Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing.

Sagong, Borum,Jung, Da Jung,Baek, Jeong-In,Kim, Min-A,Lee, Jaetae,Lee, Sang-Heun,Kim, Un-Kyung,Lee, Kyu-Yup Institute for Clinical Science] 2014 Annals of clinical and laboratory science Vol.44 No.4

<P>Craniosynostosis is a heterogeneous disorder that results in a common malformation which causes premature fusion of one or more cranial sutures. Whole-exome sequencing (WES) was recently developed as a powerful genetic strategy for identifying pathogenic mutations of heterogeneous disorders with various causative genes. A 24-year-old woman visited our department for evaluation of persistent hearing impairment and absence of an external auditory canal from birth. In this study, we performed WES to identify the causative mutation in a Korean family who has Crouzon Syndrome (CS). We first focused on 16 genes associated with craniosynostosis and sorted the heterozygous variations according to the autosomal dominant inheritance pattern of her family. After the bioinformatic analysis for filtering and detecting variations, three non-synonymous variations in different genes were selected for additional analysis. Among these, the p.C278F mutation in the FGFR2 gene was only absent from both dbSNP and the 1000 Genomes database. We considered the p.C278F mutation in the FGFR2 gene as the causative mutation for the CS. This result suggests that the application of WES will be valuable for diagnosis of congenital disorders with clinical and genetics heterogeneities.</P>

Crystal Structure and Biochemical Characterization of Tetrahydrodipicolinate <i>N</i>-Succinyltransferase from <i>Corynebacterium glutamicum</i>

Sagong, Hye-Young,Kim, Kyung-Jin American Chemical Society 2015 Journal of agricultural and food chemistry Vol.63 No.49

<P>Tetrahydrodipicolinate <I>N</I>-succinyltransferase (DapD) is an enzyme involved in the biosynthesis of <SMALL>l</SMALL>-lysine by converting tetrahydrodipicolinate into <I>N</I>-succinyl-<SMALL>l</SMALL>-2-amino-6-oxopimelate, using succinyl-CoA as a cofactor. We determined the crystal structure of DapD from <I>Corynebacterium glutamicum</I> (<I>Cg</I>DapD). <I>Cg</I>DapD functions as a trimer, and each monomer consists of three domains: an N-terminal helical domain (NTD), a left-handed β-helix (LβH) domain, and a β C-terminal domain (CTD). The mode of cofactor binding to <I>Cg</I>DapD, elucidated by determining the structure in complex with succinyl-CoA, reveals that the position of the CTD changes slightly as the cofactor binds to the enzyme. The superposition of this structure with that of <I>Mycobacterium tuberculosis</I> shows differences in residues that make up cofactor-binding sites. Moreover, we determined the structure of <I>Cg</I>DapD in complex with the substrate analogue 2-aminopimelate and revealed that the analogue was stabilized by conserved residues. The catalytic and substrate binding sites of <I>Cg</I>DapD were confirmed by site-directed mutagenesis experiments.</P><P><B>Graphic Abstract</B> <IMG SRC='http://pubs.acs.org/appl/literatum/publisher/achs/journals/content/jafcau/2015/jafcau.2015.63.issue-49/acs.jafc.5b04785/production/images/medium/jf-2015-04785n_0006.gif'></P>

Rb-Sr isotopic study of the Hwacheon granite in northern Gyeonggi massif, Korea: A case of spurious Rb-Sr whole rock age

S.-T. Kwon,C.- S. Cheong,H. Sagong 한국지질과학협의회 2006 Geosciences Journal Vol.10 No.2

Sagong, H., Kwon, S.-T., and Ree, J.-H., 2005, Mesozoic episodicmagmatism in South Korea and its tectonic implication. Tecton-ics, 24, TC5002, doi:10.1029.

Does the sailfish skin reduce the skin friction like the shark skin? (10 pages)

Sagong, W.,Kim, C.,Choi, S.,Jeon, W.-P.,Choi, H. AMERICAN INSTITUTE OF PHYSICS 2008 Physics of Fluids Vol.20 No.10

Two Novel Missense Mutations in the TECTA Gene in Korean Families with Autosomal Dominant Nonsyndromic Hearing Loss.

Sagong, Borum,Park, Raekil,Kim, Yee Hyuk,Lee, Kyu-Yup,Baek, Jeong-In,Cho, Hyun-Joo,Cho, In-Jee,Kim, Un-Kyung,Lee, Sang-Heun Institute for Clinical Science] 2010 Annals of clinical and laboratory science Vol.40 No.4

<P>The TECTA gene, which encodes alpha-tectorin, is known as a causative gene for DFNA8/DFNA12, and DFNB21 hearing loss in humans. In the present study, mutation analysis of the TECTA gene was performed in 62 Korean patients with hereditary hearing loss. Two novel nucleotide substitutions, p.V317E and p.T1866M, were identified for the first time in the Korean population. These mutations result in the substitution of amino acids in the zonadhesin (ZA) and the zona pellucida (ZP) domains, and show a genotype-phenotype correlation, which is a characteristic of TECTA-related mutations in autosomal dominant nonsyndromic hearing loss. Both mutations are located in highly conserved regions of alpha-tectorin and were not found in 120 unrelated control subjects with normal hearing. Based on this evidence, it is likely that both mutations are the pathogenic ones causing the hearing loss. This study provides useful information for the functional study of hereditary hearing loss caused by tectorial membrane defects.</P>

Inactivation of Escherichia coli O157:H7, Salmonella Typhimurium, and Listeria monocytogenes in Orange and Tomato Juice Using Ohmic Heating

SAGONG, HUN-GU,PARK, SANG-HYUN,CHOI, YOUNG-JIN,RYU, SANGRYEOL,KANG, DONG-HYUN International Association for Food Protection 2011 Journal of food protection Vol.74 No.6

<P>The effects of ohmic heating on reduction of Escherichia coli O157:H7, Salmonella Typhimurium, and Listeria monocytogenes in orange and tomato juice were investigated. Orange and tomato juice inoculated with E. coli O157:H7, Salmonella Typhimurium, and L. monocytogenes were subjected to ohmic heating with selected parameters including electric field strength from 10 to 20 V/cm and treatment times from 0 to 540 s. The number of pathogens was reduced by increasing the electric field strength from 10 to 20 V/cm as well as increasing treatment time. The population of E. coli O157:H7 was reduced more than 5 log after 120, 210, and 540 s of treatment in orange juice with 20, 15, and 10 V/cm electric field strengths, respectively. In tomato juice, levels of E. coli O157:H7 were reduced more than 5 log after 90, 180, and 480 s with the same electric field strengths. Similar phenomena were observed for Salmonella Typhimurium and L. monocytogenes, but E. coli O157:H7 was the most resistant to ohmic heating treatment. These results show that ohmic heating is potentially useful for inactivation of E. coli O157:H7, Salmonella Typhimurium, and L. monocytogenes and that the effect of inactivation depends on applied electric field strength, treatment time, pathogen species, and type of juice.</P>

Self-division and Self-sacrifice in Thomas Hardy’s The Woodlanders

Sagong, Chaul(사공철) 건국대학교 스토리앤이미지텔링연구소 2018 스토리&이미지텔링 Vol.15 No.-

이 논문의 목적은 토마스 하디의 『숲속의 사람들』에 나타난 여성 주인공 그레이스와 남성 주인공 가일스의 자아를 탐구하는 데 있다. 이 작품의 주요 무대인 리틀 힌톡은 단순한 목가적 공동체가 아니라 공동체 내에서의 두 주인공들의 자아형성 배경으로 작용한다. 위기에 놓인 당시의 농촌 공동체의 흥망성쇠와 더불어 젠더와 계급의 불안정한 성격이 두드러지게 나타난다. 하디는『숲속의 사람들』을 다른 어떤 소설보다도 최고의 작품으로 묘사했지만, 이야기의 전반적인 전개는 침울한 분위기로 흐른다. 공동체 내의 인간관계에서 서로 다른 정체성을 지닌 두 주인공들은 갈등과 대립으로 인하여 양립할 수없는 관계에 놓이게 되면서 그들의 불행한 결말을 독자들에게 남긴다. 따라서 이 논문은 두 주인공들의 불행을 불안정한 자아정체성에서 비롯된다고 보고 그레이스의 “자아분열”과 가일스의 “자기희생”에 초점을 맞추면서 고찰하게 된다. 그레이스와 가일스의 불행한 삶과 그들 자신의 불안정안 자아를 통해서 인간은 자아분열과 자기희생 어느 한쪽의 치우침이 없는 보편적인 자아성찰과 더불어 서로 소통하며 주변의 자연환경과 동화되어 자연스럽게 살아야 한다는 평범한 삶의 진리를 깨닫게 된다. 바로 이러한 점이 필자가 이 논문에서 논의하려는 주된 요지이다. The purpose of this paper is to explore the self of the male and female protagonists, Grace and Giles in Thomas Hardy’s The Woodlanders. In The Woodlanders, Little Hintock is not a simple pastoral community, but a background for self-formation of protagonists within the community. This work shows the ups and downs of the rural community during times of social crisis, where the unstable nature of gender and class appears more prominent. Moreover, Hardy elaborates his emphasis on Grace’s and Giles’s self, which are the key points throughout the novel. Though Hardy described The Woodlandres “as a story, more than any of his other novels” (Millgate 279) and as “the best of all”(Florence 151), the overall development of the story takes on a more sombre tone and leaves readers with an unhappy ending. The emphasis will be placed on the incompatible aspects of characters’ identity that arise from conflicts and confrontations by the different identities between community and individuality of human relations. Therefore this paper will prove identities of their self, focusing on “Self-division” of Grace and “Self-sacrifice” of Giles. Through the unhappy life of Grace and Giles and the instability of their self, we are able to learn about the deep meaning of self-reflection. Furthermore, we realize the realities of life and how it relates through communication with each other in harmony and the natural environment surrounding us. The above is the major issue that I attempt to discuss in the paper.

Multiplex minisequencing screening for PTC genotype associated with bitter taste perception

Sagong, Borum,Bae, Jae Woong,Rhyu, Mee Ra,Kim, Un-Kyung,Ye, Mi-Kyung Springer-Verlag 2014 MOLECULAR BIOLOGY REPORTS Vol.41 No.3

Development of a Novel Korean H9-Specific rRT-PCR Assay and Its Application for Avian Influenza Virus Surveillance in Korea

Sagong Mingeun,Kang Yong-Myung,Kim Na Yeong,Noh Eun Bi,Heo Gyeong-Beom,An Se-Hee,Lee Youn-Jeong,Choi Young Ki,Lee Kwang-Nyeong 한국미생물학회 2023 The journal of microbiology Vol.61 No.10

Since the 2000s, the Y439 lineage of H9N2 avian influenza virus (AIV) has been the predominant strain circulating in poultry in Korea; however, in 2020, the Y280 lineage emerged and spread rapidly nationwide, causing large economic losses. To prevent further spread and circulation of such viruses, rapid detection and diagnosis through active surveillance programs are crucial. Here, we developed a novel H9 rRT-PCR assay that can detect a broad range of H9Nx viruses in situations in which multiple lineages of H9 AIVs are co-circulating. We then evaluated its efficacy using a large number of clinical samples. The assay, named the Uni Kor-H9 assay, showed high sensitivity for Y280 lineage viruses, as well as for the Y439 lineage originating in Korean poultry and wild birds. In addition, the assay showed no cross-reactivity with other subtypes of AIV or other avian pathogens. Furthermore, the Uni Kor-H9 assay was more sensitive, and had higher detection rates, than reference H9 rRT-PCR methods when tested against a panel of domestically isolated H9 AIVs. In conclusion, the novel Uni Kor-H9 assay enables more rapid and efficient diagnosis than the “traditional” method of virus isolation followed by subtyping RT-PCR. Application of the new H9 rRT-PCR assay to AI active surveillance programs will help to control and manage Korean H9 AIVs more efficiently.

Structural Insights into Substrate Specificity of Cystathionine γ-Synthase from <i>Corynebacterium glutamicum</i>

Sagong, Hye-Young,Kim, Kyung-Jin American Chemical Society, Books and Journals Divi 2017 Journal of agricultural and food chemistry Vol.65 No.29

<P>Cystathionine γ-synthase (MetB) condenses <I>O</I>-acetyl-<SMALL>l</SMALL>-homoserine (OAHS) or <I>O</I>-succinyl-<SMALL>l</SMALL>-homoserine (OSHS) with cysteine to produce cystathionine. To investigate the molecular mechanisms and substrate specificity of MetB from <I>Corynebacterium glutamicum</I> (<I>Cg</I>MetB), we determined its crystal structure at 1.5 Å resolution. The pyridoxal phosphate cofactor is covalently bound to Lys204 via a Schiff base linkage in the deep cavity. Superposition with the structure of MetB from <I>Nicotiana tabacum</I> in complex with its inhibitor <SMALL>dl</SMALL>-(<I>E</I>)-2-amino-5-phosphono-3-pentenoic acid revealed that Thr347 from the β10−β11 connecting loop, located at the entrance of the active site, is speculated to be a main contributor for stabilization of the acetyl group of OAHS. Moreover, on the basis of structural comparison of <I>Cg</I>MetB with <I>Ec</I>MetB utilizing OSHS as a main substrate, we propose that the conformation of the β10−β11 connecting loops determines the size and shape of the acetyl- or succinyl-group binding site and ultimately determines the substrate specificity of MetBs toward OAHS or OSHS.</P><P><B>Graphic Abstract</B> <IMG SRC='http://pubs.acs.org/appl/literatum/publisher/achs/journals/content/jafcau/2017/jafcau.2017.65.issue-29/acs.jafc.7b02391/production/images/medium/jf-2017-023916_0005.gif'></P>