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Anaerobic ammonium oxidation (anammox) involves the microbiological oxidation of ammonium with nitrite as the electron acceptor and dinitrogen gas as the main product. The Scalindua species, an anammox genus that dominates natural habitats, plays an important role in catalysing the loss of nitrogen from marine environments. Until now, a few Scalindua species have been reported to be enriched from sea sediments. The objective of this study is to enrich marine anammox bacteria with coastal sediments in Hiroshima Bay as the inocula. The enrichment was achieved using a continuous upflow column reactor with synthetic sea water containing ammonium and nitrite. After 48 days of incubation, a simultaneous decrease in ammonium and nitrite was observed. A total nitrogen removal rate of 1.16 kg-N m-3 day-1 was attained after 306 days of incubation when the nitrogen loading rate was 1.32 kg-N m-3 day-1. Phylogenetic analysis revealed that the sequence similarity between the marine anammox-like bacteria in this reactor and the unidentified Candidatus Scalindua sp. was 96-98%. We successfully enriched marine anammox bacteria in the sediments of Hiroshima Bay by using synthetic sea water. Further studies are needed to investigate the characteristics of marine anammox bacteria, including optimal pH, temperature, and nitrogen loading rate. [ABSTRACT FROM AUTHOR]

The optical vibronic emission spectra of the single crystal α-Al2O3 caused by neutron bombardment have been studied. New sharp line features near the 470 nm emission band were found. The phonon side band of the previously found zero-phonon line near the 380 nm emission band is also observed in the present study. Vibronic structures associated with the 470 nm emission band are predominantly featured. The Huang-Rhys factor and the Debye temperature are estimated by a curve fitting method to be 3.2 and 710 K, respectively. It can be seen that the origin of the 470 nm vibronic emission spectra is derived from the F[image omitted] type center. [ABSTRACT FROM AUTHOR]

Many traits including shapes and colors of flowers, fruits and seeds in plants, as well as coat colors and some behavioral properties in animals, are recorded in discrete categories. If categories are ordered, genetic analyses of the categorical traits are often performed using the threshold model, which considers a latent continuous variable, called the liability, underlying a trait and assumes the monotonic relationship between the phenotype and the liability. In some categorical traits, however, descriptions of phenotypes are purely nominal and the phenotypic scores cannot be ordered. The threshold model is unreasonable for the analyses of such unordered categorical traits. In this study, we developed a method for interval mapping of loci affecting unordered categorical traits with more than two categories. The probability of the phenotype of an individual falling in each of the categories was expressed by a polychotomous logistic model, in which the log-odds for each category relative to the reference category were assumed to follow a linear model including genotype at a locus affecting a trait as covariate. Based on the model, the interval mapping using a maximum likelihood method was devised for the analysis of complex categorical traits described with unordered categories. We confined ourselves to the case of F2 populations derived from a cross between two inbred lines, although this approach can easily be extended to the analyses for other populations of general structures. As results of analyses of simulated data show, the method showed high efficiency in detecting the loci affecting unordered categorical traits.Heredity (2006) 96, 185–194. doi:10.1038/sj.hdy.6800783; published online 4 January 2006 [ABSTRACT FROM AUTHOR]

In this paper, we propose a new Bayesian method for QTL analysis in outbred F2 families based on Markov chain Monte Carlo (MCMC) estimation allowing inference about whether each of F0 founders (grandparents) is homozygous or heterozygous at QTL. This, in turn, allows us to select a model accurately explaining observations of phenotypes for F2 individuals. The proposed method performs the fitting a statistical model of the two possible QTL states in each F0 grandparent, that is, homozygous and heterozygous at QTL, and gives a posterior distribution for the QTL states in each F0 grandparent. We confine ourselves to the discrimination of two QTL states, homozygous or heterozygous, for each of the F0 grandparents without taking into consideration whether common alleles are shared by F0 grandparents. The statistical model includes allelic effects and dominance effects for each QTL. The number of parameters representing allelic effects and dominance effects is therefore changed depending on the QTL states. A Reversible Jump MCMC technique is used for transition between the models of different dimensions. The effectiveness of the proposed method was investigated using simulation experiments. It was practicable to estimate the QTL states of F0 grandparents as well as the number, the locations and the effects of QTL segregating in an outbred F2 family.Heredity (2005) 94, 326-337. doi:10.1038/sj.hdy.6800638 Published online 26 January 2005 [ABSTRACT FROM AUTHOR]

Thermoluminescence (TL) mechanisms of neutron-irradiated α-Al2O3 at 20 K is reported. The TL glow curves of neutron-irradiated and γ-ray-irradiated α-Al2O3 were observed. The TL emission bands near 340, 430, 530 and 694 nm were observed in the neutron-irradiated α-Al2O3. The γ-ray-irradiated α-Al2O3 only showed the TL emission line nearly at 694 nm, corresponding to the R lines of α-Al2O3:Cr3+. Therefore, the first three emission bands are related to the atomic displacement defects as F-type centers caused by neutron irradiation. [ABSTRACT FROM AUTHOR]

Identifies the genetic regions in the swine genome that are responsible for economically important traits. Implementation of a quantitative trait loci (QTL) analysis by mating two female Meishan pigs with a male Gottingen pig; Effects of QTL for vertebra number on chromosomes one and two; Environmental effects included in the model of QTL analysis.

Introduction: The acrosin gene (ACR) has been assigned to the terminal region of swine chromosome 5 p-arm, p15, by fluorescence in situ hybridization[sup 1.] The aconitase gene (ACO2) was assumed to map to the p telomeric region of chromosome 5, on the basis of its position in linkage map[sup 1,2.] In order to explore the arrangement of ACO2 and ACR on the chromosome and in the linkage map, we have molecularly cloned porcine genomic fragments containing at least a part of the ACO2 and ACR genes. [ABSTRACT FROM AUTHOR]

Presents the genomic structure of the porcine interleukin-8 gene. Role of chemokines in mobilizing inflammatory cells in response to infections; Restriction fragment length polymorphism analysis; Polymerase chain reaction conditions.

Provides information on the nucleotide polymorphism in the androgen receptor (AR) gene in pigs. Effects of AR mutation; Description of the Mendelian inheritance in pigs; Location of the AR gene.

Respiratory disease is the most important health concern for the swine industry. Genetic improvement for disease resistance is challenging because of the difficulty in obtaining good phenotypes related with disease resistance; however, identification of genes or markers associated with disease resistance can help in the genetic improvement of pig health. The purpose of our study was to investigate whether quantitative trait loci ( QTL) associated with disease resistance were segregated in a purebred population of Landrace pigs that had been selected for meat production traits and mycoplasmal pneumonia of swine ( MPS) scores over five generations. We analysed 1395 pigs from the base to the fifth generation of this population. Two respiratory disease traits [ MPS scores and atrophic rhinitis ( AR) scores] and 11 immune-capacity traits were measured in 630-1332 animals at 7 weeks of age and when the animal's body weight reached 105 kg. Each of the pigs, except sires in the base population, was genotyped using 109 microsatellite markers, and then, QTL analysis of the full-sib family population with a multi-generational pedigree structure was performed. Variance component analysis was used to detect QTL associated with MPS or AR scores, and the logarithm of odds ( LOD) score and genotypic heritability of the QTL were estimated. Five significant ( LOD > 2.51) and 18 suggestive ( LOD > 1.35) QTL for respiratory disease traits and immune-capacity traits were detected. The significant QTL for Log- MPS score, located on S. scrofa chromosome 2, could explain 87% of the genetic variance of this score in this analysis. This is the first report of QTL associated with respiratory disease lesions. [ABSTRACT FROM AUTHOR]

Objective: Interferon therapy can trigger induction of several autoimmune diseases, including type 1 diabetes. To assess the clinical, immunologic, and genetic characteristics of type 1 diabetes induced by interferon therapy, we conducted a nationwide cross-sectional survey.Research Design and Methods: Clinical characteristics, anti-islet autoantibodies, and HLA-DR typing were examined in 91 patients for whom type 1 diabetes developed during or shortly after interferon therapy.Results: Median age at the onset of type 1 diabetes was 56 (interquartile range 48-63) years and mean ± SD BMI was 20.8 ± 2.7 kg/m(2). The time period from the initiation of interferon therapy to type 1 diabetes onset in patients receiving pegylated interferon and ribavirin was significantly shorter than that in patients with nonpegylated interferon single therapy (P < 0.05). Anti-islet autoantibodies were detected in 94.5% of patients at diabetes onset. Type 1 diabetes susceptibility HLA-DRs in the Japanese population, DR4 and DR9, were also associated with interferon treatment-related type 1 diabetes. Furthermore, the prevalence of HLA-DR13 was significantly higher in interferon treatment-related type 1 diabetes than in healthy control subjects (odds ratio 3.80 [95% CI 2.20-7.55]; P < 0.0001) and classical type 1 diabetes (2.15 [1.17-3.93]; P < 0.05).Conclusions: Anti-islet autoantibodies should be investigated before and during interferon therapy to identify subjects at high risk of type 1 diabetes. Stronger antiviral treatment may induce earlier development of type 1 diabetes. Furthermore, patients who develop interferon-induced type 1 diabetes are genetically susceptible. [ABSTRACT FROM AUTHOR]

Objective: The contribution of innate immunity responsible for aggressive β-cell destruction in human fulminant type 1 diabetes is unclear.Research Design and Methods: Islet cell expression of Toll-like receptors (TLRs), cytoplasmic retinoic acid-inducible gene I (RIG-I)-like receptors, downstream innate immune markers, adaptive immune mediators, and apoptotic markers was studied in three autopsied pancreata obtained 2 to 5 days after onset of fulminant type 1 diabetes.Results: RIG-I was strongly expressed in β-cells in all three pancreata infected with enterovirus. Melanoma differentiation-associated gene-5 was hyperexpressed in islet cells, including β- and α-cells. TLR3 and TLR4 were expressed in mononuclear cells that infiltrated islets. Interferon (IFN)-α and IFN-β were strongly expressed in islet cells. Major histocompatibility complex (MHC)-class I, IFN-γ, interleukin-18, and CXC motif ligand 10 were expressed and colocalized in affected islets. CD11c+ MHC-class II+ dendritic cells and macrophage subsets infiltrated most islets and showed remarkable features of phagocytosis of islet cell debris. CD4+ forkhead box P3+ regulatory T cells were not observed in and around the affected islets. Mononuclear cells expressed the Fas ligand and infiltrated most Fas-expressing islets. Retinoic acid-receptor responder 3 and activated caspases 8, 9, and 3 were preferentially expressed in β-cells. Serum levels of IFN-γ were markedly increased in patients with fulminant type 1 diabetes.Conclusions: These findings demonstrate the presence of specific innate immune responses to enterovirus infection connected with enhanced adoptive immune pathways responsible for aggressive β-cell toxicity in fulminant type 1 diabetes. [ABSTRACT FROM AUTHOR]

Herein, we report the variability among 57 porcine homologs of murine coat colour-related genes. We identified single nucleotide polymorphisms (SNPs) and insertions/deletions (InDels) within 44 expressed gene sequences by aligning eight pig complementary DNA (cDNA) samples. The sequence alignment revealed a total of 485 SNPs and 15 InDels. The polymorphisms were then validated by performing matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) with reference DNA samples obtained from 384 porcine individuals. Of the 384 individuals, three parents of the experimental F2 family were included to detect polymorphisms between them for linkage mapping. We also genotyped previously reported polymorphisms of 12 genes, and one SNP each in three genes that were detected by performing a BLAST search of the Trace database. A total of 211 SNPs and three InDels were successfully genotyped from our porcine DNA panel. We detected SNPs in 33 of the 44 genes among the parents of an experimental F2 family and then constructed a linkage map of the 33 genes for this family. The linkage assignment of each gene to the porcine chromosomes was consistent with the location of the BAC clone in the porcine genome and the corresponding gene sequence. We confirmed complete substitutions of EDNRB and MLPH in the Jinhua and Clawn miniature breeds, respectively. Furthermore, we identified polymorphic alleles exclusive to each pig group: 13 for Jinhua, two for Duroc, three for Meishan, four for the Japanese wild boar, one for the Clawn miniature pig and four for the Potbelly pig. [ABSTRACT FROM AUTHOR]

In the livestock industry, meat color has become important because consumer acceptance is subject to the appearance of the product in the market-place. Our previous analyses of a whole genome QTL scan for various meat qualities using 2 F2 families from Japanese wild bar (known as a red meat) x Large White and from Duroc x Chinese Jinhua suggested that a meat color (heme content) QTL is located on SSC6. The objective, of this study was to fine-map this SSC6 meat color QTL and subsequently investigate positional candidate genes for polymorphisms that may cause changes in meat color. Therefore, we conducted interval mapping on SSC6 using an additional 9 gene markers through combined analyses of the 2 F2 families of Japanese wild boar x Large White (353 progeny) and Duroc x Chinese Jinhua (204 progeny). Comparative analysis with humans, mice, and cattle suggested that there were 10 functional genes in the region. Among these genes, we suggested that a novel pig gene encoding a nudix (nucleoside diphosphate linked moiety X)-type motif 7 (NUDT7, a member of the nudix hydrolases) is a strong candidate for the QTL because the mouse Nudt7 is reported to hydrolyze succinyl- CoA, a substrate of the reaction limiting the rate of heme biosynthesis. We therefore determined the pig NUDT7 gene sequence including the 5' promoter region and explored genetic polymorphisms between Japanese wild boar and Large White. We identified 116 polymorphisms within the NUDT7 CDS or in the 5' region. None of the AA substitutions were associated with the meat color QTL; however, 3 polymorphisms were found in putative transcription factor recognition sites. We then investigated the differential expression of NUDT7 in Japanese wild boar and Large White by'allele-specific quantitative real-time PCR. The expression level of the Large White type allele was greater than that of the Japanese wild-boar-type allele. Consequently, we speculated that the difference in meat color between Japanese wild boar and Large White is caused partly by differential expression of this candidate gene. Up- regulation of NUDT7 expression in muscle may reduce succinyl-CoA content and thus reduce the level of herne biosynthesis. [ABSTRACT FROM AUTHOR]

Here, we analysed quantitative trait loci (QTL) for fatty acid composition, one of the factors affecting fat quality, in a Japanese wild boar × Large White cross. We found 25 significant effects for 17 traits at 13 positions at the 5% genome-wise level, of which 16 effects for 12 traits at 10 positions were significant at the 1% level. QTL for saturated fatty acids (SFA) in back fat were mapped to swine ( Sus scrofa) chromosomes (SSC) 1p, 9 and 15. QTL for unsaturated fatty acids in back fat were mapped to SSC1p, 1q, 4, 5, 9, 15 and 17. Using a regression model that fits back fat thickness as a covariate, two of the QTL for linoleic acid content on SSC4 and SSC17 were not significant, but one QTL for total SFA composition was detected on SSC5 with correction for back fat thickness. Wild boar alleles at six of seven QTL tended to increase SFAs and to decrease unsaturated fatty acids. QTL for fatty acid composition in perirenal fat were mapped on SSC2, 3, 4, 5, 6, 14, 16 and X. QTL for melting point (in back fat samples) were mapped on SSC1, 2 and 15. Wild boar alleles in QTL on SSC1 and SSC15 were associated with elevated melting points whereas those on SSC2 were associated with lower melting point measurements. [ABSTRACT FROM AUTHOR]

Abstract: Interstellar and circumstellar matter is known to be strongly irradiated by cosmic radiation and several types of cosmic ray particles. The effects of irradiation on simulated interstellar and circumstellar matter such as , , and are investigated. Especially, thermoluminescence (TL) spectra after -ray and neutron irradiation are compared carefully. It is shown that the thermoluminescence after neutron irradiation appears significantly in the wavelength of blue region. On the reflectance in infrared region, the irradiation effect appears scarcely. [Copyright &y& Elsevier]

To clarify the structure of the porcine genomic region that contains quantitative trait loci (QTL) related to fat, we constructed a bacterial artificial chromosome (BAC) contig of the region from DST to SRPK1 on porcine chromosome 7 and performed low-redundancy ‘skim’ shotgun sequencing of the clones that composed a minimum tiling path of the contig. This analysis revealed that the gene order from VPS52 to SRPK1 is conserved between human and swine and that comparison with the human sequence identified a rearrangement in the swine genome at the proximal end of VPS52. Analysis of the nucleotide sequences of three BAC clones that included the rearrangement point demonstrated that COL21A1 and DST, which were not present in the corresponding human region, were located adjacent to the rearrangement point. These results provide useful information about the genomic region containing QTL for fat in pigs and help to clarify the structure of the so-called ‘extended-class II’ region distal to the porcine major histocompatibility complex class II region. [ABSTRACT FROM AUTHOR]

Reports on the sequences of genes coding for porcine tyrosinase (TYR) and related proteins. Confirmation of TYR and dopachrome tautomerase to chromosomes 9; Detection of single nuclei polymorphism in porcine reference DNA panels; Polymorphism detection in reverse transcriptase polymerase chain reaction.

The objective of the research was to identify QTL affecting the number of vertebrae in swine, one of the major determining factors of growth and body composition. Previously, we reported a QTL for the number of vertebrae located on SSC 1qter (terminal band of the q arm of SSC 1) in an F2 family produced by crossing a Göttingen miniature male with two Meishan females. Eight other swine families were subsequently produced by crosses between different breeds of European, Asian, and miniature pigs. In these families, the QTL on SSC 1qter for the number of vertebrae was detected. Unlike the Asian alleles, all European alleles in this study had the effect of increasing the number of vertebrae by 0.44 to 0.69 and acted additively without dominance. The Göttingen miniature sire, for which we previously reported a smaller additive effect, seemed to be heterozygous at the QTL. In the present study, another QTL was found for the number of vertebrae on SSC7. This QTL was not fixed in the European pigs used as parents in our experimental families, and some of the European alleles increased the number of vertebrae. A half-sib analysis confirmed that this QTL was segregating in a commercial Large White population. Analysis in an F2 family in which the parental pigs were fixed for alternative alleles revealed that the effects of the QTL on SSC1 and on SSC7 were additive and similar in size. The two QTL acted independently without epistatic effects and explained an increase of more than two vertebrae. [ABSTRACT FROM AUTHOR]

Three generations of a swine family produced by crossing a Japanese wild boar and three Large White female pigs were used to map QTL for various production traits. Here we report the results of QTL analyses for skeletal muscle fiber composition and meat quality traits based on phenotypic data of 353 F2 animals and genotypic data of 225 markers covering almost the entire pig genome for all of the F2 animals as well as their F1 parents and F0 grandparents. The results of a genome scan using least squares regression interval mapping provided evidence that QTL (<1% genome-wise error rate) affected the proportion of the number of type IIA muscle fibers on SSC2, the number of type IIB on SSC14, the relative area (RA) of type I on SSCX, the BA of type IIA on SSC6, the RA of type IIB on SSC6 and SSC 14, the Minolta a* values of loin On SSC4 and SSC6, the Minolta b* value of loin on SSC15, and the hematin content of the LM on SSC6. Quantitative trait loci (<5% genome-wise error rate) were found for the number of type I on SSC1, SSCI4, and SSCX, for the number of type IIA on SSCI4, for the number of type JIB on SSC2, for the RA of type hA on SSC2, for the Minolta b* value of loin on SSC3, for the pH of loin on SSC15, and for the i.m. fat content on SSC15. Twenty-four QTL were detected for 11 traits at the 5% genome-wise level. Some traits were associated with each other, so the 24 QTL were located on 11 genomic regions. In five QTL located on SSC2, SSCG, and SSC14, each wild boar allele had the effect of increasing types I and IJA muscle fibers and decreasing type IIB muscle fibers. These effects are expected to improve meat quality. [ABSTRACT FROM AUTHOR]

Several quantitative trait loci (QTL) have been detected on SSCIqter (Sus scrofa chromosome 1qter), including QTL for the number of vertebrae, as reported in our previous study. To provide the tools for analysis of QTLs on SSCIqter, we constructed a comparative map of swine and human. In addition, we identified 26 swine STSs and mapped 16 of them on SSCIqter using the INRA - University of Minnesota porcine radiation hybrid (IMpRH) panel. We screened a BAC library using these swine STSs and developed 35 new polymorphic microsatellite markers from the BAC clones, of which 26 were informative in our reference family. We also mapped nine microsatellite markers we had isolated previously. Consequently a total of 44 new polymorphic microsatellite markers were located within a 60-cM region of SSCIqter, spanning from SW1092 to the telomere. [ABSTRACT FROM AUTHOR]

Summary The complementary DNA (cDNA) partial sequence of the bovine cathepsin-D (CTSD ) precursor, procathepsin-D was determined. The bovine procathepsin-D cDNA sequence and deduced protein sequence exhibited higher homology to their counterparts in sheep than other animals. A comparison of the cDNA sequence among cattle revealed nine single nucleotide polymorphisms (SNPs) in the encoding region and one nucleotide deletion in 3′-untranslated region. Among these SNPs, a guanine (G) to adenine (A) substitution in the pro-fragment region and a change from G to cytosine (C) in the heavy-chain region resulted in a glycine to serine and a glycine to alanine substitution, respectively. Using polymerase chain reaction–restriction fragment length polymorphism, nine different cattle breeds were screened for the presence of both polymorphisms. It was found that three Japanese beef breeds (Japanese Black, Japanese Shorthorn and Japanese Brown) and two zebu breeds (Brahman and Santa Gertrudis) contained these polymorphisms. [ABSTRACT FROM AUTHOR]

Summary Comparative mapping studies facilitate the identification of genes located in quantitative trait locus (QTL) regions in domestic animals by utilizing information from the human genome. Radiation hybrid (RH) mapping is effective for this purpose because of its high resolution in ordered gene mapping on chromosomes. We constructed an RH map of pig chromosome 7, by adding 23 markers associated with genes. This RH map clearly demonstrated the mosaic of homology between pig chromosome 7 (SSC7) and human chromosomes 6, 14 and 15 at a ‘gene’ level, and was confirmed by linkage analysis. Clarification of the homology of SSC7 to human chromosomes will contribute to the elucidation of the gene(s) responsible for QTL detected on this chromosome. [ABSTRACT FROM AUTHOR]

We cloned a gene encoding the swine chemokine (C-C motif) receptor 7 (CCR7) and clarified its genomic structure and chromosomal assignment. The ORF and deduced amino-acid sequence were highly conserved with human and mouse CCR7. The swine CCR7 gene was mapped to SSC12p13→p11 by FISH analysis. Stimulation of swine peripheral blood mononuclear cells by IL-12 and IL-18, considered potent inducers of Th1 cells from analyses in humans and mice, downregulated the expression of CCR7. This is the first report of the molecular cloning, chromosomal assignment and characterization of a chemokine receptor in swine. Copyright © 2003 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Summary The development of informative polymorphic markers is essential for QTL mapping. We developed 50 microsatellite markers from BAC clones containing genes that were predicted to map swine chromosome 4 (SSC4) according to comparative analysis between human and swine chromosomes, and constructed a linkage map that consisted of 37 markers including 24 markers closely linked to genes in BAC clones. Microsatellite markers were developed by direct-sequencing of BAC clones and our results demonstrated that this method was effective for developing microsatellite markers in specific regions on chromosomes. Effective development of microsatellite markers closely linked to genes can further accelerate the comparative studies of chromosomes between different species. [ABSTRACT FROM AUTHOR]

Abstract Aim The mode of onset is occasionally similar in Type 1 and Type 2 diabetes mellitus, and some patients with Type 2 diabetes are positive for antiglutamic acid decarboxylase antibody (GAD Ab). We investigated the contribution of Type 1 diabetes susceptibility genes to the progression of the insulin-deficient state and mode of onset of Type 2 diabetes in GAD Ab-positive (GAD-Ab+) patients. We examined the variable number of tandem repeats in the promoter region of the insulin gene (INS-VNTR, insulin-dependent diabetes mellitus (IDDM) 2) and cytotoxic T lymphocyte antigen 4 (CTLA4, IDDM12) as representative of Type 1 diabetes susceptibility genes. Methods Patients with Type 2 diabetes who were GAD-Ab+ (n = 51) were selected for this study. In INS-VNTR, the class I allele was classified according to length (1S, 25–38 repeat units; 1M, 39–41 repeat units; 1L, 42–44 repeat units) and the exact class I allele length was analysed by specific polymerase chain reaction (PCR) amplifications. Analyses of classes II and III were performed by Southern blot. CTLA4 gene polymorphism (exon 1 position 49, G/A) was analysed by PCR–restriction fragment length polymorphism. Results The distribution of INS-VNTR was no different between Type 1 diabetes and Type 2 diabetes with GAD Ab. The allele frequencies of CTLA4 gene polymorphism G and A in Type 2 diabetes/GAD-Ab+ were significantly different from those of Type 1 diabetes/GAD-Ab+ (G: 53%, A: 47% vs. G: 84%, A: 16%; P < 0.0001). Conclusions Our data showed that GAD-Ab+ Japanese patients presenting with Type 2 diabetes have shifted A allele while patients with abrupt onset have shifted G allele of CTLA4 gene polymorphism. Our results suggest that immunological function and polymorphism of the CTLA4 gene may contribute to the pathogenesis and progression of Type 1 diabetes. Diabet. Med. 18, 726–731 (2001). [ABSTRACT FROM AUTHOR]

The allele frequencies for a Pro12-->Ala substitution in peroxisome proliferator-activated receptor-gamma differ among ethnic groups, and its relationship with diabetes and associated diseases is controversial. The prevalence of this polymorphism and its effects on clinical characteristics have now been evaluated with a large number of Japanese individuals with type 2 diabetes (n = 2,201) and normal control subjects (n = 1,212) recruited by 10 institutions located in seven different cities in Japan. The allele frequency for the Ala12 variant was significantly lower in the type 2 diabetic group than in the control group (2.39 vs. 4.13%, P = 0.000054). However, compared with subjects without the Ala12 variant, the diabetic subjects with this variant exhibited a significantly higher serum concentration of total cholesterol (P = 0.001), manifested a reduced capacity for insulin secretion as evaluated by homeostasis model assessment (P = 0.007), and tended to possess a higher level of HbA1c. These data suggest that the Ala12 variant is associated with a reduced risk for the development of diabetes in the general population, but that it may be also a risk factor for insulin deficiency and disease severity in individuals with type 2 diabetes. [ABSTRACT FROM AUTHOR]

The article reports on the DNA sequences of the coding regions, single nucleotide polymorphism and chromosomal assignments of porcine coat color-related genes. Polymerase chain reaction (PCR) primers for SNP discovery on the reference DNA panel were designed from BAC sequences. Nucleotide polymorphism were detected by aligning reverse-PCR sequences from each sample of several breeds.

Discusses a research about the assignment of homologues of six genes located on human chromosome 8 to porcine chromosome 4 by fluorescence in situ hybridization. Suggestion that SSC4 gene encompasses several quantitative trait loci which are important in pig breeding for economic benefit; Claim that half of the SSC4 gene which are proximal to p-ter shares homology with human chromosome 8.

Analyzes CTLA-4 gene polymorphism in Japanese patients with insulin-dependent diabetes mellitus or autoimmune thyroid disease (AITD). Determination of the A-G transition polymorphism at position 49 by polymerase chain reaction; Increase in the frequency of the G allele in AITD patients; Influence of CTLA-4 gene polymorphism on a common autoimmune process.