Journal articles on the topic 'Measles genetic variability'

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1

Hanses, F., R. van Binnendijk, W. Ammerlaan, A. T. Truong, L. de Rond, F. Schneider, and C. P. Muller. "Genetic variability of measles viruses circulating in the Benelux." Archives of Virology 145, no. 3 (March 15, 2000): 541–51. http://dx.doi.org/10.1007/s007050050045.

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2

Beaty, Shannon, and Benhur Lee. "Constraints on the Genetic and Antigenic Variability of Measles Virus." Viruses 8, no. 4 (April 21, 2016): 109. http://dx.doi.org/10.3390/v8040109.

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3

Kühne, Mirjam, David W. G. Brown, and Li Jin. "Genetic variability of measles virus in acute and persistent infections." Infection, Genetics and Evolution 6, no. 4 (July 2006): 269–76. http://dx.doi.org/10.1016/j.meegid.2005.08.003.

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4

Rota, Jennifer S., Kimberly B. Hummel, Paul A. Rota, and William J. Bellini. "Genetic variability of the glycoprotein genes of current wild-type measles isolates." Virology 188, no. 1 (May 1992): 135–42. http://dx.doi.org/10.1016/0042-6822(92)90742-8.

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5

Bankamp, B., E. N. Lopareva, J. R. Kremer, Y. Tian, M. S. Clemens, R. Patel, A. L. Fowlkes, et al. "Genetic variability and mRNA editing frequencies of the phosphoprotein genes of wild-type measles viruses." Virus Research 135, no. 2 (August 2008): 298–306. http://dx.doi.org/10.1016/j.virusres.2008.04.008.

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6

Ciceri, G., M. Canuti, S. Bianchi, M. Gori, A. Piralla, D. Colzani, M. Libretti, et al. "Genetic variability of the measles virus hemagglutinin gene in B3 genotype strains circulating in Northern Italy." Infection, Genetics and Evolution 75 (November 2019): 103943. http://dx.doi.org/10.1016/j.meegid.2019.103943.

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7

Shulga, S. V., P. A. Rota, J. R. Kremer, M. A. Naumova, C. P. Muller, N. T. Tikhonova, E. N. Lopareva, et al. "Genetic variability of wild-type measles viruses, circulating in the Russian Federation during the implementation of the National Measles Elimination Program, 2003–2007." Clinical Microbiology and Infection 15, no. 6 (June 2009): 528–37. http://dx.doi.org/10.1111/j.1469-0691.2009.02748.x.

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8

Bianchi, Silvia, Marta Canuti, Giulia Ciceri, Maria Gori, Daniela Colzani, Marco Dura, Beatrice Marina Pennati, et al. "Molecular Epidemiology of B3 and D8 Measles Viruses through Hemagglutinin Phylogenetic History." International Journal of Molecular Sciences 21, no. 12 (June 22, 2020): 4435. http://dx.doi.org/10.3390/ijms21124435.

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Of the 24 known measles genotypes, only D8 and B3 are responsible for outbreaks in the last years in Europe, Asia, and America. In this study the H gene of 92 strains circulating between 2015 and 2019 in Lombardy, Northern Italy, and 1273 H sequences available in GenBank were analyzed in order to evaluate the genetic variability and to assess the conservation of the immunodominant sites. Overall, in Lombardy we observed the presence of four different B3 and three different D8 clusters, each one of them including sequences derived from viruses found in both vaccinated and unvaccinated subjects. Worldwide, the residue 400 within the H protein, a position located within the main immune epitope, is mutated in all circulating strains that belong to the two globally endemic genotypes, B3 and D8. Our data demonstrate the usefulness of measles virus (MV) H gene sequencing. Indeed, the monitoring the H protein epitopes of circulating strains could be included in the measles laboratory surveillance activities in order to improve and optimize strategies for measles control, as countries go towards elimination phase.
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9

Tetsuo Nakayama, Takayuki Mori, Shinya Yamaguchi, Satomi Sonoda, Sinnji Asamura, Ryoko Yamashita, Yoshinao Takeuchi, and Takashi Urano. "Detection of measles virus genome directly from clinical samples by reverse transcriptase-polymerase chain reaction and genetic variability." Virus Research 35, no. 1 (January 1995): 1–16. http://dx.doi.org/10.1016/0168-1702(94)00074-m.

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10

Mentzer, Alexander J., Daniel O'Connor, Andrew J. Pollard, and Adrian V. S. Hill. "Searching for the human genetic factors standing in the way of universally effective vaccines." Philosophical Transactions of the Royal Society B: Biological Sciences 370, no. 1671 (June 19, 2015): 20140341. http://dx.doi.org/10.1098/rstb.2014.0341.

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Vaccines have revolutionized modern public health. The effectiveness of some vaccines is limited by the variation in response observed between individuals and across populations. There is compelling evidence that a significant proportion of this variability can be attributed to human genetic variation, especially for those vaccines administered in early life. Identifying and understanding the determinants of this variation could have a far-reaching influence upon future methods of vaccine design and deployment. In this review, we summarize the genetic studies that have been undertaken attempting to identify the genetic determinants of response heterogeneity for the vaccines against hepatitis B, measles and rubella. We offer a critical appraisal of these studies and make a series of suggestions about how modern genetic techniques, including genome-wide association studies, could be used to characterize the genetic architecture of vaccine response heterogeneity. We conclude by suggesting how the findings from such studies could be translated to improve vaccine effectiveness and target vaccination in a more cost-effective manner.
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11

Anderson, R. M., and R. M. May. "Age-related changes in the rate of disease transmission: implications for the design of vaccination programmes." Journal of Hygiene 94, no. 3 (June 1985): 365–436. http://dx.doi.org/10.1017/s002217240006160x.

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SUMMARYMathematical models are developed to aid in the investigation of the implications of heterogeneity in contact with infection within a community, on the design of mass vaccination programmes for the control of childhood viral and bacterial infections in developed countries. Analyses are focused on age-dependency in the rate at which individuals acquire infection, the question of ‘who acquires infection from whom’, and the implications of genetic variability in susceptibility to infection. Throughout, theoretical predictions are based on parameter estimates obtained from epidemiological studies and are compared with observed temporal trends in disease incidence and age-stratified serological profiles.Analysis of case notification records and serological data suggest that the rate at which individuals acquire many common infections changes from medium to high and then to low levels in the infant, child and teenage plus adult age groups respectively. Such apparent age-dependency in attack rate acts to reduce slightly the predicted levels of herd immunity required for the eradication of infections such as measles, when compared with the predictions of models based on age-independent transmission. The action of maternally derived immunity in prohibiting vaccination in infants, and the broad span of age classes over which vaccination currently takes place in the U.K., however, argue that levels of herd immunity of between 90 and 94 % would be required to eliminate measles.Problems surrounding the interpretation of apparent age-related trends in the acquisition of infection and their relevance to the design of vaccination programmes, are discussed in relation to the possible role of genetically based variation in susceptibility to infection and observations on epidemics in “virgin” populations. Heterogeneous mixing models provide predictions of changes in serology and disease incidence under the impact of mass vaccination which well mirror observed trends in England and Wales.
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12

Houle, D. "Comparing evolvability and variability of quantitative traits." Genetics 130, no. 1 (January 1, 1992): 195–204. http://dx.doi.org/10.1093/genetics/130.1.195.

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Abstract There are two distinct reasons for making comparisons of genetic variation for quantitative characters. The first is to compare evolvabilities, or ability to respond to selection, and the second is to make inferences about the forces that maintain genetic variability. Measures of variation that are standardized by the trait mean, such as the additive genetic coefficient of variation, are appropriate for both purposes. Variation has usually been compared as narrow sense heritabilities, but this is almost always an inappropriate comparative measure of evolvability and variability. Coefficients of variation were calculated from 842 estimates of trait means, variances and heritabilities in the literature. Traits closely related to fitness have higher additive genetic and nongenetic variability by the coefficient of variation criterion than characters under weak selection. This is the reverse of the accepted conclusion based on comparisons of heritability. The low heritability of fitness components is best explained by their high residual variation. The high additive genetic and residual variability of fitness traits might be explained by the great number of genetic and environmental events they are affected by, or by a lack of stabilizing selection to reduce their phenotypic variance. Over one-third of the quantitative genetics papers reviewed did not report trait means or variances. Researchers should always report these statistics, so that measures of variation appropriate to a variety of situations may be calculated.
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13

Turkheimer, Eric, and Diane F. Halpern. "Sex Differences in Variability for Cognitive Measures." Perspectives on Psychological Science 4, no. 6 (November 2009): 612–14. http://dx.doi.org/10.1111/j.1745-6924.2009.01169.x.

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Theories about the origin of cognitive sex differences must address differences in three portions of ability distributions: low-tail variability, high-tail variability, and mean values. In addition, genetic theories must provide evidence that these three types of differences are (at least in large part) caused by alleles that are located on the X chromosome. It is well established that there are more mentally retarded males than females, and this disparity is attributable to genes located on the X chromosome. By contrast, there are no known “intelligence genes” that can provide a parallel explanation for differences in variability in the high ability tail of distributions. Mean differences between males and females also defy any X-linked hypothesis about average intelligence because females and males excel on different cognitive measures. Thus, we conclude that X-linked genetic explanations of cognitive sex differences can only be substantiated as a causal explanation for the excess of males diagnosed with mental retardation.
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14

Keeling, Matt, and Bryan Grenfell. "Stochastic dynamics and a power law for measles variability." Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences 354, no. 1384 (April 29, 1999): 769–76. http://dx.doi.org/10.1098/rstb.1999.0429.

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Since the discovery of a power law scaling between the mean and variance of natural populations, this phenomenon has been observed for a variety of species. Here, we show that the same form of power law scaling also occurs in measles case reports in England and Wales. Remarkably this power law holds over four orders of magnitude. We consider how the natural experiment of vaccination affects the slope of the power law. By examining simple generic models, we are able to predict the effects of stochasticity and coupling and we propose a new phenomenon associated with the critical community size.
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15

Gompper, Matthew E., Ryan J. Monello, and Lori S. Eggert. "Genetic variability and viral seroconversion in an outcrossing vertebrate population." Proceedings of the Royal Society B: Biological Sciences 278, no. 1703 (July 28, 2010): 204–10. http://dx.doi.org/10.1098/rspb.2010.1113.

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Inverse correlations between genetic variability and parasitism are important concerns for conservation biologists. We examined correlations between neutral genetic variability and the presence of antibodies to canine distemper virus (CDV) and feline parvovirus (FPV) in a free-ranging population of raccoons. Over 3 years there was a strong relationship between age and seroprevalence rates. Most young animals were seronegative to CDV and FPV, but the oldest age class was greater than 80 per cent seropositive to both viruses. CDV-seropositive animals had greater heterozygosity and lower measures of inbreeding compared with CDV-seronegative animals. This relationship was strongest among the youngest animals and did not occur during a 1 year CDV epidemic. In contrast, FPV-seropositive animals only had significantly lower measures of inbreeding in 1 year, perhaps because FPV-associated mortality is relatively low or primarily occurs among very young individuals that were under-represented in our sampling. These results suggest that even in large outcrossing populations, animals with lower heterozygosity and higher measures of inbreeding are less likely to successfully mount an immune response when challenged by highly pathogenic parasites.
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16

Gicquel, E., P. Boettcher, B. Besbes, S. Furre, J. Fernández, C. Danchin-Burge, B. Berger, R. Baumung, J. R. J. Feijóo, and G. Leroy. "Impact of conservation measures on demography and genetic variability of livestock breeds." Animal 14, no. 4 (2020): 670–80. http://dx.doi.org/10.1017/s1751731119002672.

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17

Vapa, Ljiljana, Mihajla Djan, Dragana Obreht, Biljana Tosovic-Maric, Milan Vapa, and Milos Beukovic. "Genetic variability of pheasant (Phasianus spp) in breeding station Ristovaca." Zbornik Matice srpske za prirodne nauke, no. 107 (2004): 5–11. http://dx.doi.org/10.2298/zmspn0417005v.

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One of the possible reasons for pheasant population number decline in past several years might be loss of adaptability in populations originated from breeding stations caused by inbreeding depression. Due to fact that adaptability is a consequence of genetic structure of the populations, the aim of this paper was the analysis of genetic variability in pheasant population from breeding station Ristovaca using molecular markers. Allozyme variability of 20 putative gene loci was detected by polyacrylamide gel electrophoresis. Polymorphism was revealed in 5 loci: Est-1, Pgd, Sod, Gpi-2 and Odh. The values of genetic variability measures - heterozigosity polymorphism, fixation indices and H/P ratio indicate low level of genetic variability and possible presence of inbreeding depression within pheasant population.
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18

SANNA, D., G. L. DEDOLA, F. SCARPA, T. LAI, P. COSSU, M. CURINI-GALLETTI, P. FRANCALACCI, and M. CASU. "New mitochondrial and nuclear primers for the Mediterranean marine bivalve Pinna nobilis." Mediterranean Marine Science 15, no. 2 (July 4, 2014): 416. http://dx.doi.org/10.12681/mms.459.

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Pinna nobilis is the largest endemic Mediterranean marine bivalve. During past centuries, various human activities led to the regression of its populations. As a consequence of stringent standards of protection, demographic expansions are currently reported in many sites. We designed a set of four mitochondrial- and two nuclear- specific PCR-primers with the aim to provide molecular tools to gather new insights into the genetic variability of this species. A total of 54 specimens were sampled from 25 Mediterranean localities in order to evaluate the level of polymorphism of these markers in P. nobilis. The most variable molecular markers identified were the mitochondrial Cytochrome c Oxidase subunit I (COI), NADH dehydrogenase subunit 3 (nad3), and 16S ribosomal DNA (16S). Positive results, in terms of good amplifications and scorable sequences, were also obtained in the co-generic Pinna rudis. The molecular markers identified in this study, and the PCR-protocols provided, represent a useful tool for future researches devoted to infer the genetic variability of P. nobilis populations thus allowing the development of effective conservation measures.
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19

Khanshour, Anas M., Rytis Juras, and E. Gus Cothran. "Microsatellite analysis of genetic variability in Waler horses from Australia." Australian Journal of Zoology 61, no. 5 (2013): 357. http://dx.doi.org/10.1071/zo13062.

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The Waler horse breed is an integral part of Australian history. The purposes of this study were to analyse the genetic variability in Waler horses from Australia and to investigate genetic relationships with other horse breeds. We examined the genetic diversity of 70 Waler horses sampled from seven breeding stations in Australia. Also we analysed the relationships of these horses with 11 other horse breeds. Analysis of the genetic structure was carried out using 15 microsatellite loci, genetic distances, AMOVA, factorial correspondence analysis and a Bayesian method. We found that the genetic diversity in the Waler was greater than the domestic horse mean and exceeded that of all endangered horse breeds. Our findings also revealed moderate population subdivision rather than inbreeding. All genetic similarity measures indicated that the Thoroughbred might be a key ancestor to the Waler. This study indicates that there is no immediate concern for loss of variation in Waler horses. Also, there clearly has been a strong input from the Thoroughbred into the Waler horse breed. However, the genetic evidence suggests that this input was not just direct but also came through other types of horses with a Thoroughbred cross background.
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20

Henriksen, Rie, Andrey Höglund, Jesper Fogelholm, Robin Abbey-Lee, Martin Johnsson, Niels J. Dingemanse, and Dominic Wright. "Intra-Individual Behavioural Variability: A Trait under Genetic Control." International Journal of Molecular Sciences 21, no. 21 (October 29, 2020): 8069. http://dx.doi.org/10.3390/ijms21218069.

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When individuals are measured more than once in the same context they do not behave in exactly the same way each time. The degree of predictability differs between individuals, with some individuals showing low levels of variation around their behavioural mean while others show high levels of variation. This intra-individual variability in behaviour has received much less attention than between-individual variability in behaviour, and very little is known about the underlying mechanisms that affect this potentially large but understudied component of behavioural variation. In this study, we combine standardized behavioural tests in a chicken intercross to estimate intra-individual behavioural variability with a large-scale genomics analysis to identify genes affecting intra-individual behavioural variability in an avian population. We used a variety of different anxiety-related behavioural phenotypes for this purpose. Our study shows that intra-individual variability in behaviour has a direct genetic basis that is largely unique compared to the genetic architecture for the standard behavioural measures they are based on (at least in the detected quantitative trait locus). We identify six suggestive candidate genes that may underpin differences in intra-individual behavioural variability, with several of these candidates having previously been linked to behaviour and mental health. These findings demonstrate that intra-individual variability in behaviour appears to be a heritable trait in and of itself on which evolution can act.
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21

Tefera, Gezahegn. "Evaluation and genetic analysis of common bean genotypes (Phaseolus vulgaris L.) at Dibatie and Mandura, Northwestern Ethiopia." Journal of Agricultural Science and Food Technology 7, no. 5 (October 18, 2021): 82–90. http://dx.doi.org/10.36630/jasft_21004.

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Assessing and understanding the variations existing in crops due to genetic composition and environmental variability is very important in order to exploit the genetic constitution of crop plants. To this aim, variability measures such as phenotypic coefficient of variation (PCV) and genotypic coefficient of variation (GCV) are commonly used. Heritability and genetic advance are major concerns for common bean to identify important traits for common bean genetic improvement. The field experiment was conducted at Mandura and Dibatie research substations working with sixteen genotypes of the common bean during 2017/2018 in lattice design with three replications to evaluate the performance of common bean genotypes and estimate the genetic variability. Heritability and genetic advance were estimated in relation to yield and its component traits for future breeding programs. Combined analysis of variance across locations revealed highly significant variations among genotypes for all traits under study. The PCV ranged from 3.36% for days to flowering to 15.91% for a number of pods per plant while the GCV value ranged from 0.75% for days to flowering to 13.74% for the number of pods per plant. Broad sense heritability values ranged from 5.00% for days to flowering to 84.61% for a hundred seed weight. Generally, the result of the study showed that significant genetic variability among tested genotypes and a simple selection for effective improvement of these traits. Keywords: common bean, genetic variability, genetic advance, heritability
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22

Stephan, W., and S. Cho. "Possible role of natural selection in the formation of tandem-repetitive noncoding DNA." Genetics 136, no. 1 (January 1, 1994): 333–41. http://dx.doi.org/10.1093/genetics/136.1.333.

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Abstract A simulation model of sequence-dependent amplification, unequal crossing over and mutation is analyzed. This model predicts the spontaneous formation of tandem-repetitive patterns of noncoding DNA from arbitrary sequences for a wide range of parameter values. Natural selection is found to play an essential role in this self-organizing process. Natural selection which is modeled as a mechanism for controlling the length of a nucleotide string but not the sequence itself favors the formation of tandem-repetitive structures. Two measures of sequence heterogeneity, inter-repeat variability and repeat length, are analyzed in detail. For fixed mutation rate, both inter-repeat variability and repeat length are found to increase with decreasing rates of (unequal) crossing over. The results are compared with data on micro-, mini- and satellite DNAs. The properties of minisatellites and satellite DNAs resemble the simulated structures very closely. This suggests that unequal crossing over is a dominant long-range ordering force which keeps these arrays homogeneous even in regions of very low recombination rates, such as at satellite DNA loci. Our analysis also indicates that in regions of low rates of (unequal) crossing over, inter-repeat variability is maintained at a low level at the expense of much larger repeat units (multimeric repeats), which are characteristic of satellite DNA. In contrast, the microsatellite data do not fit the proposed model well, suggesting that unequal crossing over does not act on these very short tandem arrays.
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23

Lessov-Schlaggar, Christina N., Neal L. Benowitz, Peyton Jacob, and Gary E. Swan. "Genetic Influences on Individual Differences in Nicotine Glucuronidation." Twin Research and Human Genetics 12, no. 5 (October 1, 2009): 507–13. http://dx.doi.org/10.1375/twin.12.5.507.

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AbstractNicotine and its primary oxidative metabolites are metabolized in part by glucuronidation. Genetic variation in UGT isoenzymes that catalyze glucuronidation activity suggests that variation in glucuronidation rate is in part genetically determined. The relative contribution of genetic and environmental sources to individual differences in the rate of glucuronidation of nicotine, cotinine, and trans-3'-hydroxycotinine was estimated in a twin study of nicotine pharmacokinetics. Glucuronidation rate was defined using measures that either accounted for variability in renal clearance or assumed the same relative renal clearance of parent drug and glucuronide conjugate across individuals. The former definition resulted in highly correlated nicotine and cotinine glucuronidation measures that were substantially influenced by the combined effect of additive (heritable) and non-additive (dominant and epistatic) genetic effects. These findings suggest that genetic variation in UGT isoenzymes that act in additive and interactive ways is an important determinant of individual variability in nicotine and cotinine metabolism via glucuronidation pathways.
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24

Khanshour, Hempsey, Juras, and Cothran. "Genetic Characterization of Cleveland Bay Horse Breed." Diversity 11, no. 10 (September 20, 2019): 174. http://dx.doi.org/10.3390/d11100174.

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The Cleveland Bay (CB) is the United Kingdom’s oldest established horse breed. In this study we analyzed the genetic variability in CB horses and investigated its genetic relationships with other horse breeds. We examined the genetic variability among 90 CB horses sampled in the USA compared to a total of 3447 horses from 59 other breeds. Analysis of the genetic diversity and population structure was carried out using 15 microsatellite loci. We found that genetic diversity in CB horses was less than that for the majority of other tested breeds. The genetic similarity measures showed no direct relationship between the CB and Thoroughbred but suggested the Turkman horses (likely in the lineage of ancestors of the Thoroughbred) as a possible ancestor. Our findings reveal the genetic uniqueness of the CB breed and indicate its need to be preserved as a genetic resource.
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25

Fabrizio, Carlo, Andrea Termine, Valerio Caputo, Domenica Megalizzi, Giulia Calvino, Giulia Trastulli, Arcangela Ingrascì, et al. "Analysis of Genetic Variants Associated with COVID-19 Outcome Highlights Different Distributions among Populations." Journal of Personalized Medicine 12, no. 11 (November 5, 2022): 1851. http://dx.doi.org/10.3390/jpm12111851.

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The clinical spectrum of SARS-CoV-2 infection ranges from asymptomatic status to mild infections, to severe disease and death. In this context, the identification of specific susceptibility factors is crucial to detect people at the higher risk of severe disease and improve the outcome of COVID-19 treatment. Several studies identified genetic variants conferring higher risk of SARS-CoV-2 infection and COVID-19 severity. The present study explored their genetic distribution among different populations (AFR, EAS, EUR and SAS). As a result, the obtained data support the existence of a genetic basis for the observed variability among populations, in terms of SARS-CoV-2 infection and disease outcomes. The comparison of ORs distribution for genetic risk of infection as well as for disease outcome shows that each population presents its own characteristics. These data suggest that each country could benefit from a population-wide risk assessment, aimed to personalize the national vaccine programs and the preventative measures as well as the allocation of resources and the access to proper therapeutic interventions. Moreover, the host genetics should be further investigated in order to realize personalized medicine protocols tailored to improve the management of patients suffering from COVID-19.
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26

Mackinnon, A. J., A. S. Henderson, and G. Andrews. "Genetic and environmental determinants of the lability of trait neuroticism and the symptoms of anxiety and depression." Psychological Medicine 20, no. 3 (August 1990): 581–90. http://dx.doi.org/10.1017/s0033291700017086.

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SynopsisA genetic analysis was conducted on trait neuroticism and symptoms of anxiety and depression in a five-wave study of 462 twin pairs. Models that assessed the relative importance of genetic and environmental factors to the lability (within-individual variability over time) of these measures were fitted to the data. Previous results concerning the substantial genetic involvement in the level of neuroticism and symptoms were confirmed. However, it was found that neither genes nor the shared environment of the twins was a significant cause of lability of these measures. An attempt was therefore made to identify aspects of individuals' environments that might be responsible for lability of neuroticism and symptoms. Adverse life events were found to predict variability of symptoms, but not of neuroticism. The availability of close social ties or having affectionless control in childhood did not contribute to lability.
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27

Singh, Jagmeet P., Martin G. Larson, Christopher J. O'Donnell, and Daniel Levy. "Genetic factors contribute to the variance in frequency domain measures of heart rate variability." Autonomic Neuroscience 90, no. 1-2 (July 2001): 122–26. http://dx.doi.org/10.1016/s1566-0702(01)00277-6.

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28

Allegrini, Andrea G., Brittany E. Evans, Susanne de Rooij, Kirstin Greaves-Lord, and Anja C. Huizink. "Gene × Environment contributions to autonomic stress reactivity in youth." Development and Psychopathology 31, no. 1 (December 17, 2017): 293–307. http://dx.doi.org/10.1017/s095457941700181x.

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AbstractDysregulated physiological stress reactivity has been suggested to impact the development of children and adolescents with important health consequences throughout the life span. Both environmental adversity and genetic predispositions can lead to physiological imbalances in stress systems, which in turn lead to developmental differences. We investigated genetic and environmental contributions to autonomic nervous system reactivity to a psychosocial stressor. Furthermore, we tested whether these effects were consistent with the differential susceptibility framework. Composite measures of adverse life events combined with socioeconomic status were constructed. Effects of these adversity scores in interaction with a polygenic score summarizing six genetic variants, which were hypothesized to work as susceptibility factors, were tested on autonomic nervous system measures as indexed by heart rate and heart rate variability. Results showed that carriers of more genetic variants and exposed to high adversity manifested enhanced heart rate variability reactivity to a psychosocial stressor compared to carriers of fewer genetic variants. Conversely, the stress procedure elicited a more moderate response in these individuals compared to carriers of fewer variants when adversity was low.
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29

Cornetti, Luca, Matteo Girardi, Samuele Ghielmi, and Cristiano Vernesi. "Museum specimens indicate genetic erosion in an endangered lizard." Amphibia-Reptilia 39, no. 3 (2018): 347–54. http://dx.doi.org/10.1163/15685381-17000198.

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Abstract Genetic variability, one of the main factors that guarantees species persistence, and species’ conservation status are generally evaluated with indices calculated at the present time. Natural history collections might help compare historical and current genetic diversity so to identify major trends. Here we analysed museum specimens of the lizard Zootoca vivipara carniolica, with a specific and stringent protocol for degraded DNA, in order to contrast its past and current genetic variability, using fragments of one mitochondrial DNA gene. Part of the distributional range of Z. v. carniolica (Po Plain, Italy), heavily impacted by human activities, was investigated. We found two previously unknown haplotypes in populations that are extinct today, suggesting the loss of these haplotypes and thus an overall shrinking of genetic variability. We argue that these results, together with the increasing threats posed by climate and land use changes, suggest that specific conservation measures for the persistence of Z. v. carniolica in Northern Italian lowlands have to be considered.
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30

Kostal, Lubomir, Petr Lansky, and Ondrej Pokora. "Variability Measures of Positive Random Variables." PLoS ONE 6, no. 7 (July 22, 2011): e21998. http://dx.doi.org/10.1371/journal.pone.0021998.

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31

Kuntsi, J., A. C. Frazier-Wood, T. Banaschewski, M. Gill, A. Miranda, R. D. Oades, H. Roeyers, et al. "Genetic analysis of reaction time variability: room for improvement?" Psychological Medicine 43, no. 6 (September 14, 2012): 1323–33. http://dx.doi.org/10.1017/s0033291712002061.

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BackgroundIncreased reaction time variability (RTV) on cognitive tasks requiring a speeded response is characteristic of several psychiatric disorders. In attention deficit hyperactivity disorder (ADHD), the association with RTV is strong phenotypically and genetically, yet high RTV is not a stable impairment but shows ADHD-sensitive improvement under certain conditions, such as those with rewards. The state regulation theory proposed that the RTV difference score, which captures change from baseline to a rewarded or fast condition, specifically measures ‘state regulation’. By contrast, the interpretation of RTV baseline (slow, unrewarded) scores is debated. We aimed to investigate directly the degree of phenotypic and etiological overlap between RTV baseline and RTV difference scores.MethodWe conducted genetic model fitting analyses on go/no-go and fast task RTV data, across task conditions manipulating rewards and event rate, from a population-based twin sample (n=1314) and an ADHD and control sibling-pair sample (n=1265).ResultsPhenotypic and genetic/familial correlations were consistently high (0.72–0.98) between RTV baseline and difference scores, across tasks, manipulations and samples. By contrast, correlations were low between RTV in the manipulated condition and difference scores. A comparison across two different go/no-go task RTV difference scores (slow-fast/slow-incentive) showed high phenotypic and genetic/familial overlap (r = 0.75–0.83).ConclusionsOur finding that RTV difference scores measure largely the same etiological process as RTV under baseline condition supports theories emphasizing the malleability of the observed high RTV. Given the statistical shortcomings of difference scores, we recommend the use of RTV baseline scores for most analyses, including genetic analyses.
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Кулаков, Евгений, Evgeniy Kulakov, Владимир Сиволапов, Vladimir Sivolapov, Елена Воробьева, Elena Vorob'eva, Алексей Сиволапов, and Aleksey Sivolapov. "genetic variability of sukachev's larch (larix sukaczewii djil.) in geographical cultures under Voronezh." Forestry Engineering Journal 8, no. 1 (March 19, 2018): 37–44. http://dx.doi.org/10.12737/article_5ab0dfbc03a703.71494463.

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Information on the genetic structure of populations of forest tree plants is the basis for assessing the genetic po-tential of the species. These studies are particularly relevant for economically valuable species and species occupying extensive areas, like larch. Accurate information about the genetic structure of populations, the level of their genetic variability, the nature of its distribution within the range allows us to designate measures aimed at preserving the genet-ic resources of the species for the use in the country's economy and reproduction. During the analysis of electrophoretic spectra of the products of amplification of six nuclear microsatellite loci 42 allelic variants have been identified. An estimation of the genetic polymorphism of the population structure of forest plantations of Sukachev’s larch from the seeds of the Sverdlovsk region by microsatellite analysis for 6 pairs of pri-mers is given.
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Duarte, A. V. M., C. L. Correa, M. A. A. Barelli, B. W. Zago, N. L. Sander, T. S. Guimarães, D. D. Silva, V. P. da Silva, and R. Felipin-Azevedo. "Genetic Variability of Isolates of Ramulispora sorghi From Cáceres-MT, Brazil." Journal of Agricultural Science 11, no. 10 (July 15, 2019): 250. http://dx.doi.org/10.5539/jas.v11n10p250.

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Among the most produced cereals worldwide, sorghum (Sorghum bicolor (L.) Moench), presents low productivity in Brazil, mainly due to the occurrence of diseases, with a prominence of sooty stripe, caused by the fungus Ramulispora sorghi, until then considered a secondary disease, has increased its incidence and severity, especially in conditions of high humidity and temperature. The most efficient means of control is the use of resistant cultivars, in this sense, studies on the genetic variability of the fungus through molecular markers are of great importance for the breeding programs of sorghum. The objective of this work was to evaluate the genetic variability in isolates of Ramulispora sorghi belonging to the mycoteca of the Laboratory of Genetic Resources & Biotechnology of the Universidade do Estado de Mato Grosso, campus of Cáceres, via molecular markers of the ISSR type. The results indicate the existence of genetic variability among the isolates of R. sorghi. The Polymorphic Information Content (PIC) showed that the primers were classified as medium informational with an average value of 0.27. 71 polymorphic fragments were formed considering the 40 isolates of R. sorghi, which presented the value of k = 2, represent the differentiation of the isolates into two distinct clusters. The genetic dissimilarity measures were estimated by the Coefficient of Nei and Li, where the combination between the isolates B107/16 (15) and B103/15 (16) obtained the smallest magnitude (0,12) and the combinations between isolates B111/16 (2) and S114/15 (33), S316/15 (3) and S114/15 (33), B115/16 (4) and S114/15 (33), B118/16 (6) and S114/15 (33) were more dissimilar (1,00). The “UPGMA” method provided a breakdown of the 40 isolates into 4 distinct groups. The Cophenetic Correlaction Coefficient (CCC) presented significant value with r = 0,84. The Tocher’s optimization method allowed the 40 isolates to be distributed in 10 different groups. These results provide relevant information on the genetic variability among the 40 isolates of R. sorghi analyzed. In addition, they indicate that fungus have a wide genetic diversity, and have been recurring in different regions of Brazil and the world, and thus, larger studies become essential for more effective control measures.
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Poland, Gregory A. "Variability in Immune Response to Pathogens: Using Measles Vaccine to Probe Immunogenetic Determinants of Response." American Journal of Human Genetics 62, no. 2 (February 1998): 215–20. http://dx.doi.org/10.1086/301736.

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35

Iring, Stephanie, Michelle Favre, Leslie Del La Cruz, Bishoy Sammy, Jie Liu, and Jorge Serrador. "Measures of Heart‐Rate Variability Immediately Post Concussion." FASEB Journal 34, S1 (April 2020): 1. http://dx.doi.org/10.1096/fasebj.2020.34.s1.09667.

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36

Fraser, Dylan J., Paul V. Debes, Louis Bernatchez, and Jeffrey A. Hutchings. "Population size, habitat fragmentation, and the nature of adaptive variation in a stream fish." Proceedings of the Royal Society B: Biological Sciences 281, no. 1790 (September 7, 2014): 20140370. http://dx.doi.org/10.1098/rspb.2014.0370.

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Whether and how habitat fragmentation and population size jointly affect adaptive genetic variation and adaptive population differentiation are largely unexplored. Owing to pronounced genetic drift, small, fragmented populations are thought to exhibit reduced adaptive genetic variation relative to large populations. Yet fragmentation is known to increase variability within and among habitats as population size decreases. Such variability might instead favour the maintenance of adaptive polymorphisms and/or generate more variability in adaptive differentiation at smaller population size. We investigated these alternative hypotheses by analysing coding-gene, single-nucleotide polymorphisms associated with different biological functions in fragmented brook trout populations of variable sizes. Putative adaptive differentiation was greater between small and large populations or among small populations than among large populations. These trends were stronger for genetic population size measures than demographic ones and were present despite pronounced drift in small populations. Our results suggest that fragmentation affects natural selection and that the changes elicited in the adaptive genetic composition and differentiation of fragmented populations vary with population size. By generating more variable evolutionary responses, the alteration of selective pressures during habitat fragmentation may affect future population persistence independently of, and perhaps long before, the effects of demographic and genetic stochasticity are manifest.
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Cozzi, Maria C., Maria G. Strillacci, Paolo Valiati, Elisa Rogliano, Alessandro Bagnato, and Maria Longeri. "Genetic variability of Akhal-Teke horses bred in Italy." PeerJ 6 (September 6, 2018): e4889. http://dx.doi.org/10.7717/peerj.4889.

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Background The Akhal-Teke horse (AKH) is native of the modern Turkmenistan area. It was introduced in Italy from 1991 to 2000 mainly as an endurance horse. This paper characterizes the genetic variability of the whole Italian AKH horse population and evaluates their inbreeding level by analyzing microsatellite markers and mitochondrial D-Loop sequences. Methods Seventeen microsatellite marker loci were genotyped on 95 DNA samples from almost all the AKH horses bred in Italy in the last 20 years. Standard genetic variability measures (Ho, He, FIS) were compared against the same variables published on other eight AKH populations. In addition, 397 bp of mtDNA D-loop region were sequenced on a sub-group of 22 unrelated AKH out of the 95 sampled ones, and on 11 unrelated Arab horses. The haplotypes identified in the Italian population were aligned to sequences of AKH (56), Arab (five), Caspian Pony (13), Przewalskii (two) and Barb (15) horses available in GenBank. The Median Joining Network (MJN), Principal Component Analysis (PCA) and Neighbor-joining (NJ) tree were calculated on the total 126 sequences. Results Nucleic markers showed a high degree of polymorphism (Ho = 0.642; He = 0.649) and a low inbreeding level (FIS = 0.016) in Italian horses, compared to other AKH populations (ranged from −0.103 AKH from Estonia to 0.114 AKH from Czech Republic). High variability was also recorded in the D-Loop region. 11 haplotypes were identified with haplotype diversity (hd), nucleotide diversity (π) and average number of nucleotide differences (k) of 0.938, 0.021 and 6.448, respectively. When all the 126 D-Loop sequences were compared, 51 haplotypes were found, and four were here found only in the Italian AKH horses. The 51 haplotypes were conformed to eight recognized mtDNA haplogroups (A, C, F, G, L, M, P and Q) and confirmed by MJN analysis, Italian horses being assigned to five haplogroups (A, C, G, L and M). Using a PCA approach to the same data, the total haplotypes were grouped into two clusters including A+C+M+P and G+F haplogroups, while L and Q haplogroups remained ungrouped. Finally, the NJ algorithm effectively discretizes only the L haplogroup. All the above data univocally indicate good genetic variability and accurate management of the Akhal-Teke population in Italy.
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Salah, L. M., K. Oreschak, A. V. Ambardekar, R. L. Page, J. Lindenfeld, and C. L. Aquilante. "Effect of CYP3A Genetic Variants on Different Measures of Tacrolimus Variability in Heart Transplant Recipients." Journal of Heart and Lung Transplantation 39, no. 4 (April 2020): S212. http://dx.doi.org/10.1016/j.healun.2020.01.838.

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Musso, Mandi, Holly James Westervelt, Jeffrey D. Long, Erin Morgan, Steven Paul Woods, Megan M. Smith, Wenjing Lu, and Jane S. Paulsen. "Intra-individual Variability in Prodromal Huntington Disease and Its Relationship to Genetic Burden." Journal of the International Neuropsychological Society 21, no. 1 (January 2015): 8–21. http://dx.doi.org/10.1017/s1355617714001076.

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AbstractThe current study sought to examine the utility of intra-individual variability (IIV) in distinguishing participants with prodromal Huntington disease (HD) from nongene-expanded controls. IIV across 15 neuropsychological tasks and within-task IIV using a self-paced timing task were compared as a single measure of processing speed (Symbol Digit Modalities Test [SDMT]) in 693 gene-expanded and 191 nongene-expanded participants from the PREDICT-HD study. After adjusting for depressive symptoms and motor functioning, individuals estimated to be closest to HD diagnosis displayed higher levels of across- and within-task variability when compared to controls and those prodromal HD participants far from disease onset (FICV(3,877)=11.25; p<.0001; FPacedTiming(3,877)=22.89; p<.0001). When prodromal HD participants closest to HD diagnosis were compared to controls, Cohen’s d effect sizes were larger in magnitude for the within-task variability measure, paced timing (−1.01), and the SDMT (−0.79) and paced tapping coefficient of variation (CV) (−0.79) compared to the measures of across-task variability [CV (0.55); intra-individual standard deviation (0.26)]. Across-task variability may be a sensitive marker of cognitive decline in individuals with prodromal HD approaching disease onset. However, individual neuropsychological tasks, including a measure of within-task variability, produced larger effect sizes than an index of across-task IIV in this sample. (JINS, 2015, 21, 8–21)
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40

Hermida, M., C. Fernández, R. Amaro, and E. San Miguel. "Heritability and "evolvability" of meristic characters in a natural population of Gasterosteus aculeatus." Canadian Journal of Zoology 80, no. 3 (March 1, 2002): 532–41. http://dx.doi.org/10.1139/z02-022.

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Phenotypic and genetic variabilities of nine meristic traits (in threespine stickleback, Gasterosteus aculeatus) were calculated for 33 full-sib families raised under controlled laboratory conditions and for 33 pairs caught in nature. Heritabilities were measured using three methods: regression (across environments, laboratory–nature), full sib (laboratory), and minimum estimate (nature). Evolvabilities, as an alternative measure of genetic variability, were computed from the genetic coefficient of variation across environments, in the laboratory, and in nature. In general terms, phenotypic variability was smaller in laboratory-reared fish than in wild fish. Results applying both parameters (heritability and evolvability) suggest that in the natural environment, there is a relevant presence of additive genetic variability for lateral-plate number and, to a lesser extent, for lower gill rakers, as well as maternal effects on caudal and abdominal vertebrae and paternal effects on dorsal fin rays. Some of the meristic traits examined are bilateral. Heritabilities across environments and in the laboratory for fluctuating asymmetry values were calculated according to conventional methods and also employing method 2 of Falconer. Qualitatively, the results were almost the same using the two methods: most heritability values were around zero, even taking into account overall measures of fluctuating asymmetry.
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Baatout, Hedi, Daniel Combes, and Mohamed Marrakchi. "Reproductive system and population structure in two Hedysarum subspecies. I. Genetic variation within and between populations." Genome 34, no. 3 (June 1, 1991): 396–406. http://dx.doi.org/10.1139/g91-061.

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Several samples of wild populations of two subspecies of the genus Hedysarum (H. spinosissimum subspecies capitatum, an outcrosser, and H. spinosissimum subspecies euspinosissimum, a selfer) were examined with respect to variability of 25 quantitative characters and allozyme variation at 13 loci. The amount of phenotypic and genetic variation within and among populations was documented. For most of the 25 quantitative characters, the differences between population means and between the total variances of the populations were higher in the selfer than in the outbreeder. Significant among-population genetic variation was found for nearly all characters in the two subspecies, but the outbreeder had higher within-population variability than the selfer with heterogeneity among characters. However, allozyme variation at 13 loci in about the same number of populations showed higher levels of genetic variability in the outcrossing subspecies capitatum compared with the selfing subspecies euspinosissimum, based on measures of mean number of alleles per locus, mean proportion of polymorphic loci, and mean heterozygosity. Therefore, H. spinosissimum subsp. capitatum appeared to be highly polymorphic in contrast to the greater monomorphism within populations of H. spinosissimum subsp. euspinosissimum. The genetic affinities of different populations of a subspecies are uniformly high, with Nei's genetic identity ranging from 0.983 to 0.997 in the selfing subspecies euspinosissimum and from 0.922 to 1.000 in the outcrossing subspecies capitatum.Key words: Hedysarum, genetic variation, populations, electrophoresis.
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42

Prangishvili, David, Hans Peter Arnold, Dorothee Götz, Ulrike Ziese, Ingelore Holz, Jakob K. Kristjansson, and Wolfram Zillig. "A Novel Virus Family, the Rudiviridae: Structure, Virus-Host Interactions and Genome Variability of the Sulfolobus Viruses SIRV1 and SIRV2." Genetics 152, no. 4 (August 1, 1999): 1387–96. http://dx.doi.org/10.1093/genetics/152.4.1387.

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Abstract The unenveloped, stiff-rod-shaped, linear double-stranded DNA viruses SIRV1 and SIRV2 from Icelandic Sulfolobus isolates form a novel virus family, the Rudiviridae. The sizes of the genomes are 32.3 kbp for SIRV1 and 35.8 kbp for SIRV2. The virions consist of a tube-like superhelix formed by the DNA and a single basic 15.8-kD DNA-binding protein. The tube carries a plug and three tail fibers at each end. One turn of the DNA-protein superhelix measures 4.3 nm and comprises 16.5 turns of B DNA. The linear DNA molecules appear to have covalently closed hairpin ends. The viruses are not lytic and are present in their original hosts in carrier states. Both viruses are quite stable in these carrier states. In several laboratory hosts SIRV2 was invariant, but SIRV1 formed many different variants that completely replaced the wild-type virus. Some of these variants were still variable, whereas others were stable. Up to 10% nucleotide substitution was found between corresponding genome fragments of three variants. Some variants showed deletions. Wild-type SIRV1, but not SIRV2, induces an SOS-like response in Sulfolobus. We propose that wild-type SIRV1 is unable to propagate in some hosts but surmounts this host range barrier by inducing a host response effecting extensive variation of the viral genome.
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Choupina, AB, and IM Martins. "Molecular markers for genetic diversity, gene flow and genetic population structure of freshwater mussel species." Brazilian Journal of Biology 74, no. 3 suppl 1 (August 2014): s167—s170. http://dx.doi.org/10.1590/1519-6984.25112.

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Freshwater mussel species are in global decline. Anthropogenic changes of river channels and the decrease of autochthonous fish population, the natural hosts of mussels larval stages (glochidia), are the main causes. Therefore, the conservation of mussel species depends not only on habitat conservation, but also on the availability of the fish host. In Portugal, information concerning most of the mussel species is remarkably scarce. One of the most known species, Unio pictorum is also in decline however, in the basins of the rivers Tua and Sabor (Northeast of Portugal), there is some indication of relatively large populations. The aforementioned rivers can be extremely important for this species conservation not only in Portugal, but also in the remaining Iberian Peninsula. Thus, it is important to obtain data concerning Unio pictorum bioecology (distribution, habitat requirements, population structure, genetic variability, reproductive cycle and recruitment rates), as well as the genetic variability and structure of the population. Concomitantly, information concerning fish population structure, the importance of the different fish species as “glochidia” hosts and their appropriate density to allow effective mussel recruitment, will also be assessed. The achieved data is crucial to obtain information to develop effective management measures in order to promote the conservation of this bivalve species, the conservation of autochthonous fish populations, and consequently the integrity of the river habitats.
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Tegegne, Balewgizie S., Tengfei Man, Arie M. van Roon, Nigus G. Asefa, Harriëtte Riese, Ilja Nolte, and Harold Snieder. "Heritability and the Genetic Correlation of Heart Rate Variability and Blood Pressure in >29 000 Families." Hypertension 76, no. 4 (October 2020): 1256–62. http://dx.doi.org/10.1161/hypertensionaha.120.15227.

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Dysregulation of the cardiac autonomic nervous system, as indexed by reduced heart rate variability (HRV), has been associated with the development of high blood pressure (BP). However, the underlying pathological mechanisms are not yet fully understood. This study aimed to estimate heritability of HRV and BP and to determine their genetic overlap. We used baseline data of the 3-generation Lifelines population-based cohort study (n=149 067; mean age, 44.5). In-house software was used to calculate root mean square of successive differences and SD of normal-to-normal intervals as indices of HRV based on 10-second resting ECGs. BP was recorded with an automatic BP monitor. We estimated heritabilities and genetic correlations with variance components methods in ASReml software. We additionally estimated genetic correlations with bivariate linkage disequilibrium score regression using publicly available genome-wide association study data. The heritability (SE) estimates were 15.6% (0.90%) for SD of normal-to-normal intervals and 17.9% (0.90%) for root mean square of successive differences. For BP measures, they ranged from 24.4% (0.90%) for pulse pressure to 30.3% (0.90%) for diastolic BP. Significant negative genetic correlations (all P <0.0001) of root mean square of successive differences/SD of normal-to-normal intervals with systolic BP (−0.20/−0.16) and with diastolic BP (−0.15/−0.13) were observed. LD score regression showed largely consistent genetic correlation estimates of root mean square of successive differences/SD of normal-to-normal intervals with systolic BP (range, −0.08 to −0.23) and diastolic BP (range, −0.20 to −0.27). Our study shows a substantial contribution of genetic factors in explaining the variance of HRV and BP measures in the general population. The significant negative genetic correlations between HRV and BP indicate that genetic pathways for HRV and BP partially overlap.
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Popović, Vladan, Aleksandar Lučić, Ljubinko Rakonjac, Sanja Jovanović, and Ivica Lazarević. "Variability of Hungarian oak (Quercus frainetto Ten.) from the territory of Lipovica according to morphological traits of seedlings." Sustainable Forestry: Collection, no. 83-84 (2021): 27–36. http://dx.doi.org/10.5937/sustfor2183027p.

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Natural populations of Hungarian oak in Serbia are found near the northwestern boundary of the range of distribution of this significant forest species. The survival of forest border provenances is endangered due to climate change, small population size, low species competitiveness, etc. Therefore, ancillary measures of population regeneration support are recommended along with broadening of their genetic diversity. Although the knowledge of the levels and structure of genetic diversity of populations is a prerequisite for successful conservation and use, research of this topic regarding Hungarian oak is rare. The analyses of morphological traits of one-year-old seedlings of 40 half-sib families are carried out in order to gain insight into the variability of Hungarian oak population in Lipovica. The intrapopulation variability was determined based on two measured morphological parameters and one derived ratio. The obtained results show there is a significant variability of morphological traits of seedlings on the level of half-sib families and they indicate a high phenotypic variability of the researched traits. The results of the analysis of variance show statistically significant differences between the researched halfsib families for all observed traits. The researched gene pool of Hungarian oak is characterized by a satisfactory degree of genetic variability and represents a good starting point for the process of further breeding. In order to confirm the results of this research, i.e., to determine more precisely genetic structure of the population, it is necessary to perform analyses of various phenotypic traits in specially designed field plantations as well as the analysis of adequate DNA markers.
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Maksimovic, Zoran, and Mirjana Sijacic-Nikolic. "Morphometric characteristics of black poplar (Populus nigra L.) leaves in the area of Great War Island." Bulletin of the Faculty of Forestry, no. 108 (2013): 93–108. http://dx.doi.org/10.2298/gsf1308093m.

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This paper presents the results of an analysis of the morphometric characteristics of the leaves of 14 test black poplar (Populus nigra L.) trees, from the region of Great War Island, indicating a satisfactory degree of intrapopulation genetic variability. The knowledge of the extent and nature of variability in natural populations is a starting point for the breeding and conservation of genetic resources of forest trees. To this end, it is necessary to begin with the implementation of appropriate measures of in situ and ex situ conservation that will enable long-term preservation and enhancement of the ecological adaptability and the evolutionary potential of the populations of black poplar on Great War Island.
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Kotov, Ivan, Valeriia Saenko, Nadezhda Borisova, Anton Kolesnikov, Larisa Kondrasheva, Elena Tivanova, Kamil Khafizov, and Vasily Akimkin. "Effective Approaches to Study the Genetic Variability of SARS-CoV-2." Viruses 14, no. 9 (August 24, 2022): 1855. http://dx.doi.org/10.3390/v14091855.

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Significant efforts are being made in many countries around the world to respond to the COVID-19 pandemic by developing diagnostic reagent kits, identifying infected people, determining treatment methods, and finally producing effective vaccines. However, novel coronavirus variants may potentially reduce the effectiveness of all these efforts, demonstrating increased transmissibility and abated response to therapy or vaccines, as well as the possibility of false negative results in diagnostic procedures based on nucleic acid amplification methods. Since the end of 2020, several variants of concern have been discovered around the world. When information about a new, potentially more dangerous strain of pathogen appears, it is crucial to determine the moment of its emergence in a region. Eventually, that permits taking timely measures and minimizing new risks associated with the spreading of the virus. Therefore, numerous nations have made tremendous efforts to identify and trace these virus variants, which necessitates serious technological processes to sequence a large number of viral genomes. Here, we report on our experience as one of the primary laboratories involved in monitoring SARS-CoV-2 variants in Russia. We discuss the various approaches used, describe effective protocols, and outline a potential technique combining several methods to increase the ability to trace genetic variants while minimizing financial and labor costs.
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48

Gentili, R., G. Fenu, M. Porceddu, I. Bruni, S. Citterio, and G. Bacchetta. "Genetic variability of the first-generation of Ribes sardoum, a threatened relic plant requiring translocation measures." Plant Biosystems - An International Journal Dealing with all Aspects of Plant Biology 153, no. 1 (February 16, 2018): 1–4. http://dx.doi.org/10.1080/11263504.2018.1435574.

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49

Schutte, Debra L., Meridean Maas, and Kathleen C. Buckwalter. "A LRPAP1 Intronic Insertion/Deletion Polymorphism and Phenotypic Variability in Alzheimer Disease." Research and Theory for Nursing Practice 17, no. 4 (December 2003): 301–19. http://dx.doi.org/10.1891/rtnp.17.4.301.53188.

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Alzheimer disease (AD) is a neurodegenerative disorder, characterized by dementia. AD exhibits variability in age at onset, rate of progression, and specific cognitive, functional, and behavioral features. Genetic variants are potential modulators of phenotypic variability. The purpose of this study was to explore the relationship between a polymorphism in the Low Density Lipoprotein Receptor Related Protein-Associated Protein (LRPAP1) gene (4p16.3) and repeated measures of cognition, function, and behavior in persons with AD, using outcome data collected in two caregiver intervention studies. Thirty-seven subjects diagnosed with probable or possible AD were recruited. All subjects were genotyped for a 37 basepair insertion/deletion polymorphism in intron 5 of the LRPAP1 gene. No differences in allele or genotype frequencies by gender or by age at onset were identified. No statistically significant genotype effects upon cognition or behavior were identified. However, trends were noted in measures of language, with the LRPAP1 insertion-positive subjects exhibiting poorer language scores (average score difference = 28%, p = .158). LRPAP1 insertion-positive subjects also were more functionally impaired than subjects without the LRPAP1 insertion allele (F1,7 = 7.36, p = .030). These results suggest genetic variations at the LRPAP1 locus may modulate AD phenotype beyond risk for disease.
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Acosta-López, Johan E., Isabel Suárez, David A. Pineda, Martha L. Cervantes-Henríquez, Martha L. Martínez-Banfi, Semiramis G. Lozano-Gutiérrez, Mostapha Ahmad, et al. "Impulsive and Omission Errors: Potential Temporal Processing Endophenotypes in ADHD." Brain Sciences 11, no. 9 (September 15, 2021): 1218. http://dx.doi.org/10.3390/brainsci11091218.

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Temporal processing (TP) is associated with functions such as perception, verbal skills, temporal perspective, and future planning, and is intercorrelated with working memory, attention, and inhibitory control, which are highly impaired in individuals with attention deficit hyperactivity disorder (ADHD). Here we evaluate TP measures as potential endophenotypes in Caribbean families ascertained from probands affected by ADHD. A total of 232 individuals were recruited and clinically evaluated using an extensive battery of neuropsychological tasks and reaction time (RT)-based task paradigms. Further, the heritability (genetic variance underpinning phenotype) was estimated as a measure of the genetics apportionment. A predictive framework for ADHD diagnosis was derived using these tasks. We found that individuals with ADHD differed from controls in neuropsychological tasks assessing mental control, visual-verbal memory, verbal fluency, verbal, and semantic fluency. In addition, TP measures such as RT, errors, and variability were also affected in individuals with ADHD. Moreover, we determined that only omission and commission errors had significant heritability. In conclusion, we have disentangled omission and commission errors as possible TP endophenotypes in ADHD, which can be suitable to assess the neurobiological and genetic basis of ADHD. A predictive model using these endophenotypes led to remarkable sensitivity, specificity, precision and classification rate for ADHD diagnosis, and may be a useful tool for patients’ diagnosis, follow-up, and longitudinal assessment in the clinical setting.
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