genetic dissection
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2022 ◽  
Vol 2 (1) ◽  
Author(s):  
Yasin Topcu ◽  
Savithri U. Nambeesan ◽  
Esther van der Knaap

AbstractBlossom-end rot (BER) is a devastating physiological disorder affecting vegetable production worldwide. Extensive research into the physiological aspects of the disorder has demonstrated that the underlying causes of BER are associated with perturbed calcium (Ca2+) homeostasis and irregular watering conditions in predominantly cultivated accessions. Further, Reactive Oxygen Species (ROS) are critical players in BER development which, combined with unbalanced Ca2+ concentrations, greatly affect the severity of the disorder. The availability of a high-quality reference tomato genome as well as the whole genome resequencing of many accessions has recently permitted the genetic dissection of BER in segregating populations derived from crosses between cultivated tomato accessions. This has led to the identification of five loci contributing to BER from several studies. The eventual cloning of the genes contributing to BER would result in a deeper understanding of the molecular bases of the disorder. This will undoubtedly create crop improvement strategies for tomato as well as many other vegetables that suffer from BER.


Author(s):  
Courtney E Petersen ◽  
Benjamin A Tripoli ◽  
Todd A Schoborg ◽  
Jeremy T Smyth

Heart failure is often preceded by pathological cardiac hypertrophy, a thickening of the heart musculature driven by complex gene regulatory and signaling processes. The Drosophila heart has great potential as a genetic model for deciphering the underlying mechanisms of cardiac hypertrophy. However, current methods for evaluating hypertrophy of the Drosophila heart are laborious and difficult to carry out reproducibly. Here we demonstrate that micro-computerized tomography (microCT) is an accessible, highly reproducible method for non-destructive, quantitative analysis of Drosophila heart morphology and size. To validate our microCT approach for analyzing Drosophila cardiac hypertrophy, we show that expression of constitutively active Ras (Ras85DV12), previously shown to cause hypertrophy of the fly heart, results in significant thickening of both adult and larval heart walls when measured from microCT images. We then show using microCT analysis that genetic upregulation of store-operated Ca2+ entry (SOCE) driven by expression of constitutively active Stim (StimCA) or Orai (OraiCA) proteins also results in significant hypertrophy of the Drosophila heart, through a process that specifically depends on Orai Ca2+ influx channels. Intravital imaging of heart contractility revealed significantly reduced end diastolic and systolic dimensions in StimCA and OraiCA expressing hearts, consistent with the hypertrophic phenotype. These results demonstrate that increased SOCE activity is an important driver of hypertrophic cardiomyocyte growth, and demonstrate how microCT analysis combined with tractable genetic tools in Drosophila can be used to delineate molecular signaling processes that underlie cardiac hypertrophy and heart failure.


Genes ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 4
Author(s):  
Maria Pina Concas ◽  
Alessandra Minelli ◽  
Susanna Aere ◽  
Anna Morgan ◽  
Paola Tesolin ◽  
...  

Human personality (i.e., temperament and character) is a complex trait related to mental health, influenced by genetic and environmental factors. Despite the efforts performed during the past decades, its genetic background is only just beginning to be identified. With the aim of dissecting the genetic basis of temperament, we performed a Genome-Wide Association Study (GWAS) on Cloninger’s Temperament and Character Inventory in 587 individuals belonging to different Italian genetic isolates. Data analysis led to the identification of four new genes associated with different temperament scales, such as Novelty Seeking (NS), Harm Avoidance (HA), and Reward Dependence (RD). In detail, we identified suggestive and significant associations between: MAGI2 (highest p-value = 9.14 × 10−8), a gene already associated with schizophrenia and depressive disorder, and the NS–Extravagance scale; CALCB (highest p-value = 4.34 × 10−6), a gene likely involved in the behavioral evolution from wild wolf to domestic dog, and the NS–Disorderliness scale; BTBD3 (highest p-value = 2.152 × 10−8), a gene already linked to obsessive–compulsive disorder, and the HA–Fatigability scale; PRKN (highest p-value = 8.27 × 10−9), a gene described for early onset Parkinson’s disease, and the RD scale. Our work provides new relevant insights into the genetics of temperament, helping to elucidate the molecular basis of psychiatric disorders.


Author(s):  
Melanie B Abrams ◽  
Julie N Chuong ◽  
Faisal AlZaben ◽  
Claire A Dubin ◽  
Jeffrey M Skerker ◽  
...  

Abstract Decades of successes in statistical genetics have revealed the molecular underpinnings of traits as they vary across individuals of a given species. But standard methods in the field can’t be applied to divergences between reproductively isolated taxa. Genome-wide reciprocal hemizygosity mapping (RH-seq), a mutagenesis screen in an inter-species hybrid background, holds promise as a method to accelerate the progress of interspecies genetics research. Here we describe an improvement to RH-seq in which mutants harbor barcodes for cheap and straightforward sequencing after selection in a condition of interest. As a proof of concept for the new tool, we carried out genetic dissection of the difference in thermotolerance between two reproductively isolated budding yeast species. Experimental screening identified dozens of candidate loci at which variation between the species contributed to the thermotolerance trait. Hits were enriched for mitosis genes and other housekeeping factors, and among them were multiple loci with robust sequence signatures of positive selection. Together, these results shed new light on the mechanisms by which evolution solved the problems of cell survival and division at high temperature in the yeast clade, and they illustrate the power of the barcoded RH-seq approach.


Heredity ◽  
2021 ◽  
Author(s):  
Xinyao He ◽  
Muhammad Rezaul Kabir ◽  
Krishna K. Roy ◽  
Felix Marza ◽  
Aakash Chawade ◽  
...  

AbstractWheat head blast is a dangerous fungal disease in South America and has recently spread to Bangladesh and Zambia, threatening wheat production in those regions. Host resistance as an economical and environment-friendly management strategy has been heavily relied on, and understanding the resistance loci in the wheat genome is very helpful to resistance breeding. In the current study, two recombinant inbred line (RIL) populations, Alondra/Milan (with 296 RILs) and Caninde#2/Milan-S (with 254 RILs and Milan-S being a susceptible variant of Milan), were used for mapping QTL associated with head blast resistance in field experiments. Phenotyping was conducted in Quirusillas and Okinawa, Bolivia, and in Jashore, Bangladesh, during the 2017–18 and 2018–19 cropping cycles. The DArTseq® technology was employed to genotype the lines, along with four STS markers in the 2NS region. A QTL with consistent major effects was mapped on the 2NS/2AS translocation region in both populations, explaining phenotypic variation from 16.7 to 79.4% across experiments. Additional QTL were detected on chromosomes 2DL, 7AL, and 7DS in the Alondra/Milan population, and 2BS, 4AL, 5AS, 5DL, 7AS, and 7AL in the Caninde#2/Milan-S population, all showing phenotypic effects <10%. The results corroborated the important role of the 2NS/2AS translocation on WB resistance and identified a few novel QTL for possible deployment in wheat breeding. The low phenotypic effects of the non-2NS QTL warrantee further investigation for novel QTL with higher and more stable effects against WB, to alleviate the heavy reliance on 2NS-based resistance.


Rice ◽  
2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Zhaoyuan Pan ◽  
Bin Tan ◽  
Guiyuan Cao ◽  
Rongqi Zheng ◽  
Meng Liu ◽  
...  

AbstractLow-temperature germinability (LTG) is an important agronomic trait that can affect the planting time, planting area, and grain yield of staple crops, such as rice. However, the genetic mechanism of LTG is still unclear. In this study, a multi-parental permanent population with 208 single segment substitution lines (SSSLs) was used to conduct a genetic dissection for LTG across four cropping seasons. LTG was a typical quantitative trait with a high combined broad-sense heritability of 0.71. By comparison with the recipient parent, Huajingxian74, 24 SSSLs were identified as carrying LTG QTLs, which were further merged into integrated QTLs with shorter genetic distances by substitution mapping. Finally, 14 LTG QTLs were mapped on ten chromosomes, including seven positive-effect and seven negative-effect QTLs, with additive effect contributions ranging from 19.2 to 39.9%. qLTG3a, a main-effect and novel QTL, was confirmed by bulk segregant analysis using an F2 segregating population, and five key recombinants were selected to develop F3 populations for progeny testing. Marker-trait association analysis fine mapped qLTG3a to a 332.7-kb physical region between markers M6026 and M6341. Within this interval, 40 annotated genes were revealed, and three genes (Os03g0213300, Os03g0214400, and Os03g0214600) were considered as pivotal candidate genes for qLTG3a based on their sequence variations and expression patterns. Besides low temperature, qLTG3a can also enhance seed germination under standard temperature and osmotic stress. In summary, this study identified some genetic factors regulating LTG and opened a new window for breeding elite direct-seeded rice varieties. It will help reduce the climate risk in the production process of rice, which is of great significance to ensuring food security.


Author(s):  
Maria Fitzgerald

Patrick (Pat) Wall was a neurophysiologist and true pioneer in the science of pain. He discovered that the sensory information arising from receptors in our body, such as those for touch and heat, could be modified, or ‘gated’, in the spinal cord by other sensory inputs and also by information descending from the brain; this meant, as is now well recognized, that the final sensory experience is not necessarily predictable from the original pain-eliciting sensory input. He used this to explain the poor relationship between injury and pain, and to illustrate the fallacy of judging what someone ‘should’ be feeling from the sensory input alone. In 1969, together with his colleague, Ron Melzack, Pat proposed the ‘gate control theory of pain’ and the circuit diagram that summarized how central spinal cord circuits can modulate sensory inputs. Later on, he began to regret that ‘goddamned diagram’, which had come to dominate his life and work, but, like all great models, it paved the way for the future. Now, over 50 years after it was first published, molecular genetic dissection of dorsal horn neuronal circuitry has indisputably confirmed that sensory inputs are indeed ‘gated’ in the spinal cord dorsal horn. Through a career that started with a medical degree in Oxford, followed by almost 20 years at Yale and MIT in the USA, and continued at University College London, Pat Wall was a highly influential, critical, creative and original thinker who revolutionized our understanding of the relationship between injury and pain, and who also became a champion for all who suffered from chronic pain.


2021 ◽  
Vol 17 (S2) ◽  
Author(s):  
Pinghan Zhao ◽  
Carl Grant Mangleburg ◽  
Ismael Al‐Ramahi ◽  
Juan Botas ◽  
Joshua M Shulman

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