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Everett (2005) and Wolfe (2016a, b) claim, against Chomsky’s, that culture constrains language, and language is not innate, but a man- made artifact. Their claim is strikingly false in contrast with uniformity, rapidity, critical period, and degenerated data as proposed by Chomsky (1965; 1968; 1972) for explaining language acquisition (growth). However, Chomsky’s (1996; 2010; 2012) claim, which proposes that language faculty is a result of mutation(s), “a great leap forward,” also has many fallacies. First, it is against information theories like the one proposed by Gitt (1996; 2007) that information is a mental and not a material quantity. It is also observed by scientists like Yang (2010) and Gitt (1996; 2007) that mutation(s) do not add new, complex, and specified information. Chomsky’s assumption of language faculty by mutation(s) cannot account for this observation. Chomsky’s language faculty by arbitrary mutation(s) also cannot explain the working together of speech anatomy and the built-in brain for the framework of intelligence of language use and for language faculty itself. I propose that the innate language faculty claimed by Chomsky can be accounted for without difficulty by irreducible complexity and specified complexity claimed by Behe (1996) and Dembsky (1999), respectively.

Bio-based alternative leathers may be produced from biomass fiber, protein polymers, bacterial cellulose, and mushroom mycelia. Of these components, mushroom mycelia are of greatest interest. In this study, the potential of Fomes fomentariusas a mushroom mycelial mat was confirmed, and the optimal strain for the development of the mycelial mat was determined. Moreover, the quality of the mycelial mat was improved by identifying an efficient culture method to increase productivity. Mutant strains whose independence was verified were obtained by treatment with gamma irradiation under various conditions. Biofilm formation by the resulting strains was examined in sawdust and liquid media and the characteristics of the biofilms were analyzed. The biofilm of the mutant strains showed results that were similar to or better than the biofilms of longevity and cypress mushrooms. These findings are expected to be utilized in future research aimed at discovering new biomaterials using mushroom mycelia.

‘탐빛1호’는 국립원예특작과학원 감귤연구소에 서 ‘프린스청견’과 ‘병감’을 교배하여 육성한 품종 으로 과실이 붉은빛을 띄며 당도가 높고 과즙이 풍부하여 농후한 식감을 느낄 수 있는 품종이다. '탐빛1호'는 이러한 우수한 특성이 있는 반면 과 실에 종자가 생성되고 양낭피가 질긴 단점이 있 다. 이러한 단점을 보완하기 위하여 주로 과실 특성은 유사하게 유지하면서 불량형질을 도태시 킬 수 있는 방사선 돌연변이 육종 방법을 검토하 였다.‘탐빛1호’의 불량형질 도태를 위하여 ‘탐빛1 호’의 접수를 채취하여 100Gy의 방사선을 조사하 였다.그 후 형질 고정을 위하여 3회의 접목을 실 시하였고 착과된 과실의 특성을 검정하였다. 방 사선 조사 개체들의 과실 특성검정 결과 종자가 생성되지 않고 양낭피의 질김 정도가 '탐빛1호' 에 비해 낮은 수치를 나타내는 계통이 있어 '탐 빛1호 변이계통'을 선발하게 되었다.

'Tambit No. 1' is a cultivar bred by crossing 'Prince' and 'Ponkan' at the Citrus Research Institute of the National Institute of Horticultural and Herbal Science. The fruit is reddish in flesh color, high in sugar content, and rich in juice, which gives it a rich texture. While 'Tambit No. 1' has these excellent characteristics, it has the disadvantages of producing seeds in the fruit and toughness of the segment. In order to compensate for these shortcomings, a radiation mutagenesis breeding method capable of culling defective traits while maintaining similar fruit characteristics was mainly reviewed. For the mutagenesis of ‘Tambit No. 1’, the scion of ‘Tambit No. 1’ was collected and irradiated with 100 Gy of radiation. After that, grafting was performed three times for characterization and the characteristics of the fruit were tested. As a result of the fruit characterization test of the irradiated individuals, the 'Tambit 1 mutant line' was selected because there was a strain that did not produce seeds and the toughness of the segment was lower than that of the 'Tambit No. 1'.

The new technologies of information and communication are carriers of a genuine revolution. This revolution was sudden, and changed every area of social and private life. These Technologies Information and Communication (ICT) have been able to find "niches of use", unthinkable fifteen years ago, in the political, relational, artistic, educational and economic areas, among others. This issue of Epistémè invites researchers from all disciplinary backgrounds to give their theoretical views on these 'ICT' now essential in our lives, but also in our intellectual concerns, and in our ways of producing knowledge, both personally and collectively.

Les nouvelles Technologies d’Information et de Communication sont porteuses d’une authentique révolution. Celle-ci a été soudaine, et elle n’épargne aucun domaine de la vie sociale et privée. Des devenirs sociaux en découlent nécessairement, tant le rapport est dynamique, qui lie les techniques et la société. Ces Technologies d’Information et de Communication ont su trouver des «niches d’usage» inimaginables il y a quinze ans à peine, dans les domaines politiques, relationnels, artistiques, pédagogiques et économiques, entre autres. Ce numéro de la revue Epistémè invite des chercheurs de tous horizons disciplinaires à donner leur point de vue théorique sur ces TIC désormais incontournables dans nos vies, mais aussi dans nos préoccupations intellectuelles, et dans nos manières mêmes de produire la science, personnellement et collectivement, de donner nos enseignements, d’envisager nos objets traditionnels, bouleversés par le principe numérique et les appropriations sociales qu’il a su produire.

Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is caused by mutations in GNE, a key enzyme in sialic acid biosynthesis. Here, we reported a case of GNE that presented with atypical mild clinical feature and slow progression. A 48-year-old female had a complaint of left foot drop since the age of 46 years. Electromyography (EMG) and muscle biopsy from left tibialis anterior muscle were compatible with myopathy. Genetic analysis led to the identification of c.1714G>C/c.527A>T compound heterozygous mutation, which is the second most frequent mutation in Japan as far as we know. Previous research has revealed that c.1714G>C/c.527A>T compound heterozygous mutation is a mild mutation as the onset of the disease is much later than the usual age of onset of GNE myopathy and the clinical course is slowly progressive. This was the first case report in Korea of the clinicopathological characteristics of GNE myopathy with GNE (c.1714G>C/c.527A>T compound heterozygous) mutation.

Warfarin is a frequently prescribed anticoagulant in rehabilitation patients. Adverse drug reactions of warfarin were reported as bleeding and cutaneous microvascular thrombosis. Major bleeding, such as intracranial hemorrhage and psoas hematoma, in patients receiving anticoagulation therapy is a rare condition, but sometimes very serious complication that can even be fatal. Patient-specific factors (eg, age, body size, race, concurrent diseases, and medications) explain some of the individual variability in warfarin dose, but genetic factors, which influence warfarin response, explain a significantly higher proportion of the variability in the dose. There are two identified genes that are responsible for the main proportion of the genetic effect: CYP2C9, which codes for the enzyme cytochrome P450 2C9 that metabolizes S-warfarin, and VKORC1, which codes for warfarin’s target, vitamin K epoxide reductase. We report a case of intolerance to warfarin dosing, due to impaired drug metabolism in a patient with CYP2C9*1/*3 and VKORC 1173TT. Fortunately, there are no severe complications.

Background: Uncoupling proteins 2 (UCP2) plays an important role in energy regulation, previous studies suggested that UCP2 is an excellent candidate gene for human obesity and growth-related traits in cattle and chicks. The current study was designed to detect the genetic variation of UCP2 gene, and to explore the association between polymorphism of UCP2 gene and growth, carcass and meat quality traits in rabbits. Results: A synonymous mutation in exon 1 and four variants in the first intron of the UCP2 gene were identified by using PCR-sequencing. The synonymous mutation c.72G>A was subsequently genotyped by MassArray system (Sequenom iPLEXassay) in 248 samples from three meat rabbit breeds (94 Ira rabbits, 83 Champagne rabbits, and 71 Tianfu black rabbits). Association analysis suggested that the individuals with AA and AG genotypes showed greater 70 d body weight (P < 0.05), 84 d body weight (P < 0.01), ADG from 28 to 84 days of age (P < 0.05), eviscerated weight (P < 0.01), semi-eviscerated weight (P < 0.01) and semi-eviscerated slaughter percentage (P < 0.05), respectively. Additionally, the individuals with AA and AG genotype had a lower pH value of longissimus muscle (P < 0.01) and hind leg muscle (P < 0.05) after slaughter 24 h. Conclusions: These findings indicated that UCP2 could be a candidate gene that associated with growth performance, body composition and meat quality in rabbits, and this would contribute to advancements in meat rabbit breeding practice.

Distal myopathies; Exome sequencing; LDB3; Korean; Mutation

Diagnostic exome sequencing (DES) is a powerful tool to analyze the pathogenic variants leading to development delay (DD) and intellectual disability (ID). Recently, heterozygous de novo mutation of the histone acetyltransferase encoding gene KAT6B has been recognized as causing a syndrome with congenital anomalies and intellectual disability, namely Say-Barber-Biesecker-Young-Simpson (SBBYS) syndrome. Here we report a case of SBBYS syndrome in a third generation Korean family affected with a missense mutation in KAT6B, c.2292C>T p.(His767Tyr) identified by DES. This is the first confirmed familial inherited mutation of the KAT6B reported worldwide. Our case emphasizes again the importance of basic physical examination and taking a family history. Furthermore, advances in genetic diagnostic tools are becoming key to identifying the etiology of DD and ID. This allows a physiatrist to predict the disease’s clinical evolution with relative certainty, and offer an appropriate rehabilitation plan for patients.

Mutations in the adenylosuccinate synthase 1 (ADSSL1) gene, resulting in adenylosuccinate synthase deficiency, are a rare genetic anomaly characterized by muscular weakness, elevated serum creatine kinase levels, and pathological muscle findings. However, these clinical symptoms are similar to those observed in many other myopathies, increasing the risk of misdiagnosis. In an era of rapidly expanding genetic knowledge, the authors sought to verify the diagnostic utility of electromyography for genetic disorders. Through combined electrophysiological and genetic studies, a patient initially thought to have Becker’s muscular dystrophy was conclusively diagnosed with ADSSL1 mutagenic myopathy. This case underscores the importance of re-evaluating diseases that do not follow the typical clinical progression of traditional myopathies, especially in light of recent diagnostic advancements.

Next-generation sequencing, such as whole-genome sequencing, whole-exome sequencing, and targeted panel sequencing have been applied for diagnosis of many genetic diseases, and are in the process of replacing the traditional methods of genetic analysis. Clinical exome sequencing (CES), which provides not only sequence variation data but also clinical interpretation, aids in reaching a final conclusion with regards to genetic diagnosis. Sequencing of genes with clinical relevance rather than whole exome sequencing might be more suitable for the diagnosis of known hereditary disease with genetic heterogeneity. Here, we present the clinical usefulness of CES for the diagnosis of hereditary spastic paraplegia (HSP). We report a case of patient who was strongly suspected of having HSP based on her clinical manifestations. HSP is one of the diseases with high genetic heterogeneity, the 72 different loci and 59 discovered genes identified so far. Therefore, traditional approach for diagnosis of HSP with genetic analysis is very challenging and time-consuming. CES with TruSight One Sequencing Panel, which enriches about 4,800 genes with clinical relevance, revealed compound heterozygous mutations in SPG11. One workflow and one procedure can provide the results of genetic analysis, and CES with enrichment of clinically relevant genes is a cost-effective and time-saving diagnostic tool for diseases with genetic heterogeneity, including HSP.

Familial amyloid polyneuropathy (FAP), a genetic disease showing the autosomal dominant inheritance pattern was first reported by Andrade in 1952. There are three precursor proteins of amyloid inducing FAP: transthyretin (TTR), Apolipoprotein A-1, and Gelsolin. Among these three proteins, abnormal TTR expression by point mutation is most frequently discovered in FAP. Although TTR type FAP has been treated and classified according to clinical findings in the past, it is classified genetically in these days. Since the substitution of methionine for valine at position 30 is most common gene mutation, TTR type FAP is divided into Val30Met type FAP and uncommon non-Val30Met type FAP. Because Asp38Ala mutation type is rarely reported in uncommon non-Val30Met type FAP, we are reporting the clinical characteristics and disease progression of non-Val30Met Type FAP with Asp38Ala Mutation.

South Korea is experiencing intermittent avian flu outbreaks, and the situation is becoming worse because the majority of response efforts are concerned with post-emergence treatment instead of prevention. In this situation, the accuracy of the vaccine should be increased and a method of predicting the mutation of the virus is needed. The aim of this study was therefore to predict the mutation of H5N1 virus HA sequence among domestic poultry. Through analyzing the migratory routes of birds, it was found that the same birds that were infected with H5N1 in Korea were also present in China and Japan and shared breeding grounds. We then used BLAST to obtain molecular evidence that confirms that the AI in China and Japan spreads to Korea with mutations. The HA sequences from previous outbreaks were analyzed for their mutations, and this historical data was used to train a predictive model. Analysis revealed that if the Ka/Ks ratio was over 1, the mutation was preserved. If the Ka/Ks ratio was less than 1, the peaks of the Ka/Ks profiles showed diverse, various mutations. And if the Ka / Ks was significantly low, the mutation did not occur. As a result, based on the Ka/Ks ratios of the AI HA sequences from China and Japan, it was possible to predict which parts of the HA sequence in Korea will be mutated. This will help with vaccine development.