共查询到20条相似文献，搜索用时 0 毫秒
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Jessica E. Salvatore Shizhong Han Sean P. Farris Kristin M. Mignogna Michael F. Miles Arpana Agrawal 《Addiction biology》2019,24(2):275-289
Alcohol use disorder (AUD) is a heritable complex behavior. Due to the highly polygenic nature of AUD, identifying genetic variants that comprise this heritable variation has proved to be challenging. With the exception of functional variants in alcohol metabolizing genes (e.g. ADH1B and ALDH2), few other candidate loci have been confidently linked to AUD. Genome‐wide association studies (GWAS) of AUD and other alcohol‐related phenotypes have either produced few hits with genome‐wide significance or have failed to replicate on further study. These issues reinforce the complex nature of the genetic underpinnings for AUD and suggest that both GWAS studies with larger samples and additional analysis approaches that better harness the nominally significant loci in existing GWAS are needed. Here, we review approaches of interest in the post‐GWAS era, including in silico functional analyses; functional partitioning of single nucleotide polymorphism heritability; aggregation of signal into genes and gene networks; and validation of identified loci, genes and gene networks in postmortem brain tissue and across species. These integrative approaches hold promise to illuminate our understanding of the biological basis of AUD; however, we recognize that the main challenge continues to be the extremely polygenic nature of AUD, which necessitates large samples to identify multiple loci associated with AUD liability. 相似文献
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Protein post‐translational modifications (PTMs) allow the cell to regulate protein activity and play a crucial role in the response to changes in external conditions or internal states. Advances in mass spectrometry now enable proteome wide characterization of PTMs and have revealed a broad functional role for a range of different types of modifications. Here we review advances in the study of the evolution and function of PTMs that were spurred by these technological improvements. We provide an overview of studies focusing on the origin and evolution of regulatory enzymes as well as the evolutionary dynamics of modification sites. Finally, we discuss different mechanisms of altering protein activity via post‐translational regulation and progress made in the large‐scale functional characterization of PTM function. 相似文献
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Bruining H Swaab H de Sonneville LM van Rijn S van Engeland H Kas MJ 《Genes, Brain & Behavior》2011,10(6):658-662
The behavioral characterization of animals that carry genetic disorder abnormalities in a controlled genetic and environmental background may be used to identify human deficits that are significant to understand underlying neurobiological mechanisms. Here, we studied whether previously reported object recognition impairments in mice with a supernumerary X chromosome relate to specific cognitive deficits in Klinefelter syndrome (47,XXY). We aimed to optimize face validity by studying temporal object recognition in human cognitive assays. Thirty-four boys with Klinefelter syndrome (mean age 12.01) were compared with 90 age-matched normal controls, on a broad range of visual object memory tasks, including tests for pattern and temporal order discrimination. The results indicate that subjects with Klinefelter syndrome have difficulty in the processing of visual object and pattern information. Visual object patterns seem difficult to discriminate especially when temporal information needs to be processed and reproduced. On the basis of cross-species comparison, we propose that impaired temporal processing of object pattern information is an important deficit in Klinefelter syndrome. The current study shows how cross-species behavioral characterization may be used as a starting point to understand the neurobiology of syndromal phenotypic expression. The features of this study may serve as markers for interventions in Klinefelter syndrome. Similar cross-species evaluations of standard mouse behavioral paradigms in different genetic contexts may be powerful tools to optimize genotype-phenotype relationships. 相似文献
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E. CREMER S. LIEPELT F. SEBASTIANI A. BUONAMICI I. M. MICHALCZYK B. ZIEGENHAGEN G. G. VENDRAMIN 《Molecular ecology resources》2006,6(2):374-376
Eleven polymorphic nuclear microsatellite markers for Abies alba Mill. were developed from an enriched genomic library. An average of 5.2 alleles per locus and a mean expected heterozygosity of 0.532 were found in a sample of 24 Abies alba individuals from different populations within Europe. These loci can be used in studies of genetic diversity for parentage analysis and for estimation of gene flow in silver fir populations. Moreover, successful amplifications were obtained for eight other Mediterranean Abies species, suggesting that these loci may be useful for similar applications in other fir species. 相似文献
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For studies of population differentiation and range expansion in the seaside goldenrod, Solidago sempervirens, we identified hypervariable molecular markers by screening genomic libraries enriched for microsatellite motifs. We designed primers that reliably amplified nine polymorphic loci. High polymorphism in a population from Delaware Bay, USA suggests that the loci will be useful in population studies. The success of cross‐amplifications in 11 species of Asteraceae varied among loci and did not appear to reflect phylogenetic relationships within Solidago. 相似文献
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TINA KYNDT ANNELIES HAEGEMAN SABINE VAN GLABEKE INGE MAERTENS BART VAN DROOGENBROECK ISABEL ROLDN‐RUIZ GODELIEVE GHEYSEN 《Molecular ecology resources》2005,5(3):590-592
Nine polymorphic microsatellite loci were identified in the tropical plant Vasconcellea ×heilbornii and used to estimate allelic diversity in two populations of southern Ecuador. Allelic richness ranged from two to five alleles, observed heterozygosity ranged from 0.150 to 0.947 and expected heterozygosity ranged from 0.186 to 0.701. Most of these markers also amplified microsatellite loci in two other Vasconcellea species (Vasconcellea stipulata and Vasconcellea cundinamarcensis). Hence, these markers will be useful for population genetic analysis and the evaluation of genetic diversity and gene flow in these species. 相似文献
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The superfamily Macropodoidea consists of two families - the Macropodidae and Potoroidae. Cross-species amplification and polymorphism of microsatellite loci is widely recognized within the macropodid family; however, the success of macropodid loci in potoroid species has not been as widely published. In this study, we tested the amplification and polymorphism of 17 cross-species microsatellite loci isolated from macropodids and potoroids in Bettongia lesueur (a potoroid). Success varied between loci and was not predicted by genetic distance from the species of isolation. 相似文献
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Trenton W. J. Garner Benedikt R. Schmidt Paquita Hoeck Josh Van Buskirk 《Molecular ecology resources》2003,3(2):186-188
We developed a set of di‐ and tetranucleotide microsatellite markers for the Alpine newt, Triturus alpestris. Polymorphism as detected in 39 individuals ranged from 3 to 32 alleles at a locus. Cross‐priming with samples of five other Triturus species showed extremely poor levels of cross‐species utility. Still, these markers are suitable for studies of inter‐ and intrapopulation genetic diversity in the focal species. 相似文献
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A. A. Augustinos E. E. Stratikopoulos A. Zacharopoulou K. D. Mathiopoulos 《Molecular ecology resources》2002,2(3):278-280
Bactrocera oleae is the single most important insect pest of the olive fruit, causing extensive of the losses in the olive production annually. Nonetheless, there has never been an analysis of the homogeneity of B. oleae populations, the extent of gene flow, the genetic differentiation and/or reproductive isolation of marginal populations or the nature of the invasive populations in newly established olive tree cultivations. Here we describe the development of 10 novel polymorphic microsatellite markers that can be used in the analysis of natural B. oleae populations as well as to create a basis for its genome analysis. 相似文献
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Malhi RS Trask JS Shattuck M Johnson J Chakraborty D Kanthaswamy S Ramakrishnan U Smith DG 《American journal of primatology》2011,73(10):1031-1040
The development of DNA markers is becoming increasingly useful in the field of primatology for studies on paternity, population history, and biomedical research. In this study, we determine the efficacy of using cross-species amplification to identify single nucleotide polymorphisms (SNPs) in closely related species. The DNA of 93 individuals representing seven Old World Monkey species was analyzed to identify SNPs using cross-species amplification and genotyping. The loci genotyped were 653 SNPs identified and validated in rhesus macaques. Of the 653 loci analyzed, 27% were estimated to be polymorphic in the samples studied. SNPs identified at the same locus among different species (coincident SNPs) were found in six of the seven species studied with longtail macaques exhibiting the highest number of coincident SNPs (84). The distribution of coincident SNPs among species is not biased based on proximity to genes in the samples studied. In addition, the frequency of coincident SNPs is not consistent with expectations based on their phylogenetic relationships. This study demonstrates that cross-species amplification and genotyping using the Illumina Golden Gate Array is a useful method to identify a large number of SNPs in closely related species, although issues with ascertainment bias may limit the type of studies where this method can be applied. 相似文献
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Previous studies, mostly in European populations, found sex differences in the pattern of deciduous tooth emergence. Most studies find that the anterior dentition in males is precocial relative to the female dentition, and the pattern reverses so that females lead males in the emergence of the posterior deciduous dentition. Less is known about sex differences in the dental development and emergence of non-European populations. Here we examine the pattern of sex differences in deciduous tooth emergence in Japanese, Javanese, Guatemalan, and Bangladeshi children. The data come from four longitudinal or mixed longitudinal studies using similar study protocols. Survival analysis was used to estimate parameters of a log-normal distribution of emergence for each of the 10 teeth of the left dentition, and sexual dimorphism was assessed by sex-specific differences in mean emergence times and by Bennett's index. The results support the pattern of developmental cross-over observed in other populations. We conclude that there is little evidence to support the hypothesis of Tanguay et al. ([1984] J. Dent. Res. 63:65-68) that ethnic factors mediate sex differences in the emergence of deciduous teeth. 相似文献
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The Fucaceae is a family of brown seaweeds that dominate and frequently co‐occur on North Atlantic rocky shores. We developed nine polymorphic microsatellite markers for the fucoid seaweeds Fucus vesiculosus, F. serratus and Ascophyllum nodosum using a combined, enriched library. Six of these loci were polymorphic in at least two species, showing from two to eight alleles with heterozygosities ranging from 0.41 to 0.85. Loci were also tested on F. spiralis, revealing five polymorphic microsatellite loci in this species. 相似文献
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M. JAAROLA M. RATKIEWICZ R. T. ASHFORD C. BRUNHOFF A. BORKOWSKA 《Molecular ecology resources》2007,7(6):1029-1031
We developed nine polymorphic microsatellite loci for the field vole, Microtus agrestis. The number of alleles ranged from five to 15 and observed heterozygosities ranged from 0.40 to 1.00. We also tested the microsatellite loci for amplification and polymorphism in the congeneric species Microtus arvalis. Five of the nine loci were successfully analysed in this species. The microsatellite markers will be employed in studies of reproductive success and fine‐scale spatial genetic structure. 相似文献
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Yang YS Ahn TH Lee JC Moon CJ Kim SH Park SC Chung YH Kim HY Kim JC 《Birth defects research. Part B, Developmental and reproductive toxicology》2007,80(5):374-382
This study investigated the potential adverse effects of tert-butyl acetate (TBAc) on maternal toxicity and embryo-fetal development after maternal exposure of pregnant rats from gestational days 6 through 19. TBAc was administered to pregnant rats by gavage at 0, 400, 800, and 1,600 mg/kg/day. All dams were subjected to a Caesarean section on day 20 of gestation, and their fetuses were examined for any morphological abnormalities. At 1,600 mg/kg, maternal toxicity manifested as increases in the incidence of clinical signs and death, lower body weight gain and food intake, increases in the weights of adrenal glands and liver, and a decrease in thymus weight. Developmental toxicity included a decrease in fetal weight, an increase in the incidence of skeletal variation, and a delay in fetal ossification. At 800 mg/kg, only a minimal developmental toxicity, including an increase in the incidence of skeletal variation and a delay in fetal ossification, were observed. In contrast, no adverse maternal or developmental effects were observed at 400 mg/kg. These results show that a 14-day repeated oral dose of TBAc is embryotoxic at a maternally toxic dose (i.e., 1,600 mg/kg/day) and is minimally embryotoxic at a nonmaternally toxic dose (i.e., 800 mg/kg/day) in rats. However, no evidence for the teratogenicity of TBAc was noted in rats. It is concluded that the developmental findings observed in the present study are secondary effects to maternal toxicity. Under these experimental conditions, the no-observed-adverse-effect level of TBAc is considered to be 800 mg/kg/day for dams and 400 mg/kg/day for embryo-fetal development. 相似文献
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The subfamily Serrasalminae (Characidae, Teleostei) is an endemic Neotropical group of fishes distributed along the Amazon, Paraná‐Paraguay and Orinoco Basins. The pacu (Piaractus mesopotamicus) is found in all major rivers that comprise the Pantanal of Mato Grosso. In order to investigate population genetic structure within the group, an enriched microsatellite library was constructed. Eight polymorphic were loci screened, with an average of 6.5 alleles per locus. Five loci exhibited greater than 60% heterozygosity. Additionally, a high level of cross‐species amplification was obtained. 相似文献
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Solms-laubachia eurycarpa is a medicinal herb endemic to the Hengduan Mountains region of south-central China. We screened a partial genomic library enriched for microsatellites and characterized 10 polymorphic loci for S. eurycarpa. The number of alleles per locus ranged from five to 15, with an average of 9.6. The observed and expected heterozygosities ranged from 0.2 to 0.725 and from 0.585 to 0.871, respectively. Amplification in closely related taxa was successful for most loci. The results indicate significant potential for the utility of these markers in studying the population genetics of S. eurycarpa and related species. 相似文献
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We report the isolation and characterization of polymorphic microsatellite loci for the Siberian flying squirrel Pteromys volans. The seven most useful loci had between six and 11 alleles and expected heterozygosities ranging from 0.477 to 0.866. We also tested the utility of these loci in other squirrel species, northern flying squirrels (Glaucomys sabrinus and G. volans) and the common red squirrel (Sciurus vulgaris). Three of the Siberian flying squirrel loci were polymorphic in other squirrel species, suggesting a limited potential for cross‐species use. 相似文献