Review of thirty years study of Hiroshima and Nagasaki atomic bomb survivors. II. Biological effects. B. Genetic effects. 1. Early genetic surveys and mortality study.
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Adolescent↗
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Review of thirty years study of Hiroshima and Nagasaki atomic bomb survivors. II. Biological effects. B. Genetic effects. 2. Cytogenetic study.
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Adult↗
[Genetic effects of induced in populations by the radioactive nuclear fission products of 235U. II. Prognostication of the genetic effectiveness of irradiation at low dose rates].
Experiments have been carried out on Chlorella, beans, wheat and developing loach eggs to study the dose-response relationship (dose-function of dose rate) with 90Sr, 90Y and 147Pm as the sources of beta-radiation. The yield of point mutations in Chlorella under 147Pm and that of chromosome aberrations in cells of bean roof and apical meristem tissue as well as in meiosis of wheat and bean cells irradiated by 90Sr- 90Y is proved to show degree dependence at a dose less than 1. It means that the dose which doubles the number of induced mutations is not constant and depends on the dose rate. Reverse relationship is shown between dose intensity and genetic effect per dose unit. The decrease in the yield of genetic damages in the range of dose rates analysed is supposed to be due to repair activation induced by ionizing radiations. In view of these results, consideration is given to the role of the level of spontaneous mutagenesis in estimation of the resolution of test systems. An increase in the level of the spontaneous mutational process is shown to increase the size of population samples which are ment, when analysed, to reveal statistically significant differences between the effect observed and the level of spontaneous mutagenesis. The possibility of application of the experimental results to the prediction of effects of ionizing radiations on natural animal and plant populations is considered.
Animals↗
Influence of selection, non-uniform cell population and repair on dose-effect curves of genetic effects.
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Cells↗
Increased cancer risk as a genetic effect of ionizing radiation.
The well known genetic effects of ionizing radiation include severe developmental disorders in the progeny of irradiated parents resulting in embryonic death, stillbirth and early postnatal mortality, congenital abnormalities, malformations and fertility disturbances in live-born organisms. These effects are considered to be due to gross mutations (genomic, chromosomal and those of essential genes). Physiological inferiority and an increased cancer risk in phenotypically normal offspring of irradiated parents appear to be two further types of genetic effect of radiation. The genetic background of these effects is suggested to be induced recessive polygene mutations and regulatory DNA alterations, which may lead to instability of the hereditary apparatus of cells, activation of protooncogenes and other inducible processes. A comparison of somatic and genetic effects of radiation shows certain similarities, not only in phenomenology, but probably also in pathogenetic mechanisms.
Animals↗
Analysis of genetic and environmental sources of variation in serum cholesterol in Tecumseh, Michigan. III. Identification of genetic effects using 12 polymorphic genetic blood marker systems.
Four of 12 unlinked polymorphic marker systems were identified as predictors of normal serum cholesterol levels. Consistent effects between males and females and with other studies suggest that these marker loci are themselves involved in cholesterol determination or are closely linked to the involved loci. Two-locus combinations suggest that an 8-9 mg/100 ml difference in nonfasting serum cholesterol may be predicted between phenotypic classes which are not rare in frequency.
Blood Group Antigens↗
Selection for the direct and maternal genetic effects for dystocia in Holsteins.
The effects of selection for the direct and maternal components of dystocia were estimated for first, second and later, and all parities. The effect of restricting maternal change to zero and the effect of selection for only the direct component were also examined. Gene flow procedure was used to compute economic weights as 1 and .347 for the direct and maternal effects, respectively. Genetic gain in aggregate genotype was the largest for first parity. For all parities all the gain in the aggregate genotype was accounted for by the direct effects. At the same time, a slight decrease in the genetic maternal effects was observed. For all cases, selection for both traits had almost no loss in aggregate genotype or accuracy compared with when maternal changes were restricted to zero. Total genetic gain and genetic gain for the direct effect of dystocia were greater and accuracy of selection was lower when selection was for the genetic direct effect only versus the index that included both direct and maternal effects. Selection for only the direct effects is not likely to produce any significant change in dystocia as a maternal trait.
Animals↗
Separating direct, indirect and parent-of-origin genetic effects in the human population.
Here, we present a novel approach to estimate the degree to which the phenotypic effect of a DNA locus is attributable to four components: alleles in the child (direct genetic effects), alleles in the mother and the father (indirect genetic effects), or is dependent upon the parent from which it is inherited (parent-of-origin, PofO effects). Applying our model, JODIE, to 30,000 child-mother-father trios with phased DNA information from the Estonian Biobank (EstBB) and the Norwegian Mother, Father, Child Cohort (MoBa), we jointly estimate the phenotypic variance attributable to these four effects unbiased of assortative mating (AM) for height, body mass index (BMI) and childhood educational test score (EA). For all three traits, direct effects make the largest contribution to the genetic effect variance. But we find that parental indirect genetic effects make an equivalent combined contribution, and that there is a non-zero PofO effect variance for all traits. We calculate the heritability that would be obtained at the population-level in the absence of AM for common DNA loci, and show that the proportional contribution of direct effects to these heritability values can be calculated as 64.0% for EA in MoBa, 77.1% and 63.4% for height in MoBa and EstBB, and 81.2% and 88.0% for BMI in MoBa and EstBB. Additionally, using within-family genome-wide association testing, we identify 276 independently associated DNA regions that replicate across two additional biobanks, which all show a genotype-phenotype relationship that reflects an interplay of direct, indirect and PofO effects. Determining how direct, parental and PofO genetic effects combine across loci genome-wide to influence human phenotypic variation requires joint modeling of parental and child genotypes alongside the parental origin of loci and here, we make the first attempt to do this in the human population.
EstBB↗
Direct genetic and postnatal maternal genetic effects on body composition in mice selected for body weight.
Line crossfostering techniques were used to study differences among selected and control lines of mice in direct genetic and postnatal maternal genetic influences on preweaning (day 12) body weight and composition. The lines were selected for high (H6) and low (L6) 6-week body weight and the control line (C2) was maintained by random selection. There were positive correlated responses to selection in both direct genetic and postnatal maternal genetic effects on body weight and weights of all body components (P less than 0.01) except for water and ash weight in H6. The correlated responses in postnatal maternal genetic effects were of the same order of magnitude as those in direct genetic effects. Correlated responses were greater in L6 than in H6. Correlated responses in direct genetic effects were positive (P less than 0.01) for water percent in H6 and ether extract percent in L6, and negative (P less than 0.01) for water percent and lean percent in L6. Correlated responses in postnatal maternal genetic effects were positive for ether extract percent and negative for water percent (P less than 0.01). Correlated responses were far greater in L6 than in H6 and were greater for postnatal maternal genetic effects than for direct genetic effects. Analyses of covariance results indicated line differences in the relative growth rates of the body components.
Analysis of Variance↗
Direct and maternal genetic effects due to the introduction of Bos taurus alleles into Brahman cattle in Florida: II. Preweaning growth traits.
Records of birth weight (BW), weaning weight (WW) and condition score (CS) from 1,467 Brahman and Brahman X Angus crossbred calves from Brahman and crossbred Brahman sires and Brahman, crossbred Brahman and Angus dams were collected at the Subtropical Agricultural Research Station, Brooksville, Florida, from 1971 to 1982. Best linear unbiased estimates (BLUE) of Brahman sire and dam group additive genetic effects (as deviations from Angus) and Brahman X Angus dam and calf group nonadditive (intralocus) genetic effects (as deviations from intralocus group genetic effects in the parental breeds) were obtained. Linear combinations of these were used to compute direct and maternal Brahman additive and Brahman X Angus nonadditive (intralocus) group genetic effects. The respective BLUE of these four effects were 5.99 +/- 2.08, -5.70 +/- 1.91, .52 +/- 1.81 and 2.85 +/- .72 kg for BW; 9.60 +/- 10.29, 8.76 +/- 9.47, 9.47 +/- 8.96 and 20.95 +/- 3.56 kg for WW; and -1.10 +/- .55, 1.64 +/- .50, 1.47 +/- .47 and .05 +/- .19 units for CS. Linear combinations of the BLUE of sire, dam and calf group genetic effects can be used to predict the genetic worth of crossbred groups composed of any combination of Brahman and Angus breeding. Nonadditive maternal group genetic effects were the most important factor for BW and WW, whereas nonadditive direct group genetic effects were the most important for CS.
Alleles↗
Partitioning average and heterotic components of direct and maternal genetic effects on growth in mice using crossfostering techniques.
Crossfostering was performed using lines selected for increased 6-week body weight (H6) and increased 3-to 6-week postweaning gain (M16) and their reciprocal F1 crosses as nurse dams in the selected crossfostering group, and base population controls (C2, ICR) and their reciprocal F1 crosses in the control group. The offspring suckled were H6, M16 and F2 crosses in the selected group, and C2, ICR and their F2 crosses in the control group. Measurements taken on the individual offspring were body weights at birth (WB) and at 12, 21, 31, 42, and 63 days (W12, W21, W31, W42 and W63, respectively) and weight gains between adjacent ages (GB-12, G12-21, G21-31, G31-42 and G42-63, respectively). Least squares constants fitted to populations of genetic and nurse dams were used to calculate specific linear contrasts. Correlated responses to selection in average direct genetic effects were significant and positive for all traits examined in both H6 and M16, while the correlated responses in average maternal genetic effects were negative in M16 and negligible in H6. Selection response was primarily due to average direct genetic effects while the contribution of average maternal genetic effects was of secondary importance. The response in average direct genetic effects was smaller in M16 for postweaning weights (W31, W42 and W63). The correlated responses in average maternal genetic effects were consistently smaller in M16 than in H6. Direct heterosis was significant for all traits except for G12-21 and G42-63 in the control group, whereas maternal heterosis was significant for weight gains at early ages and for body weights. Direct heterosis tended to be larger than maternal heterosis in both selected and control crosses. Percent direct heterosis for body weight was larger in the selected crosses relative to the control crosses through 31 days of age, but the trend was reversed by 63 days. Percent maternal heterosis was consistently larger in the selected crosses.
Animals↗
Direct and maternal genetic effects due to the introduction of Bos taurus alleles into Brahman cattle in Florida: I. Reproduction and calf survival.
Pregnancy rate, calf survival rate to weaning and calf age at weaning of several types of crossbred cows (2/3 or more Brahman) were compared to those of straightbred Brahman and Angus cows over a 12-yr period at Subtropical Agricultural Research Station near Brooksville, FL. The purpose of this study was to determine the relative importance of additive vs nonadditive genetic effects on reproductive and calf survival traits in a population of cattle whose foundation was selected on the basis of superior reproductive performance under harsh environmental conditions. Best linear unbiased estimates (BLUE) of direct additive effect (measured as the deviation of Brahman additive breed effect from Angus) for pregnancy rate and calf age, measured as traits of the dam, were 6 +/- 3% and -7.2 +/- 2.1 d, respectively. Thus, Bos taurus germ plasm did not increase pregnancy rate but resulted in an earlier calving date. The BLUE of nonadditive (intralocus) direct genetic effects measured as deviations from intralocus group genetic effects in the parental breeds on pregnancy rate and calf age at weaning were 25 +/- 4% and -6.4 +/- 2.5 d. Nonadditive effects on pregnancy rate were the primary cause of the superior reproductive rates observed in Brahman crossbred cows. Calf survival was considered to be a trait of the calf, and BLUE of direct additive, direct nonadditive, maternal additive and maternal nonadditive genetic effects was obtained. Only maternal nonadditive genetic effects were found to have a significant effect on survival rate (9 +/- 4%).
Alleles↗
Results of tests for possible transmitted genetic effects of hycanthone in mammals.
Extensive tests to detect transmitted genetic effects of hycanthone in mammals have been made to provide the most pertinent information for estimating a possible mutagenic hazard of this compound. The tests include dominant lethal studies in males and females, X chromosome loss study in offspring of treated females, and a search for deficiencies and gene mutations in the offspring of treated males whose germ cells were exposed in spermatogonial and postspermatogonial stages. In most tests, no genetic effect of hycanthone was observed even at dosages much higher than the clinical level. In the few cases where the results are possibly or definitely positive, there is none where the magnitude of the effect estimated, with maximizing assumptions, at the clinical level reaches as high as 10% of the spontaneous mutation rate or 10% of the frequency in controls.
Animals↗
Genetic effects and repair of DNA photo-adducts induced by 8-methoxypsoralen and homopsoralen (pyranocoumarin) in diploid yeast.
The relationship between DNA mono- and di-adducts and genetic effects induced by the pyranocoumarin 8,8-desmethylxanthyletine (homopsoralen) HP and 365 nm radiation (UVA) was investigated in the diploid yeast strain D7 (Saccharomyces cerevisiae) taking 8-methoxypsoralen (8-MOP) as a reference compound. The number of DNA cross-links (CLs) induced was determined using alkaline step elution analysis. The induction and removal of total photo-adducts was followed using radioactively labelled compounds. HP showed the same photobinding capacity as 8-MOP. As a function of UVA dose, it was less effective than 8-MOP for the induction of CLs and genetic effects. However, as a function of CLs induced, HP was shown to be more effective for the induction of lethal effects and mitotic recombination than 8-MOP but equally effective for the induction of mutations. The results suggest that, although CLs are recognized as genetically effective lesions, at a given number of CLs, HP induced mono-adducts efficiently contribute to the induction of lethal effects and mitotic recombination but less to the induction of mutations. Using a re-irradiation protocol, HP was brought to yield the same relative amounts of CLs at the same number of total adducts as single UVA exposures with 8-MOP. In these conditions, mutation induction and the kinetics for the removal of photo-adducts were the same for both agents indicating that not only the removal of adducts but also mutation induction are highly dependent on the relative level of CLs induced.
DNA Repair↗
Correlation between direct and maternal genetic effects on body weight in mice.
A new method to estimate the correlation between additive direct genetic effects (Ao) and additive maternal genetic effects (Pm) on body weight was devised to apply to crossfostering data in mice. The correlation between Ao on body weight at 42 days (adult age) and Am on body weight at 12 days (preweaning age) was estimated as 0.561. The nature of this correlation was defined genetically.
Animals↗
Context-specific genetic effects inform endotypes and treatment in asthma.
BACKGROUND: Asthma has heterogeneous risk factors, subtypes, and treatments. It is often unclear how to stratify this heterogeneity in scientific studies and clinical care. Genetics could explain root causes of this clinical heterogeneity, called endotypes, but prior studies have used models that are not designed for complex diseases like asthma. OBJECTIVE: We aimed to find genetic effects that partly explain different asthma endotypes. METHODS: We used recent powerful and robust statistical models of context-specific genetic effects in complex traits. We identified genetic subtypes by clustering clinical asthma features in a case-control cohort, GALA II. We replicated the genetic endotypes in the UK Biobank with gene-context interaction tests. RESULTS: Asthma-associated single nucleotide polymorphisms, polygenic scores, and genome-wide heritability revealed subtype-specific genetic endotypes correlated with type 2 inflammation, allergy, and neuroticism. We validated the type 2 associations with molecular data including nasal RNA sequencing. In the UK Biobank, we replicated these endotypes and found they interact with several polygenic scores and drug-relevant genes. CONCLUSION: Our results show how context-specific genetic effects can unravel biomedically meaningful endotypes of complex disease and suggest novel precision treatment strategies.
Humans↗
Genetic effects in human skeletal muscle fiber type distribution and enzyme activities.
The purpose of the study was to estimate the genetic effect for skeletal muscle characteristics using pairs of nontwin brothers (n = 32), dizygotic (DZ) twins (n = 26), and monozygotic (MZ) twins (n = 35). They were submitted to a needle biopsy of the vastus lateralis for the determination of fiber type distribution (I, IIa, IIb) and the following enzymes were assayed for maximal activity: creatine kinase, hexokinase, phosphofructokinase (PFK), lactate dehydrogenase, malate dehydrogenase, 3-hydroxyacyl CoA dehydrogenase, and oxoglutarate dehydrogenase (OGDH). For the percentage of type I fibers, intraclass correlations were 0.33 (p less than 0.05), 0.52 (p less than 0.01), and 0.55 (p less than 0.01) in brothers and DZ and MZ twins, respectively. MZ twins exhibited significant within-pair resemblance for all enzyme activities (0.30 less than or equal to r less than or equal to 0.68). In spite of these correlations, genetic analyses performed with the twin data alone indicated that there was no significant genetic effect for muscle fiber type I, IIa, and IIb distribution and fiber areas. Although there were significant correlations in MZ twins for all muscle enzyme activities, the often nonsignificant intraclass coefficients found in brothers and DZ twins suggest that variations in enzyme activities are highly related to common environmental conditions and nongenetic factors. However, genetic factors appear to be involved in the variation of regulatory enzymes of the glycolytic (PFK) and citric acid cycle (OGDH) pathways and in the variation of the oxidative to glycolytic activity ratio (PFK/OGDH ratio). Data show that these genetic effects reach only about 25-50% of the total phenotypic variation when data are adjusted for age and sex differences.
3-Hydroxyacyl CoA Dehydrogenases↗
Clinical methods in psychiatric genetics. III. Environmental stratification may simulate a genetic effect in adoption studies.
In adoption studies, the possibility of inadvertent matching between biological and adoptive parents for some environmental variable (known or unknown) correlated with illness must be considered. We examine such bias quantitatively and show how a genetic effect can be simulated. Existence of a genetic effect which is independent of environmental correlation can be accepted, when the frequency of a disease in adoptees who have a biological parent affected and no adoptive parents affected is significantly greater than the frequency of the disease in adoptees who have an adopted parent affected and no biological parents affected. The published data on schizophrenia, alcoholism, and criminality do not exclude the possibility of undetected environmental correlations simulating a genetic effect, according to this direct criterion.
Adoption↗