Amyotrophic lateral sclerosis (ALS) is a multifactorial disease characterized by the interplay of genetic and environmental factors. In the majority of cases, ALS is sporadic, whereas familial forms ...occur in less than 10% of patients. Herein, we present the results of molecular analyses performed in a large cohort of Italian ALS patients, focusing on novel and already described variations in ALS-linked genes. Our analysis revealed that more than 10% of tested patients carried a mutation in one of the major ALS genes, with C9orf72 hexanucleotide expansion being the most common mutation. In addition, our study confirmed a significant association between ALS patients carrying the ATNX-1 intermediate repeat and the pathological C9orf72 expansion, supporting the involvement of this risk factor in neuronal degeneration. Overall, our study broadens the known mutational spectrum in ALS and provides new insights for a more accurate view of the genetic pattern of the disease.
•Genetics of ALS in southern Italy similar to most other populations.•Novel variants of unknown pathogenicity discovered.•Confirmation of a significant C9orf72/ATXN1 association.•Involvement of C9orf72 expansion as risk factor in neuronal degeneration.
Morphological descriptions of phyllosoma larvae are essential for correct species identification and investigating the spatiotemporal distribution and recruitment process of spiny and slipper ...lobsters. Species identification of the phyllosoma larvae in the Scyllarinae subfamily is particularly difficult because of the morphological similarities among species and the scarcity of morphological information describing correct species identity. We extracted mid- to final-stage (V to VIII) phyllosoma larvae (n = 12) belonging to the subfamily Scyllarinae from several plankton samples collected in the Pacific and then performed molecular species identification using mitochondrial DNA COI and 16S rDNA sequence analyses. Three larvae collected around the Ryukyu Archipelago were identified as Chelarctus aureus (stage VI to VIII), and four collected around the Ryukyu Archipelago and Ogasawara Islands were identified as C. virgosus (V to VIII). One larva (V) collected in the central South Pacific was determined to be a subspecies of C. crosnieri. DNA barcodes could not be made for the remaining four larvae (V to VIII) collected around the Ryukyu Archipelago (designated by ?Chelarctus sp-1). Based on the morphological characteristics of the C. virgosus phyllosoma described in this study and the adult distributions reported to date, C. cultrifer phyllosomas previously reported in Japanese and Taiwanese waters are likely to be C. virgosus. This paper also presents a set of diagnostic morphological characteristics that can be used to discriminate among these four species of Chelarctus and from other genera in the subfamily Scyllarinae.
Lumpy skin disease virus (LSDV) causes lumpy skin disease in cattle and buffaloes, which is associated with significant animal production and economic losses. Since the 2000s, LSDV has spread from ...Africa to several countries in the Middle East; Europe; and Asia; including, more recently, several south-east Asian countries. In November 2020, Myanmar reported its first LSD outbreak. This study reports on the first incursion of LSD in Myanmar and the molecular analysis of the LSDV detected. Staff from the Livestock Breeding and Veterinary Department (LBVD) of the Ministry of Agriculture, Livestock, and Irrigation collected samples from cattle with suspected LSD infection. The Food and Agriculture Organization (FAO) of the United Nations' Emergency Centre for Transboundary Animal Diseases (ECTAD) and the Joint International Atomic Energy Agency (IAEA)/FAO program's Animal Health and Production laboratory provided LSDV diagnostic support to two regional veterinary diagnostic laboratories in Myanmar. Samples from 13 cattle tested positive by real-time PCR. Selected samples underwent sequence analysis in IAEA laboratories. The results show that the Myanmar LSDV sequences clustered with LSDV isolates from Bangladesh and India, LSDV Kenya, and LSDV NI-2490. Further characterization showed that the Myanmar LSDV is 100% identical to isolates from Bangladesh and India, implying a common source of introduction. These findings inform diagnosis and development of control strategies.
때죽나무는 때죽나무과에 속하는 낙엽 소교목으로 우리나라와 중국, 일본, 대만이 원산이나 캐나다, 미국, 영국 등에도 도입되어 분포하고 있다. 1990년 이후 전국에 분포하는 때죽나무에서 녹병균이 지속적으로 발견되었다. 한국의 때죽나무 녹병균의 형태적 특성은 일본의 쪽동백나무에서 보고된Pucciniastrum styracinum의 형태적 특성과 가장 ...유사하였으며 internal transcribed spacer (ITS) 및 28S large subunit (LSU) rDNA의 염기서열의 분자계통학적 분석을 통해 동정을 확인하였다. 본 연구에서는 한국의 때죽나무에서 발견한 녹병균P. styracinum의 존재를 재확인하였고, 균학적 특성과 형태적 측정치 및 분자적 특성에 대한 정보를 제공하였다.
Styrax japonicus is a deciduous shrub or a small tree belonging to the family Styracaceae. Since 1990, a rust fungus has continuously been found on S. japonicus leaves across the country. The morphological characteristics of the rust fungus were most consistent with those of Pucciniastrum styracinum reported on Styrax obassia in Japan. The species identification was confirmed by molecular phylogenetic analysis of the internal transcribed spacer and large subunit rDNA sequences. The current study provides mycological information with morphological measurements and molecular phylogenetic data of P. styracinum found on S. japonicus in Korea. Therefore, this is the first confirmed report on the presence of P. styracinum on S. japonicus in Korea.
Aim. To analyze and summarize literature data on the state of classification and taxonomy of Iris genus plants of Iridaceae family.Results and discussion. The genus Iris L. is one of the largest ...species of Iridaceae Juss family, which includes 1,800 species of 80 genera. Despite the fact that plants are very common as ornamental plants, there is currently no single classification for both horticultural and wild species of Iris genus. Various classifications and systems of irises have been proposed, the main difference between them is related to the understanding of the genus scope. The taxonomy of Iris genus underwent dramatic changes in the last century, especially in recent decades after the introduction of molecular methods. This paper deals with the analysis of current literature data on the existing classifications of Iris genus plants, the correspondence between taxonomic studies and the results of recent molecular studies. The data presented summarize the traditional classifications according to Rodionenko and Matthew, and also describe modern achievements in phylogenetic studies of this genus using functional genomic studies, involving molecular markers in irises. Conclusions. The data analyzed and summarized in the article can be useful for solving issues of taxonomy, phylogeny, genetics and practical problems of selection of plants of Iris genus; in addition, they will contribute to a more appropriate use of the Iris raw material in practical pharmacy.
Traditional breeding programmes have been limited to the selection and introduction of genotypes with promising agronomic characteristics, but studies focused on genetic diversity in the low hills of ...the North West(NW) Himalayas have not been conducted, which is very important for the identification of potential parents for breeding programmes in guava. In the present study, six best performing guava cultivars/hybrids were characterised using morphological descriptors and SCoT markers. Broad phenotypic variability among the guava cultivars/hybrids was detected using morphological descriptors. A set of 36 SCoT markers were used for polymorphism, out of which 31(86.1%) markers showed polymorphism, indicating high genetic variability in the guava cultivars/hybrids. During the analysis, 291 polymorphic amplicons were obtained, ranging from four to 19, with an average of 9.4 amplicons per primer and average polymorphic information content of 0.47.The UPGMA classified hybrids and cultivars into two groups. Based on morphological and molecular performance, L-49(Sardar) was ranked as the most promising cultivar for the low hills of NW Himalayan conditions. Morphological descriptors along with SCoT markers proved efficient in detecting the levels of genetic variability among the collections maintained in the field. These results can be used as an additional source of exploitation in guava breeding programmes.
A new spionid polychaete,
Rhynchospio aciliata
sp. nov.
, was discovered in the fine sandy sediments of an intertidal habitat from Korean waters. The new species is considered a simultaneous ...hermaphrodite, but no brooding embryos were found in any of the specimens collected in this study. This species is unique in the absence of ciliation in the anteriormost chaetigers.
Rhynchospio aciliata
sp. nov.
is morphologically most similar to
Rhynchospio foliosa
Imajima, 1991 from Japan in having an elevation on the prostomium, conspicuously large and foliaceous branchiae, and intersegmental lateral pouches. However, the new species differs from the latter by the following characteristics: (1) large and lanceolate notopodial postchaetal lamellae of chaetiger 1, (2) transverse ciliated bands and ciliation on the inner branchiae absent in anteriormost chaetigers, and (3) pygidium with one pair of ventral cirri and numerous elongated dorsolateral cirri. Detailed description and illustrations of the new species are provided with molecular information on mitochondrial cytochrome c oxidase subunit I (COI), 16S ribosomal DNA (rDNA), nuclear 18S rDNA, and 28S rDNA.
Styrax japonicus is a deciduous shrub or a small tree belonging to the family Styracaceae. Since 1990, a rust fungus has continuously been found on S. japonicus leaves across the country. The ...morphological characteristics of the rust fungus were most consistent with those of Pucciniastrum styracinum reported on Styrax obassia in Japan. The species identification was confirmed by molecular phylogenetic analysis of the internal transcribed spacer and large subunit rDNA sequences. The current study provides mycological information with morphological measurements and molecular phylogenetic data of P. styracinum found on S. japonicus in Korea. Therefore, this is the first confirmed report on the presence of P. styracinum on S. japonicus in Korea.
Helvella is a widespread, frequently encountered fungal group appearing in forests, but the species diversity and molecular phylogeny of Helvella in China remains incompletely understood. In this ...work, we performed comprehensive phylogenetic analyses using multilocus
sequence data. Six datasets were employed, including a five-locus concatenated dataset (ITS, nrLSU, tef1-α, rpb2, hsp), a two-locus concatenated dataset (ITS, nrLSU), and four single-locus datasets (ITS) that were divided based on the four different phylogenetic
clades of Helvella recognized in this study. A total of 1 946 sequences were used, of which 713 were newly generated, including 170 sequences of ITS, 174 sequences of nrLSU, 131 sequences of tef1-α, 107 sequences of rpb2 and 131 sequences of hsp. The phylogeny
based on the five-locus concatenated dataset revealed that Helvella s. str. is monophyletic and four phylogenetic clades are clearly recognized, i. e., Acetabulum clade, Crispa clade, Elastica clade, and Lacunosa clade. A total of 24 lineages or subclades
were recognized, 11 of which were new, the remaining 13 corresponding with previous studies. Chinese Helvella species are distributed in 22 lineages across four clades. Phylogenetic analyses based on the two-locus concatenated dataset and four single-locus datasets confirmed the presence
of at least 93 phylogenetic species in China. Among them, 58 are identified as known species, including a species with a newly designated lectotype and epitype, 18 are newly described in this paper, and the remaining 17 taxa are putatively new to science but remain unnamed due to the paucity
or absence of ascomatal materials. In addition, the Helvella species previously recorded in China are discussed. A list of 76 confirmed species, including newly proposed species, is provided. The occurrence of H. crispa and H. elastica are not confirmed although both are
commonly recorded in China.
Anchovy is one of the economically important fish in the western part of the northern coast of Central Java. The production of anchovies extends along the coast from Brebes Regency to Batang Regency. ...Therefore, this study aims to determine the diversity of anchovies on the northern coast of Central Java (Brebes, Tegal, Pemalang, Batang, and Kendal), using a molecular approach. This study was conducted from April to September 2019 in the Laboratory of Tropical Marine Biotechnology, Faculty of Fisheries and Marine Science, Universitas Diponegoro. The descriptive exploratory method was applied in this study with a random sampling technique, while the cytochrome oxidase I (COI) gene was used for molecular identification. An anchovy sample molecularly identified from each region was found by sampling, including BB 3, PML 2, BTG 1, BTG 2, BTG 4, TGL 2, TGL 4, KDL 1, and KDL 4. The base-pair length of 10 anchovy samples from the COI gene amplification result was 600-700 bp. The sequencing and alignment results of the BLAST analysis showed that the ten anchovy samples were included in the type of
,
,
and
sp., which ranged from 98 to 99% similarity in location. Therefore, it is concluded that there were at least four different species of anchovy on the northern coast of Java. However, further research is suggested to determine the genetic variation of each species for better fisheries management.