• Journal of Genetic Medicine
• /
• 제17권2호
• /
• pp.97-101
• /
• 2020

The combination of central nervous system abnormalities and renal impairment is a notable characteristic of Galloway-Mowat syndrome (GAMOS), a disease which often accompanies microcephaly, developmental delay, and nephrotic syndrome. Many subtypes exist having various phenotypes and genotypes, and many genetic causes are still being identified. An 18-month-old boy first visited our clinic for seizure, delayed development, and microcephaly. During follow-up visits he developed proteinuria and nephrotic syndrome at the age of 6. Nephrotic syndrome became refractory to treatment. These phenotypes were suggestive of GAMOS. Next generation sequencing was performed for genetic analysis and revealed novel compound heterozygous variants in the WDR4 gene: c.494G>A (p.Arg165Gln) and c.540C>G (p.Ile180Met). This is the first case in Korea of GAMOS involving the WDR4 gene.

• Journal of mucopolysaccharidosis and rare diseases
• /
• 제5권1호
• /
• pp.39-41
• /
• 2021

Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder of hyperphagia leading to severe obesity, intellectual deficits, compulsivity, and other behavioral problems. PWS is caused by the inactivation of contiguous genes on chromosome 15q11-q13, which complicates the development of targeted, effective therapeutics. Various preclinical studies have been conducted by developing mouse models that exhibit phenotypes similar to PWS. Oxytocin deficiency in PWS is associated with hyperphagia with impaired satiety and, food-seeking and behavior disorders. Here, we summarize the oxytocin study of ingestion behavior tested in the PWS mouse model and published data from clinical trials that have evaluated treatment effectiveness on ingestion behavior and social dysfunction in patients with PWS.

• IMMUNE NETWORK
• /
• 제20권3호
• /
• pp.22.1-22.21
• /
• 2020

In the progression of atherosclerosis, macrophages are the key immune cells for foam cell formation. During hyperlipidemic condition, phagocytic cells such as monocytes and macrophages uptake oxidized low-density lipoproteins (oxLDLs) accumulated in subintimal space, and lipid droplets are accumulated in their cytosols. In this review, we discussed the characteristics and phenotypic changes of macrophages in atherosclerosis and the effect of cytosolic lipid accumulation on macrophage phenotype. Due to macrophage plasticity, the inflammatory phenotypes triggered by oxLDL can be re-programmed by cytosolic lipid accumulation, showing downregulation of NF-κB activation followed by activation of anti-inflammatory genes, leading to tissue repair and homeostasis. We also discuss about various in vivo and in vitro models for atherosclerosis research and next generation sequencing technologies for foam cell gene expression profiling. Analysis of the phenotypic changes of macrophages during the progression of atherosclerosis with adequate approach may lead to exact understandings of the cellular mechanisms and hint therapeutic targets for the treatment of atherosclerosis.

• Journal of Nutrition and Health
• /
• 제33권6호
• /
• pp.639-646
• /
• 2000

• 한국광과학회:학술대회논문집
• /
• 한국광과학회 2006년도 정기총회 및 제13회 학술대회 논문 초록
• /
• pp.78-78
• /
• 2006

• Molecules and Cells
• /
• 제38권6호
• /
• pp.506-517
• /
• 2015

Arabidopsis Shaggy-like protein kinases (ASKs) are Arabidopsis thaliana homologs of glycogen synthase kinase 3/SHAGGY-like kinases (GSK3/SGG), which are comprised of 10 genes with diverse functions. To dissect the function of $ASK{\beta}$ (AtSK32), $ASK{\beta}$ antisense transgenic plants were generated, revealing the effects of $ASK{\beta}$ down-regulation in Arabidopsis. Suppression of $ASK{\beta}$ expression specifically interfered with pollen development and fertility without altering the plants' vegetative phenotypes, which differed from the phenotypes reported for Arabidopsis plants defective in other ASK members. The strength of these phenotypes showed an inverse correlation with the expression levels of $ASK{\beta}$ and its co-expressed genes. In the aborted pollen of $ASK{\beta}$ antisense plants, loss of nuclei and shrunken cytoplasm began to appear at the bicellular stage of microgametogenesis. The in silico analysis of promoter and the expression characteristics implicate $ASK{\beta}$ is associated with the expression of genes known to be involved in sperm cell differentiation. We speculate that $ASK{\beta}$ indirectly affects the transcription of its co-expressed genes through the phosphorylation of its target proteins during late pollen development.

• Genomics & Informatics
• /
• 제14권4호
• /
• pp.181-186
• /
• 2016

Glucose tolerance tests have been devised to determine the speed of blood glucose clearance. Diabetes is often tested with the standard oral glucose tolerance test (OGTT), along with fasting glucose level. However, no single test may be sufficient for the diagnosis, and the World Health Organization (WHO)/International Diabetes Federation (IDF) has suggested composite criteria. Accordingly, a single multi-class trait was constructed with three of the fasting phenotypes and 1- and 2-hour OGTT phenotypes from the Korean Association Resource (KARE) project, and the genetic association was investigated. All of the 18 possible combinations made out of the 3 sets of classification for the individual phenotypes were taken into our analysis. These were possible due to a method that was recently developed by us for estimating genomic associations using a generalized index of dissimilarity. Eight single-nucleotide polymorphisms (SNPs) that were found to have the strongest main effect are reported with the corresponding genes. Four of them conform to previous reports, located in the CDKAL1 gene, while the other 4 SNPs are new findings. Two-order interacting SNP pairs of are also presented. One pair (rs2328549 and rs6486740) has a prominent association, where the two single-nucleotide polymorphism locations are CDKAL1 and GLT1D1. The latter has not been found to have a strong main effect. New findings may result from the proper construction and analysis of a composite trait.

• The Plant Pathology Journal
• /
• 제15권1호
• /
• pp.21-27
• /
• 1999

Nonpathogenic mutants of Xanthomonas campestris pv. glycines were generated with Omegon-Kim to isolate genes essential for pathogenicity and inducing hypersensitive response (HR). Three nonpathogenic multants and two mutants showing slow symptom development were isolated among 1,000 colonies tested. From two nonpathogenic mutants, 8-13 and 26-13, genes homologous to hrcC and hrpF of X. campestris pv. vesicatoria were identified. The nonpathogenic mutant 8-13 had a mutation in a gene homologous to hrpF of X. campestris pv. vesicatoria and failed to cause HR on pepper plants but still induced HR on tomato leaves. The nonpathogenic mutant 26-13 had an insertional mutation in a gene homologous to hrcC of X. campestris pv. vesicatoria and lost the ability to induce HR on pepper leaves but still caused HR on tomato plants. Unlike other phytopathogenic bacteria, the parent strain and these two mutants of X. campestris pv. glycines did not cause HR on tobacco plants. a cosmid clone, pBL1, that complemented the phenotypes of 8-13 was isolated. From the analysis of restriction enzyme mapping and deletion analyses of pBL1, a 9.0-kb Eco RI fragment restored the phenotypes of 8-13. pBL1 failed to complement the phenotypes of 26-13, indicating that the hrcC gene resides outside of the insert DNA of pBL1. One nonpathogenic mutant, 13-33, had a mutation in a gene homologous to a miaA gene encoding tRNA delta (2)-isopentenylpyrophosphate transferase of Escherichia coli. This indicated that tRNA modifications in X. campestris pv. glycines may be required for expression of genes necessary for pathogenicity. The mutant 13-33 multiplied as well as the parent strain did in the culture medium and in planta, indicating that loss of pathogenicity is not due to the inability of multiplication in vivo.

• Journal of Plant Biotechnology
• /
• 제43권4호
• /
• pp.411-416
• /
• 2016

NGS 기술은 전체 게놈 시퀀싱 및 reference 게놈에 alignment에 의해 돌연변이 표현형에 관련된 돌연변이 식별에 이용한다. 그러나 품종 및 계통들을 resequence 하였을 경우 기존의 reference 게놈에 구조적 변이가 보이며, reference와 맞지 않는 게놈지역에서 돌연변이들은 단순한 alignment로 찾을 수 없다. 본 리뷰에서는 NGS 기술을 이용하여 돌연변이체로부터 변이 관련 유전자를 식별하는 MutMap, MutMap-Gap 및 MutMap+ 방법을 기술하였고 지금까지의 연구현황에 대해 기술하였다. 아울러 이들 방법은 nucleotide-binding site-leucine rich repeat (NBS-LRR) 그룹들의 병 저항성 유전자와 같이 구조적 변이를 가진 유전자를 분리하는 등 유용성에 대해 고찰하였다.

• Reproductive and Developmental Biology
• /
• 제37권1호
• /
• pp.1-8
• /
• 2013

In order to investigate genetic stability and gene expression profile after cloning procedure, two groups of cloned pigs were used for swine leukocyte antigen (SLA) gene nucleotide alteration and microarray analyses. Each group was consist of cloned pigs derived from same cell line (n=3 and 4, respectively). Six SLA loci were analyzed for cDNA sequences and protein translations. In total, 16 SLA alleles were identified and there were no evidence of SLA nucleotide alteration. All SLA sequences and protein translations were identical among the each pig in the same group. On the other hand, microarray assay was performed for profiling gene expression of the cloned pigs. In total, 43,603 genes were analyzed and 2,150~4,300 reliably hybridized spots on the each chip were selected for further analysis. Even though the cloned pigs in the same group had identical genetic background, 18.6~47.3% of analyzed genes were differentially expressed in between each cloned pigs. Furthermore, on gene clustering analysis, some cloned pigs showed abnormal physiological phenotypes such as inflammation, cancer or cardiomyopathy. We assumed that individual environmental adaption, sociality and rank in the pen might have induced these different phenotypes. In conclusion, the results of the present study indicate that SLA locus genes appear to be stable following SCNT. However, gene expressions and phenotypes between cloned pigs derived from the same cell line were not identical even under the same rearing conditions.