scholarly journals Pleiotropy and multilocus polymorphisms.

Genetics ◽  
1992 ◽  
Vol 130 (1) ◽  
pp. 223-227
Author(s):  
A Gimelfarb

Abstract It is demonstrated that systems of two pleiotropically related characters controlled by additive diallelic loci can maintain under Gaussian stabilizing selection a stable polymorphism in more than two loci. It is also shown that such systems may have multiple stable polymorphic equilibria. Stabilizing selection generates negative linkage disequilibrium, as a result of which the equilibrium phenotypic variances are quite low, even though the level of allelic polymorphisms can be very high. Consequently, large amounts of additive genetic variation can be hidden in populations at equilibrium under stabilizing selection on pleiotropically related characters.

Author(s):  
Bruce Walsh ◽  
Michael Lynch

This chapter examines models of one- and two-locus selection in the absence of drift and mutation. Expressions for the per-generation rate of allele-frequency change and the expected time for a specified amount of change are developed for single-locus models, and their equilibrium structure is examined for those settings where selection retains more than one allele. The presence of selection-generated linkage disequilibrium greatly complicates the extension of single-locus results to two loci, and the chapter examines some of the resulting complications. Finally, it examines the nature of selection on a locus that underlies a trait under selection, and then uses this to develop the breeder's equation for the single-generation response in a trait under selection. One important result is that the loci for a trait under stabilizing selection experience fitness underdominance, and thus trait selection removes, rather than retains, genetic variation.


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.


1992 ◽  
Vol 6 ◽  
pp. 292-292
Author(s):  
Robert Titus

Species populations commonly carry a great deal of genetic variation which is not expressed in individual phenotypes. Cryptic variation can be carried in recessive alleles, in cases of heterosis, or where modifier genes inhibit expression of the hidden trait. Other genetic and ecological factors also allow cryptic variation. Stabilizing selection prevents the expression of hidden traits; normalizing selection weeds out the deviants and canalizing selection suppresses their traits. Together the two keep the species near the top of the adaptive peak. Cryptic variation balances a species' need to be well-adapted to its environment and also for it to maintain a reserve of variation for potential environmental change. Expression of cryptic traits is rare and is usually associated with times of greatly reduced natural selection and rapid population growth, when the lower slopes of the adaptive peak are exposed.A possible example of the manifestation of cryptic traits occurs within the lower Trentonian Rafinesquina lineage of New York State. The two most commonly reported species of the genus have been reappraised in terms of cryptic variation. Extensive collections of Rafinesquina “lennoxensis” reveal far more intergrading morphotypes than had hitherto been recognized. The form which Salmon (1942) described is broadly U-shaped with sulcate margins. It grades into very convex forms as well as sharply-defined or convexly geniculate types. Of great importance, all forms grade into the flat, U-shaped, alate R. trentonensis, which is, by far, the most common and widespread lower Trentonian member of the genus. The R. “lennoxensis” assemblage has a very narrow biostratigraphy, being confined to a few locations in the upper Napanee Limestone. This places it in a quiet, protected, low stress, lagoonal setting behind the barrier shoal facies of the Kings Falls Limestone.The R. “lennoxensis” assemblage does not constitute a natural biologic species; it is reinterpreted as an assemblage of phenodeviants occupying a low stress, low natural selection lagoon facies. All such forms should be included within R. trentonensis. Given the evolutionary plasticity of this genus, extensive cryptic variation is not surprising.


2021 ◽  
Author(s):  
Daniel J. Cotter ◽  
Timothy H. Webster ◽  
Melissa A. Wilson

AbstractMutation, recombination, selection, and demography affect genetic variation across the genome. Increased mutation and recombination both lead to increases in genetic diversity in a region-specific manner, while complex demographic patterns shape patterns of diversity on a more global scale. The X chromosome is particularly interesting because it contains several distinct regions that are subject to different combinations and strengths of these processes, notably the pseudoautosomal regions (PARs) and the X-transposed region (XTR). The X chromosome thus can serve as a unique model for studying how genetic and demographic forces act in different contexts to shape patterns of observed variation. Here we investigate diversity, divergence, and linkage disequilibrium in each region of the X chromosome using genomic data from 26 human populations. We find that both diversity and substitution rate are consistently elevated in PAR1 and the XTR compared to the rest of the X chromosome. In contrast, linkage disequilibrium is lowest in PAR1 and highest on the non-recombining X chromosome, with the XTR falling in between, suggesting that the XTR (usually included in the non-recombining X) may need to be considered separately in future studies. We also observed strong population-specific effects on genetic diversity; not only does genetic variation differ on the X and autosomes among populations, but the effects of linked selection on the X relative to autosomes have been shaped by population-specific history. The substantial variation in patterns of variation across these regions provides insight into the unique evolutionary history contained within the X chromosome.Significance StatementDemography and selection affect the X chromosome differently from non-sex chromosomes. However, the X chromosome can be subdivided into multiple distinct regions that facilitate even more fine-scaled assessment of these processes. Here we study regions of the human X chromosome in 26 populations to find evidence that recombination may be mutagenic in humans and that the X-transposed region may undergo recombination. Further we observe that the effects of selection and demography act differently on the X chromosome relative to the autosomes across human populations. Together, our results highlight profound regional differences across the X chromosome, simultaneously making it an ideal system for exploring the action of evolutionary forces as well as necessitating its careful consideration and treatment in genomic analyses.


BMC Genomics ◽  
2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Noah DeWitt ◽  
Mohammed Guedira ◽  
Edwin Lauer ◽  
J. Paul Murphy ◽  
David Marshall ◽  
...  

Abstract Background Genetic variation in growth over the course of the season is a major source of grain yield variation in wheat, and for this reason variants controlling heading date and plant height are among the best-characterized in wheat genetics. While the major variants for these traits have been cloned, the importance of these variants in contributing to genetic variation for plant growth over time is not fully understood. Here we develop a biparental population segregating for major variants for both plant height and flowering time to characterize the genetic architecture of the traits and identify additional novel QTL. Results We find that additive genetic variation for both traits is almost entirely associated with major and moderate-effect QTL, including four novel heading date QTL and four novel plant height QTL. FT2 and Vrn-A3 are proposed as candidate genes underlying QTL on chromosomes 3A and 7A, while Rht8 is mapped to chromosome 2D. These mapped QTL also underlie genetic variation in a longitudinal analysis of plant growth over time. The oligogenic architecture of these traits is further demonstrated by the superior trait prediction accuracy of QTL-based prediction models compared to polygenic genomic selection models. Conclusions In a population constructed from two modern wheat cultivars adapted to the southeast U.S., almost all additive genetic variation in plant growth traits is associated with known major variants or novel moderate-effect QTL. Major transgressive segregation was observed in this population despite the similar plant height and heading date characters of the parental lines. This segregation is being driven primarily by a small number of mapped QTL, instead of by many small-effect, undetected QTL. As most breeding populations in the southeast U.S. segregate for known QTL for these traits, genetic variation in plant height and heading date in these populations likely emerges from similar combinations of major and moderate effect QTL. We can make more accurate and cost-effective prediction models by targeted genotyping of key SNPs.


2009 ◽  
Vol 5 (6) ◽  
pp. 784-787 ◽  
Author(s):  
Camille Bonneaud ◽  
Janet S. Sinsheimer ◽  
Murielle Richard ◽  
Olivier Chastel ◽  
Gabriele Sorci

Genetic estimates of the variability of immune responses are rarely examined in natural populations because of confounding environmental effects. As a result, and because of the difficulty of pinpointing the genetic determinants of immunity, no study has to our knowledge examined the contribution of specific genes to the heritability of an immune response in wild populations. We cross-fostered nestling house sparrows to disrupt the association between genetic and environmental effects and determine the heritability of the response to a classic immunological test, the phytohaemagglutinin (PHA)-induced skin swelling. We detected significant heritability estimates of the response to PHA, of body mass and tarsus length when nestlings were 5 and 10 days old. Variation at Mhc genes, however, did not explain a significant portion of the genetic variation of nestling swelling to PHA. Our results suggest that while PHA-induced swelling is influenced by the nest of origin, the importance of additive genetic variation relative to non-additive genetic variation and the genetic factors that influence the former in wild populations still need to be identified for this trait.


2017 ◽  
Vol 24 (1) ◽  
pp. 132-144 ◽  
Author(s):  
Leslie A. Brick ◽  
Matthew C. Keller ◽  
Valerie S. Knopik ◽  
John E. McGeary ◽  
Rohan H.C. Palmer

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