scholarly journals NLR Genes Related Transcript Sets in Potato Cultivars Bearing Genetic Material of Wild Mexican Solanum Species

Agronomy ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. 2426
Author(s):  
Alex V. Kochetov ◽  
Dmitry A. Afonnikov ◽  
Nikolay Shmakov ◽  
Gennady V. Vasiliev ◽  
Olga Y. Antonova ◽  
...  
Keyword(s):  
Potato Breeding ◽  
Reference Genome ◽  
De Novo ◽  
Genetic Material ◽  
Solanum Species ◽  
Potato Cultivars ◽  
R Genes ◽  
Genes Expression ◽  
History Of ◽  
Cultivated Species

The long history of potato breeding includes the numerous introgressions of resistance genes from many wild species of South and Central America as well as from cultivated species into the breeding genepool. Most R genes belong to the NLR family with nucleotide-binding site–leucine-rich repeat. The aim of this research concerns an evaluation of NLR genes expression in transcriptomes of three potato cultivars (Evraziya, Siverskij, Sudarynya), which combine genetic material from wild and cultivated potato species, and each bears intragenic markers of RB/Rpi-blb1/Rpi-sto1 genes conferring broad-range resistance to late blight. The transcriptomes of the cultivars were compared before and 24 h after the Phytophthora infestans inoculation. The induction of RB/Rpi-blb1/Rpi-sto1 transcript after 24 h of inoculation was detected in the resistant cultivars Siverskij and Sudarynya but not in susceptible cv. Evraziya. This demonstrates the importance of transcriptomic assay for understanding the results of marker-assisted selection and phenotyping. Interestingly, assembling the transcriptomes de novo and analysis with NLR-parser tool revealed significant fractions of novel NLR genes with no homology to the reference genome (from 103 (cv. Siverskij) to 160 (S. stoloniferum, 30514/15). Comparison of novel NLRs demonstrated a relatively small intersection between the genotypes that coincided with their complex pedigrees with several interspecific hybridization events. These novel NLRs may facilitate the discovery of new efficient R genes.

SCAR markers of the R-genes and germplasm of wild Solanum species for breeding late blight-resistant potato cultivars

2011 ◽  
Vol 9 (2) ◽  
pp. 309-312 ◽  
Author(s):  
Ekaterina Sokolova ◽  
Artem Pankin ◽  
Maria Beketova ◽  
Maria Kuznetsova ◽  
Svetlana Spiglazova ◽  
...  
Keyword(s):  
Late Blight ◽  
Solanum Species ◽  
Potato Cultivars ◽  
R Genes ◽  
High Frequencies ◽  
Wild Solanum Species ◽  
Sequence Characterized Amplified Region ◽  
Broad Spectrum Resistance ◽  
New Races ◽  
Species Specific

New races of Phytophthora infestans rapidly defeat potato late blight (LB) resistance based on Solanum demissum germplasm, and breeders search for new sources of durable LB resistance. We developed and verified six sequence characterized amplified region markers recognizing the race-specific genes R1 and R3 of S. demissum and the broad-spectrum resistance gene RB of S. bulbocastanum and the germplasms of these species and used them to screen 209 accessions of 21 wild Solanum species. In addition to S. demissum, homologues of R1 and R3 were found in several species of series Demissa,Longipedicellata and diploid Tuberosa; R3 homologues were also detected in S. bulbocastanum,S. cardiophyllum and S. ehrenbergii. The RB homologues were found in a wider range of Solanum species. The markers of R1 and R3 genes reliably discerned between germplasms of S. tuberosum ssp. tuberosum and wild sources of LB resistance. Following introgression, the species-specific markers of demissum and bulbocastanum germplasm were rapidly lost, whereas the markers of R1 and R3 genes lasted through several meiotic generations and were maintained at high frequencies in modern potato cultivars. The presence of these markers in demissoid potato cultivars was significantly associated with LB resistance, presuming that both genes contribute to overall defence response.

scholarly journals R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report

2021 ◽  
pp. 123-130
Author(s):  
Anker Stubberud ◽  
Emer O’Connor ◽  
Erling Tronvik ◽  
Henry Houlden ◽  
Manjit Matharu
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Genetic Testing ◽  
Head Trauma ◽  
Cerebral Oedema ◽  
De Novo ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine ◽  
Wide Range ◽  
History Of

Mutations in the <i>CACNA1A</i> gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the <i>CACNA1A</i> gene (c.4055G&#x3e;A, p.R1352Q). The R1352Q <i>CACNA1A</i> variant shares the phenotype with other described <i>CACNA1A</i> mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.

scholarly journals Whole-Genome Sequencing and Characterization of Buffalo Genetic Resources: Recent Advances and Future Challenges

Animals ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 904
Author(s):  
Saif ur Rehman ◽  
Faiz-ul Hassan ◽  
Xier Luo ◽  
Zhipeng Li ◽  
Qingyou Liu
Keyword(s):  
Selective Breeding ◽  
Reference Genome ◽  
De Novo ◽  
Phenotypic Diversity ◽  
Molecular Data ◽  
Genomic Diversity ◽  
Production Performance ◽  
Phylogeographic Structure ◽  
Economic Significance ◽  
And Performance

The buffalo was domesticated around 3000–6000 years ago and has substantial economic significance as a meat, dairy, and draught animal. The buffalo has remained underutilized in terms of the development of a well-annotated and assembled reference genome de novo. It is mandatory to explore the genetic architecture of a species to understand the biology that helps to manage its genetic variability, which is ultimately used for selective breeding and genomic selection. Morphological and molecular data have revealed that the swamp buffalo population has strong geographical genomic diversity with low gene flow but strong phenotypic consistency, while the river buffalo population has higher phenotypic diversity with a weak phylogeographic structure. The availability of recent high-quality reference genome and genotyping marker panels has invigorated many genome-based studies on evolutionary history, genetic diversity, functional elements, and performance traits. The increasing molecular knowledge syndicate with selective breeding should pave the way for genetic improvement in the climatic resilience, disease resistance, and production performance of water buffalo populations globally.

scholarly journals In Search of Species-Specific SNPs in a Non-Model Animal (European Bison (Bison bonasus))—Comparison of De Novo and Reference-Based Integrated Pipeline of STACKS Using Genotyping-by-Sequencing (GBS) Data

Animals ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 2226
Author(s):  
Sazia Kunvar ◽  
Sylwia Czarnomska ◽  
Cino Pertoldi ◽  
Małgorzata Tokarska
Keyword(s):  
Reference Genome ◽  
De Novo ◽  
Bos Taurus ◽  
Model Organism ◽  
Genotyping By Sequencing ◽  
Model Organisms ◽  
European Bison ◽  
Model Animal ◽  
Pcr Duplicates ◽  
Species Specific

The European bison is a non-model organism; thus, most of its genetic and genomic analyses have been performed using cattle-specific resources, such as BovineSNP50 BeadChip or Illumina Bovine 800 K HD Bead Chip. The problem with non-specific tools is the potential loss of evolutionary diversified information (ascertainment bias) and species-specific markers. Here, we have used a genotyping-by-sequencing (GBS) approach for genotyping 256 samples from the European bison population in Bialowieza Forest (Poland) and performed an analysis using two integrated pipelines of the STACKS software: one is de novo (without reference genome) and the other is a reference pipeline (with reference genome). Moreover, we used a reference pipeline with two different genomes, i.e., Bos taurus and European bison. Genotyping by sequencing (GBS) is a useful tool for SNP genotyping in non-model organisms due to its cost effectiveness. Our results support GBS with a reference pipeline without PCR duplicates as a powerful approach for studying the population structure and genotyping data of non-model organisms. We found more polymorphic markers in the reference pipeline in comparison to the de novo pipeline. The decreased number of SNPs from the de novo pipeline could be due to the extremely low level of heterozygosity in European bison. It has been confirmed that all the de novo/Bos taurus and Bos taurus reference pipeline obtained SNPs were unique and not included in 800 K BovineHD BeadChip.

scholarly journals Reference genome and demographic history of the most endangered marine mammal, the vaquita

2020 ◽  
Author(s):  
Phillip A. Morin ◽  
Frederick I. Archer ◽  
Catherine D. Avila ◽  
Jennifer R. Balacco ◽  
Yury V. Bukhman ◽  
...  
Keyword(s):  
Marine Mammal ◽  
Reference Genome ◽  
Demographic History ◽  
History Of

Craniopharyngioma arising de novo in middle age

1997 ◽  
Vol 86 (6) ◽  
pp. 1046-1048 ◽  
Author(s):  
Marc S. Arginteanu ◽  
Karin Hague ◽  
Robert Zimmerman ◽  
Mark J. Kupersmith ◽  
John H. Shaiu ◽  
...  
Keyword(s):  
Magnetic Resonance Image ◽  
De Novo ◽  
Middle Age ◽  
Benign Tumors ◽  
Fetal Life ◽  
Content Type ◽  
Steady Growth ◽  
History Of ◽  
Sixth Decade ◽  
Fine Print

✓ The authors report the case of a 55-year-old woman who developed a symptomatic craniopharyngioma within 2 years of obtaining a normal magnetic resonance image of her brain. Craniopharyngiomas are histologically benign tumors. They are thought to arise from embryonic remnants of Rathke's pouch and sac and to manifest themselves clinically after a steady growth that commences in fetal life. To the authors' knowlege, this is the first report that documents a tumor arising de novo in the sixth decade of life. This report appears to challenge the concept of the origin and natural history of craniopharyngiomas.

Predictors Factors of Onset de Novo Heart failure after STEMI

2021 ◽  
Vol 28 (Supplement_1) ◽  
Author(s):  
S Abouradi ◽  
H Choukrani ◽  
A Maaroufi ◽  
A Drighil ◽  
R Habbal
Keyword(s):  
Heart Failure ◽  
De Novo ◽  
Microvascular Disease ◽  
Prior History ◽  
Killip Class ◽  
Funding Sources ◽  
Significant Difference ◽  
Primary Coronary Angioplasty ◽  
History Of ◽  
Predictor Factors

Abstract Funding Acknowledgements Type of funding sources: None. INTRODUCTION STEMI gets complicated very often by a heart failure (HF), which it is important to know associated factors. The aim of this study  was to determinate the predictor factors of onset of de novo HF after STEMI in patients with no prior history of heart failure recorded at baseline. METHODS A retrospective, descriptive study from 1 center in Morocco, including 210 patients hospitalized in a cardiology intensive care unit for STEMI from September 2019 to November 2020. The main outcomes were HF Killip class at hospital presentation and intra-hospital mortality. RESULTS The main age was 59.3 ± 7.02 and Sex ratio: 2, 86. The incidence of de novo HF at admission was higher in women (40, 4% vs. 29.5%, [OR 1, 61; 95%, [CI] 0, 83-3, 11). Forty-nine point eight percent were in Killip≥ 2. The method of early revascularization was Thrombolysis in 82, 3% compared to primary coronary angioplasty without significant difference in onset of the novo HF. There was no association of age, comorbidities, delay to hospital presentation and coronary involvement with incidence of onset of de novo HF.  Women had higher mortality than men with the novo HF (28, 6% vs. 20.5%; OR: 1, 55; 95%). CONCLUSION  Gender has appeared associated to onset of de novo HF after STEMI with a superiority of the female sex after controlling for others factors described in the literature. Anterior studies have related this to the increased prevalence of microvascular disease in women predisposing them to heart failure after STEMI.

scholarly journals The rare hemoglobin variant Hb Mizuho: report of a Swiss family and literature review

2021 ◽  
Author(s):  
Linet Njue ◽  
Cesare Medri ◽  
Peter Keller ◽  
Miriam Diepold ◽  
Behrouz Mansouri Taleghani ◽  
...  
Keyword(s):  
Literature Review ◽  
Hemolytic Anemia ◽  
De Novo ◽  
Clinical History ◽  
Molecular Techniques ◽  
De Novo Mutation ◽  
First Case ◽  
History Of ◽  
Transfusion Dependency ◽  
Unstable Hemoglobin

AbstractHb Mizuho is a very rare unstable hemoglobin; here, we describe the clinical history of three Swiss family members with Hb Mizuho together with a systematic review of the previously six published cases. The clinical history of the adult woman we report here is unique since this is the first Hb Mizuho presenting with Moyamoya complications and the first case reported with long-term erythrocyte exchange. The literature review showed that Hb Mizuho was mainly reported as a de novo mutation, with the exception of children descended from known cases. All published patients with this unstable hemoglobin showed severe hemolytic anemia with the exception of one; all were regularly transfused. Patients with higher HbF levels might require fewer transfusions. All patients underwent splenectomy at a median age of 4 years and had variable clinical improvement; some achieved complete resolution of transfusion dependency after splenectomy. Iron overload in Hb Mizuho patients seems to be mainly attributed to transfusions and has less to do with ineffective erythropoiesis. Diagnosis might be challenging; a normal hemoglobin electrophoresis should not rule out the diagnosis of unstable hemoglobin in patients with otherwise unexplained hemolytic anemia. This series shows the enormous utility of using molecular techniques for diagnosis.

Sign in / Sign up

Export Citation Format

Share Document