• Journal of the korean academy of Pediatric Dentistry
• /
• v.44 no.2
• /
• pp.164-169
• /
• 2017

Dentinogenesis imperfecta type II (DGI-II) is an inherited disorder affecting the dentin matrix and is related to mutations in the dentin sialophosphoprotein (DSPP) gene. The protein encoded by the DSPP gene undergoes extensive posttranslational modifications. Dentin phosphoprotein (DPP), one of the DSPP expressed products, has unique composition with highly repetitive Asp-Ser-Ser amino acid residues and is related to the maturation of dentin mineralization. We aimed to identify mutation in DSPP, including the DPP coding region, contributing to inherited dentin defects in a Korean family with DGI-II. Clinical and radiographic examinations were performed, and all five exons and exon-intron boundaries of the DSPP gene were sequenced. Additionally, allele-specific cloning for highly repetitive DPP region was performed. By sequencing and cloning, a heterozygous single nucleotide deletion (c.2688delT) was identified. The identified mutation caused a frameshift in the DPP coding region. This frameshift mutation would introduce hydrophobic amino acids instead of hydrophilic amino acids and would result in a change in the characteristics of DPP.

• Journal of Animal Science and Technology
• /
• v.46 no.1
• /
• pp.1-6
• /
• 2004

This study was conducted to investigate novel genetic variations of MCIR^*3 allele. In general, white spotting or white belt on a black backgroud in pigs is determined by the E$^p$ allele at the MCIR/Extention locus. E$^p$ shares a frameshift mutation with the E$^{D2}$ allele for dominant black color. An oligonucleotide primer set was designed to amplify complete coding sequence of the porcine MCIR gene. The MCIR coding sequences obtained from five breeds those were Landrace(white). Yorkshire(white), Hampshire(belt), Berkshire(spot) and Jeju native black pigs(black), were used for this study. A multiple sequence alignment of the MCIR coding region using Clustal W was performed. The total length of the MCIR coding sequence ranged from 963 to 966 base pairs(bp) among the selected breeds. The sequence analysis of the complete coding region of MCIR was revealed that Hampshire and Jeju native black pig have 3 cytosines deletion and Birkshire has 2 cytosines deletion at codon 23(nt68) in Extention loci. Besides the finding, there were three different missense mutations and a frameshift mutation in the MCIR coding region.

• Journal of Genetic Medicine
• /
• v.15 no.2
• /
• pp.97-101
• /
• 2018

Tricho-rhino-phalangeal syndrome (TRPS) is a hereditary disorder characterized by craniofacial and skeletal abnormalities. A mutation of the TRPS1 gene leads to TRPS type I or type III. A 20-year-old male patient visited our neurologic department with chronic fatigue. He presented with short stature, sparse hair, pear-shaped nose, and brachydactyly. Radiologic study showed short metacarpals, metatarsals with cone-shaped epiphyses, hypoplastic femur and hip joint. Panel sequencing for OMIM (Online Mendelian Inheritance in Man) listed genes revealed a de novo heterozygous frameshift mutation of c.1801_1802delGA (p.Arg601Lysfs*3) of exon 4 of the TRPS1 gene. The diagnosis of TRPS can be challenging due to the rarity and variable phenotype of the disease, clinicians should be aware of its characteristic clinical features that will lead a higher rate of diagnosis.

• Clinical and Experimental Pediatrics
• /
• v.49 no.5
• /
• pp.519-522
• /
• 2006

Purpose : Alagille syndrome is an autosomal dominant disorder with developmental abnormalities affecting the liver, heart, eyes, vertebrae, and craniofacial region. The Jagged1(JAG1) gene, which encodes a ligand of Notch, has been found mutated in Alagille syndrome. The aim of the study was to investigate the mutation analysis of JAG1 gene in Korean patients with Alagille syndrome. Methods : Genomic DNA was extracted from peripheral leukocytes of 6 patients. The 26 exons of JAG1 gene were amplified and PCR products were directly sequenced. Results : Two novel frameshift mutations were found. 118delC in exon 2 was found in a patient who developed hepatocellular carcinoma at 4 years of age. 999-1000delTG was identified in exon 7. Conclusion : Mutations identified in this study are expected to give rise to truncated proteins.

• 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.

• Korean Journal of Microbiology
• /
• v.14 no.3
• /
• pp.128-128
• /
• 1976

19 pesticides including 12 insecticides, 2 herbicides and 5 fungicides have been tested for mutagenic activity in the Salmonella/microsome system. It was found that insecticides, DDVP, Trichlorfon, Sumithion, Naled, fungicide, TMTD and herbicide NIP induced base substitute mutation and herbicide MO frameshift mutation. Mutagenicity of Sumithion and NIP was appeared only after rat microsomal enzyme activation and that of TMTD was increased after the microsomal enzyme activation.

• Korean Journal of Microbiology
• /
• v.14 no.3
• /
• pp.123-134
• /
• 1976

19 pesticides including 12 insecticides, 2 herbicides and 5 fungicides have been tested for mutagenic activity in the Salmonella/microsome system. It was found that insecticides, DDVP, Trichlorfon, Sumithion, Naled, fungicide, TMTD and herbicide NIP induced base substitute mutation and herbicide MO frameshift mutation. Mutagenicity of Sumithion and NIP was appeared only after rat microsomal enzyme activation and that of TMTD was increased after the microsomal enzyme activation.

• Journal of Gastric Cancer
• /
• v.5 no.4 s.20
• /
• pp.260-265
• /
• 2005

Purpose: The protein kinase Chk1 is required for cell cycle arrest in response to DNA damage and is shown to play an important role in the G2/M checkpoint. The aim of this study was to investigate the relationship between microsatellite instability and frameshift mutation of the Chk1 gene in gastric cancers. Materials and Methods: The microsatellite instability was analyzed in 95 primary gastric carcinomas by using microdissection and 6 microsatellite markers. We also peformed single strand conformational polymorphism and sequencing to detect frameshift mutation of the Chk1 gene. Results: We found positive microsatellite instability in 19 (20%) of the 95 gastric cancers, 13 high- and 6 low-frequency microsatellite instability cases. The frameshift mutation of Chk1, which resulted in a truncated Chk1 protein, was detected in two high-frequency microsatellite instability cases. Conclusion: These data suggest that the microsatellite instability may contribute to the development of gastric carcinomas through inactivation of Chk1.

• Korean Journal of Food Science and Technology
• /
• v.27 no.6
• /
• pp.944-949
• /
• 1995

To investigate the effect of processing on the antimutagenicity of rice, antimutagenic effect of rice products including cooked rice, plain steamed rice bread(baikseolgi) and parched rice powder were observed. They showed inhibitory effects of $46%{\sim}100%$ on the frameshift mutation, whereas they showed little inhibitory effect on the base substitution mutation in the Salmonella typhimurium reversion assay. No inhibitory effect was found in the SOS chromotest. Inhibitory effect was more clearly observed on the indirect-acting mutagen than on the direct-acting mutagen. In case of the S. typhimurium reversion assay, the range of inhibition rate against the frameshift and base substitution mutation was $75%{\sim}100%$ and $66%{\sim}87%$, respectively, and was $19%{\sim}67%$ in the SOS chromotest. Antimutagenic activity of raw rice was supposed to be maintained in processed rice products.

• Microbiology and Biotechnology Letters
• /
• v.25 no.2
• /
• pp.144-150
• /
• 1997

After DNA damage, umuDC is the only SOS operon that must be induced to promote SOS mutagenesis in Escherichia coli. The recombinant plasmid pBC401 and pBC402 were constructed to fuse the lac structural genes with promoter region of umuDC operon to induce the expression of lacZ gene by DNA damage. We transformed the plasmid pBC401 and pBC402 into E. coli MC1061, lacZ deleted strain and determined the activity of $\beta$-galactosidase for various mutagen; UV, mitomycin C (MMC), N-methyl-N'-nitro-N-nitrosoguanidine (MNNG), 4-nitroqunoline-1-oxide (NQO), ethyl methanesulfonate (EMS). The $\beta$-galactosidase activities of PBC401 and pBC402 for UV, MMC, and NQO were increased in proportion to expression time until 3 hours thereafter, the activities were constant or slightly decreased. The activities for MNNG and EMS were not so high as for UV, MMC, and NQO. When MNNG and EMS were treated, $\beta$-galactosidase activity of pBC402 was slightly lower than pBC401 but when UV, MMC, and NQO were treated in pBC402, $\beta$-galactosidase activity was slightly higher than in pBC401. Therefore, the pBC402 was better than the pBC401 in terms of sensitivity for frameshift mutagen. We suggest that the plasmid pBC401 and pBC402 are easy to detect mutagens which cause frameshift mutation rather than point mutation.