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1.
BMC Plant Biol ; 24(1): 379, 2024 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-38720284

RESUMO

BACKGROUND: Rice bean (Vigna umbellata), an underrated legume, adapts to diverse climatic conditions with the potential to support food and nutritional security worldwide. It is used as a vegetable, minor food crop and a fodder crop, being a rich source of proteins, minerals, and essential fatty acids. However, little effort has been made to decipher the genetic and molecular basis of various useful traits in this crop. Therefore, we considered three economically important traits i.e., flowering, maturity and seed weight of rice bean and identified the associated candidate genes employing an associative transcriptomics approach on 100 diverse genotypes out of 1800 evaluated rice bean accessions from the Indian National Genebank. RESULTS: The transcriptomics-based genotyping of one-hundred diverse rice bean cultivars followed by pre-processing of genotypic data resulted in 49,271 filtered markers. The STRUCTURE, PCA and Neighbor-Joining clustering of 100 genotypes revealed three putative sub-populations. The marker-trait association analysis involving various genome-wide association study (GWAS) models revealed significant association of 82 markers on 48 transcripts for flowering, 26 markers on 22 transcripts for maturity and 22 markers on 21 transcripts for seed weight. The transcript annotation provided information on the putative candidate genes for the considered traits. The candidate genes identified for flowering include HSC80, P-II PsbX, phospholipid-transporting-ATPase-9, pectin-acetylesterase-8 and E3-ubiquitin-protein-ligase-RHG1A. Further, the WRKY1 and DEAD-box-RH27 were found to be associated with seed weight. Furthermore, the associations of PIF3 and pentatricopeptide-repeat-containing-gene with maturity and seed weight, and aldo-keto-reductase with flowering and maturity were revealed. CONCLUSION: This study offers insights into the genetic basis of key agronomic traits in rice bean, including flowering, maturity, and seed weight. The identified markers and associated candidate genes provide valuable resources for future exploration and targeted breeding, aiming to enhance the agronomic performance of rice bean cultivars. Notably, this research represents the first transcriptome-wide association study in pulse crop, uncovering the candidate genes for agronomically useful traits.


Assuntos
Flores , Estudo de Associação Genômica Ampla , Sementes , Transcriptoma , Sementes/genética , Sementes/crescimento & desenvolvimento , Flores/genética , Flores/crescimento & desenvolvimento , Vigna/genética , Vigna/crescimento & desenvolvimento , Genes de Plantas , Genótipo , Perfilação da Expressão Gênica , Mapeamento Cromossômico , Locos de Características Quantitativas/genética , Fenótipo
2.
Braz J Biol ; 84: e282495, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38747865

RESUMO

Rice (Oryza sativa L.) grown in many countries around the world with different climatic conditions and a huge number of environmental stresses, both biotic (fungi, bacteria, viruses, insects) and abiotic (cold, drought, salinity) limit rice productivity. In this regard, breeders and scientists are trying to create rice lines that are resistant to multiple stresses. The aim of this work was to screen and select cold and blast resistant rice breeding lines (RBLs) using molecular markers. Molecular screening of RBLs and parental varieties to cold tolerance was carried out using markers RM24545, RM1377, RM231 and RM569 associated with QTLs (qPSST-3, qPSST-7, qPSST-9). It was discovered that the presence of three QTLs characterizes the cold resistance of studied genotypes, and the absence of one of them leads to cold sensitivity. As a result, 21 cold-resistant out of the 28 studied RBLs were identified. These cold resistant 21 RBLs were further tested to blast resistance using markers Pi-ta, Pita3, Z56592, 195R-1, NMSMPi9-1, TRS26, Pikh MAS, MSM6, 9871.T7E2b, RM224 and RM1233. It was revealed that 16 RBLs from 21 studied lines contain 5-6 blast resistance genes. In accordance with the blast resistance strategy, the presence of 5 or more genes ensures the formation of stable resistance to Magnaporthe oryzae. Thus, 16 lines resistant to multiple stresses, such as cold and blast disease were developed. It should be noted that 6 of these selected lines are high-yielding, which is very important in rice breeding program. These RBLs can be used in breeding process as starting lines, germplasm exchange as a source of resistant genes for the development of new rice varieties resistant to multiple stress factors.


Assuntos
Oryza , Melhoramento Vegetal , Estresse Fisiológico , Oryza/genética , Oryza/microbiologia , Oryza/fisiologia , Estresse Fisiológico/genética , Resistência à Doença/genética , Locos de Características Quantitativas/genética , Genótipo , Marcadores Genéticos , Doenças das Plantas/genética , Doenças das Plantas/microbiologia , Temperatura Baixa
3.
Plant Cell Rep ; 43(5): 134, 2024 May 03.
Artigo em Inglês | MEDLINE | ID: mdl-38702564

RESUMO

KEY MESSAGE: 'Sikkim Primitive' maize landrace, unique for prolificacy (7-9 ears per plant) possesses unique genomic architecture in branching and inflorescence-related gene(s), and locus Zm00001eb365210 encoding glycosyltransferases was identified as the putative candidate gene underlying QTL (qProl-SP-8.05) for prolificacy. The genotype possesses immense usage in breeding high-yielding baby-corn genotypes. 'Sikkim Primitive' is a native landrace of North Eastern Himalayas, and is characterized by having 7-9 ears per plant compared to 1-2 ears in normal maize. Though 'Sikkim Primitive' was identified in the 1960s, it has not been characterized at a whole-genome scale. Here, we sequenced the entire genome of an inbred (MGUSP101) derived from 'Sikkim Primitive' along with three non-prolific (HKI1128, UMI1200, and HKI1105) and three prolific (CM150Q, CM151Q and HKI323) inbreds. A total of 942,417 SNPs, 24,160 insertions, and 27,600 deletions were identified in 'Sikkim Primitive'. The gene-specific functional mutations in 'Sikkim Primitive' were classified as 10,847 missense (54.36%), 402 non-sense (2.015%), and 8,705 silent (43.625%) mutations. The number of transitions and transversions specific to 'Sikkim Primitive' were 666,021 and 279,950, respectively. Among all base changes, (G to A) was the most frequent (215,772), while (C to G) was the rarest (22,520). Polygalacturonate 4-α-galacturonosyltransferase enzyme involved in pectin biosynthesis, cell-wall organization, nucleotide sugar, and amino-sugar metabolism was found to have unique alleles in 'Sikkim Primitive'. The analysis further revealed the Zm00001eb365210 gene encoding glycosyltransferases as the putative candidate underlying QTL (qProl-SP-8.05) for prolificacy in 'Sikkim Primitive'. High-impact nucleotide variations were found in ramosa3 (Zm00001eb327910) and zeaxanthin epoxidase1 (Zm00001eb081460) genes having a role in branching and inflorescence development in 'Sikkim Primitive'. The information generated unraveled the genetic architecture and identified key genes/alleles unique to the 'Sikkim Primitive' genome. This is the first report of whole-genome characterization of the 'Sikkim Primitive' landrace unique for its high prolificacy.


Assuntos
Genoma de Planta , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas , Zea mays , Zea mays/genética , Polimorfismo de Nucleotídeo Único/genética , Locos de Características Quantitativas/genética , Genoma de Planta/genética , Sequenciamento Completo do Genoma , Genótipo , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Melhoramento Vegetal , Fenótipo
4.
Trends Genet ; 40(1): 24-38, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38707509

RESUMO

How genotype determines phenotype is a well-explored question, but genotype-environment interactions and their heritable impact on phenotype over the course of evolution are not as thoroughly investigated. The fish Astyanax mexicanus, consisting of surface and cave ecotypes, is an ideal emerging model to study the genetic basis of adaptation to new environments. This model has permitted quantitative trait locus mapping and whole-genome comparisons to identify the genetic bases of traits such as albinism and insulin resistance and has helped to better understand fundamental evolutionary mechanisms. In this review, we summarize recent advances in A. mexicanus genetics and discuss their broader impact on the fields of adaptation and evolutionary genetics.


Assuntos
Cavernas , Characidae , Locos de Características Quantitativas , Animais , Locos de Características Quantitativas/genética , Characidae/genética , Adaptação Fisiológica/genética , Evolução Biológica , Fenótipo , Genótipo , Evolução Molecular , Interação Gene-Ambiente , Peixes/genética
5.
Physiol Plant ; 176(3): e14315, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38693794

RESUMO

Rapeseed (Brassica napus L.) is an oil-containing crop of great economic value but with considerable nitrogen requirement. Breeding root systems that efficiently absorb nitrogen from the soil could be a driver to ensure genetic gains for more sustainable rapeseed production. The aim of this study is to identify genomic regions that regulate root morphology in response to nitrate availability. The natural variability offered by 300 inbred lines was screened at two experimental locations. Seedlings grew hydroponically with low or elevated nitrate levels. Fifteen traits related to biomass production and root morphology were measured. On average across the panel, a low nitrate level increased the root-to-shoot biomass ratio and the lateral root length. A large phenotypic variation was observed, along with important heritability values and genotypic effects, but low genotype-by-nitrogen interactions. Genome-wide association study and bulk segregant analysis were used to identify loci regulating phenotypic traits. The first approach nominated 319 SNPs that were combined into 80 QTLs. Three QTLs identified on the A07 and C07 chromosomes were stable across nitrate levels and/or experimental locations. The second approach involved genotyping two groups of individuals from an experimental F2 population created by crossing two accessions with contrasting lateral root lengths. These individuals were found in the tails of the phenotypic distribution. Co-localized QTLs found in both mapping approaches covered a chromosomal region on the A06 chromosome. The QTL regions contained some genes putatively involved in root organogenesis and represent selection targets for redesigning the root morphology of rapeseed.


Assuntos
Brassica napus , Nitrogênio , Fenótipo , Raízes de Plantas , Locos de Características Quantitativas , Raízes de Plantas/genética , Raízes de Plantas/anatomia & histologia , Raízes de Plantas/crescimento & desenvolvimento , Raízes de Plantas/metabolismo , Nitrogênio/metabolismo , Locos de Características Quantitativas/genética , Brassica napus/genética , Brassica napus/crescimento & desenvolvimento , Brassica napus/anatomia & histologia , Brassica napus/metabolismo , Genótipo , Estudo de Associação Genômica Ampla , Polimorfismo de Nucleotídeo Único/genética , Biomassa , Nitratos/metabolismo , Mapeamento Cromossômico , Variação Genética
6.
Physiol Plant ; 176(3): e14303, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38698659

RESUMO

Cotton is an important cash crop for the textile industry. However, the understanding of natural genetic variation of fiber elongation in relation to miRNA is lacking. A miRNA gene (miR477b) was found to co-localize with a previously mapped fiber length (FL) quantitative trait locus (QTL). The miR477b was differentially expressed during fiber elongation between two backcross inbred lines (BILs) differing in FL and its precursor sequences. Bioinformatics and qRT-PCR analysis were further used to analyse the miRNA genes, which could produce mature miR477b. Cotton plants with virus-induced gene silencing (VIGS) constructs to over-express the allele of miR477b from the BIL with longer fibers had significantly longer fibers as compared with negative control plants, while the VIGS plants with suppressed miRNA expression had significantly shorter fibers. The expression level of the target gene (DELLA) and related genes (RDL1 and EXPA1 for DELLA through HOX3 protein) in the two BILs and/or the VIGS plants were generally congruent, as expected. This report represents one of the first comprehensive studies to integrate QTL linkage mapping and physical mapping of small RNAs with both small and mRNA transcriptome analysis, followed by VIGS, to identify candidate small RNA genes affecting the natural variation of fiber elongation in cotton.


Assuntos
Fibra de Algodão , Regulação da Expressão Gênica de Plantas , Gossypium , MicroRNAs , Locos de Características Quantitativas , Locos de Características Quantitativas/genética , Gossypium/genética , Gossypium/metabolismo , MicroRNAs/genética , MicroRNAs/metabolismo , Mapeamento Cromossômico , Inativação Gênica , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo
7.
BMC Plant Biol ; 24(1): 271, 2024 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-38605289

RESUMO

BACKGROUND: Agropyron cristatum (L.) is a valuable genetic resource for expanding the genetic diversity of common wheat. Pubing3228, a novel wheat-A. cristatum hybrid germplasm, exhibits several desirable agricultural traits, including high grain number per spike (GNS). Understanding the genetic architecture of GNS in Pubing3228 is crucial for enhancing wheat yield. This study aims to analyze the specific genetic regions and alleles associated with high GNS in Pubing3228. METHODS: The study employed a recombination inbred line (RIL) population derived from a cross between Pubing3228 and Jing4839 to investigate the genetic regions and alleles linked to high GNS. Quantitative Trait Loci (QTL) analysis and candidate gene investigation were utilized to explore these traits. RESULTS: A total of 40 QTLs associated with GNS were identified across 16 chromosomes, accounting for 4.25-17.17% of the total phenotypic variation. Five QTLs (QGns.wa-1D, QGns.wa-5 A, QGns.wa-7Da.1, QGns.wa-7Da.2 and QGns.wa-7Da.3) accounter for over 10% of the phenotypic variation in at least two environments. Furthermore, 94.67% of the GNS QTL with positive effects originated from Pubing3228. Candidate gene analysis of stable QTLs identified 11 candidate genes for GNS, including a senescence-associated protein gene (TraesCS7D01G148000) linked to the most significant SNP (AX-108,748,734) on chromosome 7D, potentially involved in reallocating nutrients from senescing tissues to developing seeds. CONCLUSION: This study provides new insights into the genetic mechanisms underlying high GNS in Pubing3228, offering valuable resources for marker-assisted selection in wheat breeding to enhance yield.


Assuntos
Agropyron , Locos de Características Quantitativas , Locos de Características Quantitativas/genética , Mapeamento Cromossômico , Agropyron/genética , Melhoramento Vegetal , Ligação Genética , Triticum/genética , Fenótipo , Grão Comestível/genética
8.
Cell Mol Neurobiol ; 44(1): 41, 2024 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-38656449

RESUMO

The cadherin family plays a pivotal role in orchestrating synapse formation in the central nervous system. Cadherin-related family member 1 (CDHR1) is a photoreceptor-specific calmodulin belonging to the expansive cadherin superfamily. However, its role in traumatic brain injury (TBI) remains largely unknown. CDHR1 expression across various brain tissue sites was analyzed using the GSE104687 dataset. Employing a summary-data-based Mendelian Randomization (SMR) approach, integrated analyses were performed by amalgamating genome-wide association study abstracts from TBI with public data on expressed quantitative trait loci and DNA methylation QTL from both blood and diverse brain tissues. CDHR1 expression and localization in different brain tissues were meticulously delineated using western blotting, immunohistochemistry, and enzyme-linked immunosorbent assay. CDHR1 expression was consistently elevated in the TBI group compared to that in the sham group across multiple tissues. The inflammatory response emerged as a crucial biological mechanism, and pro-inflammatory and anti-inflammatory factors were not expressed in either group. Integrated SMR analyses encompassing both blood and brain tissues substantiated the heightened CDHR1 expression profiles, with methylation modifications emerging as potential contributing factors for increased TBI risk. This was corroborated by western blotting and immunohistochemistry, confirming augmented CDHR1 expression following TBI. This multi-omics-based genetic association study highlights the elevated TBI risk associated with CDHR1 expression coupled with putative methylation modifications. These findings provide compelling evidence for future targeted investigations and offer promising avenues for developing interventional therapies for TBI.


Assuntos
Lesões Encefálicas Traumáticas , Caderinas , Animais , Humanos , Masculino , Encéfalo/metabolismo , Encéfalo/patologia , Lesões Encefálicas Traumáticas/genética , Lesões Encefálicas Traumáticas/metabolismo , Proteínas Relacionadas a Caderinas , Caderinas/genética , Caderinas/metabolismo , Metilação de DNA/genética , Estudo de Associação Genômica Ampla , Locos de Características Quantitativas/genética
9.
Nature ; 628(8009): 811-817, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38632397

RESUMO

Hybridization allows adaptations to be shared among lineages and may trigger the evolution of new species1,2. However, convincing examples of homoploid hybrid speciation remain rare because it is challenging to demonstrate that hybridization was crucial in generating reproductive isolation3. Here we combine population genomic analysis with quantitative trait locus mapping of species-specific traits to examine a case of hybrid speciation in Heliconius butterflies. We show that Heliconius elevatus is a hybrid species that is sympatric with both parents and has persisted as an independently evolving lineage for at least 180,000 years. This is despite pervasive and ongoing gene flow with one parent, Heliconius pardalinus, which homogenizes 99% of their genomes. The remaining 1% introgressed from the other parent, Heliconius melpomene, and is scattered widely across the H. elevatus genome in islands of divergence from H. pardalinus. These islands contain multiple traits that are under disruptive selection, including colour pattern, wing shape, host plant preference, sex pheromones and mate choice. Collectively, these traits place H. elevatus on its own adaptive peak and permit coexistence with both parents. Our results show that speciation was driven by introgression of ecological traits, and that speciation with gene flow is possible with a multilocus genetic architecture.


Assuntos
Borboletas , Introgressão Genética , Especiação Genética , Hibridização Genética , Locos de Características Quantitativas , Animais , Feminino , Masculino , Borboletas/anatomia & histologia , Borboletas/classificação , Borboletas/genética , Fluxo Gênico , Introgressão Genética/genética , Genoma de Inseto/genética , Preferência de Acasalamento Animal , Fenótipo , Pigmentação/genética , Locos de Características Quantitativas/genética , Isolamento Reprodutivo , Seleção Genética/genética , Especificidade da Espécie , Simpatria/genética , Asas de Animais/anatomia & histologia , Asas de Animais/metabolismo
10.
Planta ; 259(6): 130, 2024 Apr 22.
Artigo em Inglês | MEDLINE | ID: mdl-38647733

RESUMO

MAIN CONCLUSION: This article discusses the complex network of ion transporters, genes, microRNAs, and transcription factors that regulate crop tolerance to saline-alkaline stress. The framework aids scientists produce stress-tolerant crops for smart agriculture. Salinity and alkalinity are frequently coexisting abiotic limitations that have emerged as archetypal mediators of low yield in many semi-arid and arid regions throughout the world. Saline-alkaline stress, which occurs in an environment with high concentrations of salts and a high pH, negatively impacts plant metabolism to a greater extent than either stress alone. Of late, saline stress has been the focus of the majority of investigations, and saline-alkaline mixed studies are largely lacking. Therefore, a thorough understanding and integration of how plants and crops rewire metabolic pathways to repair damage caused by saline-alkaline stress is of particular interest. This review discusses the multitude of resistance mechanisms that plants develop to cope with saline-alkaline stress, including morphological and physiological adaptations as well as molecular regulation. We examine the role of various ion transporters, transcription factors (TFs), differentially expressed genes (DEGs), microRNAs (miRNAs), or quantitative trait loci (QTLs) activated under saline-alkaline stress in achieving opportunistic modes of growth, development, and survival. The review provides a background for understanding the transport of micronutrients, specifically iron (Fe), in conditions of iron deficiency produced by high pH. Additionally, it discusses the role of calcium in enhancing stress tolerance. The review highlights that to encourage biomolecular architects to reconsider molecular responses as auxiliary for developing tolerant crops and raising crop production, it is essential to (a) close the major gaps in our understanding of saline-alkaline resistance genes, (b) identify and take into account crop-specific responses, and (c) target stress-tolerant genes to specific crops.


Assuntos
MicroRNAs , Estresse Fisiológico , MicroRNAs/genética , MicroRNAs/metabolismo , Fatores de Transcrição/metabolismo , Fatores de Transcrição/genética , Regulação da Expressão Gênica de Plantas , Produtos Agrícolas/genética , Produtos Agrícolas/fisiologia , Salinidade , Concentração de Íons de Hidrogênio , Locos de Características Quantitativas/genética , Álcalis , Plantas/metabolismo , Plantas/genética , Adaptação Fisiológica/genética
11.
BMC Plant Biol ; 24(1): 338, 2024 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-38664642

RESUMO

Proper pericarp thickness protects the maize kernel against pests and diseases, moreover, thinner pericarp improves the eating quality in fresh corn. In this study, we aimed to investigate the dynamic changes in maize pericarp during kernel development and identified the major quantitative trait loci (QTLs) for maize pericarp thickness. It was observed that maize pericarp thickness first increased and then decreased. During the growth and formation stages, the pericarp thickness gradually increased and reached the maximum, after which it gradually decreased and reached the minimum during maturity. To identify the QTLs for pericarp thickness, a BC4F4 population was constructed using maize inbred lines B73 (recurrent parent with thick pericarp) and Baimaya (donor parent with thin pericarp). In addition, a high-density genetic map was constructed using maize 10 K SNP microarray. A total of 17 QTLs related to pericarp thickness were identified in combination with the phenotypic data. The results revealed that the heritability of the thickness of upper germinal side of pericarp (UG) was 0.63. The major QTL controlling UG was qPT1-1, which was located on chromosome 1 (212,215,145-212,948,882). The heritability of the thickness of upper abgerminal side of pericarp (UA) was 0.70. The major QTL controlling UA was qPT2-1, which was located on chromosome 2 (2,550,197-14,732,993). In addition, a combination of functional annotation, DNA sequencing analysis and quantitative real-time PCR (qPCR) screened two candidate genes, Zm00001d001964 and Zm00001d002283, that could potentially control maize pericarp thickness. This study provides valuable insights into the improvement of maize pericarp thickness during breeding.


Assuntos
Mapeamento Cromossômico , Locos de Características Quantitativas , Zea mays , Locos de Características Quantitativas/genética , Zea mays/genética , Zea mays/anatomia & histologia , Zea mays/crescimento & desenvolvimento , Sementes/genética , Sementes/crescimento & desenvolvimento , Sementes/anatomia & histologia , Fenótipo , Cromossomos de Plantas/genética , Polimorfismo de Nucleotídeo Único
12.
J Transl Med ; 22(1): 387, 2024 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-38664746

RESUMO

BACKGROUND: Integrating quantitative trait loci (QTL) data related to molecular phenotypes with genome-wide association study (GWAS) data is an important post-GWAS strategic approach employed to identify disease-associated molecular features. Various types of molecular phenotypes have been investigated in neuropsychiatric disorders. However, these findings pertaining to distinct molecular features are often independent of each other, posing challenges for having an overview of the mapped genes. METHODS: In this study, we comprehensively summarized published analyses focusing on four types of risk-related molecular features (gene expression, splicing transcriptome, protein abundance, and DNA methylation) across five common neuropsychiatric disorders. Subsequently, we conducted supplementary analyses with the latest GWAS dataset and corresponding deficient molecular phenotypes using Functional Summary-based Imputation (FUSION) and summary data-based Mendelian randomization (SMR). Based on the curated and supplemented results, novel reliable genes and their functions were explored. RESULTS: Our findings revealed that eQTL exhibited superior ability in prioritizing risk genes compared to the other QTL, followed by sQTL. Approximately half of the genes associated with splicing transcriptome, protein abundance, and DNA methylation were successfully replicated by eQTL-associated genes across all five disorders. Furthermore, we identified 436 novel reliable genes, which enriched in pathways related with neurotransmitter transportation such as synaptic, dendrite, vesicles, axon along with correlations with other neuropsychiatric disorders. Finally, we identified ten multiple molecular involved regulation patterns (MMRP), which may provide valuable insights into understanding the contribution of molecular regulation network targeting these disease-associated genes. CONCLUSIONS: The analyses prioritized novel and reliable gene sets related with five molecular features based on published and supplementary results for five common neuropsychiatric disorders, which were missed in the original GWAS analysis. Besides, the involved MMRP behind these genes could be given priority for further investigation to elucidate the pathogenic molecular mechanisms underlying neuropsychiatric disorders in future studies.


Assuntos
Metilação de DNA , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Transtornos Mentais , Fenótipo , Locos de Características Quantitativas , Humanos , Locos de Características Quantitativas/genética , Transtornos Mentais/genética , Metilação de DNA/genética , Análise da Randomização Mendeliana , Transcriptoma/genética
13.
Sci Rep ; 14(1): 8708, 2024 04 15.
Artigo em Inglês | MEDLINE | ID: mdl-38622173

RESUMO

Recent work has revealed an important role for rare, incompletely penetrant inherited coding variants in neurodevelopmental disorders (NDDs). Additionally, we have previously shown that common variants contribute to risk for rare NDDs. Here, we investigate whether common variants exert their effects by modifying gene expression, using multi-cis-expression quantitative trait loci (cis-eQTL) prediction models. We first performed a transcriptome-wide association study for NDDs using 6987 probands from the Deciphering Developmental Disorders (DDD) study and 9720 controls, and found one gene, RAB2A, that passed multiple testing correction (p = 6.7 × 10-7). We then investigated whether cis-eQTLs modify the penetrance of putatively damaging, rare coding variants inherited by NDD probands from their unaffected parents in a set of 1700 trios. We found no evidence that unaffected parents transmitting putatively damaging coding variants had higher genetically-predicted expression of the variant-harboring gene than their child. In probands carrying putatively damaging variants in constrained genes, the genetically-predicted expression of these genes in blood was lower than in controls (p = 2.7 × 10-3). However, results for proband-control comparisons were inconsistent across different sets of genes, variant filters and tissues. We find limited evidence that common cis-eQTLs modify penetrance of rare coding variants in a large cohort of NDD probands.


Assuntos
Transtornos do Neurodesenvolvimento , Polimorfismo de Nucleotídeo Único , Criança , Humanos , Penetrância , Locos de Características Quantitativas/genética , Transtornos do Neurodesenvolvimento/genética , Transcriptoma
14.
BMC Plant Biol ; 24(1): 290, 2024 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-38627629

RESUMO

BACKGROUND: Flesh firmness is a critical factor that influences fruit storability, shelf-life and consumer's preference as well. However, less is known about the key genetic factors that are associated with flesh firmness in fresh fruits like watermelon. RESULTS: In this study, through bulk segregant analysis (BSA-seq), we identified a quantitative trait locus (QTL) that influenced variations in flesh firmness among recombinant inbred lines (RIL) developed from cross between the Citrullus mucosospermus accession ZJU152 with hard-flesh and Citrullus lanatus accession ZJU163 with soft-flesh. Fine mapping and sequence variations analyses revealed that ethylene-responsive factor 1 (ClERF1) was the most likely candidate gene for watermelon flesh firmness. Furthermore, several variations existed in the promoter region between ClERF1 of two parents, and significantly higher expressions of ClERF1 were found in hard-flesh ZJU152 compared with soft-flesh ZJU163 at key developmental stages. DUAL-LUC and GUS assays suggested much stronger promoter activity in ZJU152 over ZJU163. In addition, the kompetitive allele-specific PCR (KASP) genotyping datasets of RIL populations and germplasm accessions further supported ClERF1 as a possible candidate gene for fruit flesh firmness variability and the hard-flesh genotype might only exist in wild species C. mucosospermus. Through yeast one-hybrid (Y1H) and dual luciferase assay, we found that ClERF1 could directly bind to the promoters of auxin-responsive protein (ClAux/IAA) and exostosin family protein (ClEXT) and positively regulated their expressions influencing fruit ripening and cell wall biosynthesis. CONCLUSIONS: Our results indicate that ClERF1 encoding an ethylene-responsive factor 1 is associated with flesh firmness in watermelon and provide mechanistic insight into the regulation of flesh firmness, and the ClERF1 gene is potentially applicable to the molecular improvement of fruit-flesh firmness by design breeding.


Assuntos
Citrullus , Citrullus/genética , Citrullus/metabolismo , Melhoramento Vegetal , Locos de Características Quantitativas/genética , Frutas/genética , Etilenos/metabolismo , Regiões Promotoras Genéticas/genética
15.
Physiol Plant ; 176(2): e14301, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38629128

RESUMO

Salt stress is one of the major factors that limits rice production. Therefore, identification of salt-tolerant alleles from wild rice is important for rice breeding. In this study, we constructed a set of chromosome segment substitution lines (CSSLs) using wild rice as the donor parent and cultivated rice Nipponbare (Nip) as the recurrent parent. Salt tolerance germinability (STG) was evaluated, and its association with genotypes was determined using this CSSL population. We identified 17 QTLs related to STG. By integrating the transcriptome and genome data, four candidate genes were identified, including the previously reported AGO2 and WRKY53. Compared with Nip, wild rice AGO2 has a structure variation in its promoter region and the expression levels were upregulated under salt treatments; wild rice WRKY53 also has natural variation in its promoter region, and the expression levels were downregulated under salt treatments. Wild rice AGO2 and WRKY53 alleles have combined effects for improving salt tolerance at the germination stage. One CSSL line, CSSL118 that harbors these two alleles was selected. Compared with the background parent Nip, CSSL118 showed comprehensive salt tolerance and higher yield, with improved transcript levels of reactive oxygen species scavenging genes. Our results provided promising genes and germplasm resources for future rice salt tolerance breeding.


Assuntos
Genes de Plantas , Oryza , Melhoramento Vegetal , Tolerância ao Sal , Oryza/anatomia & histologia , Oryza/genética , Oryza/crescimento & desenvolvimento , Tolerância ao Sal/genética , Cromossomos de Plantas/genética , Alelos , Melhoramento Vegetal/métodos , Locos de Características Quantitativas/genética , Genótipo , Transcriptoma , Genoma de Planta/genética , Regiões Promotoras Genéticas , Regulação da Expressão Gênica de Plantas , Germinação , Brotos de Planta , Raízes de Plantas , Técnicas de Genotipagem , Polimorfismo Genético , Fenótipo
16.
Cell Genom ; 4(4): 100538, 2024 Apr 10.
Artigo em Inglês | MEDLINE | ID: mdl-38565144

RESUMO

Nearly all trait-associated variants identified in genome-wide association studies (GWASs) are noncoding. The cis regulatory effects of these variants have been extensively characterized, but how they affect gene regulation in trans has been the subject of fewer studies because of the difficulty in detecting trans-expression quantitative loci (eQTLs). We developed trans-PCO for detecting trans effects of genetic variants on gene networks. Our simulations demonstrate that trans-PCO substantially outperforms existing trans-eQTL mapping methods. We applied trans-PCO to two gene expression datasets from whole blood, DGN (N = 913) and eQTLGen (N = 31,684), and identified 14,985 high-quality trans-eSNP-module pairs associated with 197 co-expression gene modules and biological processes. We performed colocalization analyses between GWAS loci of 46 complex traits and the trans-eQTLs. We demonstrated that the identified trans effects can help us understand how trait-associated variants affect gene regulatory networks and biological pathways.


Assuntos
Estudo de Associação Genômica Ampla , Locos de Características Quantitativas , Locos de Características Quantitativas/genética , Regulação da Expressão Gênica/genética , Redes Reguladoras de Genes/genética , Fenótipo
17.
Sci Rep ; 14(1): 7694, 2024 04 02.
Artigo em Inglês | MEDLINE | ID: mdl-38565889

RESUMO

The proteome holds great potential as an intermediate layer between the genome and phenome. Previous protein quantitative trait locus studies have focused mainly on describing the effects of common genetic variations on the proteome. Here, we assessed the impact of the common and rare genetic variations as well as the copy number variants (CNVs) on 326 plasma proteins measured in up to 500 individuals. We identified 184 cis and 94 trans signals for 157 protein traits, which were further fine-mapped to credible sets for 101 cis and 87 trans signals for 151 proteins. Rare genetic variation contributed to the levels of 7 proteins, with 5 cis and 14 trans associations. CNVs were associated with the levels of 11 proteins (7 cis and 5 trans), examples including a 3q12.1 deletion acting as a hub for multiple trans associations; and a CNV overlapping NAIP, a sensor component of the NAIP-NLRC4 inflammasome which is affecting pro-inflammatory cytokine interleukin 18 levels. In summary, this work presents a comprehensive resource of genetic variation affecting the plasma protein levels and provides the interpretation of identified effects.


Assuntos
Estudo de Associação Genômica Ampla , Proteoma , Humanos , Proteoma/genética , Estônia , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas/genética , Proteínas Sanguíneas/genética , Variações do Número de Cópias de DNA/genética
18.
Genes (Basel) ; 15(4)2024 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-38674350

RESUMO

Seed dormancy is a life adaptation trait exhibited by plants in response to environmental changes during their growth and development. The dormancy of commercial seeds is the key factor affecting seed quality. Eggplant seed dormancy is controlled by quantitative trait loci (QTLs), but reliable QTLs related to eggplant dormancy are still lacking. In this study, F2 populations obtained through the hybridization of paternally inbred lines with significant differences in dormancy were used to detect regulatory sites of dormancy in eggplant seeds. Three QTLs (dr1.1, dr2.1, and dr6.1) related to seed dormancy were detected on three chromosomes of eggplant using the QTL-Seq technique. By combining nonsynonymous sites within the candidate regions and gene functional annotation analysis, nine candidate genes were selected from three QTL candidate regions. According to the germination results on the eighth day, the male parent was not dormant, but the female parent was dormant. Quantitative real-time polymerase chain reaction (qRT-PCR) was used to verify the expression of nine candidate genes, and the Smechr0201082 gene showed roughly the same trend as that in the phenotypic data. We proposed Smechr0201082 as the potential key gene involved in regulating the dormancy of eggplant seeds. The results of seed experiments with different concentrations of gibberellin A3 (GA3) showed that, within a certain range, the higher the gibberellin concentration, the earlier the emergence and the higher the germination rate. However, higher concentrations of GA3 may have potential effects on eggplant seedlings. We suggest the use of GA3 at a concentration of 200-250 mg·L-1 to treat dormant seeds. This study provides a foundation for the further exploration of genes related to the regulation of seed dormancy and the elucidation of the molecular mechanism of eggplant seed dormancy and germination.


Assuntos
Germinação , Dormência de Plantas , Locos de Características Quantitativas , Sementes , Solanum melongena , Solanum melongena/genética , Solanum melongena/crescimento & desenvolvimento , Locos de Características Quantitativas/genética , Dormência de Plantas/genética , Sementes/genética , Sementes/crescimento & desenvolvimento , Germinação/genética , Regulação da Expressão Gênica de Plantas , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Mapeamento Cromossômico , Fenótipo , Genes de Plantas/genética
19.
Plant Dis ; 108(4): 1062-1072, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38640452

RESUMO

Wheat powdery mildew, caused by the biotrophic fungus Blumeria graminis f. sp. tritici (Bgt), is one of the most devastating diseases affecting wheat throughout the world. Breeding and growing resistant wheat cultivars is one of the most economic and effective methods to control the disease, and as such, identifying and mapping the new and effective resistance genes is critical. Baidatou, a Chinese wheat landrace, shows excellent field resistance to powdery mildew. To identify the resistance gene(s) in Baidatou, 170 F7:8 recombinant inbred lines (RILs) derived from the cross Mingxian 169/Baidatou were evaluated for powdery mildew response at the adult-plant stage in the experimental fields in Yangling (YL) of Shaanxi Province and Tianshui (TS) in Gansu Province in 2019, 2020, and 2021. The relative area under disease progress curve (rAUDPC) of Mingxian 169/Baidatou F7:8 RILs indicated that the resistance of Baidatou to powdery mildew was controlled by quantitative trait loci (QTLs). Based on bulk segregation analysis combined with the 660K single nucleotide polymorphism (SNP) array and genotyping by target sequencing (16K SNP) of the entire RIL population, two QTLs, QPmbdt.nwafu-2AS and QPmbdt.nwafu-3AS, were identified, and these accounted for up to 44.5% of the phenotypic variation. One of the QTLs was located on the 3.32 cM genetic interval on wheat chromosome 2AS between the kompetitive allele-specific PCR markers AX-111012288 and AX_174233809, and another was located on the 9.6 cM genetic interval on chromosome 3AS between the SNP markers 3A_684044820 and 3A_686681822. These markers could be useful for successful breeding of powdery mildew resistance in wheat.


Assuntos
Ascomicetos , Mapeamento Cromossômico , Resistência à Doença , Doenças das Plantas , Locos de Características Quantitativas , Triticum , Triticum/genética , Triticum/microbiologia , Doenças das Plantas/microbiologia , Doenças das Plantas/genética , Doenças das Plantas/imunologia , Locos de Características Quantitativas/genética , Resistência à Doença/genética , Ascomicetos/fisiologia , Cromossomos de Plantas/genética , China , Melhoramento Vegetal
20.
BMC Plant Biol ; 24(1): 316, 2024 Apr 23.
Artigo em Inglês | MEDLINE | ID: mdl-38654195

RESUMO

BACKGROUND: Salt stress significantly reduces soybean yield. To improve salt tolerance in soybean, it is important to mine the genes associated with salt tolerance traits. RESULTS: Salt tolerance traits of 286 soybean accessions were measured four times between 2009 and 2015. The results were associated with 740,754 single nucleotide polymorphisms (SNPs) to identify quantitative trait nucleotides (QTNs) and QTN-by-environment interactions (QEIs) using three-variance-component multi-locus random-SNP-effect mixed linear model (3VmrMLM). As a result, eight salt tolerance genes (GmCHX1, GsPRX9, Gm5PTase8, GmWRKY, GmCHX20a, GmNHX1, GmSK1, and GmLEA2-1) near 179 significant and 79 suggested QTNs and two salt tolerance genes (GmWRKY49 and GmSK1) near 45 significant and 14 suggested QEIs were associated with salt tolerance index traits in previous studies. Six candidate genes and three gene-by-environment interactions (GEIs) were predicted to be associated with these index traits. Analysis of four salt tolerance related traits under control and salt treatments revealed six genes associated with salt tolerance (GmHDA13, GmPHO1, GmERF5, GmNAC06, GmbZIP132, and GmHsp90s) around 166 QEIs were verified in previous studies. Five candidate GEIs were confirmed to be associated with salt stress by at least one haplotype analysis. The elite molecular modules of seven candidate genes with selection signs were extracted from wild soybean, and these genes could be applied to soybean molecular breeding. Two of these genes, Glyma06g04840 and Glyma07g18150, were confirmed by qRT-PCR and are expected to be key players in responding to salt stress. CONCLUSIONS: Around the QTNs and QEIs identified in this study, 16 known genes, 6 candidate genes, and 8 candidate GEIs were found to be associated with soybean salt tolerance, of which Glyma07g18150 was further confirmed by qRT-PCR.


Assuntos
Interação Gene-Ambiente , Genes de Plantas , Glycine max , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas , Tolerância ao Sal , Glycine max/genética , Glycine max/fisiologia , Tolerância ao Sal/genética , Locos de Características Quantitativas/genética , Fenótipo
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