• Genomics & Informatics
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• v.7 no.2
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• pp.53-56
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• 2009

Recent evidence has strongly suggested that the CAP/TC10 pathway is involved in the trafficking, docking, and fusion of vesicles containing the insulin-responsive glucose transporter Glut4 to the plasma membrane. However, little is known about how the genes employed in the CAP/TC10 pathway are associated with the development of type 2 diabetes mellitus. In this study, we sequenced 4 genes of the CAP/TC10 pathway [SORBS1, CBL, CRK, and RHOQ] in 24 individuals to identify genetic variations in these loci. A total of 48 sequence variants were identified, including 23 novel variations. To investigate the possible association with type 2 diabetes mellitus, 3 single nucleotide polymorphisms from SORBS1, 3 from CBL, and 4 from RHOQ were genotyped in 1122 Korean type 2 diabetic patients and 1138 nondiabetic controls. Using logistic regression analysis, 1 significant association between SNP rs1376405 in RHOQ and type 2 diabetes mellitus [OR = 8.714 (C.I. 1.714-44.29), p = 0.009] was found in the recessive model. Our data demonstrate a positive association of the RHOQ gene in the CAP/TC10 pathway with T2DM in the Korean population.

• Journal of Genetic Medicine
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• v.17 no.1
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• pp.39-42
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• 2020

The Senior-Loken syndrome was first described in 1961 as an oculo-renal disease consisting of familial juvenile nephronophthisis and Leber congenital amaurosis. It is a rare autosomal recessive disorder with a prevalence of 1:1,000,000 caused by mutations in nine genes (NPHP 1-8 and NPHP 10). Ocular manifestations (e.g., photophobia, nystagmus, and extreme hyperopia) occur within the first few years of life while renal manifestations (e.g., formation of multiple cysts impairing kidney function and end-stage renal disease) appear in late childhood to adolescence. Here, we report a case of a Filipino male presenting with rotatory nystagmus and progressive deterioration of vision since childhood. He had congenital amaurosis and juvenile nephronophthisis that progressed to end stage renal disease by age 19. All laboratory and imaging findings were consistent with chronic kidney disease. Molecular genetic testing of ciliopathy-related genes was performed revealing a homozygous mutation in exon 11 of the IQCB1/NPHP5 gene, c.1090C>T (p.Arg364^⁎). This sequence change created a premature translational stop signal resulting in a truncated protein product, nephrocystin-5 and its consequent loss of function. His symptoms eventually improved with initiation dialysis. The prognosis of Senior-Loken syndrome remains dismal and a high index of suspicion, early diagnosis and timely intervention of renal complications are warranted.

• Clinical and Experimental Pediatrics
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• v.51 no.4
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• pp.435-438
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• 2008

The Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder characterized by multiple abnormalities that involve the brain, face, eyes, and extremities. COFS syndrome is regarded as a degenerative disorder of the brain and spinal cord caused by a mutation of the DNA repair genes. We report on an 8-month-old girl with COFS syndrome who exhibited growth and developmental delay, hypotonia, microcephaly, nystagmus, cleft palate, widely separated nipples, inguinal hernia, camptodactyly, and rocker-bottom feet with vertical talus.

• Journal of Genetic Medicine
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• v.10 no.1
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• pp.1-6
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• 2013

Chronic granulomatous disease (CGD) is a rare inherited disorder of a defective NADPH oxidase enzyme, resulting in very low or no production of superoxide and subsequent reactive oxygen species. Consequently, patients with CGD are highly susceptible to severe bacterial and fungal infections. CGD is a genetically heterogeneous disease caused by defects in any one of the genes encoding the NADPH oxidase components. CGD generally affects about 3-4 per 1,000,000 individuals; thus, it is surprising that the prevalence of CGD on Jeju Island is 34.3 per 1,000,000 individuals. At present, 20 patients with CGD from 14 unrelated families on Jeju Island have been identified; nine males and 11 females. All patients with CGD tested on Jeju Island had an identical and homozygous mutation (c.7C>T in CYBA, p.Q3X in $p22^{phox}$). Therefore, all patients were autosomal recessive form of CGD. This strongly suggests that the unique and identical mutation in CYBA may be inherited from a common proband. Using mutation-specific primers to detect the mutated allele in CYBA, the frequency of subjects carrying a mutated allele was 1.3% of enrolled subjects from Seogwipo City. Further studies are necessary to elucidate how frequently this mutant allele occurs in the population on Jeju Island. Additionally, it is important to construct a national registry system to understand the pathophysiology of CGD and develop a strategy for long-term therapy.

• Asian-Australasian Journal of Animal Sciences
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• v.16 no.9
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• pp.1247-1253
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• 2003

Selection for increased milk production in dairy cows has often resulted in a higher incidence of disease and thus incurred a greater health costs. Considerable interests have been shown in breeding dairy cattle for disease resistance in recent years. This paper discusses the limitations of breeding dairy cattle for genetic resistance in six parts: 1) complexity of disease resistance, 2) difficulty in estimating genetic parameters for planning breeding programs against disease, 3) undesirable relationship between production traits and disease, 4) disease as affected by recessive genes, 5) new mutation of the pathogens, and 6) variable environmental factors. The hidden problems of estimating genetic and phenotypic parameters involving disease incidence were examined in terms of categorical nature, non-independence, heterogeneity of error variance, non-randomness, and automatic relationship between disease and production traits. In light of these limitations, the prospect for increasing genetic resistance by conventional breeding methods would not be so bright as we like. Since the phenomenon of disease is the result of a joint interaction among host genotype, pathogen genotype and environment, it becomes essential to adopt an integrated approach of increasing genetic resistance of the host animals, manipulating the pathogen genotypes, developing effective vaccines and drugs, and improving the environmental conditions. The advances in DNA-based technology show considerable promise in directly manipulating host and pathogen genomes for genetic resistance and producing vaccines and drugs for prevention and medication to promote the wellbeing of the animals.

• Journal of Animal Science and Technology
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• v.55 no.6
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• pp.551-557
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• 2013

This study was conducted to analyze the genotypes and genes of FABP3 (Fatty-acid Binding Protein 3) in pigs using MSPI restriction enzyme and electrophoresis. Analysis of data collected from a total of 210 crossbred pigs (LYD or YLD) in Chungcheongnam-do, Korea, revealed the following. The AA genotypes of FABP3 were detected in the 750 bp and 100 bp bands, while the Aa heterotype appeared in the 850, 750 and 100 bp bands and the aa recessive homotype was detected in a single band of 850 bp. The genotype frequency of AA, Aa and aa was 46.67%, 51.43% and 1.90%, respectively. The genetic equilibrium of this population showed a significant difference (p<0.001) based on a ${\chi}^2$-test. The carcass weight, backfat thickness, marbling score, pH, drip loss, cooking loss, and meat color based on the CIE $L^*$, and $b^*$ values according to genotypes of FABP3 did not differ significantly (p>0.05); however, the CIE $a^*$ values did (p<0.05).

• KOREAN JOURNAL OF CROP SCIENCE
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• v.46 no.5
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• pp.416-419
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• 2001

Hypernodulation soybean mutant, SS2-2, is characterized with greater nodulation and nitrogen fixing ability in the root nodule than its wild type, Shinpaldalkong 2. The present study was performed to identify a genetic locus conferring hypernodulation in soybean mutant SS2-2 and to determine whether the gene controlling the hypernodulation of SS2-2 is allelic to that controlling the supernodulation of nts382 mutant. Hybridization studies between SS2-2 and Taekwangkong revealed that the recessive gene was responsible for the hypernodulation character in soybean mutant SS2-2. Allelism was also tested by crossing supernodulating mutant nts382 and hypernodulating mutant SS2-2 that both hypernodulation and supernodulation genes were likely controlled by an identical locus. Molecular marker mapping of hypernodulation gene in SS2-2 using SSR markers confirmed that the gene conferring hypernodulation was located at the same loci with the gene conferring supernodulation. It is interesting to note that the same gene controlled the super- and hyper-nodulation characters, although SS2-2 and nts 382 exhibited differences in the amount of nodulation in the root system. Further genetic studies should be needed to clarify the genetic regulation of super- and hyper-nodulation in soybean.

• Journal of Microbiology
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• v.39 no.2
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• pp.102-108
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• 2001

DNA damage response has a central role in the maintenance of genomic integrity while mutations in related genes may result in a range of disorders including neoplasic formations. The uvsZl characterized in this report is a navel uvs mutation in Aspergillus nidulans, resulting in a nucleotide excision repair (NER) phenotype: UV-sensitivity before DNA synthesis (quiescent cells), high UV-induced mutation frequency and probable absence of involvement with mitotic and meiotic recombinations. The mutation is recessive and nan-allelic to the previously characterized uvsA101 mutation, also located on the paba-y interval on chromosome I. uvsZl skewed wild-type sensitivity to MMS, which suggests non-involvement of this mutation with BER. Epitasis tests showed that the uvsZ gene product is probably involved in the same repair pathways as UVSB or UVSH proteins. Although mutations in these proteins result in an NER phenotype, UVSB is related with cell cycle control and UVSH is associated with the post-replicational repair pathway. The epistatic interaction among uvsZl and uvsB413 and uvsH77 mutations indicates that different repair systems may be related with the common steps of DNA damage response in Aspergillus nidulans.

• The Korean Journal of Mycology
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• v.22 no.1
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• pp.1-7
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• 1994

Several mutants which never underwent to sexual development(NSD) of Aspergillus nidulans were analyzed genetically and physiologically. They were divided into two groups according to their characterisitics of asexual development after release from aeration block. The mutants in first group proceeded asexual development immediately after removal of aeration block, while those in second group did 10 hours or more later. The NSD mutants were separated into 4 complementation groups, nsdA, nsdB, nsdC and nsdD. The nsdA and nsdD genes were linked to AcrA1 on linkage groupⅡ and pabaA1 on linkage group I, respectively. The mutant alleles were all recessive to wild type allele in heterokayon state. The mutants did not developed cleistothecia on any of carbon sources, except NSD208 which developed cleistothecia on lactose.

• Journal of Genetic Medicine
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• v.14 no.1
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• pp.23-26
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• 2017

Isolated 3-methylcrotonyl-CoA carboxylase deficiency is an autosomal recessive disorder affecting leucine metabolism; it is one of the most common inborn metabolic diseases detected in newborn screening. Mutations in the genes MCCC1 or MCCC2 cause a defect in the enzyme 3-methylcrotonyl-CoA carboxylase, with MCCC2 mutations being the form predominantly reported in Korea. The majority of infants identified by neonatal screening usually appear to be asymptomatic and remain healthy; however, some patients have been reported to exhibit mild to severe metabolic decompensation and neurologic manifestations. Here we report the clinical features of a patient with asymptomatic 3-methylcrotonyl-CoA carboxylase deficiency and novel heterozygous MCCC1 mutations.