• Title/Summary/Keyword: haplotypes

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Evolutionary Analyses of SSII-1 Gene Provides Insight into Its Domestication Signatures in Collected Rice Accessions

  • Thant Zin Maung;Yong-Jin Park
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2022.10a
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    • pp.215-215
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    • 2022
  • Starch synthase proteins (SSI, SSII and SSIII) in rice are mainly involved in amylopectin synthesis mediating its chain elongation, and the functional loss of SSII can increase amylose accumulation through decreasing of amylopectin chain proportions. For purposes of identifying functional haplotypes and evolutionary analyses of this gene, SSII-1, we investigated 374 rice accessions belonging to different subgroups of origins. We subsequently performed bioinformatic analyses on their variations through haplotyping, resequencing and structuring based on different classified populations. Haplotyping of cultivated rice accessions using genetic variations within SSII-1 genomic region of chromosome 10 revealed a total of 8 haplotypes, representing 6 functional haplotypes by 4 non-synonymous SNPs of three different exons (1, 4 and 10), which effect on protein structure. Higher nucleotide diversity value was found in wild group (0.0055) compared to any of cultivated subpopulations, of which aus showed the most reduction of diversity value (0.0003). Tajima's D analysis exhibits the most Tajima's D value only in admixture group (0.3600) which appears to be the cause of a sudden population contraction by rare alleles scarcity. A clear separation of some wild accessions from the admixed cultivated subpopulations was observed in PCA and phylogenetic analysis. Similar admixed pattern of population structure was estimated with an increased K values of 2 to 8 where genetic components of almost all cultivated subpopulations were shared with the wild which can also be subsequently estimated by very low FST-values by -0.011 (wild-aromatic) and -0.003 (wild-admixture).

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Characterization of PUL Haplotypes and Its Evolutionary Analyses in Korean Rice Accessions

  • Thant Zin Maung;Yong-Jin Park
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2022.10a
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    • pp.217-217
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    • 2022
  • Pullulanase (PUL), a debranching enzyme, has been utilized in hydrolyzing the a-1,6 glucosidic linkages in starch, amylopectin, pullulan, as well as related oligosaccharides. It has also been indicated that PUL is a novel indicator of inherent RS (Resistant Starch) formation in rice. In this study, we performed haplotype analysis on 320 bred rice accessions, and additional 54 wild accessions were added to study genetic diversity along with other population-based analyses of the PUL gene. Through these investigations, we summarized a total of 10 functional (non-synonymous) SNPs from 7 different exons on chromosome 4. There were 10 haplotypes, of which only six haplotypes were functional, implicating different subpopulations. Diversity reduction was noticed in temperate japonica (0.0005) compared to the highest one (aus, 0.0154), illustrating their higher genetic differentiation by FST-value (0.926). The highest Tajima^ D value was observed in indica (3.6613), indicating PUL gene domestication signature under balancing selection, while the lowest Tajima's D value was found in temperate japonica (-2.2191) which might have undergone under positive selection and purified due to the excess of rare alleles. PCA, population structure, and phylogenetic analyses provide information on the genetic relatedness between and or among the cultivated subpopulations and the wild based on PUL genomic region.

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Haplotyping and Evolutionary Studies on GBSSII Gene in Korean Rice Collection

  • May Htet Аung;Yong-Jin Park
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2022.10a
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    • pp.218-218
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    • 2022
  • Granules-bound starch synthase II (GBSSII), one of the isoforms of granule-bound starch synthase (GBSS), is responsible for amylose synthesis by expressing in non-storage tissues such as leaf, stem, root, and pericarp. Up to date, little is known about this gene functions and basic knowledge of heritable characteristics of this gene, GBSSII. We identified functional haplotypes and performed evolutionary analyses on the GBSSII using 374 rice accessions (320 Korean bred and 54 wild) based on the classified groups. A total of 14 haplotypes were found, and almost all haplotypes (13) were functional, carrying 19 non-synonymous SNPs in two exons (exons 1 and 2). The lowest nucleotide diversity was detected in Tropical japonica (0.00145), while the highest pi-value was in Aus (0.01081), illustrating the signal of this gene evolution. The highest Tajima's D value in Aus (1.6380) indicates GBSSII gene domestication signature under balancing selection, while the lowest Tajima's D value in Temperate japonica (-0.8243) highlights that they were under positive selection, which may be purified due to the excess of rare alleles. The highest genetic differentiation was observed between Tropical japonica and aroma (FST = 0.921928). In contrast, the highest interbreed level was detected in Aus-admixture (FST = -0.20157). The genetic relatedness between and or among the wild and cultivated subpopulations was revealed through PCA, population structure, and phylogenetic analyses.

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Association Between HLA-DQ Genotypes and Haplotypes vs Helicobacter pylori Infection in an Indonesian Population

  • Zhao, Yang;Wang, Jingwen;Tanaka, Tsutomu;Hosono, Akihiro;Ando, Ryosuke;Soeripto, Soeripto;Triningsih, F.X. Ediati;Triono, Tegu;Sumoharjo, Suwignyo;Astuti, E.Y. Wenny;Gunawan, Stephanus;Tokudome, Shinkan
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.4
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    • pp.1247-1251
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    • 2012
  • Background: Helicobacter pylori is an important gastrointestinal pathogen related to the development of not only atrophic gastritis and peptic ulcer, but also gastric cancer. Human leukocyte antigens (HLA) may play particular roles in host immune responses to bacterial antigens. This study aimed to investigate the association between HLA-DQA1 and DQB1 genotypes and haplotypes vs H. pylori infection in an Indonesian population. Methods: We selected 294 healthy participants in Mataram, Lombok Island, Indonesia. H. pylori infection was determined by urea breath test (UBT). We analyzed HLA-DQA1 and DQB1 genotypes by PCR-RFLP and constructed haplotypes of HLA-DQA1 and DQB1 genes. Multiple comparisons were conducted according to the Bonferroni method. Results: The H. pylori infection rate was 11.2% in this Indonesian population. The DQB1*0401 genotype was noted to be associated with a high risk of H. pylori infection, compared with the DQB1*0301 genotype. None of the HLA-DQA1 or DQB1 haplotypes were related to the risk of H. pylori infection. Conclusions: The study suggests that HLADQB1 genes play important roles in H. pylori infection, but there was no statistically significant association between HLA-DQA1 or DQB1 haplotypes and H.pylori infection in our Lombok Indonesian population.

Stillbirth rates and their association with swine leucocyte antigen class II haplotypes in Microminipigs

  • Imaeda, Noriaki;Ando, Asako;Matsubara, Tatsuya;Takasu, Masaki;Nishii, Naohito;Miyamoto, Asuka;Ohshima, Shino;Kametani, Yoshie;Suzuki, Shingo;Shiina, Takashi;Ono, Tetsushi;Kulski, Jerzy K.;Kitagawa, Hitoshi
    • Animal Bioscience
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    • v.34 no.11
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    • pp.1749-1756
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    • 2021
  • Objective: Microminipig (MMP) is a miniature pig with an extra small body size for experimental use. In the present study, the occurrence of stillbirths and their genetic association with swine leukocyte antigen (SLA) class II haplotypes were evaluated in a population of MMPs. Methods: The occurrences of stillbirth and genetic association with SLA class II haplotypes using 483 stillborn and 2,246 live piglets, and their parents were compared among the three groups of newborn piglet litters; an all stillborn (AS) group consisting of only stillborn piglet litters, a partial stillborn (PS) group consisting of stillborn and live piglet litters, and an all alive (AA) group consisting of only live piglet litters. Results: The incidence of stillborn piglets was 483/2,729 (17.7%). Distributions of litter sizes, numbers of stillborn piglets in a litter, parities, and gestation periods were distinct among the three groups. The frequencies of low resolution haplotype (Lr)-0.7 or Lr-0.23 were higher in the AS group than in the PS or AA groups. In sires, the frequency of Lr-0.7 associated with the AS group was significantly higher in the AS group than with the AA group. In dams, the frequency of Lr-0.23 was significantly higher in the AS group than in the PS or AA groups, whereas the frequency of Lr-0.7 was not significantly different. Conclusion: The incidence of stillborn piglets in MMPs appears to be higher than those in other pig breeds. Several traits related with stillbirths such as the number of stillborn piglets and parities of the AS group were different from those of the PS and AA groups. Specific SLA class II haplotypes were associated significantly with a high incidence of stillbirths and could be used as genetic markers to adopt breeding strategies to lower the rate of stillbirth in MMPs.

COII Sequence-based Study for Population Genetic Variation of a Ground Beetle, Scarites aterrimus (Coleoptera : Carabidae)

  • Wang, Ah-Rha;Kim, Ik-Soo
    • International Journal of Industrial Entomology and Biomaterials
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    • v.24 no.1
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    • pp.41-47
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    • 2012
  • The Scarites aterrimus (Coleoptera: Carabidae) dwells exclusively on coastal sandy dunes. Previously, we investigated the nation-wide magnitude and nature of genetic diversity of the species using mitochondrial COI gene and found moderate to low magnitude of sequence diversity, the presence of closely related haplotypes, and relatively high gene flow estimate. Based on these observations we concluded that the species had no historical barriers that bolster genetic subdivision and possible population decline. In this study, we additionally sequenced mitochondrial COII gene from 23 individuals collected from 9 Korean localities to confirm previous findings. Sequencing of 688 bp COII gene provided 5 haplotypes ranging in sequence divergence from 0.145% to 0.291% (1 ~ 2 bp), further confirming low sequence divergence of the species. Gene flow estimates and genetic diversity estimates also support the previous findings that there had been no historical barriers that bolster genetic subdivision.

Two-gene sequences and morphology of Gelidium zollingeri (Kutzing) comb. nov. (Gelidiales, Rhodophyta)

  • Kim, Kyeong-Mi;Gerung, Grevo S.;Boo, Sung-Min
    • ALGAE
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    • v.26 no.1
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    • pp.33-40
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    • 2011
  • Porphyroglossum is the last one of nine genera within the family Gelidiaceae that has yet to be analyzed by molecular markers. We analyzed rbcL and cox1 genes from P. zollingeri specimens collected near the type locality in Indonesia and compared them with other gelidioid algae. Thalli are cartilaginous, complanate, and up to 15 cm high. Abundant rhizoidal filaments are concentrated in the medullary layer. Tetrasporangial sori are on small, determinate ramuli. In all gene analyses, P. zollingeri consistently nested within Gelidium. The sister relationship of P. zollingeri to G. floridanum was well resolved. Because Gelidium has priority over Porphyroglossum, a new combination is proposed, viz. Gelidium zollingeri. Network analysis of the four cox1 haplotypes revealed many missing haplotypes, indicating high genetic diversity in the species.

Stock Characterization of the Fleshy Prawn (Penaeus chinensis) in the Yellow Sea by Intraspecific Sequence Variation of the Cytochrome c Oxidase Subunit I Gene

  • HWANG Gyu-Lin
    • Korean Journal of Fisheries and Aquatic Sciences
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    • v.29 no.6
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    • pp.876-881
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    • 1996
  • To determine the amount of genetic variation among populations of Penaeus chinensis (Osbeck) in the Yellow Sea, 342 bp region of the mitochondrial cytochrome c oxidase subunit I gene was amplified and sequenced. Six haplotypes, which differ by from one to four nucleotide sustitutions, were detected from 34 individuals of 4 populations examined. Mean sequence divergence between pairs of haplotypes was $0.68\%$. Most individuals from 4 populations were shared by the most common genotype. This genotype was distributed evenly in the Korean and Chinese populations. This result is in accordance with findings observed using RFLPs analysis of mtDNA (Hwang et al., 1997). Therefore, it is suggested that P. chinensis should be treated as one unit stock in the Yellow Sea.

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Haplotype Phylogeny of a 200kb Region in the Human Chromosome X Terminal Band (q28)

  • Kim, Sang-Soo
    • Genomics & Informatics
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    • v.6 no.3
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    • pp.130-135
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    • 2008
  • The haplotypes of a 200 kb region in the human chromosome X terminal band (q28) were analyzed using the International HapMap Project Phasell data, which had been collected for three analysis panels (YRI, CEU, and CHB+JPT). When multiple linkage disequilibrium blocks were encountered for a panel, the neighboring haplotypes that had crossover rate of 5% or more in the panel were combined to generate 'haploid' configurations. This resulted in 8, 7, and 5 'haploid' configurations for the panels of YRI, CEU, and CHB+JPT, respectively. The multiple sequence alignment of these 'haploids' was used for the calculation of allele-sharing distances and the subsequent principal coordinate analysis. Two 'haploids' in CEU and CHB+JPT were hypothesized as 'parental' in light of the observations that the successive recombinants of these haploids can model two other haploids in CEU and CHB+JPT, and that their configurations were consistent with those in YRI. This study demonstrates the utility of haplotype phylogeny in understanding population evolution.