• Animal Systematics, Evolution and Diversity
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• v.18 no.1
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• pp.165-179
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• 2002

In spite of dramatic change of environmental condition since Cambrian big-bang (explosion occurred ca.540 mya, the phylum Arthropoda retains a great diversity, and it is estimated approximately that 1-10 million arthropod species are extant on the earth. Except for an extinct arthopod subphylum Trilobita, extant arthropods could be divided into five subphyla: Hexapoda, Crustacea, Myriapoda, Chelicerata, and Pycnosonida. During the last century, systematists have disputed about interrealtionships among Arthropoda and its relatives (Onychophora, Tardigrada, and Pentastomida), arthropod phylogenetic position within protostome animals, monophyly or polyphyly of the phylum Arthropods, and interrelationships among five arthropod subgroups (subphyla) etc. Recently, new animal phylogeny was reported that protostomes could be clustered into two groups, Lophotrochozoa and Ecdysozoa, and molting animals such as Nematoda and Arthropoda were included within the Ecdysozoa. On the basis of the new animal phylogeny, first of all, I would mention phylogenetic positions and relationships of Arthropods and its relatives to introduce controversies of arthropod phylogeny in phylum level of animals. After that, I focused mainly on the controveries related to arthropod monophyly and phylogenetic relationships among four major arthropod groups except Pycnogonida. In this work, Pycnogonida which is a relatively small group and one of the five arthropod subphyla was not handled significantly although there are some controversies if it is a sister taxon of chelicerates or the most primitive arthropod group (namely, a sister of four remains arthropod groups).

• Journal of The Korean Society of Inherited Metabolic disease
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• v.19 no.1
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• pp.20-25
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• 2019

Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (OMIM#201475) is an autosomal recessively inherited metabolic disorder of mitochondrial long-chain fatty acid oxidation. The clinical features of VLCAD deficiency is classified by three clinical forms according to the severity. Here, we report a case of later-onset episodic myopathic form of VLCAD deficiency whose diagnosis was confirmed by plasma acylcarnitine analysis and" multigene panel multigene panel sequencing. A 34-year old female patient visited genetics clinic for genetic evaluation for history of recurrent myopathy with intermittent rhabdomyolysis. She suffered first episode of rhabdomyolysis with acute renal failure requiring hemodialysis at twelve years old. After then, she suffered several times of recurrent rhabdomyolysis provoked by prolonged exercise or fasting. Physical and neurologic exam was normal. Serum AST/ALT and creatinine kinase (CK) levels were mildly elevated. However, according to her previous medical records, her AST/ALT, CK were highly elevated when she had rhabdomyolysis. In suspicion of fatty acid oxidation disorder, multigene panel sequencing and plasma acylcarnitine analysis were performed in non-fasting, asymptomatic condition for the differential diagnosis. Plasma acylcarnitine analysis revealed elevated levels of C14:1 ($1.453{\mu}mol/L$; reference, 0.044-0.285), and C14:2 ($0.323{\mu}mol/L$; 0.032-0.301) and upper normal level of C14 ($0.841{\mu}mol/L$; 0.065 -0.920). Two heterozygous mutation in ACADVL were detected by multigene panel sequencing and confirmed by Sanger sequencing: c.[1202G>A(;) 1349G>A] (p.[(Ser 401Asn)(;)(Arg450His)]). Diagnosis of VLCAD deficiency was confirmed and frequent meal with low-fat diet was educated for preventing acute metabolic derangement. Fatty acid oxidation disorders have diagnostic challenges due to their intermittent clinical and laboratorial presentations, especially in milder late-onset forms. We suggest that multigene panel sequencing could be a useful diagnostic tool for the genetically and clinically heterogeneous fatty acid oxidation disorders.

• Genomics & Informatics
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• v.21 no.3
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• pp.39.1-39.15
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• 2023

DNA barcoding without assessing reliability and validity causes taxonomic errors of species identification, which is responsible for disruptions of their conservation and aquaculture industry. Although DNA barcoding facilitates molecular identification and phylogenetic analysis of species, its availability in clariid catfish lineage remains uncertain. In this study, DNA barcoding was developed and validated for clariid catfish. 2,970 barcode sequences from mitochondrial cytochrome c oxidase I (COI) and cytochrome b (Cytb) genes and D-loop sequences were analyzed for 37 clariid catfish species. The highest intraspecific nearest neighbor distances were 85.47%, 98.03%, and 89.10% for COI, Cytb, and D-loop sequences, respectively. This suggests that the Cytb gene is the most appropriate for identifying clariid catfish and can serve as a standard region for DNA barcoding. A positive barcoding gap between interspecific and intraspecific sequence divergence was observed in the Cytb dataset but not in the COI and D-loop datasets. Intraspecific variation was typically less than 4.4%, whereas interspecific variation was generally more than 66.9%. However, a species complex was detected in walking catfish and significant intraspecific sequence divergence was observed in North African catfish. These findings suggest the need to focus on developing a DNA barcoding system for classifying clariid catfish properly and to validate its efficacy for a wider range of clariid catfish. With an enriched database of multiple sequences from a target species and its genus, species identification can be more accurate and biodiversity assessment of the species can be facilitated.