Polyvariant

[Jonelle Rycroft]

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In congenital bilateral absence of the vas deferens patients, the T5 allele at the polymorphic Tn locus in the CFTR (cystic fibrosis transmembrane conductance regulator) gene is a frequent disease mutation with incomplete penetrance. This T5 allele will result in a high proportion of CFTR transcripts that lack exon 9, whose translation products will not contribute to apical chloride channel activity. Besides the polymorphic Tn locus, more than 120 polymorphisms have been described in the CFTR gene. We hypothesized that the combination of particular alleles at several polymorphic loci might result in less functional or even insufficient CFTR protein. Analysis of three polymorphic loci with frequent alleles in the general population showed that, in addition to the known effect of the Tn locus, the quantity and quality of CFTR transcripts and/or proteins was affected by two other polymorphic loci: (TG)m and M470V. On a T7 background, the (TG)11 allele gave a 2.8-fold increase in the proportion of CFTR transcripts that lacked exon 9, and (TG)12 gave a sixfold increase, compared with the (TG)10 allele. T5 CFTR genes derived from patients were found to carry a high number of TG repeats, while T5 CFTR genes derived from healthy CF fathers harbored a low number of TG repeats. Moreover, it was found that M470 CFTR proteins matured more slowly, and that they had a 1.7-fold increased intrinsic chloride channel activity compared with V470 CFTR proteins, suggesting that the M470V locus might also play a role in the partial penetrance of T5 as a disease mutation. Such polyvariant mutant genes could explain why apparently normal CFTR genes cause disease. Moreover, they might be responsible for variation in the phenotypic expression of CFTR mutations, and be of relevance in other genetic diseases.

There is also @deriving(jsConverter), which does exactly what you want, but for some reason all mention of it in relation to polyvariants has been removed from the docs. It works essentially the same as for normal variants.

Somebody will want to try this anyway, so here goes

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Flavonoid biosynthesis is characterized by extremely high flexibility; and it occurs in plants with different adaptive strategies in different habitats. The article proves that the flexibility of flavonoid biosynthesis has a fundamental nature and is the result of two circumstances: the special organization of the pathways of flavonoid metabolism and the relatively low specificity of the main enzymes of biosynthesis.

Researchers are well aware that the accumulation offlavonoids in plants is characterized by high flexibility and hasa poorly predictable nature. One of the reasons for it is that theflavonoid biosynthesis pathways are a complex network; insome areas allowing plants to biosynthesize the same flavonoidin several alternative ways (Harborne 1980; Kimura 1983;Rosenberg 1984; 2013; Tilman 2004; Gaston 2005; Hubbell 2006;Lambers et al. 2008; Mc Gill 2010; Petrussa et al. 2013; Mierziaket al. 2014). Fig. 1 shows the metabolic pathways of the mainflavonoids and the stages of site formation that provide thesemolecules with antioxidant activity.

The possibility of such alternative biosynthesis of the samemolecules in plants is directly determined by the specifics ofthe involved enzymes. The study of the specifics of the mainenzymes of flavonoid biosynthesis is the particular workobjective of this paper.

The objects were samples of individual chromatograms of extracts of above-ground parts of 8 plant species of the Urals and Western Siberia. Samples of the above-ground parts of the plants from which the extracts were obtained were collected in various cenopopulations, differing in habitat conditions (Tab. 1).

To measure the flavonoids, alcohol extracts were chromatographed on a Luna C18 250 mm 4.6 mm, 5 μm column in a reverse-phase system. Flavonoids were measured in the above-ground organs of licorice and juniper by HPLC. The analysis used the Sigma-Aldrich standards: baicalein, hesperetin, fisetin, naringin, naringenin, rutin, quercetin, isoquercetin, morin, dihydroquercetin, and liquiritigenin 92% minimum purity. Flavonoid standards and the substances in samples were detected at 275 nm and 360 nm on a diode-matrix UV analyzer. Standards and substances in specimens were detected at 275 nm.

The direct results of measuring the content of flavonoidsin the samples were presented by the authors in previouslypublished articles (Usmanov et al. 2019, 2020). In our studies,it was proved that the accumulation of flavonoids in the abovedescribedspecies is characterized by high flexibility. However,it was also found that the process of changing priorities in favorof the biosynthesis of particular flavonoids is in principle notstrictly determined by either external or internal conditions.Fractal analysis revealed that the content of flavonoids inplants as a whole is a polyvariant multi-level system, in mostcases having the properties of self-similarity (Ivanov et al. 2019;Usmanov et al. 2015, 2019, 2020).

The main metabolic pathways described in the literatureand the enzymes involved in the biosynthesis of the compoundsunder investigation (the corresponding ciphers are indicatedin parentheses) and intermediate metabolites are presentedbelow (BioCyc Pathway 2021):

As a result, the general scheme of the organization offlavonoid biosynthesis is so flexible that plants have thepossibility of very ease and multi-level regulation of thecomposition of flavonoids. At the same time, there are numerouspossibilities for the biosynthesis of particular compounds andprecursors of entire classes by various alternative pathways(Tab. 1 and Fig. 1). Thus, the principle of multiple adaptivereactions is implemented in relation to flavonoid metabolism(Usmanov et al. 2016, 2017, 2018, 2021; Mavletova-Chistyakovaet al. 2017; Ivanov et al. 2016).

During the long-term studies of the composition offlavonoids of the above-mentioned species, it was found that theaccumulation of these compounds, as well as their total content,are extremely variable (Usmanov et al. 2015, 2019, 2020; Ivanovet al. 2019). At the same time, no stable correlative relationshipsbetween the accumulation of particular compounds and thenumerical values of environmental indicators were observed inall the species under investigation. It was found that the generalpicture of flavonoid accumulation in plants demonstrates theproperties of an object of a multifractal nature (Gelashvili et al.2013; Usmanov et al. 2016; Shcherbakov et al. 2021).

It is known that the anti-oxidative function is the mostimportant and universal function of flavonoids in plants.Since the composition of flavonoids in plants is extremelyflexible, the total potential antioxidant activity of accumulatedflavonoids in particular plants can be achieved through a varietyof options for the accumulation of these compounds (from arelatively small number of highly effective, to significant valuesof relatively low-effective substances) with all potential optionsfor transition states. Thus, plants show the ability to achievethe same goal in a variety of alternative ways.

Such a polyvariance would again be impossible withoutspecial adjustment of the enzyme systems. As follows from Fig.2, among the enzymes involved in the flavonoid biosynthesis,there are relatively universal substances that may performthe same transformations with substances of differentclasses. These are mainly enzymes belonging to class 1.14.(monooxygenases, oxidoreductases). This very enzymaticversatility allows plants to solve the problems of biosynthesis ofparticular flavonoids and their classes in the most diverse wayafter the biosynthesis of the common precursor naringenin(Fig. 2). For example, the number of the pathways of luteolinand myricetin biosynthesis can reach five options (Fig. 2).

Thus, the polyvariant nature of flavonoid biosynthesis inplants in response to the poorly predicted nature of the habitatis the result of the fact that a significant number of enzymeswith relatively low specificity are involved in the metabolism ofthese substances.

3. Additional degrees of freedom are provided by aflexible system of modification of base molecules through thecreation and decomposition of a large number of derivatives ofbase molecules, primarily glycosides.

Usmanov I.Yu., Ivanov V.B., Ivanov N.A. (2018). Samovosstanovlenie ekosistem Srednego Priob'ya pri antropogennyh vozdejstviyah neftedobyvayushchego kompleksa. V sb.: Ekologicheskie problemy bassejnov krupnyh rek-6: Materialy mezhdunarodnoj konferencii. Tol'yatti: Anna. 303-305.

Recently, electrical resistivity (ER) measurements have been done during some thermomechanical tests in copper based shape memory alloys (SMA's). In this work, single crystals of Cu-based SMA's have been studied at different temperatures to analyse the relationship between stress (s) and ER changes as a function of the strain (e). A good consistency between ER change values is observed in different experiments: thermal martensitic transformation, stress induced martensitic transformation and stress induced reorientation of martensite variants. During stress induced martensitic transformation (superelastic behaviour) and stress induced reorientation of martensite variants, a linear relationship is obtained between ER and strain as well as the absence of hys teresis. In conclusion, the present results show a direct evidence of martensite electrical resistivity anisotropy.

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