scholarly journals Mix and match: Patchwork domain evolution of the land plant-specific Ca2+-permeable mechanosensitive channel MCA

PLoS ONE ◽  
2021 ◽  
Vol 16 (4) ◽  
pp. e0249735
Author(s):  
Kanae Nishii ◽  
Michael Möller ◽  
Hidetoshi Iida
Keyword(s):  
Markov Models ◽  
De Novo ◽  
Land Plant ◽  
Mechanosensitive Channel ◽  
Gene Duplications ◽  
Cadmium Resistance ◽  
Domain Evolution ◽  
Evolutionary Event ◽  
Domain Profile ◽  
History Of

Multidomain proteins can have a complex evolutionary history that may involve de novo domain evolution, recruitment and / or recombination of existing domains and domain losses. Here, the domain evolution of the plant-specific Ca2+-permeable mechanosensitive channel protein, MID1-COMPLEMENTING ACTIVITY (MCA), was investigated. MCA, a multidomain protein, possesses a Ca2+-influx-MCAfunc domain and a PLAC8 domain. Profile Hidden Markov Models (HMMs) of domains were assessed in 25 viridiplantae proteomes. While PLAC8 was detected in plants, animals, and fungi, MCAfunc was found in streptophytes but not in chlorophytes. Full MCA proteins were only found in embryophytes. We identified the MCAfunc domain in all streptophytes including charophytes where it appeared in E3 ubiquitin ligase-like proteins. Our Maximum Likelihood (ML) analyses suggested that the MCAfunc domain evolved early in the history of streptophytes. The PLAC8 domain showed similarity to Plant Cadmium Resistance (PCR) genes, and the coupling of MCAfunc and PLAC8 seemed to represent a single evolutionary event. This combination is unique in MCA, and does not exist in other plant mechanosensitive channels. Within angiosperms, gene duplications increased the number of MCAs. Considering their role in mechanosensing in roots, MCA might be instrumental for the rise of land plants. This study provides a textbook example of de novo domain emergence, recombination, duplication, and losses, leading to the convergence of function of proteins in plants.

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 Current understanding on the Cambrian Explosion: questions and answers

PalZ ◽  
2021 ◽  
Author(s):  
Xingliang Zhang ◽  
Degan Shu
Keyword(s):  
Environmental Changes ◽  
Size Variation ◽  
Progressive Increase ◽  
Cambrian Explosion ◽  
Time Interval ◽  
Early Cambrian ◽  
Ecological Processes ◽  
Questions And Answers ◽  
Evolutionary Event ◽  
History Of

AbstractThe Cambrian Explosion by nature is a three-phased explosion of animal body plans alongside episodic biomineralization, pulsed change of generic diversity, body size variation, and progressive increase of ecosystem complexity. The Cambrian was a time of crown groups nested by numbers of stem groups with a high-rank taxonomy of Linnaean system (classes and above). Some stem groups temporarily succeeded while others were ephemeral and underrepresented by few taxa. The high number of stem groups in the early history of animals is a major reason for morphological gaps across phyla that we see today. Most phylum-level clades achieved their maximal disparity (or morphological breadth) during the time interval close to their first appearance in the fossil record during the early Cambrian, whereas others, principally arthropods and chordates, exhibit a progressive exploration of morphospace in subsequent Phanerozoic. The overall envelope of metazoan morphospace occupation was already broad in the early Cambrian though it did not reach maximal disparity nor has diminished significantly as a consequence of extinction since the Cambrian. Intrinsic and extrinsic causes were extensively discussed but they are merely prerequisites for the Cambrian Explosion. Without the molecular evolution, there could be no Cambrian Explosion. However, the developmental system is alone insufficient to explain Cambrian Explosion. Time-equivalent environmental changes were often considered as extrinsic causes, but the time coincidence is also insufficient to establish causality. Like any other evolutionary event, it is the ecology that make the Cambrian Explosion possible though ecological processes failed to cause a burst of new body plans in the subsequent evolutionary radiations. The Cambrian Explosion is a polythetic event in natural history and manifested in many aspects. No simple, single cause can explain the entire phenomenon.

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.

scholarly journals Peculiar Evolutionary History of miR390-Guided TAS3-Like Genes in Land Plants

2013 ◽  
Vol 2013 ◽  
pp. 1-14 ◽  
Author(s):  
Maria S. Krasnikova ◽  
Denis V. Goryunov ◽  
Alexey V. Troitsky ◽  
Andrey G. Solovyev ◽  
Lydmila V. Ozerova ◽  
...  
Keyword(s):  
Genomic Dna ◽  
Physcomitrella Patens ◽  
Land Plant ◽  
Plant Evolution ◽  
Marchantia Polymorpha ◽  
History Of ◽  
Molecular Machinery ◽  
Specific Mrnas ◽  
Land Plant Evolution ◽  
Phylogenetic Profiling

PCR-based approach was used as a phylogenetic profiling tool to probe genomic DNA samples from representatives of evolutionary distant moss taxa, namely, classes Bryopsida, Tetraphidopsida, Polytrichopsida, Andreaeopsida, and Sphagnopsida. We found relatives of allPhyscomitrella patensmiR390 and TAS3-like loci in these plant taxa excluding Sphagnopsida. Importantly, cloning and sequencing ofMarchantia polymorphagenomic DNA showed miR390 and TAS3-like sequences which were also found among genomic reads ofM. polymorphaat NCBI database. Our data suggest that the ancient plant miR390-dependent TAS molecular machinery firstly evolved to target AP2-like mRNAs in Marchantiophyta and only then both ARF- and AP2-specific mRNAs in mosses. The presented analysis shows that moss TAS3 families may undergone losses of tasiAP2 sites during evolution toward ferns and seed plants. These data confirm that miR390-guided genes coding for ARF- and AP2-specific ta-siRNAs have been gradually changed during land plant evolution.

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.

A fossil record of land plant origins from charophyte algae

Science ◽  
2021 ◽  
Vol 373 (6556) ◽  
pp. 792-796 ◽  
Author(s):  
Paul K. Strother ◽  
Clinton Foster
Keyword(s):  
Fossil Record ◽  
Evolutionary History ◽  
Phylogenetic Signal ◽  
Land Plant ◽  
Fossil Plants ◽  
Fossil Plant ◽  
Molecular Phylogenetic ◽  
History Of ◽  
Time Gap ◽  
Evolutionary Continuity

Molecular time trees indicating that embryophytes originated around 500 million years ago (Ma) during the Cambrian are at odds with the record of fossil plants, which first appear in the mid-Silurian almost 80 million years later. This time gap has been attributed to a missing fossil plant record, but that attribution belies the case for fossil spores. Here, we describe a Tremadocian (Early Ordovician, about 480 Ma) assemblage with elements of both Cambrian and younger embryophyte spores that provides a new level of evolutionary continuity between embryophytes and their algal ancestors. This finding suggests that the molecular phylogenetic signal retains a latent evolutionary history of the acquisition of the embryophytic developmental genome, a history that perhaps began during Ediacaran-Cambrian time but was not completed until the mid-Silurian (about 430 Ma).

De novo convulsive status epilepticus in patients with multiple sclerosis treated with dalfampridine

2018 ◽  
Vol 25 (4) ◽  
pp. 618-621 ◽  
Author(s):  
Emilie Panicucci ◽  
Mikael Cohen ◽  
Veronique Bourg ◽  
Fanny Rocher ◽  
Pierre Thomas ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Status Epilepticus ◽  
De Novo ◽  
Case Reports ◽  
Brain Magnetic Resonance Imaging ◽  
Convulsive Status Epilepticus ◽  
Biological Tests ◽  
History Of ◽  
Magnetic Resonance Imaging Mri ◽  
History Of Epilepsy

Background: Dalfampridine extended release (DAL) is a broad-spectrum voltage-gated potassium channel blocker that is indicated in multiple sclerosis to improve the nerve conduction of demyelinated axons. Seizures are a known side effect of DAL, which is contraindicated in patients with a history of epilepsy. Objective: Three cases of multiple sclerosis (MS) with de novo convulsive status epilepticus (CSE) probably related to dalfampridine administration are described. Methods: No patients had a history of seizures or renal impairment. Biological tests were normal. A brain magnetic resonance imaging (MRI) showed diffuse cortical and subcortical atrophy without active inflammatory lesions. Results: All three patients presented with CSE that was attributed to DAL and so was discontinued. Conclusion: These case reports illustrate that, aside from seizures, de novo CSE is a potential complication of MS patients treated with DAL.

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