• Animal Bioscience
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• v.37 no.6
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• pp.982-992
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• 2024

Objective: Jining Grey goat is a local Chinese goat breed that is well known for its high fertility and excellent meat quality but shows low meat production performance. Numerous studies have focused on revealing the genetic mechanism of its high fertility, but its highlighting meat quality and muscle growth mechanism still need to be studied. Methods: In this research, an integrative analysis of the genomics and transcriptomics of Jining Grey goats compared with Boer goats was performed to identify candidate genes and pathways related to the mechanisms of meat quality and muscle development. Results: Our results overlap among five genes (ABHD2, FN1, PGM2L1, PRKAG3, RAVER2) and detected a set of candidate genes associated with fatty acid metabolism (PRKAG3, HADHB, FASN, ACADM), amino acid metabolism (KMT2C, PLOD3, NSD2, SETDB1, STT3B, MAN1A2, BCKDHB, NAT8L, P4HA3) and muscle development (MSTN, PPARGC1A, ANKRD2). Several pathways have also been detected, such as the FoxO signaling pathway and Apelin signaling pathway that play roles in lipid metabolism, lysine degradation, N-glycan biosynthesis, valine, leucine and isoleucine degradation that involving with amino acid metabolism. Conclusion: The comparative genomic and transcriptomic analysis of Jining Grey goat and Boer goat revealed the mechanisms underlying the meat quality and meat productive performance of goats. These results provide valuable information for future breeding of goats.

• Korean Circulation Journal
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• v.53 no.3
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• pp.170-184
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• 2023

Background and Objectives: Several cases involving severe right ventricular (RV) failure in advanced cancer patients have been found to be pulmonary tumor thrombotic microangiopathies (PTTMs). This study aimed to discover the nature of rapid RV failure syndrome with a suspected diagnosis of PTTM for better diagnosis, treatment, and prognosis prediction in clinical practice. Methods: From 2011 to 2021, all patients with clinically suspected PTTM were derived from the one tertiary cancer hospital with more than 2000 in-hospital bed. Results: A total of 28 cases of clinically suspected PTTM with one biopsy confirmed case were included. The most common cancer types were breast (9/28, 32%) and the most common tissue type was adenocarcinoma (22/26, 85%). The time interval from dyspnea New York Heart Association (NYHA) Grade 2, 3, 4 to death, thrombocytopenia to death, desaturation to death, admission to death, RV failure to death, cardiogenic shock to death were 33.5 days, 14.5 days, 7.4 days, 6.4 days, 6.1 days, 6.0 days, 3.8 days and 1.2 days, respectively. The NYHA Grade 4 to death time was 7 days longer in those who received chemotherapy (7.1 days vs. 13.8 days, p value=0.030). However, anticoagulation, vasopressors or intensive care could not change clinical course. Conclusions: Rapid RV failure syndrome with a suspected diagnosis of PTTM showed a rapid progressive course from symptom onset to death. Although chemotherapy was effective, increased life survival was negligible, and treatments other than chemotherapy did not help to improve the patient's prognosis.

• Journal of Microbiology and Biotechnology
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• v.34 no.7
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• pp.1484-1490
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• 2024

The gut microbiota is a key factor significantly impacting host health by influencing metabolism and immune function. Its composition can be altered by genetic factors, as well as environmental factors such as the host's surroundings, diet, and antibiotic usage. This study aims to examine how the characteristics of the gut microbiota in pigs, used as source animals for xenotransplantation, vary depending on their rearing environment. We compared the diversity and composition of gut microbiota in fecal samples from pigs raised in specific pathogen-free (SPF) and conventional (non-SPF) facilities. The 16S RNA metagenome sequencing results revealed that pigs raised in non-SPF facilities exhibited greater gut microbiota diversity compared to those in SPF facilities. Genera such as Streptococcus and Ruminococcus were more abundant in SPF pigs compared to non-SPF pigs, while Blautia, Bacteroides, and Roseburia were only observed in SPF pigs. Conversely, Prevotella was exclusively present in non-SPF pigs. It was predicted that SPF pigs would show higher levels of processes related to carbohydrate and nucleotide metabolism, and environmental information processing. On the other hand, energy and lipid metabolism, as well as processes associated with genetic information, cell communication, and diseases, were predicted to be more active in the gut microbiota of non-SPF pigs. This study provides insights into how the presence or absence of microorganisms, including pathogens, in pig-rearing facilities affects the composition and function of the pigs' gut microbiota. Furthermore, this serves as a reference for tracing whether xenotransplantation source pigs were maintained in a pathogen-controlled environment.

• Journal of Life Science
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• v.25 no.8
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• pp.861-869
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• 2015

One of the domesticated species; the dog has been selectively bred for various aims by human. The dog has many breeds, which are artificially selected for specific behaviors and morphologies. Dogs contribute their life to human as working dogs for guide, rescue, detection or etc. Working dogs requires good personality, such as gentleness, robustness and patience for performing their special duty. Many studies have concentrated on finding genetic marker for selecting the high-quality working dog. In this study, we confirmed quantitative expression patterns of eight genes (ABAT; 4-Aminobutyrate Aminotransferase, PLCB1; Phospholipase C, Beta 1, SLC10A4; Solute Carrier Family 10, Member 4, WNT1; Wingless-Type MMTV Integration Site Family, Member 1, BARX2; BarH-Like Homeobox 2, NEUROD6; Neuronal Differentiation 6, SEPT9; Septin 9 and TBR1; T-Box, Brain, 1) among brains tissues from four dog breeds (Beagle, Sapsaree, Shepherd and Jindo), because these genes were expressed and have functions in brain mostly. Specially, BARX2, SEPT9, SLC10A4, TBR1 and WNT1 genes were highly expressed in Beagle and Jindo, and Sapsaree and German Shepherd were vice versa. The biological significance of total genes was estimated by database for annotation, visualization and integrated discovery (DAVID) to determine a different gene ontology (GO) class. In these analyses, we suppose to these eight genes could provide influential information for brain development, and intelligence of organisms. Taken together, these results could provide clues to discover biomarker related to functional traits in brain, and beneficial for selecting superior working dogs.

• Korean Journal of Poultry Science
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• v.38 no.4
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• pp.293-304
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• 2011

The current work was carried out to investigate the effect of crossbred Korean native chickens (KNC) on performance and meat quality. A total of 720 chicks (1d of age) was used in this work and were divided into groups by crossbreds (A, B, C and D) and sex (male and female). Crossbreds were A) (KNC egg-meat type C strains ${\times}$ KNC meat type S strains) ${\times}$ Ross broiler, B) (KNC egg-meat type C strains ${\times}$ KNC meat type H strains) ${\times}$ KNC meat type S strains, C) (KNC native R strains${\times}$KNC meat type S strains)${\times}$KNC meat type H strains and D(White Semibroiler Chickens). Experimental diets consisted of 3 phases such as starter (0~5 weeks; CP 20.0%, ME 3,050 kcal/kg), earlier (5~8 weeks; CP 18.0%, ME 3,100 kcal/kg) and finisher (8~12 weeks; CP 16.0%, ME 3,150 kcal/kg). They were fed the broiler diets for 12 weeks at the flat house and thirty six chickens were slaughtered at week 5 and 10. There was no significant difference on the fertility of crossbred KNCs, and the hatchability of B crossbred was low compared to other crossbreds. On body weight (BW), D crossbred resulted in a higher BW after 5 weeks (P<0.05). Body weight gain (BWG) and feed intake (FI) of A crossbred were also significant higher compared to the other crossbreds for all periods. On carcass ratio (CR), A crossbred showed higher CR at 5 weeks, there was no significant among crossbreds at 10 weeks. The partial meat ratio(ala, breast, neck, leg) of C crossbred was the lowest among other crossbreds (P<0.05), but the back meat ratio was not difference among treatments at 5 and 10 weeks. pH of meats have no difference among crossbreds at 5 week, and A crossbred was high compared to other crossbreds at 10 week (P<0.05). The moisture content of D crossbred meat and the protein content of B crossbred meat were high compared to other crossbreds at 5 week. Chemical compositions of meats have no difference among crossbreds at 10 week. Lightness and redness have not significance among crossbreds at 5 week, and redness of A crossbred was the highest among all crossbreds (P<0.05). Shear force and cooking loss of A crossbred were high at 5 week, and cooking loss of A crossbred was low compared with other crossbreds at 10 week. These results suggested the basic data that needed to develope the new strains.

• Journal of Life Science
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• v.30 no.3
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• pp.230-238
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• 2020

Carcass traits are the most economically important traits in Hanwoo (Korean cattle). Recently, the development of the field of genomics has made it possible to identify DNA markers for the genetic evaluation of carcass and meat quality traits in beef cattle. The objective of this study was to assess the genetic effects of single nucleotide polymorphism (SNP) markers related to carcass traits by field evaluations in a commercial Hanwoo population. We evaluated 15 SNP markers (TG g.371T>C, APM1 g.1454G>A, FABP4 g.2834C>G, FABP4 g.3533T>A, FABP4 g.3691G>A, SCD g.10153A>G, SCD g.10329T >C, CPE g.601T>C, EDG1 g.166A>G, NPY g.4271T>C, GPD1 g.2766C>T, PDE1B g.17122A>G, PDE1B g.17507A>C, TNNT1 g.6650C>T, and RORC g.20152A>G) related to carcass traits in Hanwoo. Genotyping of these SNP markers was performed using PCR-RFLP analysis in Hanwoo steers (n = 1,536) to evaluate their association with carcass traits. Seven SNPs, APM1 g.1454G>, FABP4 g.3691G>A, SCD g.10153A>G, CPE g.601T>C, PDE1B g.17122A>G, TNNT1 g.6650C>T, and RORC g.20152A>G, were significantly associated with carcass traits such as marbling score (MS), backfat thickness (BF), musculus longissimus dorsi area (LDA), carcass weight (CW), meat grade (MG), meat color (MC), and maturity score (MA). The results suggest that these SNPs may be used as DNA markers for the selection of Hanwoo with higher meat quality.

• Korean Journal of Clinical Laboratory Science
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• v.49 no.2
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• pp.79-87
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• 2017

GenesWell$^{TM}$ BCT is a 12-gene test suggesting the prognostic risk score (BCT Score) for distant metastasis within the first 10 years in early breast cancer patients with hormone receptor-positive, HER2-negative, and pN0~1 tumors. In this study, we validated the analytical performance of GenesWell$^{TM}$ BCT. Gene expression values were measured by a one-step, real-time qPCR, using RNA extracted from FFPE specimens of early breast cancer patients. Limit of Blank, Limit of Detection, and dynamic range for each of the 12 genes were assessed by serially diluted RNA pools. The analytical precision and specificity were evaluated by three different RNA samples representing low risk group, high risk group, and near-cutoff group in accordance with their BCT Scores. GenesWell$^{TM}$ BCT could detect gene expression of each of the 12 genes from less than $1ng/{\mu}L$ of RNA. Repeatability and reproducibility across multiple testing sites resulted in 100% and 98.3% consistencies of risk classification, respectively. Moreover, it was confirmed that the potential interference substances does not affect the risk classification of the test. The findings demonstrate that GenesWell$^{TM}$ BCT have high analytical performance with over 95% consistency for risk classification.

• Horticultural Science & Technology
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• v.34 no.2
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• pp.305-313
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• 2016

Brassica juncea (2n = 4x = 36, AABB genome, 1,068 Mb) is a U's triangle species and an amphidiploid derivative of B. rapa and B. nigra. Fifteen varieties were used to study the ITS (internal transcribed spacer) regions of ribosomal DNA and MITEs (miniature inverted-repeat transposable elements) with a view of developing specific molecular markers. ITSs and MITEs are an excellent resource for developing DNA markers for genomics and evolutionary studies because most of them are stably inherited and present in high copy numbers. The ITS (ITS1 and ITS2) sequence was compared with the consensus sequence of B. rapa and B. nigra. Variation in ITS1 created two separate groups among 15 varieties, with 10 varieties in one group and 5 in the other. Phylogenetic analysis revealed two major clusters for those 10 and 5 varieties. Among the 160 different MITE primers used to evaluate the selected 15 varieties of B. juncea, 70 were related to the Stowaway, 79 to the Tourist, 6 to the hAT, and 5 to the Mutator super-families of MITEs. Of 160 markers examined, 32 were found to be polymorphic when fifteen different varieties of B. juncea were evaluated. The variety 'Blackgat' was different from the other mustard varieties with respect to both phenotype and genotype. The diversity of 47 additional accessions could be verified using eight selected molecular markers derived from MITE family sequences. The polymorphic markers identified in this study can be used for varietal classification, variety protection, and other breeding purposes.

• Journal of Genetic Medicine
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• v.4 no.2
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• pp.186-189
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• 2007

More than 6,000 rare disorders including genetic diseases have been reported. Of them, 1,500 diseases (1,211 for clinical diagnosis and 289 for research only) are technically possible for genetic testing. In Korea, since 2005, only 63 genetic diseases is permitted for prenatal genetic testing by the "Bioethics and Biosafety Law". The article 25 in the law prescribes 63 genetic diseases without clear indication for its selection and inclusion criteria. In EU, USA, and other foreign countries, however, there is no provision in the statute on prenatal genetic testing; it is not restricted by a law. Recently, a woman (Mrs. L, 38y) who is a carrier for Menkes disease made an appeal to a government for an amendment of the "Bioethics and Biosafety Law" prohibiting the prenatal diagnosis of her pregnancy at risk for Menkes disease. Menkes disease (MNK) is an X-linked recessive disorder characterized by neurodegeneration, connective tissue defects and hair abnormalities, and no effective treatment is available yet. The prevalence rate of MNK is one in about 250,000 live births. Menkes syndrome patients fail to absorb copper from the gastrointestinal tract in quantities adequate for meeting nutritional needs. These needs seem particularly acute during the initial 12 month of life, when the velocity of brain growth and motor neurodevelopment. Most of pts. die around 3yrs. of age. Mrs. L had a boy with Menkes disease who died at 2y.o. in 2001. Subsequent pregnancy in 2003, she was able to have prenatal genetic testing for mutation of the Menkes (ATP7A) gene and delivered a healthy baby boy. Now, She is pregnant again and wants to have prenatal diagnosis. however, this time, she was not allowed to have any more because Menkes disease is not included in 63 genetic diseases permitted by the law for prenatal genetic testing, in spite of the fact that she is a Menkes disease carrier and her pregnancy is at risk to have an affected baby. This case shows the practical problem of the legal restriction for prenatal genetic testing in Korea. In this study, we report a arguable case and discuss the controversial issues in the legal restriction for prenatal genetic testing in Korea.

• Journal of Genetic Medicine
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• v.4 no.2
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• pp.133-141
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• 2007

Purpose : Cri-du-Chat syndrome (CdCs) is a rare but clinically recongnizable condition with an estimated incidence of 1:50,000 live births. The clinical characteristics of the syndrome include severe psychomotor and mental retardation, microcephaly, hypertelorism, hypotonia, and slow growth. Also the size of the chromosome 5p deletion ranges were known from the region 5p13 to the terminal region. In this study, we report the spectrum of 5p deletion in Korean 20 pts. with CdCs and genotype-phenotype associations in CdCs. Methods : In order to delineate genotype-phenotype correlation, molecular cytogenetic studies including GTG banding and clinical characterization were performed on Korean 20 pts with CdCs including parents. CGH array and Fluorescence in situ hybridization (FISH) analysis were used to confirm a terminal deletion karyotype and map more precisely the location of the deletion breakpoint. Results : Molecular analysis of the spectrum of 5p deletion revealed 9 pts (45%) with a del (5)(p14), 7 pts. (35%) a del (5)(p13), 3 pts. (15%) a del (5)(p15.1) and 1 pt. (5%) a del (5)(p15.2) in 20 pts with CdCs. 4(20%)pts were identified to have additional chromosome abnormalites of deficiency and duplication involving chromosomes of 6, 8, 18, & 22. Parental study identified 3 familial case (2 paternal and 1 maternal origin) showing parents being a balanced translocation carrier. And the comparison study of the deletion break points among these 20 pts. with their phenotype has showed the varying clinical pheno-types in the CdCs critical region. Conclusion : The characterization of 5p deletion including parental study may help to delineate the genotypephenotype correlation in CdCs. Also these molecular cytogenetic analyses will be able to offer better information for accurate genetic diagnosis in CdCs and further make possible useful genetic counseling in pts. and family.