Inflammatory bowel disease(IBD) results from a complex series of interactions between susceptibility genes, the environment, and the immune system.Recently, some studies provided strong evidence that the process of au...Inflammatory bowel disease(IBD) results from a complex series of interactions between susceptibility genes, the environment, and the immune system.Recently, some studies provided strong evidence that the process of autophagy affects several aspects of mucosal immune responses. Autophagy is a cellular stress response that plays key roles in physiological processes, such as innate and adaptive immunity, adaptation to starvation, degradation of aberrant proteins or organelles, antimicrobial defense, and protein secretion. Dysfunctional autophagy is recognized as a contributing factor in many chronic inflammatory diseases, including IBD. Autophagy plays multiple roles in IBD pathogenesis by altering processes that include intracellular bacterial killing, antimicrobial peptide secretion by Paneth cells, goblet cell function, proinflammatory cytokine production by macrophages, antigen presentation by dendritic cells, and the endoplasmic reticulum stress response in enterocytes. Recent studies have identified susceptibility genes involved in autophagy, such as NOD2, ATG16L1, and IRGM, and active research is ongoing all over the world. The aim of this review is a systematic appraisal of the current literature to provide a better understanding of the role of autophagy in the pathogenesis of IBD. Understanding these mechanisms will bring about new strategies for the treatment and prevention of IBD.展开更多
银屑病是一种常见的免疫异常性增殖性皮肤病。临床特征为皮肤表面履盖大量厚实的鳞屑性斑片。虽然已有大量家族性研究资料表明银屑病的发病存在着遗传因素,但是该病的遗传模式至今尚不清楚。大量研究表明:复杂性疾病的遗传学研究除了MH...银屑病是一种常见的免疫异常性增殖性皮肤病。临床特征为皮肤表面履盖大量厚实的鳞屑性斑片。虽然已有大量家族性研究资料表明银屑病的发病存在着遗传因素,但是该病的遗传模式至今尚不清楚。大量研究表明:复杂性疾病的遗传学研究除了MHC的一些位点的相关结果比较恒定外,绝大多数的研究结果变异较大。全基因组关联分析(genome-wide association study,GWAS)是一种对全基因组范围内的常见遗传变异(单核苷酸多态性和拷贝数变异)进行总体关联分析的方法,在全基因组范围内进行整体研究,能够一次性对疾病进行轮廓性概览,适用于包括银屑病在内的复杂疾病的研究。运用全基因组关联分析对银屑病进行的三个研究,刊登在今年2月的《自然-遗传学》杂志,结果发现了几个银屑病的遗传学易感位点,提示在免疫学和其它领域的几个信号通路可能参与了该病的发病机制。无论是以往的关联研究还是现在的全基因组关联分析研究,均提示银屑病与涉及人类免疫性疾病的免疫反应的MHC位点(如HLA-Cw6和其他MHC变异位点)紧密相关。还有两个与银屑病高度相关的与炎症反应密切关联的非MHC基因(IL-12B和IL23R),也在银屑病的发病机制中起着重要作用。最近运用抗IL-12p40的生物制剂有效治疗银屑病的临床试验,进一步证实了IL-12/23在银屑病病理生理过程中关键作用。在中国人群中进行了银屑病易感基因的GWAS研究发现:位于1q21上的晚期角质化包膜(late cornified envelope,LCE)基因簇中LCE3A和LCE3D的区域异常与银屑病显著性相关。与此同时,国际上另一个研究小组对西班牙、荷兰、意大利和美国人群中进行的银屑病易感基因的GWAS研究发现,LCE基因簇中LCE3B和LCE3C区域的缺失与银屑病显著性相关。这些相互独立的研究有力地证实LCE基因参与银屑病的发病。到目前为止,虽然已经有了一展开更多
Receptor-like cytoplasmic kinases （RLCKs） in plants belong to the super family of receptor-like kinases （RLKs）. These proteins show homology to RLKs in kinase domain but lack the transmembrane domain. Some of the ...Receptor-like cytoplasmic kinases （RLCKs） in plants belong to the super family of receptor-like kinases （RLKs）. These proteins show homology to RLKs in kinase domain but lack the transmembrane domain. Some of the functionally characterized RLCKs from plants have been shown to play roles in development and stress responses. Previously, 149 and 187 RLCK encoding genes were identified from Arabidopsis and rice, respectively. By using HMM-based domain structure and phylogenetic relationships, we have identified 379 OsRLCKs from rice. OsRLCKs are distributed on all 12 chromosomes of rice and some members are located on duplicated chromosomal segments. Several OsRLCKs probably also undergo alternative splicing, some having evidence only in the form of gene models. To understand their possible functions, expression patterns during landmark stages of vegetative and reproductive development as well as abiotic and biotic stress using microarray and MPSS-based data were analyzed. Real-time PCR-based expression profiling for a selected few genes confirmed the outcome of microarray analysis. Differential expression patterns observed for majority of OsRLCKs during development and stress suggest their involvement in diverse functions in rice. Majority of the stress-responsive OsRLCKs were also found to be localized within mapped regions of abiotic stress QTLs. Outcome of this study would help in selecting organ/development stage specific OsRLCK genes/targets for functional validation studies.展开更多
Transcription factors （TFs） are important regulators of gene expression. To better understand TFencoding genes in maize （Zea mays L.）, a genome-wide TF prediction was performed using the updated B73 reference geno...Transcription factors （TFs） are important regulators of gene expression. To better understand TFencoding genes in maize （Zea mays L.）, a genome-wide TF prediction was performed using the updated B73 reference genome. A total of 2 298 TF genes were identified, which can be classified into 56 families. The largest family, known as the MYB superfamily, comprises 322 MYB and MYB-related TF genes. The expression patterns of 2014 （87.64%） TF genes were examined using RNA-seq data, which resulted in the identification of a subset of TFs that are specifically expressed in particular tissues （including root, shoot, leaf, ear, tassel and kernel）. Similarly, 98 kernel-specific TF genes were further analyzed, and it was observed that 29 of the kernel-specific genes were preferentially expressed in the early kernel developmental stage, while 69 of the genes were expressed in the late kernel developmental stage. Identification of these TFs, particularly the tissue-specific ones, provides important information for the understanding of development and transcriptional regulation of maize.展开更多
Watermelon,Citrullus lanatus,is the world's third largest fruit crop.Reference genomes with gaps and a narrow genetic base hinder functional genomics and genetic improvement of watermelon.Here,we report the assemb...Watermelon,Citrullus lanatus,is the world's third largest fruit crop.Reference genomes with gaps and a narrow genetic base hinder functional genomics and genetic improvement of watermelon.Here,we report the assembly of a telomere-to-telomere gap-free genome of the elite watermelon inbred line G42 by incorporating high-coverage and accurate long-read sequencing data with multiple assembly strategies.All 11 chromosomes have been assembled into single-contig pseudomolecules without gaps,representing the highest completeness and assembly quality to date.The G42 reference genome is 369321829 bp in length and contains 24205 predicted protein-coding genes,with all 22 telomeres and 11 centromeres characterized.Furthermore,we established a pollen-EMS mutagenesis protocol and obtained over 200000M1 seeds from G42.In a sampling pool,48 monogenic phenotypic mutations,selected from 223M1and 78 M2 mutants with morphological changes,were confirmed.The average mutation density was 1 SNP/1.69Mband1 indel/4.55 Mb per M1 plant and 1SNP/1.08Mb and 1 indel/6.25 Mb per M2 plant.Taking advantage of the gap-free G42 genome,8039 mutations from 32 plants sampled from M1 and M2 families were identified with 100%accuracy,whereas only 25% of the randomly selected mutations identified using the 97103v2 reference genome could be confirmed.Using this library and the gap-free genome,two genes responsible for elongated fruit shape and male sterility(CiMs1)were identified,both caused by a single basechange from G to A.The validated gap-free genome and its EMS mutation library provide invaluable resources for functional genomics and genetic improvement of watermelon.展开更多
Type 2 diabetes mellitus(T2DM) is a complex disease in which both genetic and environmental factors interact in determining impaired β-cell insulin secretion and peripheral insulin resistance. Insulin resistance in m...Type 2 diabetes mellitus(T2DM) is a complex disease in which both genetic and environmental factors interact in determining impaired β-cell insulin secretion and peripheral insulin resistance. Insulin resistance in muscle, liver and fat is a prominent feature of most patients with T2DM and obesity, resulting in a reduced response of these tissues to insulin. Considerable evidence has been accumulated to indicate that heredity is a major determinant of insulin resistance and T2DM. It is believed that, among individuals destined to develop T2DM, hyperinsulinemia is the mechanism by which the pancreatic β-cell initially compensates for deteriorating peripheral insulin sensitivity, thus ensuring normal glucose tolerance. Most of these people will develop T2DM when β-cells fail to compensate. Despite the progress achieved in this field in recent years, the genetic causes of insulin resistance and T2DM remain elusive.Candidate gene association, linkage and genome-wide association studies have highlighted the role of genetic factors in the development of T2DM. Using these strategies, a large number of variants have been identified in many of these genes, most of which may influence both hepatic and peripheral insulin resistance, adipogenesis and β-cell mass and function. Recently, a new gene has been identified by our research group, the HMGA1 gene, whose loss of function can greatly raise the risk of developing T2DM in humans and mice. Functional genetic variants of the HMGA1 gene have been associated with insulin resistance syndromes among white Europeans, Chinese individuals and Americans of Hispanic ancestry. These findings may represent new ways to improve or even prevent T2DM.展开更多
Ginseng(Panax ginseng C.A. Meyer) is one of the best-selling herbal medicines, with ginsenosides as its main pharmacologically active constituents. Although extensive chemical and pharmaceutical studies of these compo...Ginseng(Panax ginseng C.A. Meyer) is one of the best-selling herbal medicines, with ginsenosides as its main pharmacologically active constituents. Although extensive chemical and pharmaceutical studies of these compounds have been performed, genome-wide studies of the basic helix-loop-helix(b HLH) transcription factors of ginseng are still limited. The b HLH transcription factor family is one of the largest transcription factor families found in eukaryotic organisms, and these proteins are involved in a myriad of regulatory processes. In our study, 169 bHLH transcription factor genes were identified in the genome of P. ginseng, and phylogenetic analysis indicated that these PGb HLHs could be classified into 24 subfamilies. A total of 21 RNA-seq data sets, including two sequencing libraries for jasmonate(JA)-responsive and 19 reported libraries for organ-specific expression analyses were constructed. Through a combination of gene-specific expression patterns and chemical contents,6 PGbHLH genes from 4 subfamilies were revealed to be potentially involved in the regulation of ginsenoside biosynthesis. These 6 PGbHLHs, which had distinct target genes, were further divided into two groups depending on the absence of MYC-N structure. Our results would provide a foundation for understanding the molecular basis and regulatory mechanisms of bHLH transcription factor action in P.ginseng.展开更多
Prostate cancer （PCa） research in China has been on a rocketing trend in recent years. The first genome-wide association study （GWAS） in China identified two new PCa risk associated single nucleotide polymorphisms...Prostate cancer （PCa） research in China has been on a rocketing trend in recent years. The first genome-wide association study （GWAS） in China identified two new PCa risk associated single nucleotide polymorphisms （SNPs）. Next generation sequencing is beginning to be used, yielding novel findings： gene fusions, long non-coding RNAs and other variations. Mechanisms of PCa progression have been illustrated while various diagnosis biomarkers have been investigated extensively. Personalized therapy based on genetic factors, nano-medicine and traditional Chinese medicine has been the focus of experimental therapeutic research for PCa. This review intends to shed light upon the recent progress in PCa research in China and points out the possible breakthroughs in the future.展开更多
Anopheles sinensis is a major malaria vector. Insect odorant-binding proteins （OBPs） may function in the reception of odorants in the olfactory system. The classification and characterization of the An. sinensis OBP...Anopheles sinensis is a major malaria vector. Insect odorant-binding proteins （OBPs） may function in the reception of odorants in the olfactory system. The classification and characterization of the An. sinensis OBP genes have not been systematically studied. In this study, 64 putative OBP genes were identified at the whole-genome level of An. sinensis based on the comparison between OBP conserved motifs, PBP_GOBE and phylogenetic analysis with An. gambiae OBPs. The characterization of An. sinensis OBPs, including the motifs conservation, gene structure, genomic organization and classification, were investigated. A new gene, AsOBP73, belonging to the Plus-C subfamily, was identified with the support of transcript and conservative motifs. These An. sinensis OBP genes were classified into three subfamilies with 37, 15 and 12 genes in the subfamily Classic, Atypical and Plus-C, respectively. The genomic organization of An. sinensis OBPs suggests a clustered distribution across nine different scaffolds. Eight genes （0BP23-28, 0BP63- 64） might originate from a single gene through a series of historic duplication events at least before divergence of Anopheles, Culex and Aedes. The microsynteny analyses indicate a very high synteny between An. sinensis and An. gambiae OBPs. OBP70 and OBP71 earlier classified under Plus-C in An. gambiae are recognized as belonging to the group Obp59a of the Classic subfamily, and OBP69 earlier classified under Plus-C has been moved to the Atypical subfamily in this study. The study established a basic information frame for further study of the OBP genes in insects as well as in An. sinensis.展开更多
Atherosclerotic coronary artery disease(CAD) comprises a broad spectrum of clinical entities that include asymptomatic subclinical atherosclerosis and its clinical complications, such as angina pectoris, myocardial in...Atherosclerotic coronary artery disease(CAD) comprises a broad spectrum of clinical entities that include asymptomatic subclinical atherosclerosis and its clinical complications, such as angina pectoris, myocardial infarction(MI) and sudden cardiac death. CAD continues to be the leading cause of death in industrialized society. The long-recognized familial clustering of CAD suggests that genetics plays a central role in its development, with the heritability of CAD and MI estimated at approximately 50% to 60%. Understanding the genetic architecture of CAD and MI has proven to be difficult and costly due to the heterogeneity of clinical CAD and the underlying multi-decade complex pathophysiological processes that involve both genetic and environmental interactions. This review describes the clinical heterogeneity of CAD and MI to clarify the disease spectrum in genetic studies, provides a brief overview of the historical understanding and estimation of the heritability of CAD and MI, recounts major gene discoveries of potential causal mutations in familial CAD and MI, summarizes CAD and MIassociated genetic variants identified using candidate gene approaches and genome-wide association studies(GWAS), and summarizes the current status of the construction and validations of genetic risk scores for lifetime risk prediction and guidance for preventive strategies. Potential protective genetic factors against the development of CAD and MI are also discussed. Finally, GWAS have identified multiple genetic factors associated with an increased risk of in-stent restenosis following stent placement for obstructive CAD. This review will also address genetic factors associated with in-stent restenosis, which may ultimately guide clinical decision-making regarding revascularization strategies for patients with CAD and MI.展开更多
Polymorphisms within gene coding regions represent the most important part of the overall genetic diversity of rice.We characterized the gene-coding sequence-haplotype(gcHap)diversity of 45963 rice genes in 3010 rice ...Polymorphisms within gene coding regions represent the most important part of the overall genetic diversity of rice.We characterized the gene-coding sequence-haplotype(gcHap)diversity of 45963 rice genes in 3010 rice accessions.With an average of 226±390 gcHaps per gene in rice populations,rice genes could be classified into three main categories:12865 conserved genes,10254 subspecific differentiating genes,and 22844 remaining genes.We found that 39218 rice genes carry>255179 major gcHaps of potential functional importance.Most(87.5%)of the detected gcHaps were specific to subspecies or populations.The inferred proto-ancestors of local landrace populations reconstructed from conserved predominant(ancient)gcHaps correlated strongly with wild rice accessions from the same geographic regions,supporting a multiorigin(domestication)model of Oryza sativa.Past breeding efforts generally increased the gcHap diversity of modern varieties and'caused significant frequency shifts in predominant gcHaps of 14266 genes due to independent selection in the two subspecies.Low frequencies of“favorable”gcHaps at most known genes related to rice yield in modern varieties suggest huge potential for rice improvement by mining and pyramiding of favorable gcHaps.The gcHap data were demonstrated to have greater power than SNPs for the detection of causal genes that affect complex traits.The rice gcHap diversity dataset generated in this study would facilitate rice basic research and improvement in the future.展开更多
Improved soybean cultivars have been adapted to grow at a wide range of latitudes,enabling expansion of cultivation worldwide.However,the genetic basis of this broad adaptation is still not clear.Here,we report the id...Improved soybean cultivars have been adapted to grow at a wide range of latitudes,enabling expansion of cultivation worldwide.However,the genetic basis of this broad adaptation is still not clear.Here,we report the identification of GmPRR3b as a major flowering time regulatory gene that has been selected during domestication and genetic improvement for geographic expansion.Through a genome-wide association study of a diverse soybean landrace panel consisting of 279 accessions,we identified 16 candidate quantitative loci associated with flowering time and maturity time.The strongest signal resides in the known flowering gene E2,verifying the effectiveness of our approach.We detected strong signals associated with both flowering and maturity time in a genomic region containing GmPRR3b.Haplotype analysis revealed that GmPRR3bH6 is the major form of GmPRR3b that has been utilized during recent breeding of modern cultivars.mRNA profiling analysis showed that GmPRR3bH6 displays rhythmic and photoperiod-dependent expression and is preferentially induced under long-day conditions.Overexpression of GmPRR3bH6 increased main stem node number and yield,while knockout of GmPRR3bH6 using CRISPR/Cas9 technology delayed growth and the floral transition.GmPRR3bH6 appears to act as a transcriptional repressor of multiple predicted circadian clock genes,including GmCCAIa,which directly upregulates J/GmELF3a to modulate flowering time.The causal SNP(Chr12:5520945)likely endows GmPRR3bH6 a moderate but appropriate level of activity,leading to early flowering and vigorous growth traits preferentially selected during broad adaptation of landraces and improvement of cultivars.展开更多
Genotyping and phenotyping large natural populations provide opportunities for population genomic analysis and genome-wide association studies(GWAS). Several rice populations have been re-sequenced in the past decade;...Genotyping and phenotyping large natural populations provide opportunities for population genomic analysis and genome-wide association studies(GWAS). Several rice populations have been re-sequenced in the past decade;however, many major Chinese rice cultivars were not included in these studies. Here, we report large-scale genomic and phenotypic datasets for a collection mainly comprised of 1,275 rice accessions of widely planted cultivars and parental hybrid rice lines from China. The population was divided into three indica/Xian and three japonica/Geng phylogenetic subgroups that correlate strongly with their geographic or breeding origins. We acquired a total of 146 phenotypic datasets for 29 agronomic traits under multi-environments for different subpopulations. With GWAS, we identified a total of 143 significant association loci, including three newly identified candidate genes or alleles that control heading date or amylose content. Our genotypic analysis of agronomically important genes in the population revealed that many favorable alleles are underused in elite accessions, suggesting they may be used to provide improvements in future breeding efforts. Our study provides useful resources for rice genetics research and breeding.展开更多
The complex genetic architecture of quality traits has hindered efforts to modify seed nutrients in soybean. Genome-wide association studies were conducted for seed composition, including protein, oil, fatty acids, an...The complex genetic architecture of quality traits has hindered efforts to modify seed nutrients in soybean. Genome-wide association studies were conducted for seed composition, including protein, oil, fatty acids, and amino acids, using 313 diverse soybean germplasm accessions genotyped with a high-density SNP array. A total of 87 chromosomal regions were identified to be associated with seed composition, explain- ing 8%-89% of genetic variances. The candidate genes GmSAT1, AK-HSDH, SACPD-C, and FAD3A of known function, and putative MtN21 nodulin, FATB, and steroid-5-^-reductase involved in N2 fixation, amino acid biosynthesis, and fatty acid metabolism were found at the major-effect loci. Further analysis of additional germplasm accessions indicated that these major-effect loci had been subjected to domes- tication or modern breeding selection, and the allelic variants and distributions were relevant to geographic regions. We also revealed that amino acid concentrations related to seed weight and to total protein had a different genetic basis. This helps uncover the in-depth genetic mechanism of the intricate relationships among the seed compounds. Thus, our study not only provides valuable genes and markers for soybean nutrient improvement, both quantitatively and qualitatively, but also offers insights into the alteration of soybean quality during domestication and breeding.展开更多
Odorant-binding proteins (OBPs) and chemosensory proteins (CSPs) of insects are thought to play roles in olfactory recognition affecting host choice, copulation, reproduction and other behaviors. Previous descriptions...Odorant-binding proteins (OBPs) and chemosensory proteins (CSPs) of insects are thought to play roles in olfactory recognition affecting host choice, copulation, reproduction and other behaviors. Previous descriptions of OBPs and CSPs in the whitefly Bemisia tabaci often provided no or incomplete genetic information. In this study, we present a genome-wide and transcriptome-wide investigation of the OBPs and CSPs in B. tabaci MEAMl (Middle East-Asia Minorl species). Eight OBP and 19 CSP genes were identified that covered all previous sequences. Phylogenetic analyses showed that the CSP genes had a lineage-specific expansion (BtabBCSP人 BtabBCSP3, BtabBCSPl3, BtabBCSPl 7, BtabBCSP18 and BtabBCSP 19). Expression profiling of OBPs and CSPs by transcriptome sequencing and quantitative real-time polymerase chain reaction (qPCR) revealed that expression patterns differed among developmental stages of B. tabaci MEAM 1. Five OBP genes and 11 CSP genes significantly differed between males and females;four of the 19 CSP genes were highly expressed in adults, while two were highly expressed in nymphs. The expression profiles of the OBP and CSP genes in different tissues of B. tabaci MEAM1 adults were analyzed by qPCR. Four OBP genes found in B. tabaci MEAM 1 were highly expressed in the head. Conversely, only two CSPs were enriched in the head, while the other six CSPs were specifically expressed in other tissues. Our results provide a foundation for future research on OBPs and CSPs in B. tabaci.展开更多
The clinical outcome of hepatitis B virus(HBV) infection depends on the success or failure of the immune responses to HBV,and varies widely among individuals,ranging from asymptomatic self-limited infection,inactive c...The clinical outcome of hepatitis B virus(HBV) infection depends on the success or failure of the immune responses to HBV,and varies widely among individuals,ranging from asymptomatic self-limited infection,inactive carrier state,chronic hepatitis,cirrhosis,hepatocellular carcinoma,to liver failure,depending on the success or failure of immune response to HBV.Genome-wide association studies(GWAS) identified key genetic factors influencing the pathogenesis of HBV-related traits.In this review,we discuss GWAS for persistence of HBV infection,antibody response to hepatitis B vaccine,and HBV-related advanced liver diseases.HBV persistence is associated with multiple genes with diverse roles in immune mechanisms.The strongest associations are found within the classical human leukocyte antigen(HLA) genes,highlighting the central role of antigen presentation in the immune response to HBV.Associated variants affect both epitope binding specificities and expression levels of HLA molecules.Several other susceptibility genes regulate the magnitude of adaptive immune responses,determining immunity vs tolerance.HBV persistence and nonresponse to vaccine share the same risk variants,implying overlapping genetic bases.On the other hand,the risk variants for HBV-related advanced liver diseases are largely different,suggesting different host-virus dynamics in acute vs chronic HBV infections.The findings of these GWAS are likely to pave the way for developing more effective preventive and therapeutic interventions by personalizing the management of HBV infection.展开更多
Genome-wide association studies （GWASs） have identified thousands of genes and genetic variants （mainly SNPs） that contribute to complex diseases in humans. Functional characterization and mechanistic elucidation ...Genome-wide association studies （GWASs） have identified thousands of genes and genetic variants （mainly SNPs） that contribute to complex diseases in humans. Functional characterization and mechanistic elucidation of these SNPs and genes action are the next major challenge. It has been well established that SNPs altering the amino acids of protein-coding genes can drastically impact protein function, and play an important role in molecular pathogenesis. Functions of regulatory SNPs can be complex and elusive, and involve gene expression regulation through the effect on RNA splicing, transcription factor binding, DNA metbylation and miRNA recruitment. In the present review, we summarize the recent progress in our understanding of functional consequences of GWAS-associated non-coding regulatory SNPs, and discuss the application of systems genetics and network biology in the interpretation of GWAS findings.展开更多
Excess salinity is a natural stress that causes crop yield losses worldwide. The genetic bases of maize salt tolerance remain largely unknown. Here we investigated the survival rates of 445 maize natural accessions af...Excess salinity is a natural stress that causes crop yield losses worldwide. The genetic bases of maize salt tolerance remain largely unknown. Here we investigated the survival rates of 445 maize natural accessions after salt treatments. A skewed distribution of the salttolerant phenotypes was observed in this population.Genome-wide association studies(GWAS) revealed 57 loci significantly associated with salt tolerance. Forty-nine candidate genes were detected from these loci. About10% of these genes were co-localized with loci from QTL mapping. Forty four percent of the candidate genes were involved in stress responses, ABA signaling,stomata division, DNA binding/transcription regulation and auxin signaling, suggesting that they are key genetic mechanisms of maize salt tolerance. Transgenic studies showed that two genes, the salt-tolerance-associatedgene 4(SAG4, GRMZM2 G077295) and SAG6(GRMZM2 G106056), which encode a protein transport protein and the double-strand break repair protein MRE11,respectively, had positive roles in plant salt tolerance,and their salt-tolerant haplotypes were revealed. The genes we identified in this study provide a list of candidate targets for further study of maize salt tolerance, and of genetic markers and materials that may be used for breeding salt-tolerance in maize.展开更多
Gray leaf spot(GLS),caused by Cercospora zeae-maydis,is an important foliar disease of maize(Zea mays L.)worldwide,resistance to which is controlled by multiple quantitative trait loci(QTL).To gain insights into the g...Gray leaf spot(GLS),caused by Cercospora zeae-maydis,is an important foliar disease of maize(Zea mays L.)worldwide,resistance to which is controlled by multiple quantitative trait loci(QTL).To gain insights into the genetic architecture underlying the resistance to this disease,an association mapping population consisting of 161 inbred lines was evaluated for resistance to GLS in a plant pathology nursery at Shenyang in 2010 and 2011.Subsequently,a genome-wide association study,using 41,101 single-nucleotide polymorphisms(SNPs),identified 51 SNPs significantly(P<0.001)associated with GLS resistance,which could be converted into 31 QTL.In addition,three candidate genes related to plant defense were identified,including nucleotidebinding-site/leucine-rich repeat,receptor-like kinase genes similar to those involved in basal defense.Two genic SNPs,PZE-103142893 and PZE-109119001,associated with GLS resistance in chromosome bins 3.07 and 9.07,can be used for marker-assisted selection(MAS)of GLS resistance.These results provide an important resource for developing molecular markers closely linked with the target trait,enhancing breeding efficiency.展开更多
文摘Inflammatory bowel disease(IBD) results from a complex series of interactions between susceptibility genes, the environment, and the immune system.Recently, some studies provided strong evidence that the process of autophagy affects several aspects of mucosal immune responses. Autophagy is a cellular stress response that plays key roles in physiological processes, such as innate and adaptive immunity, adaptation to starvation, degradation of aberrant proteins or organelles, antimicrobial defense, and protein secretion. Dysfunctional autophagy is recognized as a contributing factor in many chronic inflammatory diseases, including IBD. Autophagy plays multiple roles in IBD pathogenesis by altering processes that include intracellular bacterial killing, antimicrobial peptide secretion by Paneth cells, goblet cell function, proinflammatory cytokine production by macrophages, antigen presentation by dendritic cells, and the endoplasmic reticulum stress response in enterocytes. Recent studies have identified susceptibility genes involved in autophagy, such as NOD2, ATG16L1, and IRGM, and active research is ongoing all over the world. The aim of this review is a systematic appraisal of the current literature to provide a better understanding of the role of autophagy in the pathogenesis of IBD. Understanding these mechanisms will bring about new strategies for the treatment and prevention of IBD.
文摘银屑病是一种常见的免疫异常性增殖性皮肤病。临床特征为皮肤表面履盖大量厚实的鳞屑性斑片。虽然已有大量家族性研究资料表明银屑病的发病存在着遗传因素,但是该病的遗传模式至今尚不清楚。大量研究表明:复杂性疾病的遗传学研究除了MHC的一些位点的相关结果比较恒定外,绝大多数的研究结果变异较大。全基因组关联分析(genome-wide association study,GWAS)是一种对全基因组范围内的常见遗传变异(单核苷酸多态性和拷贝数变异)进行总体关联分析的方法,在全基因组范围内进行整体研究,能够一次性对疾病进行轮廓性概览,适用于包括银屑病在内的复杂疾病的研究。运用全基因组关联分析对银屑病进行的三个研究,刊登在今年2月的《自然-遗传学》杂志,结果发现了几个银屑病的遗传学易感位点,提示在免疫学和其它领域的几个信号通路可能参与了该病的发病机制。无论是以往的关联研究还是现在的全基因组关联分析研究,均提示银屑病与涉及人类免疫性疾病的免疫反应的MHC位点(如HLA-Cw6和其他MHC变异位点)紧密相关。还有两个与银屑病高度相关的与炎症反应密切关联的非MHC基因(IL-12B和IL23R),也在银屑病的发病机制中起着重要作用。最近运用抗IL-12p40的生物制剂有效治疗银屑病的临床试验,进一步证实了IL-12/23在银屑病病理生理过程中关键作用。在中国人群中进行了银屑病易感基因的GWAS研究发现:位于1q21上的晚期角质化包膜(late cornified envelope,LCE)基因簇中LCE3A和LCE3D的区域异常与银屑病显著性相关。与此同时,国际上另一个研究小组对西班牙、荷兰、意大利和美国人群中进行的银屑病易感基因的GWAS研究发现,LCE基因簇中LCE3B和LCE3C区域的缺失与银屑病显著性相关。这些相互独立的研究有力地证实LCE基因参与银屑病的发病。到目前为止,虽然已经有了一
文摘Receptor-like cytoplasmic kinases （RLCKs） in plants belong to the super family of receptor-like kinases （RLKs）. These proteins show homology to RLKs in kinase domain but lack the transmembrane domain. Some of the functionally characterized RLCKs from plants have been shown to play roles in development and stress responses. Previously, 149 and 187 RLCK encoding genes were identified from Arabidopsis and rice, respectively. By using HMM-based domain structure and phylogenetic relationships, we have identified 379 OsRLCKs from rice. OsRLCKs are distributed on all 12 chromosomes of rice and some members are located on duplicated chromosomal segments. Several OsRLCKs probably also undergo alternative splicing, some having evidence only in the form of gene models. To understand their possible functions, expression patterns during landmark stages of vegetative and reproductive development as well as abiotic and biotic stress using microarray and MPSS-based data were analyzed. Real-time PCR-based expression profiling for a selected few genes confirmed the outcome of microarray analysis. Differential expression patterns observed for majority of OsRLCKs during development and stress suggest their involvement in diverse functions in rice. Majority of the stress-responsive OsRLCKs were also found to be localized within mapped regions of abiotic stress QTLs. Outcome of this study would help in selecting organ/development stage specific OsRLCK genes/targets for functional validation studies.
基金supported by the National Basic Research Program of China (973 Program: 2009CB118400)
文摘Transcription factors （TFs） are important regulators of gene expression. To better understand TFencoding genes in maize （Zea mays L.）, a genome-wide TF prediction was performed using the updated B73 reference genome. A total of 2 298 TF genes were identified, which can be classified into 56 families. The largest family, known as the MYB superfamily, comprises 322 MYB and MYB-related TF genes. The expression patterns of 2014 （87.64%） TF genes were examined using RNA-seq data, which resulted in the identification of a subset of TFs that are specifically expressed in particular tissues （including root, shoot, leaf, ear, tassel and kernel）. Similarly, 98 kernel-specific TF genes were further analyzed, and it was observed that 29 of the kernel-specific genes were preferentially expressed in the early kernel developmental stage, while 69 of the genes were expressed in the late kernel developmental stage. Identification of these TFs, particularly the tissue-specific ones, provides important information for the understanding of development and transcriptional regulation of maize.
基金This work was supported by the Provincial Technology Innovation Program of Shandong,Ningxia Hui Autonomous Region agricultural breeding special project(NXNYYZ202001)Jiangsu Seed Industry Revitalization Competitive Project JBGS(2021)072,Ningbo Science and Technology Innovation Project 2021Z132,and Weifang Seed InnovationGroup.
文摘Watermelon,Citrullus lanatus,is the world's third largest fruit crop.Reference genomes with gaps and a narrow genetic base hinder functional genomics and genetic improvement of watermelon.Here,we report the assembly of a telomere-to-telomere gap-free genome of the elite watermelon inbred line G42 by incorporating high-coverage and accurate long-read sequencing data with multiple assembly strategies.All 11 chromosomes have been assembled into single-contig pseudomolecules without gaps,representing the highest completeness and assembly quality to date.The G42 reference genome is 369321829 bp in length and contains 24205 predicted protein-coding genes,with all 22 telomeres and 11 centromeres characterized.Furthermore,we established a pollen-EMS mutagenesis protocol and obtained over 200000M1 seeds from G42.In a sampling pool,48 monogenic phenotypic mutations,selected from 223M1and 78 M2 mutants with morphological changes,were confirmed.The average mutation density was 1 SNP/1.69Mband1 indel/4.55 Mb per M1 plant and 1SNP/1.08Mb and 1 indel/6.25 Mb per M2 plant.Taking advantage of the gap-free G42 genome,8039 mutations from 32 plants sampled from M1 and M2 families were identified with 100%accuracy,whereas only 25% of the randomly selected mutations identified using the 97103v2 reference genome could be confirmed.Using this library and the gap-free genome,two genes responsible for elongated fruit shape and male sterility(CiMs1)were identified,both caused by a single basechange from G to A.The validated gap-free genome and its EMS mutation library provide invaluable resources for functional genomics and genetic improvement of watermelon.
文摘Type 2 diabetes mellitus(T2DM) is a complex disease in which both genetic and environmental factors interact in determining impaired β-cell insulin secretion and peripheral insulin resistance. Insulin resistance in muscle, liver and fat is a prominent feature of most patients with T2DM and obesity, resulting in a reduced response of these tissues to insulin. Considerable evidence has been accumulated to indicate that heredity is a major determinant of insulin resistance and T2DM. It is believed that, among individuals destined to develop T2DM, hyperinsulinemia is the mechanism by which the pancreatic β-cell initially compensates for deteriorating peripheral insulin sensitivity, thus ensuring normal glucose tolerance. Most of these people will develop T2DM when β-cells fail to compensate. Despite the progress achieved in this field in recent years, the genetic causes of insulin resistance and T2DM remain elusive.Candidate gene association, linkage and genome-wide association studies have highlighted the role of genetic factors in the development of T2DM. Using these strategies, a large number of variants have been identified in many of these genes, most of which may influence both hepatic and peripheral insulin resistance, adipogenesis and β-cell mass and function. Recently, a new gene has been identified by our research group, the HMGA1 gene, whose loss of function can greatly raise the risk of developing T2DM in humans and mice. Functional genetic variants of the HMGA1 gene have been associated with insulin resistance syndromes among white Europeans, Chinese individuals and Americans of Hispanic ancestry. These findings may represent new ways to improve or even prevent T2DM.
文摘Ginseng(Panax ginseng C.A. Meyer) is one of the best-selling herbal medicines, with ginsenosides as its main pharmacologically active constituents. Although extensive chemical and pharmaceutical studies of these compounds have been performed, genome-wide studies of the basic helix-loop-helix(b HLH) transcription factors of ginseng are still limited. The b HLH transcription factor family is one of the largest transcription factor families found in eukaryotic organisms, and these proteins are involved in a myriad of regulatory processes. In our study, 169 bHLH transcription factor genes were identified in the genome of P. ginseng, and phylogenetic analysis indicated that these PGb HLHs could be classified into 24 subfamilies. A total of 21 RNA-seq data sets, including two sequencing libraries for jasmonate(JA)-responsive and 19 reported libraries for organ-specific expression analyses were constructed. Through a combination of gene-specific expression patterns and chemical contents,6 PGbHLH genes from 4 subfamilies were revealed to be potentially involved in the regulation of ginsenoside biosynthesis. These 6 PGbHLHs, which had distinct target genes, were further divided into two groups depending on the absence of MYC-N structure. Our results would provide a foundation for understanding the molecular basis and regulatory mechanisms of bHLH transcription factor action in P.ginseng.
基金This work was supported by grants from the National Basic Research Program of China （No. 2012CD518300）, the National Natural Science Foundation of China （No. 81101946）, and the Prostate Cancer Foundation Young Investigator Award, and Shanghai Pujiang Program （12PJD008）.
文摘Prostate cancer （PCa） research in China has been on a rocketing trend in recent years. The first genome-wide association study （GWAS） in China identified two new PCa risk associated single nucleotide polymorphisms （SNPs）. Next generation sequencing is beginning to be used, yielding novel findings： gene fusions, long non-coding RNAs and other variations. Mechanisms of PCa progression have been illustrated while various diagnosis biomarkers have been investigated extensively. Personalized therapy based on genetic factors, nano-medicine and traditional Chinese medicine has been the focus of experimental therapeutic research for PCa. This review intends to shed light upon the recent progress in PCa research in China and points out the possible breakthroughs in the future.
基金Acknowledgments This research was supported by the following, Par-Eu Scholars Program, the National Natural Science Foundation of China （31372265, 31572332）, Coordinated Research Project of the International Atomic Energy Agency （18268/R0）, and National Key Program of Science and Technology Foundation Work of China （2015FY210300）. Conceived and designed the research： BC, XH. Performed the analysis： XH, BC, ZBH, YJZ, YZ, PJX, LQ. Wrote the paper： XH, BC, ZBH.
文摘Anopheles sinensis is a major malaria vector. Insect odorant-binding proteins （OBPs） may function in the reception of odorants in the olfactory system. The classification and characterization of the An. sinensis OBP genes have not been systematically studied. In this study, 64 putative OBP genes were identified at the whole-genome level of An. sinensis based on the comparison between OBP conserved motifs, PBP_GOBE and phylogenetic analysis with An. gambiae OBPs. The characterization of An. sinensis OBPs, including the motifs conservation, gene structure, genomic organization and classification, were investigated. A new gene, AsOBP73, belonging to the Plus-C subfamily, was identified with the support of transcript and conservative motifs. These An. sinensis OBP genes were classified into three subfamilies with 37, 15 and 12 genes in the subfamily Classic, Atypical and Plus-C, respectively. The genomic organization of An. sinensis OBPs suggests a clustered distribution across nine different scaffolds. Eight genes （0BP23-28, 0BP63- 64） might originate from a single gene through a series of historic duplication events at least before divergence of Anopheles, Culex and Aedes. The microsynteny analyses indicate a very high synteny between An. sinensis and An. gambiae OBPs. OBP70 and OBP71 earlier classified under Plus-C in An. gambiae are recognized as belonging to the group Obp59a of the Classic subfamily, and OBP69 earlier classified under Plus-C has been moved to the Atypical subfamily in this study. The study established a basic information frame for further study of the OBP genes in insects as well as in An. sinensis.
基金NC TraC S to Dai XNo.550KR91403+1 种基金NIH T32 to Wiernek SNo.HL083828-04
文摘Atherosclerotic coronary artery disease(CAD) comprises a broad spectrum of clinical entities that include asymptomatic subclinical atherosclerosis and its clinical complications, such as angina pectoris, myocardial infarction(MI) and sudden cardiac death. CAD continues to be the leading cause of death in industrialized society. The long-recognized familial clustering of CAD suggests that genetics plays a central role in its development, with the heritability of CAD and MI estimated at approximately 50% to 60%. Understanding the genetic architecture of CAD and MI has proven to be difficult and costly due to the heterogeneity of clinical CAD and the underlying multi-decade complex pathophysiological processes that involve both genetic and environmental interactions. This review describes the clinical heterogeneity of CAD and MI to clarify the disease spectrum in genetic studies, provides a brief overview of the historical understanding and estimation of the heritability of CAD and MI, recounts major gene discoveries of potential causal mutations in familial CAD and MI, summarizes CAD and MIassociated genetic variants identified using candidate gene approaches and genome-wide association studies(GWAS), and summarizes the current status of the construction and validations of genetic risk scores for lifetime risk prediction and guidance for preventive strategies. Potential protective genetic factors against the development of CAD and MI are also discussed. Finally, GWAS have identified multiple genetic factors associated with an increased risk of in-stent restenosis following stent placement for obstructive CAD. This review will also address genetic factors associated with in-stent restenosis, which may ultimately guide clinical decision-making regarding revascularization strategies for patients with CAD and MI.
基金funded by the National Key Research and Development Program of China(2016YFD0100301)the National Natural Science Foundation of China(31771762)+1 种基金the Agricultural Science,and Technology Innovation Program and the Cooperation and Innovation Mission(CAAS-ZD>CT202001)the Talent Introduction Program(RC311901)of Anhui Agricultural University.
文摘Polymorphisms within gene coding regions represent the most important part of the overall genetic diversity of rice.We characterized the gene-coding sequence-haplotype(gcHap)diversity of 45963 rice genes in 3010 rice accessions.With an average of 226±390 gcHaps per gene in rice populations,rice genes could be classified into three main categories:12865 conserved genes,10254 subspecific differentiating genes,and 22844 remaining genes.We found that 39218 rice genes carry>255179 major gcHaps of potential functional importance.Most(87.5%)of the detected gcHaps were specific to subspecies or populations.The inferred proto-ancestors of local landrace populations reconstructed from conserved predominant(ancient)gcHaps correlated strongly with wild rice accessions from the same geographic regions,supporting a multiorigin(domestication)model of Oryza sativa.Past breeding efforts generally increased the gcHap diversity of modern varieties and'caused significant frequency shifts in predominant gcHaps of 14266 genes due to independent selection in the two subspecies.Low frequencies of“favorable”gcHaps at most known genes related to rice yield in modern varieties suggest huge potential for rice improvement by mining and pyramiding of favorable gcHaps.The gcHap data were demonstrated to have greater power than SNPs for the detection of causal genes that affect complex traits.The rice gcHap diversity dataset generated in this study would facilitate rice basic research and improvement in the future.
基金the National Key Research and Development Plan(2016YFD0101005,2016YFD0100201,and 2016YFD0100304)the National Natural Science Foundation of China(31871705 and 31422041)the Agricultural Science and Technology Innovation Program of Chinese Academy of Agricultural Sciences,and the Central Public-Interest Scientific Institution Basal Research Fund(Y2016JC13).
文摘Improved soybean cultivars have been adapted to grow at a wide range of latitudes,enabling expansion of cultivation worldwide.However,the genetic basis of this broad adaptation is still not clear.Here,we report the identification of GmPRR3b as a major flowering time regulatory gene that has been selected during domestication and genetic improvement for geographic expansion.Through a genome-wide association study of a diverse soybean landrace panel consisting of 279 accessions,we identified 16 candidate quantitative loci associated with flowering time and maturity time.The strongest signal resides in the known flowering gene E2,verifying the effectiveness of our approach.We detected strong signals associated with both flowering and maturity time in a genomic region containing GmPRR3b.Haplotype analysis revealed that GmPRR3bH6 is the major form of GmPRR3b that has been utilized during recent breeding of modern cultivars.mRNA profiling analysis showed that GmPRR3bH6 displays rhythmic and photoperiod-dependent expression and is preferentially induced under long-day conditions.Overexpression of GmPRR3bH6 increased main stem node number and yield,while knockout of GmPRR3bH6 using CRISPR/Cas9 technology delayed growth and the floral transition.GmPRR3bH6 appears to act as a transcriptional repressor of multiple predicted circadian clock genes,including GmCCAIa,which directly upregulates J/GmELF3a to modulate flowering time.The causal SNP(Chr12:5520945)likely endows GmPRR3bH6 a moderate but appropriate level of activity,leading to early flowering and vigorous growth traits preferentially selected during broad adaptation of landraces and improvement of cultivars.
基金supported by the Chinese Academy of Sciences “Strategic Priority Research Program” fund (XDA08020302)grants from State Key Laboratory of Plant Genomics。
文摘Genotyping and phenotyping large natural populations provide opportunities for population genomic analysis and genome-wide association studies(GWAS). Several rice populations have been re-sequenced in the past decade;however, many major Chinese rice cultivars were not included in these studies. Here, we report large-scale genomic and phenotypic datasets for a collection mainly comprised of 1,275 rice accessions of widely planted cultivars and parental hybrid rice lines from China. The population was divided into three indica/Xian and three japonica/Geng phylogenetic subgroups that correlate strongly with their geographic or breeding origins. We acquired a total of 146 phenotypic datasets for 29 agronomic traits under multi-environments for different subpopulations. With GWAS, we identified a total of 143 significant association loci, including three newly identified candidate genes or alleles that control heading date or amylose content. Our genotypic analysis of agronomically important genes in the population revealed that many favorable alleles are underused in elite accessions, suggesting they may be used to provide improvements in future breeding efforts. Our study provides useful resources for rice genetics research and breeding.
文摘The complex genetic architecture of quality traits has hindered efforts to modify seed nutrients in soybean. Genome-wide association studies were conducted for seed composition, including protein, oil, fatty acids, and amino acids, using 313 diverse soybean germplasm accessions genotyped with a high-density SNP array. A total of 87 chromosomal regions were identified to be associated with seed composition, explain- ing 8%-89% of genetic variances. The candidate genes GmSAT1, AK-HSDH, SACPD-C, and FAD3A of known function, and putative MtN21 nodulin, FATB, and steroid-5-^-reductase involved in N2 fixation, amino acid biosynthesis, and fatty acid metabolism were found at the major-effect loci. Further analysis of additional germplasm accessions indicated that these major-effect loci had been subjected to domes- tication or modern breeding selection, and the allelic variants and distributions were relevant to geographic regions. We also revealed that amino acid concentrations related to seed weight and to total protein had a different genetic basis. This helps uncover the in-depth genetic mechanism of the intricate relationships among the seed compounds. Thus, our study not only provides valuable genes and markers for soybean nutrient improvement, both quantitatively and qualitatively, but also offers insights into the alteration of soybean quality during domestication and breeding.
基金the National Natural Science Foundation of China (31420103919, 31672032 and 31772172)Beijing Nova Program (Z171100001117039)Science and Technology Innovation Project from the Chinese Academy of Agricultural Sciences (CAASXTCX2016017002)and the Beijing Key Laboratory for Pest Control and Sustainable Cultivation of Vegetables.
文摘Odorant-binding proteins (OBPs) and chemosensory proteins (CSPs) of insects are thought to play roles in olfactory recognition affecting host choice, copulation, reproduction and other behaviors. Previous descriptions of OBPs and CSPs in the whitefly Bemisia tabaci often provided no or incomplete genetic information. In this study, we present a genome-wide and transcriptome-wide investigation of the OBPs and CSPs in B. tabaci MEAMl (Middle East-Asia Minorl species). Eight OBP and 19 CSP genes were identified that covered all previous sequences. Phylogenetic analyses showed that the CSP genes had a lineage-specific expansion (BtabBCSP人 BtabBCSP3, BtabBCSPl3, BtabBCSPl 7, BtabBCSP18 and BtabBCSP 19). Expression profiling of OBPs and CSPs by transcriptome sequencing and quantitative real-time polymerase chain reaction (qPCR) revealed that expression patterns differed among developmental stages of B. tabaci MEAM 1. Five OBP genes and 11 CSP genes significantly differed between males and females;four of the 19 CSP genes were highly expressed in adults, while two were highly expressed in nymphs. The expression profiles of the OBP and CSP genes in different tissues of B. tabaci MEAM1 adults were analyzed by qPCR. Four OBP genes found in B. tabaci MEAM 1 were highly expressed in the head. Conversely, only two CSPs were enriched in the head, while the other six CSPs were specifically expressed in other tissues. Our results provide a foundation for future research on OBPs and CSPs in B. tabaci.
文摘The clinical outcome of hepatitis B virus(HBV) infection depends on the success or failure of the immune responses to HBV,and varies widely among individuals,ranging from asymptomatic self-limited infection,inactive carrier state,chronic hepatitis,cirrhosis,hepatocellular carcinoma,to liver failure,depending on the success or failure of immune response to HBV.Genome-wide association studies(GWAS) identified key genetic factors influencing the pathogenesis of HBV-related traits.In this review,we discuss GWAS for persistence of HBV infection,antibody response to hepatitis B vaccine,and HBV-related advanced liver diseases.HBV persistence is associated with multiple genes with diverse roles in immune mechanisms.The strongest associations are found within the classical human leukocyte antigen(HLA) genes,highlighting the central role of antigen presentation in the immune response to HBV.Associated variants affect both epitope binding specificities and expression levels of HLA molecules.Several other susceptibility genes regulate the magnitude of adaptive immune responses,determining immunity vs tolerance.HBV persistence and nonresponse to vaccine share the same risk variants,implying overlapping genetic bases.On the other hand,the risk variants for HBV-related advanced liver diseases are largely different,suggesting different host-virus dynamics in acute vs chronic HBV infections.The findings of these GWAS are likely to pave the way for developing more effective preventive and therapeutic interventions by personalizing the management of HBV infection.
基金supported by the National Natural Science Foundation of China (Nos. 31371275 and 30971635)the National Basic Research Program of China (973 Program) (No. 2011CB504004)self-determined research funds of CCNU from the colleges’ basic research and operation of MOE (No. CCNU14Z01003)
文摘Genome-wide association studies （GWASs） have identified thousands of genes and genetic variants （mainly SNPs） that contribute to complex diseases in humans. Functional characterization and mechanistic elucidation of these SNPs and genes action are the next major challenge. It has been well established that SNPs altering the amino acids of protein-coding genes can drastically impact protein function, and play an important role in molecular pathogenesis. Functions of regulatory SNPs can be complex and elusive, and involve gene expression regulation through the effect on RNA splicing, transcription factor binding, DNA metbylation and miRNA recruitment. In the present review, we summarize the recent progress in our understanding of functional consequences of GWAS-associated non-coding regulatory SNPs, and discuss the application of systems genetics and network biology in the interpretation of GWAS findings.
基金supported by the Ministry of Science and Technology of China (2015 BAD02B01)
文摘Excess salinity is a natural stress that causes crop yield losses worldwide. The genetic bases of maize salt tolerance remain largely unknown. Here we investigated the survival rates of 445 maize natural accessions after salt treatments. A skewed distribution of the salttolerant phenotypes was observed in this population.Genome-wide association studies(GWAS) revealed 57 loci significantly associated with salt tolerance. Forty-nine candidate genes were detected from these loci. About10% of these genes were co-localized with loci from QTL mapping. Forty four percent of the candidate genes were involved in stress responses, ABA signaling,stomata division, DNA binding/transcription regulation and auxin signaling, suggesting that they are key genetic mechanisms of maize salt tolerance. Transgenic studies showed that two genes, the salt-tolerance-associatedgene 4(SAG4, GRMZM2 G077295) and SAG6(GRMZM2 G106056), which encode a protein transport protein and the double-strand break repair protein MRE11,respectively, had positive roles in plant salt tolerance,and their salt-tolerant haplotypes were revealed. The genes we identified in this study provide a list of candidate targets for further study of maize salt tolerance, and of genetic markers and materials that may be used for breeding salt-tolerance in maize.
基金jointly funded by the National High Technology Research and Development Program of China(2012AA101104)the Modern Agro-Industry Technology Research System of Maize(CARS-02-02)
文摘Gray leaf spot(GLS),caused by Cercospora zeae-maydis,is an important foliar disease of maize(Zea mays L.)worldwide,resistance to which is controlled by multiple quantitative trait loci(QTL).To gain insights into the genetic architecture underlying the resistance to this disease,an association mapping population consisting of 161 inbred lines was evaluated for resistance to GLS in a plant pathology nursery at Shenyang in 2010 and 2011.Subsequently,a genome-wide association study,using 41,101 single-nucleotide polymorphisms(SNPs),identified 51 SNPs significantly(P<0.001)associated with GLS resistance,which could be converted into 31 QTL.In addition,three candidate genes related to plant defense were identified,including nucleotidebinding-site/leucine-rich repeat,receptor-like kinase genes similar to those involved in basal defense.Two genic SNPs,PZE-103142893 and PZE-109119001,associated with GLS resistance in chromosome bins 3.07 and 9.07,can be used for marker-assisted selection(MAS)of GLS resistance.These results provide an important resource for developing molecular markers closely linked with the target trait,enhancing breeding efficiency.
