• Journal of Genetic Medicine
• /
• v.13 no.1
• /
• pp.1-13
• /
• 2016

Although some mutations are beneficial and are the driving force behind evolution, it is important to maintain DNA integrity and stability because it contains genetic information. However, in the oxygen-rich environment we live in, the DNA molecule is under constant threat from endogenous or exogenous insults. DNA damage could trigger the DNA damage response (DDR), which involves DNA repair, the regulation of cell cycle checkpoints, and the induction of programmed cell death or senescence. Dysregulation of these physiological responses to DNA damage causes developmental defects, neurological defects, premature aging, infertility, immune system defects, and tumors in humans. Some human syndromes are characterized by unique neurological phenotypes including microcephaly, mental retardation, ataxia, neurodegeneration, and neuropathy, suggesting a direct link between genomic instability resulting from defective DDR and neuropathology. In this review, rare human genetic disorders related to abnormal DDR and damage repair with neural defects will be discussed.

• Animal Systematics, Evolution and Diversity
• /
• v.33 no.2
• /
• pp.136-139
• /
• 2017

The genus Iksookimia (Actinopterygii: Cypriniformes: Cobitidae) is a bottom-dwelling freshwater loaches, which are well-known as their endemism and high geographic variation. However, population genetic relationships among Iksookimia spp. have remained unclear due to a shortage of genetic markers that can be applied generally in the genus. Here, we developed high-resolving microsatellite markers using I. koreensis and I. longicorpa as representatives of Iksookimia species because of their wide distribution range and phylogenetic position. Ten of polymorphic microsatellite loci were isolated from Iksookimia koreensis and were successfully cross-amplified in I. longicorpa. The mean number of observed alleles per locus was about 10.4 (range, 2-17) for I. koreensis and about 13.2 (range, 2-24) for I. longicorpa. The loci, IK03 and IK08, deviated from the Hardy-Weinberg equilibrium in I. koreensis, after applying the Bonferroni correction. The microsatellite markers obtained in the present study will be useful to evaluate population genetic structure and to establish conservation strategies for I. koreensis and related Iksookimia species.

• Journal of Sericultural and Entomological Science
• /
• v.54 no.1_2
• /
• pp.1-5
• /
• 2016

The dpp gene originated from the silkworms is an important gene that is well conserved in the genome of humans, cattle, rodents, poultry and Drosophila. The dpp gene belonging to the TGF-beta (Transforming Growth Factor-beta) superfamily is known to play an important role in several developmental stages. The $TGF-{\beta}$ gene family is a genetically well-conserved and playing an important role gene family in various species such as determining cell proliferation and differentiation, apoptosis and cell fate. In this review, we have confirmed the following studies data. The recent studies on the silkworm dpp gene have confirmed for the first time the biological functions such as promoting osteogenesis activity. In addition, previous data shows that dpp have developmental functions such as morphogenetic materials at the blastophyllum stage, induction of the mesoblast at the late embryonic stage and involved in the proliferation and morphogenesis of imaginal disc in adult development. We found the splice variant of the dpp gene originated from the wildtype silkworm by using comparative genomics. It has provided important data for basic research based on genetics studies of these processes may promote a better understanding of evolution. Silkworm is a medicinal insect and is approved for its safety. It is used as a natural antibiotic for promoting growth as a medical material, a health functional food, and a feed additive. Therefore, it is necessary to present various data to obtain more value of functional insect.

• Childhood Kidney Diseases
• /
• v.28 no.1
• /
• pp.8-15
• /
• 2024

With the rapid evolution of diagnostic tools, particularly next-generation sequencing, the identification of genetic diseases, predominantly those with pediatric-onset, has significantly advanced. However, this progress presents challenges that span from selecting appropriate tests to the final interpretation of results. This review examines various genetic testing methodologies, each with specific indications and characteristics, emphasizing the importance of selecting the appropriate genetic test in clinical practice, taking into account factors like detection range, cost, turnaround time, and specificity of the clinical diagnosis. Interpretation of variants has become more challenging, often requiring further validation and significant resource allocation. Laboratories primarily classify variants based on the American College of Medical Genetics and Genomics and the Association for Clinical Genomic Science guidelines, however, this process has limitations. This review underscores the critical role of clinicians in matching patient phenotypes with reported genes/variants and considering additional factors such as variable expressivity, disease pleiotropy, and incomplete penetrance. These considerations should be aligned with specific gene-disease characteristics and segregation results based on an extended pedigree. In conclusion, this review aims to enhance understanding of the complexities of clinical genetic testing, advocating for a multidisciplinary approach to ensure accurate diagnosis and effective management of rare genetic diseases.

• Communications for Statistical Applications and Methods
• /
• v.15 no.3
• /
• pp.303-324
• /
• 2008

From mid-1890's, biometricians and Mendelians debated over Darwin's evolutionary theory. Biologist W. Weldon and Mathematician K. Pearson were leaders of the biometric school and biologist W. Bateson led Mendelian school. In this paper topics of the controversy such as causation vs. correlation, frequency distribution are considered. And in relation to the tradition of British statistics, we consider the philosophy of Karl Pearson revealed in this debate. Besides many statistical methods and concepts by Karl Pearson, the newly born mathematical statistics got a new journal Biometrika, a department in university, and a school of researchers from this controversy.

• Parasites, Hosts and Diseases
• /
• v.49 no.4
• /
• pp.357-364
• /
• 2011

Various Leishmania species were engineered with green fluorescent protein (GFP) using episomal vectors that encoded an antibiotic resistance gene, such as aminoglycoside geneticin sulphate (G418). Most reports of GFP-Leishmania have used the flagellated extracellular promastigote, the stage of parasite detected in the midgut of the sandfly vector; fewer studies have been performed with amastigotes, the stage of parasite detected in mammals. In this study, comparisons were made regarding the efficiency for in vitro G418 selection of GFP-Leishmania amazonensis promastigotes and amastigotes and the use of in vivo G418 selection. The GFP-promastigotes retained episomal plasmid for a prolonged period and G418 treatment was necessary and efficient for in vitro selection. In contrast, GFP-amastigotes showed low retention of the episomal plasmid in the absence of G418 selection and low sensitivity to antibiotics in vitro. The use of protocols for G418 selection using infected BALB/c mice also indicated low sensitivity to antibiotics against amastigotes in cutaneous lesions.

• Journal of the Korean Society for Precision Engineering
• /
• v.14 no.12
• /
• pp.24-29
• /
• 1997

Recently, Genetic Algorithm(GA), which is a stochastic direct search strategy that mimics the process of genetic evolution, is widely adapted into a search procedure for structural optimization. Contrast to traditional optimal design techniques which use design sensitivity analysis results, GA is very simple in their algorithms and there is no need of continuity of functions(or functionals) any more in GA. So, they can be easily applicable to wide area of design optimization problems. Also, owing to multi-point search procedure, they have higher porbability of convergence to global optimum compared to traditional techniques which take one-point search method. The methods consist of three genetics opera- tions named selection, crossover and mutation. In this study, a method of finding the omtimum size and topology of drilling machine is proposed by using the GA, For rapid converge to optimum, elitist survival model,roulette wheel selection with limited candidates, and multi-point shuffle cross-over method are adapted. And pseudo object function, which is the combined form of object function and penalty function, is used to include constraints into fitness function. GA shows good results of weight reducing effect and convergency in optimal design of drilling machine.

• Transactions of the Korean Society of Automotive Engineers
• /
• v.6 no.4
• /
• pp.76-85
• /
• 1998

Recently, Genetic Algorithm(GA) is widely adopted into a search procedure for structural optimization, which is a stochastic direct search strategy that mimics the process of genetic evolution. This methods consist of three genetics operations maned selection, crossover and mutation. Contrast to traditional optimal design techniques which use design sensitivity analysis results, GA, being zero-order method, is very simple. So, they can be easily applicable to wide area of design optimization problems. Also, owing to multi-point search procedure, they have higher probability of converge to global optimum compared to traditional techniques which take one-point search method. In this study, a method of finding the optimum values of suspension parameters is proposed by using the GA. And vehicle is modelled as planar vehicle having 5 degree-of-freedom. The generalized coordinates are vertical motion of passenger seat, sprung mass and front and rear unsprung mass and rotate(pitch) motion of sprung mass. For rapid converge and precluding local optimum, share function which distribute chromosomes over design bound is introduced. Elitist survival model, remainder stochastic sampling without replacement method, multi-point crossover method are adopted. In the sight of the improvement of ride comfort, good result can be obtained in 5-D.O.F. vehicle model by using GA.

• Clinical and Experimental Pediatrics
• /
• v.63 no.6
• /
• pp.195-202
• /
• 2020

Developments in next-generation sequencing (NGS) techogies have assisted in clarifying the diagnosis and treatment of developmental delay/intellectual disability (DD/ID) via molecular genetic testing. Advances in DNA sequencing technology have not only allowed the evolution of targeted panels but also, and more currently enabled genome-wide analyses to progress from research era to clinical practice. Broad acceptance of accuracy-guided targeted gene panel, whole-exome sequencing (WES), and whole-genome sequencing (WGS) for DD/ID need prospective analyses of the increasing cost-effectiveness versus conventional genetic testing. Choosing the appropriate sequencing method requires individual planning. Data are required to guide best-practice recommendations for genomic testing, regarding various clinical phenotypes in an etiologic approach. Targeted panel testing may be recommended as a firsttier testing approach for children with DD/ID. Family-based trio testing by WES/WGS can be used as a second test for DD/ID in undiagnosed children who previously tested negative on a targeted panel. The role of NGS in molecular diagnostics, treatment, prediction of prognosis will continue to increase further in the coming years. Given the rapid pace of changes in the past 10 years, all medical providers should be aware of the changes in the transformative genetics field.

• Genomics & Informatics
• /
• v.16 no.4
• /
• pp.28.1-28.6
• /
• 2018

Due to the increasing interest in synonymous codons, several codon bias-related terms were introduced. As one measure of them, the tRNA adaptation index (tAI) was invented about a decade ago. The tAI is a measure of translational efficiency for a gene and is calculated based on the abundance of intracellular tRNA and the binding strength between a codon and a tRNA. The index has been widely used in various fields of molecular evolution, genetics, and pharmacology. Afterwards, an improved version of the index, named specific tRNA adaptation index (stAI), was developed by adapting tRNA copy numbers in species. Although a subsequently developed webserver (stAIcalc) provided tools that calculated stAI values, it was not available to access pre-calculated values. In addition to about 100 species in stAIcalc, we calculated stAI values for whole coding sequences in 148 species. To enable easy access to this index, we constructed a novel web database, named STADIUM (Species-specific tRNA adaptive index compendium). STADIUM provides not only the stAI value of each gene but also statistics based on pathway-based classification. The database is expected to help researchers who have interests in codon optimality and the role of synonymous codons. STADIUM is freely available at http://stadium.pmrc.re.kr.