The Molecular Nature and Cytological Consequences of Genome Expansion in the Lolium/Festuca Complex

2000 ◽  
pp. 231-231
Author(s):  
Jonathan Head ◽  
John W. Forster ◽  
Glyn Jenkins
Keyword(s):  
Genome Expansion ◽  
Molecular Nature

scholarly journals Cis-Elements Governing Trinucleotide Repeat Instability in Saccharomyces cerevisiae

Genetics ◽  
2001 ◽  
Vol 157 (4) ◽  
pp. 1569-1579 ◽  
Author(s):  
Michael L Rolfsmeier ◽  
Michael J Dixon ◽  
Luis Pessoa-Brandão ◽  
Richard Pelletier ◽  
Juan José Miret ◽  
...  
Keyword(s):  
Saccharomyces Cerevisiae ◽  
Dna Repair ◽  
Sequence Analysis ◽  
Trinucleotide Repeat ◽  
Model Systems ◽  
Sequence Specificity ◽  
Cis Elements ◽  
Frequent Mutations ◽  
Yeast Genetic ◽  
Molecular Nature

Abstract Trinucleotide repeat (TNR) instability in humans is governed by unique cis-elements. One element is a threshold, or minimal repeat length, conferring frequent mutations. Since thresholds have not been directly demonstrated in model systems, their molecular nature remains uncertain. Another element is sequence specificity. Unstable TNR sequences are almost always CNG, whose hairpin-forming ability is thought to promote instability by inhibiting DNA repair. To understand these cis-elements further, TNR expansions and contractions were monitored by yeast genetic assays. A threshold of ∼15–17 repeats was observed for CTG expansions and contractions, indicating that thresholds function in organisms besides humans. Mutants lacking the flap endonuclease Rad27p showed little change in the expansion threshold, suggesting that this element is not altered by the presence or absence of flap processing. CNG or GNC sequences yielded frequent mutations, whereas A-T rich sequences were substantially more stable. This sequence analysis further supports a hairpin-mediated mechanism of TNR instability. Expansions and contractions occurred at comparable rates for CTG tract lengths between 15 and 25 repeats, indicating that expansions can comprise a significant fraction of mutations in yeast. These results indicate that several unique cis-elements of human TNR instability are functional in yeast.

scholarly journals POLRMT mutations impair mitochondrial transcription causing neurological disease

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Monika Oláhová ◽  
Bradley Peter ◽  
Zsolt Szilagyi ◽  
Hector Diaz-Maldonado ◽  
Meenakshi Singh ◽  
...  
Keyword(s):  
Progressive External Ophthalmoplegia ◽  
Global Developmental Delay ◽  
Disease Mechanism ◽  
Mitochondrial Transcription ◽  
Functional Studies ◽  
Mtdna Deletions ◽  
Molecular Nature ◽  
Important Disease

AbstractWhile >300 disease-causing variants have been identified in the mitochondrial DNA (mtDNA) polymerase γ, no mitochondrial phenotypes have been associated with POLRMT, the RNA polymerase responsible for transcription of the mitochondrial genome. Here, we characterise the clinical and molecular nature of POLRMT variants in eight individuals from seven unrelated families. Patients present with global developmental delay, hypotonia, short stature, and speech/intellectual disability in childhood; one subject displayed an indolent progressive external ophthalmoplegia phenotype. Massive parallel sequencing of all subjects identifies recessive and dominant variants in the POLRMT gene. Patient fibroblasts have a defect in mitochondrial mRNA synthesis, but no mtDNA deletions or copy number abnormalities. The in vitro characterisation of the recombinant POLRMT mutants reveals variable, but deleterious effects on mitochondrial transcription. Together, our in vivo and in vitro functional studies of POLRMT variants establish defective mitochondrial transcription as an important disease mechanism.

scholarly journals Gastrin and the Moderate Hypergastrinemias

2021 ◽  
Vol 22 (13) ◽  
pp. 6977
Author(s):  
Jens F. Rehfeld
Keyword(s):  
Helicobacter Pylori ◽  
Plasma Concentrations ◽  
Antral Mucosa ◽  
Serum Concentrations ◽  
Health Issues ◽  
Gastrin Secretion ◽  
Mucosal Growth ◽  
Early Phases ◽  
Molecular Nature ◽  
Concentration Levels

The antral hormone gastrin potently regulates gastric acid secretion and fundic mucosal growth. Consequently, appropriate gastrin secretion and plasma concentrations are important for the early phases of digestion. This review describes as the first premise the normal biogenesis of gastrin in the antral mucosa, but also mentions the extraantral expression. Subsequently, the molecular nature and concentration levels of gastrin in serum or plasma are overviewed. Third, assays for accurate measurements of plasma or serum concentrations are commented. Finally, the problem of moderate hypergastrinemia due to Helicobacter pylori infections and/or treatment with proton-pump inhibitors (PPI) is discussed. The review concludes that accurate measurement of the true concentrations of bioactive gastrins in plasma is important. Moreover, it suggests that moderate hypergastrinemias are also essential health issues that require serious attention.

scholarly journals Protein synthesis in the dendrite

2002 ◽  
Vol 357 (1420) ◽  
pp. 521-529 ◽  
Author(s):  
Shao Jun Tang ◽  
Erin M. Schuman
Keyword(s):  
Protein Synthesis ◽  
Neural Plasticity ◽  
Messenger Rna ◽  
Mrna Translation ◽  
Synaptic Activity ◽  
Synaptic Proteins ◽  
Local Source ◽  
Synaptic Protein ◽  
Specific Proteins ◽  
Molecular Nature

In neurons, many proteins that are involved in the transduction of synaptic activity and the expression of neural plasticity are specifically localized at synapses. How these proteins are targeted is not clearly understood. One mechanism is synaptic protein synthesis. According to this idea, messenger RNA (mRNA) translation from the polyribosomes that are observed at the synaptic regions provides a local source of synaptic proteins. Although an increasing number of mRNA species has been detected in the dendrite, information about the synaptic synthesis of specific proteins in a physiological context is still limited. The physiological function of synaptic synthesis of specific proteins in synaptogenesis and neural plasticity expression remains to be shown. Experiments aimed at understanding the mechanisms and functions f synaptic protein synthesis might provide important information about the molecular nature of neural plasticity.

scholarly journals The Footprint of Genome Architecture in the Largest Genome Expansion in RNA Viruses

2013 ◽  
Vol 9 (7) ◽  
pp. e1003500 ◽  
Author(s):  
Chris Lauber ◽  
Jelle J. Goeman ◽  
Maria del Carmen Parquet ◽  
Phan Thi Nga ◽  
Eric J. Snijder ◽  
...  
Keyword(s):  
Rna Viruses ◽  
Genome Architecture ◽  
Genome Expansion

scholarly journals The Molecular Nature of the Hydrophilic Sulfur Prepared from Aqueous Sulfide and Sulfite (Selmi Sulfur Sol)

1989 ◽  
Vol 44 (5) ◽  
pp. 526-530 ◽  
Author(s):  
Ralf Steudel ◽  
Thomas Göbel ◽  
Gabriele Holdt
Keyword(s):  
Elemental Sulfur ◽  
Chemical Reactivity ◽  
Dry Weight ◽  
Reversed Phase ◽  
Ion Pair ◽  
Low Ph ◽  
Reversed Phase Hplc ◽  
Ion Pair Chromatography ◽  
Approximate Composition ◽  
Molecular Nature

Hydrophilic sulfur sols prepared by reaction of aqueous sulfide and sulfite at low pH have been studied by chemical analysis, ion-pair chromatography, and reversed-phase HPLC. The approximate composition of the sol is x(NaHSO4/Na2SO4) ·ySn · zNa2SmO6 with n = 6-10 and m = 4-16. The elemental sulfur Sn accounts for 17% and the polythionate sulfur for 10% of the dry weight (sulfate: 18%). On aging of the sol at 20°C the long-chain polythionates decompose to elemental sulfur and tetrathionate as well as pentathionate. The higher chemical reactivity of this sol compared to S8 is explained by the fact that 45% of the zero oxidation state sulfur (S°) are present as non-S8 molecules.

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