No abstract available.
Amino Acid Substitution ; Korea ; Penicillin-Binding Proteins ; Penicillins ; Streptococcus

Plateau zokor (Myospalax baileyi) is a subterranean mammal. Plateau zokor has high learning and memory ability, and can determine the location of blocking obstacles in their tunnels. Forkhead box p2 (FOXP2) is a transcription factor implicated in the neural control of orofacial coordination and sensory-motor integration, particularly with respect to learning, memory and vocalization. To explore the association of foxP2 with the high learning and memory ability of plateau zokor, the cDNA of foxP2 of plateau zokor was sequenced; by using plateau pika as control, the expression levels of foxP2 mRNA and FOXP2 protein in brain of plateau zokor were determined by real-time PCR and Western blot, respectively; and the location of FOXP2 protein in the brain of plateau zokor was determined by immunohistochemistry. The result showed that the cDNA sequence of plateau zokor foxP2 was similar to that of other mammals and the amino acid sequences showed a relatively high degree of conservation, with the exception of two particular amino acid substitutions [a Gln (Q)-to-His (H) change at position 231 and a Ser (S)-to-Ile (I) change at position 235]. Higher expression levels of foxP2 mRNA (3-fold higher) and FOXP2 protein (>2-fold higher) were detected in plateau zokor brain relative to plateau pika brain. In plateau zokor brain, FOXP2 protein was highly expressed in the cerebral cortex, thalamus and the striatum (a basal ganglia brain region). The results suggest that the high learning and memory ability of plateau zokor is related to the high expression levels of foxP2 in the brain.
Amino Acid Sequence ; Amino Acid Substitution ; Animals ; Brain ; metabolism ; Forkhead Transcription Factors ; metabolism ; Lagomorpha ; physiology ; Learning ; Memory ; RNA, Messenger

OBJECTIVES: The genes for transporters associated with antigen processing (TAP) are located near to HLA class II coding regions and related to antigen presentation. Therefore polymorphisms of TAP might alter the T-cell mediated immune response and influence susceptibility to schizophrenia, which is known to have alterations in T-cell immunity. The aim of this study was to verify the relationship between schizophrenia and polymorphisms of TAP2 genes. METHODS: 257 patients with schizophrenia and 184 normal controls participated in this study. TAP2 polymorphic residues at positions 379, 565 and 665 were typed using amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and single-strand conformation polymorphism (SSCP). The resulted products, TAP2379, TAP2565 and TAP2665 were assessed. RESULTS: The frequency of TAP2 alleles did not differ between patients with schizophrenia and controls. The polymorphic sites TAP2379, TAP2565 and TAP2665 did not show any difference in their amino acid substitution frequencies. CONCLUSION: This study did not show the association of the TAP2 gene with schizophrenia in Korean population. Further studies are needed to test the informative value of haplotypes including other polymorphic sites.
Alleles ; Amino Acid Substitution ; Antigen Presentation ; Clinical Coding ; Haplotypes ; Humans ; Schizophrenia* ; T-Lymphocytes

Rabies virus (RABV) causes a neurological disease in warm-blooded animals that is nearly always fatal. In this study, we analyzed the matrix (M) genes in 10 Korean street RABV strains isolated from two Provinces during 2011–2013. The M genes in these 10 Korean strains were highly conserved during 1999–2013. Phylogenetic analysis revealed they were closely related to the M genes of RABVs isolated in northeastern China. Specific amino acid substitutions were identified in the KRVB1206, KRVF1301, and BV9901PJ strains. However, functional domains, including those involved in virus production and pathogenicity, were conserved in all 10 strains.
Amino Acid Substitution ; Animals ; China ; Korea* ; Phylogeny ; Rabies virus* ; Rabies* ; Viral Matrix Proteins ; Virulence

Although Korean influenza virus isolates have been genetically associated with the vaccine strains of the corresponding year, influenza B viruses have prevailed almost every year in Korea during the past decades. We have analyzed the genetic characteristics and evolutionary patterns of the haemagglutinin (HA) 1 domains of influenza B viruses isolated during 1988-1999 using direct RT-PCR and sequencing. Phylogenetic analysis of influenza B viruses isolated in Korea indicated that antigenically and genetically distinguishable strains of the lineage II and lineage III variants had been cocirculated. Variants prevailed in early 1990s are represented in 1996/97 and 1998/99 and some different variants have been cocirculated geographically and prevailed concurrently in Korea. All HA1s of Korean isolates have amino acid substitutions mainly in the region between position 124 and 310, which was previously proposed an immunodominant region. Insertion-deletion patterns of the HA gene revealed that Korean influenza B viruses were evolved from Lee40 with different manner between lineage II and III viruses. Lineage III viruses were also divided into two groups as conserved group and inserted group, in relation to Lee40. But lineage II viruses had evolved with directional pattern. Antigenic index proposed that influenza B isolates prevailed since 1996/97 seasons might had emerged from the antigenic variants of a Seo1697-like virus and that new variants might appear from the lineage II viruses resulting in persistent prevalence in Korea.
Amino Acid Substitution ; Influenza B virus* ; Influenza, Human* ; Korea* ; Orthomyxoviridae ; Prevalence ; Seasons

A multitude of protein-coding sequence variations (CVs) in the human genome have been revealed as a result of major initiatives, including the Human Variome Project, the 1000 Genomes Project, and the International Cancer Genome Consortium. This naturally has led to debate over how to accurately assess the functional consequences of CVs, because predicting the functional effects of CVs and their relevance to disease phenotypes is becoming increasingly important. This article surveys and compares variation databases and in silico prediction programs that assess the effects of CVs on protein function. We also introduce a combinatorial approach that uses machine learning algorithms to improve prediction performance.
Amino Acid Substitution ; Computer Simulation ; Genome ; Genome, Human ; Humans ; Mutation, Missense ; Phenotype ; Machine Learning

The first family of hereditary pancreatitis was described in 1952. The mode of inheritance is autosomal dominant trait with an 80% of penetrance rate. Although hereditary pancreatitis is rare, this disorder has provided valuable insights in understanding the pathophysiology of pancreatitis and pancreatic cancer. The causative gene of hereditary pancreatitis was identified in 1996 through mutational analysis of genes within chromosome 7q35. Most forms of hereditary pancreatitis are caused by one of two common mutations, R122H in the third exon or N29I in the second exon of the cationic trypsinogen gene (protease serine 1, PRSS1). R122H mutation is the most common PRSS1 mutation. Additional mutations of the cationic trypsinogen gene have been described. In Korea, first family of hereditary pancreatitis with cationic trypsinogen gene mutation revealed an arginine to histidine amino acid substitution at the residue 122. Patients with hereditary pancreatitis present with symptoms at an early age and have significant risk for the development of chronic pancreatitis and pancreatic cancer. The risk of pancreatic cancer is estimated to be 53-fold higher after the age of 50 years than the general population. The risk of pancreatic cancer is not related to the type of mutation. Since hereditary pancreatitis is a strong risk factor for pancreatic cancer, it is important to establish a diagnostic criteria for diagnosis and surveillance. However, there are potential benefits, risks and limitations in genetic testing for hereditary pancreatitis. It is difficult to provide the proper treatment, but recent developments in therapeutic approaches may be helpful in caring hereditary pancreatitis. This article includes the current status, pathogenesis, clinical features, and management of hereditary pancreatitis including the aspects of pancreatic cancer.
Amino Acid Substitution ; English Abstract ; Humans ; Mutation ; Pancreatitis/diagnosis/*genetics/therapy ; Trypsin/*genetics ; Trypsinogen/*genetics

Lysostaphin (Lysn) is an antibacterial metalloendopeptidase that cleaves the pentaglycin bridges in the cell wall of Staphylococci. Although many studies have demonstrated its high activity in vitro, the medical application of Lysn has been hampered by its short half-life in vivo. In order to enhance its stability in vivo without significantly suppressing the enzymatic activity, we designed and tested eight single cysteine substitutions in Lysn for covalent attachment of polyethylene glycol chains (PEGylation). The purified mutants, fully reduced by Dithiothreitol (DTT), were treated with mPEG-MAL(20 kDa). The PEG modification efficiency was above 70% as determined by reverse-phase high-pressure liquid chromatography (HPLC) analysis. The PEG-Lysn proteins were further purified by cation exchange chromatography (MacroCap SP), reaching at least 95% purity. The activities of the PEG-Lysn proteins were determined by the turbidity and minimum inhibitory concentration (MIC) assays. We found that the PEGylated V240C and T244C mutants retained about 50% of the original antibacterial activity of Lysn. Overall, this study will help develop highly stable and active PEG-Lysn to treat systemic S. aureus infections.
Amino Acid Substitution ; Lysostaphin ; chemistry ; Polyethylene Glycols ; chemistry ; Protein Engineering ; Recombinant Proteins ; chemistry ; Staphylococcus aureus

OBJECTIVETo report on a novel HLA-A allele, A*29:49, identified in a Chinese Han population by sequence based typing (SBT).

METHODSA donor from China Marrow Donor Programme (CMDP) was typed with a bi-allelic PCR-SBT kit, and no full matched result was obtained for the HLA-A locus. The novel HLA allele was verified with an allele-specific amplification SBT kit.

RESULTSA novel HLA-A allele was identified, which has differed by one nucleotide from the closest matched allele, HLA-A*29:01:01:01, at position 368(A→T), codon 99 (TAT→TTT), resulting in an amino acid substitution (Y→F). Another allele was verified as A*02:06:01.

CONCLUSIONA novel HLA-A allele was identified and officially named as HLA-A*29:49 by the WHO Nomenclature Committee for Factors of the HLA System.

Alleles ; Amino Acid Substitution ; genetics ; Base Sequence ; China ; HLA-A Antigens ; genetics ; Humans ; Sequence Analysis, DNA ; methods

OBJECTIVE: To explore the molecular basis for a blood donor with an ABO subtype. METHODS: The proband and his family members were subjected to serological analysis. Their genotypes were determined by real-time PCR and sequencing of the coding regions of ABO gene. RESULTS: The proband was determined as an ABw subtype. By sequencing analysis, the proband was typed as A102/BW03. Compared with ABO*B.01, the proband was found to harbor a 721C>T variant (ABO*BW.03 allele) in exon 7 of the ABO gene, which caused substitution of Arginine at position 241 by Tryptophan resulting in a ABW phenotype. The blood type of the proband's sister was similar to that of the proband. The maternal serological pattern was B type, and the result of sequencing suggested that the genotype fit with B101/Bw03. CONCLUSION The 721C>T in the exon 7 of the ABO glycosyltransferase gene probably underlies the Bw03 phenotype. The ABO*Bw.03 variant of the proband and his sister were inherited from their mother.
ABO Blood-Group System ; genetics ; Amino Acid Substitution ; Female ; Genotype ; Humans ; Male ; Pedigree ; Whole Exome Sequencing