H) are two chromosome 3 candidate neurogenic loci that might contribute to naturally occurring quantitative variation for sensory bristle number. To evaluate this hypothesis, we assessed quantitative genetic variation in abdominal and sternopleural bristle numbers among homozygous isogenic third chromosomes sampled from nature and substituted into the Samarkand (Sam) inbred chromosome 1 and 2 background; among homozygous lines in which the wild-derived Dl-H gene region was introgressed into the Sam chromosome 3 background; and among Dl-H region introgression lines as heterozygotes against the Sam wild-type strain and derivatives of Sam into which mutant Dl and H alleles had been introgressed. Variation among the Dl-H region introgression lines accounted for 36% (8.3%) of the total chromosome 3 among line variance in abdominal (sternopleural) bristle number and for 53% of the chromosome 3 sex x line variance in abdominal bristle number. Naturally occurring alleles in the Dl-H region failed to complement a Dl mutant allele for female abdominal bristle number and sternopleural bristle number in both sexes, and an H mutant allele for both bristle traits in males and females. These results are consistent with the hypothesis that naturally occurring alleles at Dl and H contribute to quantitative genetic variation in sensory bristle number.

Analysis of Variance↗
PubMed2006

Maximum likelihood estimation of human craniometric heritabilities.

This study presents univariate narrow-sense heritability estimates for 33 common craniometric dimensions, calculated using the maximum likelihood variance components method on a skeletal sample of 298 pedigreed individuals from Hallstatt, Austria. Quantitative genetic studies that use skeletal cranial measurements as a basis for inferring microevolutionary processes in human populations usually employ heritability estimates to represent the genetic variance of the population. The heritabilities used are often problematic: most come from studies of living humans, and/or they were calculated using statistical techniques or assumptions violated by human groups. Most bilateral breadth measures in the current study show low heritability estimates, while cranial length and height measures have heritability values ranging between 0.102-0.729. There appear to be differences between the heritabilities calculated from crania and those from anthropometric studies of living humans, suggesting that the use of the latter in quantitative genetic models of skeletal data may be inappropriate. The univariate skeletal heritability estimates seem to group into distinct regions of the cranium, based on their relative values. The most salient group of measurements is for the midfacial/orbital region, with a number of measures showing heritabilities less than 0.30. Several possible reasons behind this pattern are examined. Given the fact that heritabilities calculated on one population should not be applied to others, suggestions are made for the use of the data presented.

Austria↗
PubMed2007

Multimodal pattern formation in phenotype distributions of sexual populations.

During bouts of evolutionary diversification, such as adaptive radiations, the emerging species cluster around different locations in phenotype space. How such multimodal patterns in phenotype space can emerge from a single ancestral species is a fundamental question in biology. Frequency-dependent competition is one potential mechanism for such pattern formation, as has previously been shown in models based on the theory of adaptive dynamics. Here, we demonstrate that also in models similar to those used in quantitative genetics, phenotype distributions can split into multiple modes under the force of frequency-dependent competition. In sexual populations, this requires assortative mating, and we show that the multimodal splitting of initially unimodal distributions occurs over a range of assortment parameters. In addition, assortative mating can be favoured evolutionarily even if it incurs costs, because it provides a means of alleviating the effects of frequency dependence. Our results reveal that models at both ends of the spectrum between essentially monomorphic (adaptive dynamics) and fully polymorphic (quantitative genetics) yield similar results. This underscores that frequency-dependent selection is a strong agent of pattern formation in phenotype distributions, potentially resulting in adaptive speciation.

Animals↗
PubMed1996

Vocalizations in newborn mice: genetic analysis.

Two kinds of vocalizations are produced by newborn mice: whistles (between 50 and 150 ms in length), having a narrow bandwidth in each strain that ranges from 30 to 90 kHz; and clicks, which are shorter (about 1 ms) and have a larger bandwidth. These vocalizations were individually recorded in 1-day-old pups from seven inbred strains of laboratory mice, at two temperatures (23 +/- 0.5 and 15 +/- 0.5 degrees C). The numbers of clicks and whistles were counted under these two conditions. Moreover, the length and frequencies at the beginning, apex, and end of the whistles were measured during the 15 degrees C condition. Correlations, including several components-additivity, epistasis (between homozygous loci), and maternal environment-were calculated between the characteristics of the whistles during the 15 degrees C condition. Clicks and whistles were also counted from 1 to 8 days of age during the 15 degrees C condition. The numbers of clicks and whistles were age dependent, with a decrease from day 1 to day 8 for the clicks and a consistent production of whistles. A quantitative genetic analysis was also performed on the 1-day-old pups from the Mendelian generations produced by the inbred strains most contrasting for the number of whistles produced in the cold condition: NZB/BINJ and CBA/H. The heterozygous genotype of the mother induced an increment of the number of whistles. Moreover, a significant part of the additive variance was suspected from the first design, and found with the second one, for this variable. Quantitative genetic analysis showed significant dominance and epistasis between homozygous loci and homozygous and heterozygous loci. This points to multigenic correlates for the number of whistles in this population. The significant additive values for all the variables recorded during the 15 +/- 0.5 degrees C condition and for the number of whistles produced during the 23 +/- 0.5 degrees C condition are compatible with an effect that indicates neither directional nor stabilizing selection. This result is examined in the light of the multichannel sensorial process implicated in maternal behavior in mice.

Animals↗
PubMed2005

Generalist genes and learning disabilities.

The authors reviewed recent quantitative genetic research on learning disabilities that led to the conclusion that genetic diagnoses differ from traditional diagnoses in that the effects of relevant genes are largely general rather than specific. This research suggests that most genes associated with common learning disabilities--language impairment, reading disability, and mathematics disability--are generalists in 3 ways. First, genes that affect common learning disabilities are largely the same genes responsible for normal variation in learning abilities. Second, genes that affect any aspect of a learning disability affect other aspects of the disability. Third, genes that affect one learning disability are also likely to affect other learning disabilities. These quantitative genetic findings have far-reaching implications for molecular genetics and neuroscience as well as psychology.

Humans↗
PubMed1996

Regulation by non-major histocompatibility complex genes of the allo-4-hydroxy-phenylpyruvate dioxygenase (F liver protein) response.

Although rapid progress is being made in the quantitative genetics of multifactorial disease, no response to a simple antigen has yet been subjected to full genomic analysis. The well-characterized antigen allo-HPPD (4-hydroxy-phenylpyruvate dioxygenase, previously known as F liver antigen) is a good candidate for such treatment. Old and new data bearing on this possibility are here assembled. In respect of antibody production and an early burst of interleukin-4 (IL-4) transcription, introduction of the non-major histocompatibility complex (MHC) background from A/J strain mice into F1 hybrids with C57BL10 strains up-regulates the response. These findings can be aligned with previous quantitative genetics carried out on airway hyper-responsiveness in related strains, and to a lesser extent with the genetics of autoimmune diabetes in the mouse. Taken together, the findings suggest that regulation of the pro-inflammatory cytokines are largely responsible for the variation. Additional data indicate that these non-MHC genes are are to a variable extent (depending on the response parameter) epistatic to the down-regulatory MHC allele H-2Ab.

4-Hydroxyphenylpyruvate Dioxygenase↗