Search results for "mutation."
showing 10 items of 2808 documents
GENETIC VARIABILITY AND DRIFT LOAD IN POPULATIONS OF AN AQUATIC SNAIL
2004
Population genetic theory predicts that in small populations, random genetic drift will fix and accumulate slightly deleterious mutations, resulting in reduced reproductive output. This genetic load due to random drift (i.e., drift load) can increase the extinction risk of small populations. We studied the relationship between genetic variability (indicator of past population size) and reproductive output in eight isolated, natural populations of the hermaphroditic snail Lymnaea stagnalis. In a common laboratory environment, snails from populations with the lowest genetic variability mature slower and have lower fecundity than snails from genetically more variable populations. This result s…
Predicting the Significance of Necessity
2019
With Necessary Condition Analysis (NCA), a necessity effect is estimated by calculating the amount of empty space in the upper-left corner in a plot with a predictor X and an outcome Y, and recently a method for testing the statistical significance of the necessity effect through permutation has been proposed. In the present simulation study, this method was found to give significant results already with a very weak true population necessity effect, i.e., exhibit high power, unless the sample size is very small. However, in some situations the significance of the necessity effect tends to increase with increased degree of sufficiency, which is paradoxical for a method whose objective is to …
Preliminary insights into the molecular barcoding data of Turraea socotrana (Meliaceae) from Socotra (Yemen)
2020
The relationship of two geographically and ecologically separated populations of Turraea socotrana Styles and F. White (Meliaceae), a vulnerable and scattered shrub from the island of Socotra (Yemen), was explored using preliminary molecular data. The nuclear ribosomal ITS region was used to screen the level of genetic divergence of T. socotrana from ecologically distant localities in comparison to a few other species of Turraea and closely related genera. The individuals from the inland (Diksam) differed from the western coastal ones (Ma’alah) by vegetative characters and by the rbcL gene. This may be due to the fact that the population from Ma’alah grows on lithosoil slopes directly expos…
Correct oligomerization is a prerequisite for insertion of the central molecular domain of staphylococcal α-toxin into the lipid bilayer
1995
Staphylococcal alpha-toxin is a primarily hydrophilic molecule that binds as a monomer to target membranes and then aggregates to form amphiphilic oligomers that represent water-filled transmembrane channels. Current evidence indicates that a region located in the center of the molecule inserts deeply into the bilayer. In the present study, we sought to determine whether membrane insertion was triggered by the oligomerization process, and whether insertion correlated with pore formation. Double mutants of alpha-toxin were prepared in which His-35 was replaced by Arg, and cysteine residues were introduced at positions 69, 130 and 186. Substitution of His-35 with Arg rendered the toxin molecu…
Mutagenesis scanning uncovers evolutionary constraints on tobacco etch Potyvirus membrane-associated 6K2 protein
2019
RNA virus high mutation rate is a double-edged sword. At the one side, most mutations jeopardize proteins functions; at the other side, mutations are needed to fuel adaptation. The relevant question then is the ratio between beneficial and deleterious mutations. To evaluate this ratio, we created a mutant library of the 6K2 gene of tobacco etch potyvirus that contains every possible single-nucleotide substitution. 6K2 protein anchors the virus replication complex to the network of endoplasmic reticulum membranes. The library was inoculated into the natural host Nicotiana tabacum, allowing competition among all these mutants and selection of those that are potentially viable. We identified 1…
Recent results on syntactic groups of prefix codes
2012
International audience; We give a simplified presentation of groups in transformation monoids. We use this presentation to describe two recent results on syntactic groups of prefix codes. The first one uses Sturmian words to build finite bifix codes with a given permutation group as syntactic group. The second one describes a class of prefix codes such that all their syntactic groups are cyclic.
Commensurability in Artin groups of spherical type
2019
Let $A$ and $A'$ be two Artin groups of spherical type, and let $A_1,\dots,A_p$ (resp. $A'_1,\dots,A'_q$) be the irreducible components of $A$ (resp. $A'$). We show that $A$ and $A'$ are commensurable if and only if $p=q$ and, up to permutation of the indices, $A_i$ and $A'_i$ are commensurable for every $i$. We prove that, if two Artin groups of spherical type are commensurable, then they have the same rank. For a fixed $n$, we give a complete classification of the irreducible Artin groups of rank $n$ that are commensurable with the group of type $A_n$. Note that it will remain 6 pairs of groups to compare to get the complete classification of Artin groups of spherical type up to commensur…
Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature.
2015
Objective: Familial hypobetalipoproteinemia (FHBL) is autosomal codominant disorder of lipoprotein metabolism characterized by low plasma levels of total cholesterol (TC), low-density lipoproteincholesterol (LDL-C) and apolipoprotein B (apoB) below the 5 th percentile of the distribution in the population. Patients with the clinical diagnosis of homozygous FHBL (Ho-FHBL) are extremely rare and few patients have been characterized at the molecular level. Here we report the medical history and the molecular characterization of one paediatric patient with clinical features of Ho-FHBL. Methods: A one month old infant with failure to thrive, severe hypocholesterolemia and acanthocytosis was clin…
Novel CREB3L3 Nonsense Mutation in a Family With Dominant Hypertriglyceridemia.
2015
Objective— Cyclic AMP responsive element–binding protein 3–like 3 ( CREB3L3 ) is a novel candidate gene for dominant hypertriglyceridemia. To date, only 4 kindred with dominant hypertriglyceridemia have been found to be carriers of 2 nonsense mutations in CREB3L3 gene (245fs and W46X). We investigated a family in which hypertriglyceridemia displayed an autosomal dominant pattern of inheritance. Approach and Results— The proband was a 49-year-old woman with high plasma triglycerides (≤1300 mg/dL; 14.68 mmol/L). Her father had a history of moderate hypertriglyceridemia, and her 51-year-old brother had triglycerides levels as high as 1600 mg/dL (18.06 mmol/L). To identify the causal mutation …
Germline correction of an epimutation related to Silver-Russell syndrome.
2015
Like genetic mutations, DNA methylation anomalies or epimutations can disrupt gene expression and lead to human diseases. However, unlike genetic mutations, epimutations can in theory be reverted through developmental epigenetic reprograming, which should limit their transmission across generations. Following the request for a parental project of a patient diagnosed with Silver-Russell syndrome (SRS), and the availability of both somatic and spermatozoa DNA from the proband and his father, we had the exceptional opportunity to evaluate the question of inheritance of an epimutation. We provide here for the first time evidence for efficient reversion of a constitutive epimutation in the sperm…