• Molecules and Cells
• /
• v.25 no.2
• /
• pp.211-215
• /
• 2008

To gain a better understanding of the methylation imprinting changes associated with heat stress in early development, we used bisulfite sequencing and bisulfite restriction analysis to examine the DNA methylation status of imprinted genes in early embryos (blastocysts). The paternal imprinted genes, H19 and Igf-2r, had lower methylation levels in heat-stressed embryos than in control embryos, whereas the maternal imprinted genes, Peg3 and Peg1, had similar methylation pattern in heat-stressed embryos and in control embryos. Our results indicate that heat stress may induce aberrant methylation imprinting, which results in developmental failure of mouse embryos, and that the effects of heat shock on methylation imprinting may be gene-specific.

• Journal of Life Science
• /
• v.7 no.1
• /
• pp.59-65
• /
• 1997

In this experiment, gene actions were analysized for seven barley parents in order to obtain basic information on their genetic improvement by diallel crosses. The results obtained were summarized as follows. In analysis of variance, additive, dominant, maternal and reciprocal effects were observed significantly for culm length, tiller number, number of spiked per plant, culm diameter, awn length, leaf width, number of grains per spike, and 1000 grain weight. Over-dominance was shown by Vr-Wr graphic analysis in five characters such as tiller number, number of spikes per plant, length of flag leaf, number of grains per spike, and 1000 grain weight, and partial dominance in four characters such as culm length, culm diameter, awn length, and leaf width. Component of genetic varience analyzed for four characters such as culm diameter, awn length, length of flag leaf, and leaf width showed that additive effects were higher than dominant effects. Culm length, tiller number, number of spikes per plant, number of grains per spike, and 1000 grain weight showed dominant effects higher than additive effects. The narrow-sense heritability for awn length, leaf width, and number of grains per spike showed high values as more than 0.62, while broad-sense heritability for culm length, number of spikes per plant, culm diameter, awn length, leaf width, number of grains per spike, and 1000 grain weight showed high values as more than 0.65.

• Korean Journal of Veterinary Service
• /
• v.35 no.2
• /
• pp.91-97
• /
• 2012

The strategy for infectious bursal disease (IBD) control and its success rate under field conditions depends on hygiene management, IBD field pressure, level, and variation in maternally derived IBD antibodies. This study investigated the level of IBD-specific antibody by ELISA and the prevalence of IBD virus by PCR in broilers, white-semi broilers, and Korean native chickens raised in Jeongeup, Jeonbuk. IBD-specific maternally derived antibodies were measured from 698 chickens and the mean titers of maternal antibodies were $3,572{\pm}1,402$ in broilers, $1,262{\pm}762$ in white-semi broilers, and $1,932{\pm}912$ in Korean native chickens. At 2 weeks after vaccination, the geometric mean antibody titers of broiler, white-semi broiler, and Korean native chicken were $582{\pm}427$, $3255{\pm}1,080$, and $1,023{\pm}499$, respectively. According to sequence analysis of the variable virion protein 2 gene, 4 isolates were found to be very virulent IBDV, 9 isolates classical virulent, and 2 isolates intermediate plus vaccine strain.

• Journal of Genetic Medicine
• /
• v.16 no.1
• /
• pp.19-22
• /
• 2019

The infantile convulsions and choreoathetosis (ICCA) syndrome is defined when two overlapping clinical features of benign familial infantile epilepsy (BFIE) and paroxysmal kinesigenic dyskinesia (PKD) are present in an individual or a family. Since the gene encoding proline-rich transmembrane protein 2 (PRRT2) was first identified in Han Chinese families with PKD, mutations of PRRT2 have additionally been reported in patients with BFIE and ICCA. We attempted to identify the genetic etiology in an ICCA family where the proband, her elder sister, and a maternal male cousin had BFIE, and her mother had PKD. Whole-exome sequencing performed in the proband and her sister and mother identified a novel pathogenic mutation of PRRT2 (c.640delinsCC; p.Ala214ProfsTer11), which was verified by Sanger sequencing. This frameshift PRRT2 mutation located near the genetic hot spot of base 649_650 results in the premature termination of the protein, as do most previously reported mutations in BFIE, ICCA, and PKD.

• Journal of Species Research
• /
• v.8 no.3
• /
• pp.313-317
• /
• 2019

Bats influence overall ecosystem health by regulating species diversity and being a major source of zoonotic viruses. Hence, there is a need to elucidate their migration, population structure, and phylogenetic relationship. The complete mitochondrial genome is widely used for studying the genome-level characteristics and phylogenetic relationship of various animals due to its high mutation rate, simple structure, and maternal inheritance. In this study, we determined the complete mitogenome sequence of the bird-like noctule (Nyctalus aviator) by Illumina next-generation sequencing. The sequences obtained were used to reconstruct a phylogenic tree of Vespertilionidae to elucidate the phylogenetic relationship among its members. The mitogenome of N. aviator is 16,863-bp long with a typical vertebrate gene arrangement, consisting of 13 protein-coding genes (PCGs), 22 transfer RNA genes, 2 ribosomal RNA genes, and 1 putative control region. Overall, the nucleotide composition is as follows: 32.3% A, 24.2% C, 14.3% G, and 29.2% T, with a slight AT bias (61.5%). The base composition of the 13 PCGs is as follows: 30.3% A, 13.4% G, 31.0% T, and 25.2% C. The phylogenetic analysis, based on 13 concatenated PCG sequences, infers that N. aviator is closely related to N. noctula with a high bootstrap value (100%).

• Journal of mucopolysaccharidosis and rare diseases
• /
• v.5 no.1
• /
• pp.29-33
• /
• 2021

Prader-Willi Syndrome (PWS) is a neurodevelopmental genomic imprinting disorder involving a lack of gene expression from the paternal chromosome 15q11-q13 region. This is typically due to paternal 15q11-q13 deletions (in approximately 60% of cases), maternal uniparental disomy 15, or when both 15s are from the mother (about 35% of cases). An imprinting center controls the expression of imprinted genes in the chromosome 15q11-q13 region. PWS is a neurodevelopmental disorder characterized by mental retardation and distinct physical, behavioral, and psychiatric features. Characteristic behavioral disturbances in PWS include excessive interest in food, skin picking, difficulty with a change in routine, temper tantrums, obsessive and compulsive behaviors, and mood fluctuations. Individuals with PWS typically have intellectual disabilities (borderline to mild/moderate mental retardation) and exhibit a higher overall level of behavior disturbances compared to individuals with similar intellectual disabilities. This condition severely limits social adaptations and quality of life. Different factors have been linked to the intensity and form of these behavioral disturbances, but there is no consensus regarding the cause. Consequently, there is still controversy surrounding management strategies and there is a need for new data. PWS is a multisystem disorder. Family members, caregivers, physicians, dieticians, and speech-language pathologists all play an important role in the management and treatment of symptoms in an individual with PWS. Here we analyze behavioral problems in children and adults with PWS by age and review appropriate management and treatment strategies for these symptoms.

• Journal of Animal Science and Technology
• /
• v.46 no.6
• /
• pp.917-924
• /
• 2004

Using PCR-RFLP haplotyping for the mitochondrial DNA(mtDNA) fragment containing the NADH dehydrogenase 2 gene(ND2) and three tRNA genes(tRNA-Met, tRNA-Trp and tRNA-Ala), we characterized the genetic diversity of five pig breeds including Jeju native pigs. mtDNA polymorphisms showing distinct cleavage patterns were found in the pig breeds. Two digestion patterns were detected when HaeIII- and Hinfl-RFLP, and four in the Tsp5091-RFLP analyses. Combining the three restriction enzyme digestion patterns found in five different pig breeds, four mtDNA haplotypes were observed and the haplotype frequencies were significantly different by the pig breeds. A monomorphic haplotype, mtWB, was observed in both Korean wild boars and Large White pigs. Both Duroc and Landrace pigs contained two haplotypes suggesting their multiple maternal lineages. Jeju native pig has two haplotypes(mtJN and mtJD). Of these, mtJN is identified as a Jeju native pig specific haplotype. This study suggested that more than two progenitor populations have been taken part in the domestication process of the Jeju native pig population, and/or probably subsequent crossing with other pig breeds from near east Asia. Unlike with our prediction, there was no direct evidence under molecular levels on the maternal introgression of Korean wild boar in the domestication of Jeju native pigs. In conclusion, specificity of mtDNA haplotypes related to pig breeds win be useful for identifying the maternal lineage as wen as constructing the genealogical pedigree in pigs.

• Current Research on Agriculture and Life Sciences
• /
• v.4
• /
• pp.119-123
• /
• 1986

The study was conducted to find out the gene effects on body weights at weaning and at the age of 60 days in mice, with 343 progenies from full-dialell crosses of four lines of BALB/c, CBA, C3H and C57BL. The progenies were reared at the Experimental Animal Farm, College of Agriculture, Kyungpook National University from November, 1984 to February, 1985, and data collected from the progenies were analyzed into general combining ability, maternal effects, specific combining ability and reciprocal effects with Harvey's model. General combining ability effects estimated in line-crosses were -0.6033~0.5298 for weaning weights and -0.5086~1.0012 for body weights at the age of 60 days. General combining ability for BALB/c and C57BL were significantly better than general combining ability for CBA and C3H for both traits (P<0.05). Maternal effects for C3H were significantly larger than the maternal effects of BALB/c for both traits (P<0.05). The estimates of maternal effects were -0.9678~0.4609 for weaning weights and -1.1886~0.0729 for body weights at the age of 60 days. Specific combining ability effects were estimated to be significant (P<0.05), and the estimates were -0.1999~0.3380 for weaning weights and -0.4056~0.3317 for body weights at the age of 60 days. Reciprocal effects were found to be largest in BALB/c${\times}$C57BL and BALB/c${\times}$C3H. The estimates were -0.5049 from BALB/c${\times}$C57BL and 0.4972 from BALB/c${\times}$C3H form weaning weights, and -1.0336 from BALB/c${\times}$C57BL and 1.2793 from BALB/c${\times}$C3H for body weights at the age of 60 days.

• Journal of Life Science
• /
• v.25 no.9
• /
• pp.970-975
• /
• 2015

The goals of this study were to identify sequence variations in the mitochondrial cytochrome b (mtDNA cyt b) gene in White Hanwoo (Wh) and the genetic relationship between the Wh and other breeds. When whole sequences of the mtDNA cyt b gene in 14 Wh cattle were determined, a silent mutation and two haplotypes were detected in the Wh cattle. The major haplotype, H1, was found in 13 of 14 individuals in the Wh cattle. Haplotype diversity and nucleotide diversity were 0.143 and 0.00013, respectively. Compared to previous reports, these levels of genetic diversity are lower than other Korean and Chinese breeds. To identify the genetic relationship among Korean, Chinese, Japanese, and European cattle breeds, the neighbor-joining (NJ) tree was constructed based on Dxy genetic distances. Two distinct groups were identified and classified as A and B. Wh was found in the A group, which consisted of Bos taurus breeds. From calculating the Dxy genetic distances, Wh was found to be genetically more closely related to two breeds, Heugu (0.00018) and Yanbian (0.00021), than to other breeds. In conclusion, Wh is genetically related to Chikso, Heugu, and Yanbian breeds based on maternal inheritance. The results of this study will be useful for efficient management and sustainable utilization of Wh.

• Clinical and Experimental Pediatrics
• /
• v.51 no.11
• /
• pp.1236-1240
• /
• 2008

Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. The SLOS phenotypic spectrum ranges from a mild disorder with behavioral and learning problems to a lethal disease characterized by multiple malformations. Here, we describe a newborn male with ambiguous genitalia who was diagnosed to have type II SLOS during the neonatal period. A clinical examination revealed low levels of unconjugated estriol in the maternal serum, and a variety of fetal ultrasound anomalies, including prenatal growth retardation. After birth, the infant was diagnosed to have congenital heart disease (Tetralogy of Fallot with severe pulmonary artery stenosis), cleft lip and palate, micrognathia, postaxial polydactyly, ambiguous genitalia, and cataracts. Clinical investigation revealed extremely low plasma cholesterol levels and the presence of mutation (homozygote of p.Arg352Gln) in the DHCR7 gene. The patient underwent palliative heart surgery (to widen the pulmonary artery) and received intravenous lipid supplementation. Cholesterol levels increased slightly, but not to normal values. The patient died from cardiopulmonary failure and sepsis 72 days after birth. This report provides the first description of a Korean patient with SLOS confirmed by verification of DHCR7 gene mutation and illustrates the need for early recognition and appropriate diagnosis of this disease.