Formants, or resonance frequencies of the upper vocal tract, are an essential part of acoustic communication. Articulatory gestures-such as jaw, tongue, lip, and soft palate movements-shape formant structure in human vocalizations, but little is known about how nonhuman mammals use those gestures to modify formant frequencies. Here, we report a case study with an adult male harbor seal trained to produce an arbitrary vocalization composed of multiple repetitions of the sound wa. We analyzed jaw movements frame-by-frame and matched them to the tracked formant modulation in the corresponding vocalizations. We found that the jaw opening angle was strongly correlated with the first (F1) and, to a lesser degree, with the second formant (F2). F2 variation was better explained by the jaw angle opening when the seal was lying on his back rather than on the belly, which might derive from soft tissue displacement due to gravity. These results show that harbor seals share some common articulatory traits with humans, where the F1 depends more on the jaw position than F2. We propose further in vivo investigations of seals to further test the role of the tongue on formant modulation in mammalian sound production.

Vocal-based monitoring is increasingly being used as a non-invasive method for identifying individuals within avian populations and is promising for the Siberian Crane, Leucogeranus leucogeranus. This is a poorly studied, long-lived, secretive and critically endangered bird species that breeds in the Arctic tundra of western and eastern regions of Siberia. We assessed between- and within-year stability of individual-specific vocal features in duets of Siberian Crane and tested the effect of pair-mate change on their stability. Previous findings showed that duets are specific to different pairs of birds; however, it is still unknown how long pair-specific traits of duets remain and if they change in the course of a year or when birds re-mate. We recorded duets of 15 reproductively active pairs in the Oka Crane Breeding Centre in 2003–2006 and 2013–2017. We found that pair-specific vocal signatures remained stable both within the year and across ~ 10 years. After a change of mate, most of the variables we measured in the call did not change in any of the birds. Our data suggest that the stability of the individually specific vocal features may enable Siberian Cranes to be reliably identified by their duets over the birds’ lifetime. We believe that our work can increase confidence in the use of acoustic recognition techniques for endangered crane monitoring programs. Our results also suggest that Siberian Cranes may use their duets to form long-term social bonds between neighbours.

Vocal development of cranes (Gruidae) has attracted scientific interest due to its special stage, voice breaking. During voice breaking, chicks of different crane species produce calls with two fundamental frequencies that correspond to those in adult low-frequency and juvenile high-frequency vocalizations. However, triggers that affect voice breaking in cranes are mainly unknown. Here we studied the voice breaking in the Siberian Crane ( Leucogeranus leucogeranus ) and test its relation to the body mass and testosterone level. We analyzed 5846 calls, 39 body mass measurements and 60 blood samples from 11 Siberian Crane chicks in 8 ages from 2.5 to 18 months of life together with 90 body mass measurements and 61 blood samples from 24 Siberian Crane adults. The individual duration of voice breaking and dates of its onset, culmination and completion depended neither on the body mass nor on the testosterone level at various ages. But we found correlation between the testosterone level and mean deltas of percentages of the high and low frequency components in Siberian Crane calls between the closest recording sessions. We also observed some coincidence in time between the mean dates of voice breaking onset and the termination of body mass gain (at 7.5 months of age), and between the mean dates of voice breaking completion and the start of a new breeding season. Similar relations have been shown previously for some other crane species. We also showed for the first time that the mean dates of voice breaking culmination correlated with the significant increase of the testosterone level (at 10.5 months of age). So, we suggest that voice breaking in cranes may be triggered by the end of chicks’ body growth, is stimulated by the increase of testosterone level and ends soon after adult cranes stop taking care of their chicks.

Acute intermittent porphyria (AIP) is the most common and severe form of porphyrias. This is a dominant inherited disorder with low penetrance, caused by mutations in gene coding hydroxymethylbilane synthase (HMBS). We present the results of our long-term genetic study of AIP patients and their relatives (N = 153 and 302, respectively). We detected 88 HMBS gene mutations, 24 of which never described before. To identify additional factors conditioning AIP manifestation, we carried out whole exome sequencing on the group of AIP patients (N = 6). Mutation spectra of different patients virtually did not overlap. In 5 out of 6 patients, we found defects in genes regulating nervous system (UNC13A, ALG8, FBXO38, AGRN, DOK7, SCN4A). As usually acute AIP attacks have various neurological symptoms, we proposed a hypothesis of possible contribution of mutations in such genes in AIP manifestation.

Introduction. Acute intermittent porphyria (AIP) is the most common and severe form of acute hepatic porphyria. AIP is caused by a deficiency in the third enzyme of the heme biosynthesis system — hydroxymethylbilanine synthase (HMBS) — and has a dominant inheritance type. However, the probability of the clinical manifestation of this condition in carriers of the mutation in the HMBS gene constitutes only 10–20 %. Thi s suggests that the presence of such a mutation can be a necessary but not a sufficient condition for the development of the disease.Aim. To search for additional genetic factors, which determine the clinical penetrance of AIP using Whole-Exome Sequencing.Materials and methods. Sequencing of the whole exome was performed using a TruSeqExomeLibraryPrepkit (Illumina) kit by an Illumina HiSeq4000 instrument for 6 women with API with known mutations in the HMBS gene. All the patients suffered from a severe form of the disease. As a reference, a version of the hg19 human genome was used.Results. No common mutations were found in the examined patients. However, in each patient, functional variations were found in the genes related to detoxification systems, regulation of the heme biosynthesis cascade and expression of delta-aminolevulinic acid synthase (ALAS1) and in genes of proteins regulating nervous system. These variations require further study involving an extended number of patients with AIP manifestations and their relatives, who are asymptomatic carriers of disorders in the gene HMBS.Conclusions. The results obtained have allowed us to formulate a hypothesis about a possible role of genetic defects in the penetrance of AIP, which determine the development of other neurological pathologies. This is evidenced by the presence of gene pathogenic variations in 5 out of 6 examined patients, defects in which are associated with hereditary myasthenia and muscle atrophy.

Chicks can convey information about their needs with calls. But it is still unknown if there are any universal need indicators in chick vocalizations. Previous studies have shown that in some species vocal activity and/or temporal-frequency variables of calls are related to the chick state, whereas other studies did not confirm it. Here, we tested experimentally whether vocal activity and temporal-frequency variables of calls change with cooling. We studied 10 human-raised Siberian crane (Grus leucogeranus) chicks at 3-15 days of age. We found that the cooled chicks produced calls higher in fundamental frequency and power variables, longer in duration and at a higher calling rate than in the control chicks. However, we did not find significant changes in level of entropy and occurrence of non-linear phenomena in chick calls recorded during the experimental cooling. We suggest that the level of vocal activity is a universal indicator of need for warmth in precocial and semi-precocial birds (e.g. cranes), but not in altricial ones. We also assume that coding of needs via temporal-frequency variables of calls is typical in species whose adults could not confuse their chicks with other chicks. Siberian cranes stay on separate territories during their breeding season, so parents do not need to check individuality of their offspring in the home area. In this case, all call characteristics are available for other purposes and serve to communicate chicks' vital needs.

Background:Acute intermittent porphyria (AIP) is one of the most common and severe form of porphyrias. It is an autosomal dominant inherited disorder caused by mutation in hydroxymethylbilane synthase gene (HMBS) with low penetrance, which does not exceed 10–20%. AIP acute attacks have highly variable predominantly neurological symptoms and the disease is often misdiagnosed. Therefore, a correct diagnosis is possible only using molecular genetic analysis.Aims:Our aims were to describe mutational spectrum of HMBS gene in Russian AIP patients and to determine and discuss the possible genetic reasons, which could determine the nature of AIP penetrance.Methods:We used samples of genomic DNA collected from unrelated AIP probands (N = 157) and their relatives (N = 308). We isolated nuclear DNA from peripheral white blood cells. Mutational analysis was performed using Sanger sequencing of all functionally important regions of HMBS gene. Besides, we performed Whole Exome Sequencing (WES) on a small group of AIP patients (N = 6) using TrueSeq Exome Library Prep kit (Illumina) and Illumina HiSeq4000 system. For bioinformatic analysis we used hg19 version of human genome as a reference and detected variants differing from it separately in each patient's DNA sample by GATK software. We chose for further analysis those variants, which were nonsynonymous substitutions, splicing, non‐frameshift insertions or deletions or were located in 5’UTR, and had no accession number in SNP databases.Results:We found 91 different mutations in HMBS gene in 157 unrelated AIP patients, 49 of them were not previously described. The most common HMBS gene defects in Russian AIP patients are c.53delT (N = 16) and Arg173Trp (N = 13). During patients’ families genetic consulting we also revealed 118 asymptomatic AIP carriers out of 308 relatives tested. Also, as a preliminary study of additional factors that could affect specific AIP penetrance, we performed WES. After WES data filtration, we revealed about 103–136 variations in each exome (118 in average), which could be considered as mutations. Spectra of mutated genes in different patients virtually did not overlap. This fact supports our hypothesis that AIP penetrance has oligo‐ or polygenic nature. In 5 out of 6 patients we found heterozygous mutations in several genes causing different neurodegenerative disorders, which have partly similar symptoms with AIP, e.g. congenital myastenic syndrome (CMS): AGRN (Val1200Ile), DOK7 (Arg47Cys), SCN4A (Leu96Phe), UNC13A (Arg459Gly), ALG8 (Tyr67Asn) and FBXO38 (Arg754His).Summary/Conclusion:We described mutational spectrum of HMBS gene in Russian AIP patients and revealed two major mutations, which need to be looked for in newly counseled patients in the first place. As a result of WES data analysis we propose a hypothesis about the influence of mutations in genes associated with neurodegenerative diseases on AIP penetrance. This hypothesis we are planning to examine on the expanded sample of AIP patients which suffered acute attacks and their asymptomatic carrier relatives.

In the article on the basis of the analysis of activity by individual crime prevention of Internal Affairs Agencies the main problems of implementation of such work by the units of the local police officers on the organization and implementation of administrative supervision of juvenile cases are identified. According to the author, these problems are connected with imperfection of the legislation regulating the institute of administrative supervision, the specifics of the family and household relations, peculiarities of interaction and information exchange between actors in the individual prevention of crimes.

Acute intermittent porphyria (AIP) is caused by the partial deficiency of porphobilinogen deaminase (PBGD), one of the enzymes of the heme biosynthetic pathway. The penetrance of the mutant gene PBGD is not high and averages of 10-15%. Any additional genetic factors, the combination of which with the mutant allele of the PBGD gene leads to the clinical manifestation of AIP is not currently known. The eventual associations of allelic variants of genes of the Phase 1: CYP1A1 (A2455G), CYP2E1 (G1259C) and four genes of the phase 2: NAT2 (C481T, G590A G857A), mEPHX1:Tyr113His - 3rd exon, His139Arg - 4th exon, GSTM1 (Del), GSTT1 (Del) with clinical presentation of AIP were investigated. Homozygous carriership of the "fast" allele of the acetyltransferase gene (genotype N/N) was established to be associated with a latent course of the disease. The combination of "functionally weakened" genotypes of glutathione transferase (class t similar to) and class M (GSTT10/0, GSTM10/0) can be considered as an unfavorable genetic factor related with the clinical presentation of AIR Comparative analysis of the frequencies of genotypes and polymorphic alleles of genes CYP1A1, CYP2E1 and mEPHX1 revealed no statistically significant differences between the samples of patients with AIP and asymptomatic carriers of the disease.

Vocal individuality provides a method of personalization for multiple avian species. However, expression of individual vocal features depends on necessity of recognition. Here we focused on chick vocalizations of demoiselle, Siberian and red-crowned cranes that differ by their body size, developmental rates and some ecological traits. Cranes are territorial during summer, but gather in large flocks during autumn and winter. Nevertheless, parents keep feeding their chicks, even on winter grounds, despite the potential of confusing their own and alien chicks. Here we aimed to compare expression of individuality and sex in calls of three crane species between solitary and gregarious periods of a chick’s life, and between species. We found significant individual patterns of acoustic variables in the calls of all three species both before and after fledging. However, only red-crowned crane chicks increased expression of individuality significantly after the fledging. Also, we found that chicks of all three species significantly increased occurrence of non-linear phenomena, i.e., irregular oscillations of sound-producing membranes (biphonations, sidebands, and deterministic chaos), in their calls after fledging. Non-linear phenomena can be a way of increasing the potential for individual recognition as well as avoiding habituation of parents to their chicks’ calls. The older chicks are, the less their parents feed them, and chicks benefit from keeping the permanent attention of their parents in the course of early ontogeny.