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1.
Benjamin B. Lahey Tyler M. Moore Antonia N. Kaczkurkin David H. Zald 《World psychiatry》2021,20(1):57-63
There is an ongoing revolution in psychology and psychiatry that will likely change how we conceptualize, study and treat psychological problems. Many theorists now support viewing psychopathology as consisting of continuous dimensions rather than discrete diagnostic categories. Indeed, recent papers have proposed comprehensive taxonomies of psychopathology dimensions to replace the DSM and ICD taxonomies of categories. The proposed dimensional taxonomies, which portray psychopathology as hierarchically organized correlated dimensions, are now well supported at phenotypic levels. Multiple studies show that both a general factor of psychopathology at the top of the hierarchy and specific factors at lower levels predict different functional outcomes. Our analyses of data on a large representative sample of child and adolescent twins suggested the causal hypothesis that phenotypic correlations among dimensions of psychopathology are the result of many familial influences being pleiotropic. That is, most genetic variants and shared environmental factors are hypothesized to non‐specifically influence risk for multiple rather than individual dimensions of psychopathology. In contrast, person‐specific experiences tend to be related to individual dimensions. This hierarchical causal hypothesis has been supported by both large‐scale family and molecular genetic studies. Current research focuses on three issues. First, the field has not settled on a preferred statistical model for studying the hierarchy of causes and phenotypes. Second, in spite of encouraging progress, the neurobiological correlates of the hierarchy of dimensions of psychopathology are only partially described. Third, although there are potentially important clinical implications of the hierarchical model, insufficient research has been conducted to date to recommend evidence‐based clinical practices. 相似文献
2.
Kazunari Sekiyama Yoshiki TakamatsuMasaaki Waragai Makoto Hashimoto 《Biochemical and biophysical research communications》2014
Research on Parkinson’s disease (PD) has made remarkable progress in recent decades, due largely to new genomic technologies, such as high throughput sequencing and microarray analyses. Since the discovery of a linkage of a missense mutation of the α-synuclein (αS) gene to a rare familial dominant form of PD in 1996, positional cloning and characterization of a number of familial PD risk factors have established a hypothesis that aggregation of αS may play a major role in the pathogenesis of PD. Furthermore, dozens of sensitizing alleles related to the disease have been identified by genome wide association studies (GWAS) and meta-GWAS, contributing to a better understanding of the pathological mechanisms of sporadic PD. Thus, the knowledge obtained from the association studies will be valuable for “the personal genome” of PD. Besides summarizing such progress, this paper focuses on the role of microRNAs in the field of PD research, since microRNAs might be promising as a biomarker and as a therapeutic reagent for PD. We further refer to a recent view that neurodegenerative diseases, including PD, coexist with metabolic disorders and are stimulated by type II diabetes, the most common disease among elderly populations. The development of genomic approaches may potentially contribute to therapeutic intervention for PD. 相似文献
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Dissection of the genetic architecture of three seed‐quality traits and consequences for breeding in Brassica napus
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Bo Wang Zhikun Wu Zhaohong Li Qinghua Zhang Jianlin Hu Yingjie Xiao Dongfang Cai Jiangsheng Wu Graham J. King Haitao Li Kede Liu 《Plant biotechnology journal》2018,16(7):1336-1348
Genome‐wide association studies (GWASs) combining high‐throughput genome resequencing and phenotyping can accelerate the dissection of genetic architecture and identification of genes for plant complex traits. In this study, we developed a rapeseed genomic variation map consisting of 4 542 011 SNPs and 628 666 INDELs. GWAS was performed for three seed‐quality traits, including erucic acid content (EAC), glucosinolate content (GSC) and seed oil content (SOC) using 3.82 million polymorphisms in an association panel. Six, 49 and 17 loci were detected to be associated with EAC, GSC and SOC in multiple environments, respectively. The mean total contribution of these loci in each environment was 94.1% for EAC and 87.9% for GSC, notably higher than that for SOC (40.1%). A high correlation was observed between phenotypic variance and number of favourable alleles for associated loci, which will contribute to breeding improvement by pyramiding these loci. Furthermore, candidate genes were detected underlying associated loci, based on functional polymorphisms in gene regions where sequence variation was found to correlate with phenotypic variation. Our approach was validated by detection of well‐characterized FAE1 genes at each of two major loci for EAC on chromosomes A8 and C3, along with MYB28 genes at each of three major loci for GSC on chromosomes A9, C2 and C9. Four novel candidate genes were detected by correlation between GSC and SOC and observed sequence variation, respectively. This study provides insights into the genetic architecture of three seed‐quality traits, which would be useful for genetic improvement of B. napus. 相似文献
5.
Kai P. Voss‐Fels Lunwen Qian Sebastian Parra‐Londono Ralf Uptmoor Matthias Frisch Gabriel Keeble‐Gagnère Rudi Appels Rod J. Snowdon 《Plant, cell & environment》2017,40(5):717-725
Roots, the hidden half of crop plants, are essential for resource acquisition. However, knowledge about the genetic control of below‐ground plant development in wheat, one of the most important small‐grain crops in the world, is very limited. The molecular interactions connecting root and shoot development and growth, and thus modulating the plant's demand for water and nutrients along with its ability to access them, are largely unexplored. Here, we demonstrate that linkage drag in European bread wheat, driven by strong selection for a haplotype variant controlling heading date, has eliminated a specific combination of two flanking, highly conserved haplotype variants whose interaction confers increased root biomass. Reversing this inadvertent consequence of selection could recover root diversity that may prove essential for future food production in fluctuating environments. Highly conserved synteny to rice across this chromosome segment suggests that adaptive selection has shaped the diversity landscape of this locus across different, globally important cereal crops. By mining wheat gene expression data, we identified root‐expressed genes within the region of interest that could help breeders to select positive variants adapted to specific target soil environments. 相似文献
6.
Dissection of the genetic architecture of rice resistance to the blast fungus Magnaporthe oryzae 总被引:1,自引:0,他引:1
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Houxiang Kang Yue Wang Shasha Peng Yanli Zhang Yinghui Xiao Dan Wang Shaohong Qu Zhiqiang Li Shuangyong Yan Zhilong Wang Wende Liu Yuese Ning Pavel Korniliev Hei Leung Jason Mezey Susan R. McCouch Guo‐Liang Wang 《Molecular Plant Pathology》2016,17(6):959-972
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Emma C. Johnson Jessica E. Salvatore Dongbing Lai Alison K. Merikangas John I. Nurnberger Jay A. Tischfield Xiaoling Xuei Chella Kamarajan Leah Wetherill COGA Collaborators John P. Rice John R. Kramer Samuel Kuperman Tatiana Foroud Paul A. Slesinger Alison M. Goate Bernice Porjesz Danielle M. Dick Howard J. Edenberg Arpana Agrawal 《Genes, Brain & Behavior》2023,22(5):e12856
This review describes the genetic approaches and results from the family-based Collaborative Study on the Genetics of Alcoholism (COGA). COGA was designed during the linkage era to identify genes affecting the risk for alcohol use disorder (AUD) and related problems, and was among the first AUD-focused studies to subsequently adopt a genome-wide association (GWAS) approach. COGA's family-based structure, multimodal assessment with gold-standard clinical and neurophysiological data, and the availability of prospective longitudinal phenotyping continues to provide insights into the etiology of AUD and related disorders. These include investigations of genetic risk and trajectories of substance use and use disorders, phenome-wide association studies of loci of interest, and investigations of pleiotropy, social genomics, genetic nurture, and within-family comparisons. COGA is one of the few AUD genetics projects that includes a substantial number of participants of African ancestry. The sharing of data and biospecimens has been a cornerstone of the COGA project, and COGA is a key contributor to large-scale GWAS consortia. COGA's wealth of publicly available genetic and extensive phenotyping data continues to provide a unique and adaptable resource for our understanding of the genetic etiology of AUD and related traits. 相似文献
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Havard Attramadal Sushanta K. Banerjee Brahim Chaqour Gary Fisher Lester Lau Bernard Perbal Ulf Smith Herman Yeger 《Journal of cell communication and signaling》2023,17(1):7
In celebration of the twentieth anniversary of the inception of the CCN society, and of the first post-Covid-19 live meeting, the executive board of the ICCNS had chosen Nice as the venue for the 11th International workshop on the CCN family of genes. On this occasion participation in the meeting was extended to colleagues from other cell signaling fields who were invited to present both an overview of their work and the future directions of their laboratory. Also, for the first time, the members of the JCCS Editorial Board were invited to participate in a JCCS special session during which all aspects of the journal « life » were addressed and opened to free critical discussion. The scientific presentations and the discussions that followed showed once more that an expansion of the session topics was beneficial to the quality of the meeting and confirmed that the ARBIOCOM project discussed last April in Nice was now on track to be launched in 2023. The participants unanimously welcomed Professor Attramadal’s proposition to organize the 2024, 12th International CCN workshop in Oslo, Norway. 相似文献
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Chao Shen Nian Wang Cong Huang Maojun Wang Xianlong Zhang Zhongxu Lin 《The Plant journal : for cell and molecular biology》2019,99(3):494-505
Recombination breaks up ancestral linkage disequilibrium, creates combinations of alleles, affects the efficiency of natural selection, and plays a major role in crop domestication and improvement. However, there is little knowledge regarding the variation in the population‐scaled recombination rate in cotton. We constructed recombination maps and characterized the difference in the genomic landscape of the population‐scaled recombination rate between Gossypium hirsutum and G. arboreum and sub‐genomes based on the 381 sequenced G. hirsutum and 215 G. arboreum accessions. Comparative genomics identified large structural variations and syntenic genes in the recombination regions, suggesting that recombination was related to structural variation and occurred preferentially in the distal chromosomal regions. Correlation analysis indicated that recombination was only slightly affected by geographical distribution and breeding period. A genome‐wide association study (GWAS) was performed with 15 agronomic traits using 267 cotton accessions and identified 163 quantitative trait loci (QTL) and an important candidate gene (Ghir_COL2) for early maturity traits. Comparative analysis of recombination and a GWAS revealed that the QTL of fibre quality traits tended to be more common in high‐recombination regions than were those of yield and early maturity traits. These results provide insights into the population‐scaled recombination landscape, suggesting that recombination contributed to the domestication and improvement of cotton, which provides a useful reference for studying recombination in other species. 相似文献
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Ineta Kalnina Linda Zaharenko Iveta Vaivade Vita Rovite Liene Nikitina-Zake Raitis Peculis Davids Fridmanis Kristine Geldnere Josefin A. Jacobsson Markus S. Almen Valdis Pirags Helgi B. Schiöth Janis Klovins 《Gene》2013
Variations in the FTO gene and near the TMEM18 gene are risk factors for common form of obesity, but have also been linked with type 2 diabetes (T2D). Our aim was to investigate the contribution of these variants to risk of T2D in a population in Latvia. Four single nucleotide polymorphisms (SNP) in the first and fourth intronic regions of FTO and one close to TMEM18 were genotyped in 987 patients with T2D and 1080 controls selected from the Latvian Genome Data Base (LGDB). We confirmed association of SNPs in the first intron (rs11642015, rs62048402 and rs9939609) of FTO and rs7561317 representing the TMEM18 locus with T2D. Association between SNP in FTO and T2D remained significant after correction for body mass index (BMI). The rs57103849 located in the fourth intron of FTO and rs7561317 in TMEM18 showed BMI independent association with younger age at diagnosis of T2D. Our results add to the evidence that BMI related variants in and near FTO and TMEM18 may increase the risk for T2D not only through secondary effects of obesity. The influence of variants in the fourth intron of the FTO gene on development of T2D may be mediated by mechanisms other than those manifested by SNPs in the first intron of the same gene. 相似文献