SNP discovery in nonmodel organisms: strand bias and base-substitution errors reduce conversion rates

2014 ◽  
Vol 15 (4) ◽  
pp. 723-736 ◽  
Author(s):  
Anders Gonçalves da Silva ◽  
William Barendse ◽  
James W. Kijas ◽  
Wes C. Barris ◽  
Sean McWilliam ◽  
...  
2020 ◽  
Vol 37 (11) ◽  
pp. 3258-3266 ◽  
Author(s):  
Eddie K H Ho ◽  
Fenner Macrae ◽  
Leigh C Latta ◽  
Peter McIlroy ◽  
Dieter Ebert ◽  
...  

Abstract The rate and spectrum of spontaneous mutations are critical parameters in basic and applied biology because they dictate the pace and character of genetic variation introduced into populations, which is a prerequisite for evolution. We use a mutation–accumulation approach to estimate mutation parameters from whole-genome sequence data from multiple genotypes from multiple populations of Daphnia magna, an ecological and evolutionary model system. We report extremely high base substitution mutation rates (µ-n,bs = 8.96 × 10−9/bp/generation [95% CI: 6.66–11.97 × 10−9/bp/generation] in the nuclear genome and µ-m,bs = 8.7 × 10−7/bp/generation [95% CI: 4.40–15.12 × 10−7/bp/generation] in the mtDNA), the highest of any eukaryote examined using this approach. Levels of intraspecific variation based on the range of estimates from the nine genotypes collected from three populations (Finland, Germany, and Israel) span 1 and 3 orders of magnitude, respectively, resulting in up to a ∼300-fold difference in rates among genomic partitions within the same lineage. In contrast, mutation spectra exhibit very consistent patterns across genotypes and populations, suggesting the mechanisms underlying the mutational process may be similar, even when the rates at which they occur differ. We discuss the implications of high levels of intraspecific variation in rates, the importance of estimating gene conversion rates using a mutation–accumulation approach, and the interacting factors influencing the evolution of mutation parameters. Our findings deepen our knowledge about mutation and provide both challenges to and support for current theories aimed at explaining the evolution of the mutation rate, as a trait, across taxa.


1989 ◽  
Vol 217 (1) ◽  
pp. 20-25 ◽  
Author(s):  
Sudhir Sahasrabudhe ◽  
Kumar Sambamurti ◽  
M. Zafri Humayun

1999 ◽  
Vol 82 (12) ◽  
pp. 1639-1643 ◽  
Author(s):  
Karim Chabane Lounes ◽  
Claudine Soria ◽  
Antoine Valognes ◽  
Marie France Turchini ◽  
Jaap Koopman ◽  
...  

SummaryA new congenital dysfibrinogen, Fibrinogen Bastia, was discovered in a 20-year-old woman with no clinical symptoms. The plasma thrombin-clotting time was severely prolonged. The functional plasma fibrinogen concentration was low (0.2 mg/ml), whereas the immunological concentration was normal (2.9 mg/ml). Purified fibrinogen Bastia displayed a markedly prolonged thrombin-clotting time related to a delayed thrombin-induced fibrin polymerization. Both the thrombin-clotting time and the fibrin polymerization were partially corrected by the addition of calcium ions. The anomaly of fibrinogen Bastia was found to be located in the γ-chain since by SDS-PAGE performed according to the method of Laemmli two γ-chains were detected, one normal and one with an apparently lower molecular weight. Furthermore, analysis of plasmin degradation products demonstrated that calcium ions only partially protect fibrinogen Bastia γ-chain against plasmin digestion, suggesting that the anomaly is located in the C-terminal part of the γ-chain. Sequence analysis of PCR-amplified genomic DNA fragments of the propositus demonstrated a single base substitution (G → T) in the exon VIII of the γ chain gene, resulting in the amino acid substitution 318 Asp (GAC) → Tyr (TAC). The PCR clones were recloned and 50% of them contained the mutation, indicating that the patient was heterozygous. These data indicate that residue Asp 318 is important for normal fibrin polymerization and the protective effect of calcium ions against plasmin degradation of the C-terminal part of the γ-chain.


Sensors ◽  
2020 ◽  
Vol 21 (1) ◽  
pp. 179
Author(s):  
Robert Neubeck ◽  
Mareike Stephan ◽  
Tobias Gaul ◽  
Bianca Weihnacht ◽  
Lars Schubert ◽  
...  

The operation efficiency and safety of pressure vessels in the oil and gas industry profits from an accurate knowledge about the inner filling distribution. However, an accurate and reliable estimation of the multi-phase height levels in such objects is a challenging task, especially when considering the high demands in practicability, robustness in harsh environments and safety regulations. Most common systems rely on impractical instrumentation, lack the ability to measure solid phases or require additional safety precautions due to their working principle. In this work, another possibility to determine height levels by attenuation tomography with guided elastic waves is proposed. The method uses a complete instrumentation on the outer vessel shell and is based on the energy conversion rates along the travel path of the guided waves. Noisy data and multiple measurements from sparsely distributed sensor networks are translated into filling levels with accuracies in the centimeter range by solving a constrained optimization problem. It was possible to simultaneously determine sand, water, and oil phases on a mock-up scale experiment, even for artificially created sand slopes. The accuracy was validated by artificial benchmarking for a horizontal vessel, giving references for constructing an affordable prototype system.


Genetics ◽  
2004 ◽  
Vol 166 (2) ◽  
pp. 661-668
Author(s):  
Mandy Kim ◽  
Erika Wolff ◽  
Tiffany Huang ◽  
Lilit Garibyan ◽  
Ashlee M Earl ◽  
...  

Abstract We have applied a genetic system for analyzing mutations in Escherichia coli to Deinococcus radiodurans, an extremeophile with an astonishingly high resistance to UV- and ionizing-radiation-induced mutagenesis. Taking advantage of the conservation of the β-subunit of RNA polymerase among most prokaryotes, we derived again in D. radiodurans the rpoB/Rif r system that we developed in E. coli to monitor base substitutions, defining 33 base change substitutions at 22 different base pairs. We sequenced >250 mutations leading to Rif r in D. radiodurans derived spontaneously in wild-type and uvrD (mismatch-repair-deficient) backgrounds and after treatment with N-methyl-N′-nitro-N-nitrosoguanidine (NTG) and 5-azacytidine (5AZ). The specificities of NTG and 5AZ in D. radiodurans are the same as those found for E. coli and other organisms. There are prominent base substitution hotspots in rpoB in both D. radiodurans and E. coli. In several cases these are at different points in each organism, even though the DNA sequences surrounding the hotspots and their corresponding sites are very similar in both D. radiodurans and E. coli. In one case the hotspots occur at the same site in both organisms.


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