Improved reference genome for the domestic horse increases assembly contiguity and composition

Theodore Kalbfleisch et al. present an improved genome assembly for the domestic horse by combining short- and long-read data, as well as proximity ligation data. They improve contiguity of the assembly by 40-fold, with a 10-fold reduction in gaps

Improved reference genome for the domestic horse increases assembly contiguity and composition

Recent advances in genomic sequencing technology and computational assembly methods have allowed scientists to improve reference genome assemblies in terms of contiguity and composition. EquCab2, a reference genome for the domestic horse, was released in 2007. Although of equal or better quality compared to other first-generation Sanger assemblies, it had many of the shortcomings common to them. In 2014, the equine genomics research community began a project to improve the reference sequence for the horse, building upon the solid foundation of EquCab2 and incorporating new short-read data, long-read data, and proximity ligation data. Here, we present EquCab3. The count of non-N bases in the incorporated chromosomes is improved from 2.33 Gb in EquCab2 to 2.41 Gb in EquCab3. Contiguity has also been improved nearly 40-fold with a contig N50 of 4.5 Mb and scaffold contiguity enhanced to where all but one of the 32 chromosomes is comprised of a single scaffold

Syphilis primary seronegative, associated with HIV-infection among nuclear population groups. Case study

The aim of the study - to demonstrate a clinical case of primary seronegative syphilis associated with HIV infection in a representative of the MSM group, pay attention to the need for timely diagnosis and treatment, as well as taking measures to identify and treat contacts.Цель исследования – продемонстрировать клинический случай первичного серонегативного сифилиса, ассоциированного с ВИЧ-инфекцией у представителя группы МСМ, обратить внимание на необходимость своевременной диагностики и лечения, а также проведение мероприятий по выявлению и лечению контактов

Adrenal function recovery after durable oral corticosteroid sparing with benralizumab in the PONENTE study

Background Oral corticosteroid (OCS) dependence among patients with severe eosinophilic asthma can cause adverse outcomes, including adrenal insufficiency. PONENTE's OCS reduction phase showed that, following benralizumab initiation, 91.5% of patients eliminated corticosteroids or achieved a final dosage ≤5 mg·day-1 (median (range) 0.0 (0.0-40.0) mg). Methods The maintenance phase assessed the durability of corticosteroid reduction and further adrenal function recovery. For ~6 months, patients continued benralizumab 30 mg every 8 weeks without corticosteroids or with the final dosage achieved during the reduction phase. Investigators could prescribe corticosteroids for asthma exacerbations or increase daily dosages for asthma control deteriorations. Outcomes included changes in daily OCS dosage, Asthma Control Questionnaire (ACQ)-6 and St George's Respiratory Questionnaire (SGRQ), as well as adrenal status, asthma exacerbations and adverse events. Results 598 patients entered PONENTE; 563 (94.1%) completed the reduction phase and entered the maintenance phase. From the end of reduction to the end of maintenance, the median (range) OCS dosage was unchanged (0.0 (0.0-40.0) mg), 3.2% (n=18/563) of patients experienced daily dosage increases, the mean ACQ-6 score decreased from 1.26 to 1.18 and 84.5% (n=476/563) of patients were exacerbation free. The mean SGRQ improvement (-19.65 points) from baseline to the end of maintenance indicated substantial quality-of-life improvements. Of patients entering the maintenance phase with adrenal insufficiency, 32.4% (n=104/321) demonstrated an improvement in adrenal function. Adverse events were consistent with previous reports. Conclusions Most patients successfully maintained maximal OCS reduction while achieving improved asthma control with few exacerbations and maintaining or recovering adrenal function

ПРОФИЛАКТИКА РАДИАЦИОННОГО КАНЦЕРОГЕНЕЗА У КРЫС С ПОМОЩЬЮ ПРОИЗВОДНОГО ОКСИПИРИДИНОВ – ГЛУТАПИРОНА

In experiments on rats (290 animals ) exposed to chronic γ-radiation in the total dose of 10.0 Gy it was detected that prescription of synthetic pharmaceutical of the dihydropyridine class-glutapyrone-together with drinking water during 6 months reduced the rate of malignant neoplasms from 26,5% in the control group to 13% in the treated animals. In radiation-exposed rats that received glutapyrone there was a narrowing of spectrum of the emerged neoplasms (connectively-tissual tumors only) as compared to the animals of the radiated control group, where blastomas of epithelium and lymphoid origin were also revealed. Low toxicity of glutapyrone and its anticarcinogenic action show the possibility of practical application of preparation for prevention radiation carcinogenesis.  В опыте на 290 крысах линии Вистар, подвергнутых хроническому гамма-облучению в дозе 10 Гр, показано, что назначение животным с питьевой водой препарата из класса дигидропиридинов глутапирона в течение 6 мес. снижает выход злокачественных новообразований с 26,5% в контроле до 13% в опыте. У облученных крыс, получавших глутапирон, были диагностированы только соединительнотканные опухоли, у контрольных животных – также и опухоли эпителиального и лимфоидного происхождения. Антиканцерогенная активность глутапирона и его низкая токсичность свидетельствуют о возможности практического применения препарата для профилактики радиационного канцерогенеза

Unprecedented within-species chromosome number cline in the Wood White butterfly Leptidea sinapis and its significance for karyotype evolution and speciation

Background: Species generally have a fixed number of chromosomes in the cell nuclei while between-species differences are common and often pronounced. These differences could have evolved through multiple speciation events, each involving the fixation of a single chromosomal rearrangement. Alternatively, marked changes in the karyotype may be the consequence of within-species accumulation of multiple chromosomal fissions/fusions, resulting in highly polymorphic systems with the subsequent extinction of intermediate karyomorphs. Although this mechanism of chromosome number evolution is possible in theory, it has not been well documented. Results: We present the discovery of exceptional intraspecific variability in the karyotype of the widespread Eurasian butterfly Leptidea sinapis. We show that within this species the diploid chromosome number gradually decreases from 2n = 106 in Spain to 2n = 56 in eastern Kazakhstan, resulting in a 6000 km-wide cline that originated recently (8,500 to 31,000 years ago). Remarkably, intrapopulational chromosome number polymorphism exists, the chromosome number range overlaps between some populations separated by hundreds of kilometers, and chromosomal heterozygotes are abundant. We demonstrate that this karyotypic variability is intraspecific because in L. sinapis a broad geographical distribution is coupled with a homogenous morphological and genetic structure. Conclusions: The discovered system represents the first clearly documented case of explosive chromosome number evolution through intraspecific and intrapopulation accumulation of multiple chromosomal changes. Leptidea sinapis may be used as a model system for studying speciation by means of chromosomally-based suppressed recombination mechanisms, as well as clinal speciation, a process that is theoretically possible but difficult to document. The discovered cline seems to represent a narrow time-window of the very first steps of species formation linked to multiple chromosomal changes that have occurred explosively. This case offers a rare opportunity to study this process before drift, dispersal, selection, extinction and speciation erase the traces of microevolutionary events and just leave the final picture of a pronounced interspecific chromosomal difference