Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is one of the most common autosomal, dominantly inherited diseases affecting cholesterol metabolism, which, in the absence of treatment, leads to the development of cardiovascular complications. The disease is still underdiagnosed, even though an early diagnosis would be of great importance for the patient to receive proper treatment and to prevent further complications. No studies are available describing the genetic background of Hungarian FH patients. In this work, we present the clinical and molecular data of 44 unrelated individuals with suspected FH. Sequencing of five FH-causing genes (LDLR, APOB, PCSK9, LDLRAP1 and STAP1) has been performed by next-generation sequencing (NGS). In cases where a copy number variation (CNV) has been detected by NGS, confirmation by multiplex ligation-dependent probe amplification (MLPA) has also been performed. We identified 47 causal or potentially causal (including variants of uncertain significance) LDLR and APOB variants in 44 index patients. The most common variant in the APOB gene was the c.10580G>A p.(Arg3527Gln) missense alteration, this being in accordance with literature data. Several missense variants in the LDLR gene were detected in more than one index patient. LDLR variants in the Hungarian population largely overlap with variants detected in neighboring countries.

Genetic diversity and population structure of sweet orange [Citrus sinensis (L.) Osbeck] germplasm of India revealed by SSR and InDel markers

Sweet orange (Citrus sinensis (L.) Osbeck) is an important commercial citrus fruit crop, cultivated in India and across the world. In India most of the cultivated sweet orange species were introduced varieties. In this study, we used two molecular markers, SSR and InDels, to understand the genetic diversity and population structure of seventy-two sweet orange genotypes. Genetic parameters consisted of a total number of alleles, a number of polymorphic alleles (effective alleles); genetic diversity (G.D.), expected heterozygosity (He), and the polymorphic information content (PIC) were calculated based on molecular data. Two dendrograms were constructed based on the InDels and SSR. In both the cases, they formed three major clusters showing various degrees of variations with respect to members of the clusters. Population structure analysis revealed the presence of two distinct subpopulations. Therefore, in order to address various challenges and develop sweet orange varieties with desirable traits, there is a need to broaden the genetic base of sweet orange through the intensive collection in the northeastern region. These results of intraspecific genetic variability of the collections will dictate the path for the sweet orange breeding and conservation programs in India.

Phylogenomics for Chagas Disease Vectors of the Rhodnius Genus (Hemiptera, Triatominae): What We Learn From Mito-Nuclear Conflicts and Recommendations

We provide in this study a very large DNA dataset on Rhodnius species including 36 samples representing 16 valid species of the three Rhodnius groups, pictipes, prolixus and pallescens. Samples were sequenced at low-depth with whole-genome shotgun sequencing (Illumina technology). Using phylogenomics including 15 mitochondrial genes (13.3 kb), partial nuclear rDNA (5.2 kb) and 51 nuclear protein-coding genes (36.3 kb), we resolve sticking points in the Rhodnius phylogeny. At the species level, we confirmed the species-specific status of R. montenegrensis and R. marabaensis and we agree with the synonymy of R. taquarussuensis with R. neglectus. We also invite to revisit the species-specific status of R. milesi that is more likely R. nasutus. We proposed to define a robustus species complex that comprises the four close relative species: R. marabaensis, R. montenegrensis, R. prolixus and R. robustus. As Psammolestes tertius was included in the Rhodnius clade, we strongly recommend reclassifying this species as R. tertius. At the Rhodnius group level, molecular data consistently supports the clustering of the pictipes and pallescens groups, more related to each other than they are to the prolixus group. Moreover, comparing mitochondrial and nuclear tree topologies, our results demonstrated that various introgression events occurred in all the three Rhodnius groups, in laboratory strains but also in wild specimens. We demonstrated that introgressions occurred frequently in the prolixus group, involving the related species of the robustus complex but also the pairwise R. nasutus and R. neglectus. A genome wide analysis highlighted an introgression event in the pictipes group between R. stali and R. brethesi and suggested a complex gene flow between the three species of the pallescens group, R. colombiensis, R. pallescens and R. ecuadoriensis. The molecular data supports also a sylvatic distribution of R. prolixus in Brazil (Pará state) and the monophyly of R. robustus. As we detected extensive introgression events and selective pressure on mitochondrial genes, we strongly recommend performing separate mitochondrial and nuclear phylogenies and to take advantages of mito-nuclear conflicts in order to have a comprehensive evolutionary vision of this genus.

Delimitation of the segmented trapdoor spider genus Luthela gen. nov., with comments on the genus Sinothela from northern China (Araneae, Mesothelae, Liphistiidae)

A new genus of the primitively segmented trapdoor spiders, which is endemic to the north of China, is described, Luthela gen. nov., and the status of Sinothela Haupt, 2003 and Sinothela sinensis (Bishop & Crosby, 1932) is discussed and both are treated as nomina dubia. The new genus Luthela gen. nov. is erected based on morphology and molecular data of the type species Luthela yiyuan sp. nov. A taxonomic revision of the new genus is given. Three Sinothela species are transferred to the new genus, L. luotianensis comb. nov. and L. schensiensis comb. nov. are redescribed using our newly collected specimens, include L. heyangensis comb. nov. as a junior synonym of L. schensiensis comb. nov., and describe six new species based on both male and female morphological characters: L. badong sp. nov., L. dengfeng sp. nov., L. handan sp. nov., L. taian sp. nov., L. yiyuan sp. nov., and L. yuncheng sp. nov.

Expanding the geographical distribution of Blastobotrys malaysiensis (Saccharomycetales) beyond the Asian continent – a cave fungus first reported in the Americas

Saccharomycetales are ascomycetic yeasts and among them the genus Blastobotrys has approximately 30 known species. Blastobotrys malaysiensis is a yeast species, described from cave samples, known until then only from Malaysia. In this study, we characterize a new strain and report the second occurrence record of this species. Here, Blastobotrys malaysiensis SXS675, was collected from soil samples from a cave in the Parque Estadual de Terra Ronca (PETER) in Goiás, Brazil. Phylogenetic analyzes revealed strong support with the sequence of the species type, as well as with other species of the clade. This new record contributes by providing new molecular data for the species and expanding the knowledge of its distribution beyond the Asian continent. First record of a yeast for the American continent and its second mention for the world.

Molecular (ISSR, cp DNA, ITS) and Morphological Study of the Genus Tragopogon L. (Asteraceae)

Tragopogon L. (Cichorioideae, Lactuceae, Scorzonerinae) is an Old World genus with 150 species, Rechinger in Flora Iranica divided this genus in 13 section and 37 species that 26 species of them are exist in Iran. Safavi et al. divided it into 26 species without sections in flora Iran. Despite the anatomical and molecular studies done around the world, the exact classification of this genus is not clear due to the high number of secret species, hybridization, polyploidy and rapid diversification. The morphology studies of 32 species and Molecular studies (ISSR, ITS, cp DNA) of 22 species of the genus Tragopogon was investigated . The purpose of these studies are classification and determination of interspecific relationship in this genus. Sections of Rubriflori, Sosnowskya, Chromopappus, Majores, Angustissimi, Krascheninnikovia in flora of Iranica are confirmed on the basis of morphometry and molecular data. Section of Profundisulcati in flora Iranica is confirmed on the base of morphometry data. The Species of T. jesdianus, T . porphyrocephalus, T. rezaiyensis and T. Stroterocarpus in the flora of Iranica are not classified in any section which we classified in the Rubriflori section, Cp DNA dendrogram are not useful for classification in this genus and Chloroplast sequences are very similar among Tragopogon species, Therefore, the use of cp DNA markers in the classification of this genus is not recommended.

Hidden Diversity—A New Speciose Gall Midge Genus (Diptera: Cecidomyiidae) Associated with Succulent Aizoaceae in South Africa

Aizoaceae (Caryophyllales) constitute one of the major floral components of the unique Greater Cape Floristic Region (GCFR), with more than 1700 species and 70% endemism. Within succulent Aizoaceae, the subfamily Ruschioideae is the most speciose and rapidly diversifying clade, offering potential niches for the diversification of specialized herbivorous insects. Nevertheless, insect diversity on these plants has not been studied to date, and knowledge of gall-inducing insects in the Afrotropics is generally scarce. Our recent observations indicate that succulent Aizoaceae in the GCFR support a rich and largely unstudied community of gall midges (Diptera: Cecidomyiidae). Here, we provide a first report of their diversity with a description of a new genus, Ruschiola Dorchin, and ten new species, based on morphological and molecular analyses of material collected during a three-year targeted survey across major GCFR vegetation types. A high degree of morphological uniformity in Ruschiola suggests recent diversification and necessitated the use of molecular data and laboratory rearing from host plants to verify species boundaries and host ranges.

Rediscovery of the rare Phrynomedusa appendiculata (Lutz, 1925) (Anura: Phyllomedusidae) from the Atlantic Forest of southeastern Brazil

The genus Phrynomedusa Miranda-Ribeiro, 1923 comprises rare and little known phyllomedusid species from southern Atlantic Forest, Brazil. Phrynomedusa appendiculata (Lutz, 1925) is known from three localities since its description and considered a “lost species” because it was last sighted 51 years ago. This pervasive lack of knowledge raised a significant concern about its threat status. Here, we present the rediscovery of P. appendiculata from a breeding population in the Atlantic Plateau forests of the state of São Paulo. This new record allowed the gathering of novel ecological, acoustic and morphological data for this species. Most of the novel data agreed with the variation historically reported for the species, but we found subtle divergences that we interpret as intraspecific variation. Moreover, this record also allowed a reassessment of geographic distribution of the species, and the first inference of its phylogenetic relationships based on molecular data (mitochondrial and nuclear DNA). The resulting phylogeny corroborated the generic placement and evolutionary distinctiveness of P. appendiculata, evidencing the species as sister to the clade P. marginata + P. dryade. Based on novel and historical data, we discuss some putative factors influencing the rarity of P. appendiculata and its congeners, and provide conservation perspectives. We expect that the novel data can support further assessments of threat status for this rare species, as well as initiatives aiming its conservation.

Anoplocaryum: A newly recorded genus of Boraginaceae from China

Anoplocaryum (Boraginaceae), a small genus previously known from Russia and Mongolia, is newly recorded from China. The specimen was discovered in the rock crevices of Zhangjiakou City, Hebei province, China, and was identified as A. helenae Volot. based on both morphological and molecular data. This study updates our knowledge on the geographic distribution of the genus Anoplocaryum. Two taxonomic keys were provided to distinguish Anoplocaryum and Chinese related genera, also to index taxa in Anoplocaryum.