• Title/Summary/Keyword: Genetic Origin

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Type 1 diabetes genetic susceptibility markers and their functional implications

  • Park, Yongsoo
    • Journal of Genetic Medicine
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    • v.11 no.1
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    • pp.1-10
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    • 2014
  • Type 1 diabetes (T1D) is a chronic autoimmune disease characterized by selective destruction of pancreatic ${\beta}$-cells resulting in insulin deficiency. The genetic determinants of T1D susceptibility have been linked to several loci, in particular to the human leukocyte antigen (HLA) region, which accounts for 50% of the genetic risk of developing T1D. Multiple genes in the HLA region, which are in strong linkage disequilibrium, are thought to be involved. Another important locus, with a smaller effect on genetic predisposition to T1D, is the insulin gene. The advent of numerous single nucleotide polymorphism markers and genome screening has enabled the identification of dozens of new T1D susceptibility loci. Some of them appear to predispose to T1D independently of the HLA and may be important in families with T1D who lack strong HLA susceptibility. Other loci may interact with each other to cause susceptibility. The autoimmune response against ${\beta}$-cells can also be triggered by environmental factors in the presence of a predisposing genetic background. Deciphering the environmental and genetic factors involved should help to understand the origin of T1D and aid in the design of individualized prevention programs.

Evaluating Genetic Diversity of Agaricus bisporus Accessions through Phylogenetic Analysis Using Single-Nucleotide Polymorphism (SNP) Markers

  • Oh, Youn-Lee;Choi, In-Geol;Kong, Won-Sik;Jang, Kab-Yeul;Oh, Min ji;Im, Ji-Hoon
    • Mycobiology
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    • v.49 no.1
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    • pp.61-68
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    • 2021
  • Agaricus bisporus, commonly known as the button mushroom, is widely cultivated throughout the world. To breed new strains with more desirable traits and improved adaptability, diverse germplasm, including wild accessions, is a valuable genetic resource. To better understand the genetic diversity available in A. bisporus and identify previously unknown diversity within accessions, a phylogenetic analysis of 360 Agaricus spp. accessions using single-nucleotide polymorphism genotyping was performed. Genetic relationships were compared using principal coordinate analysis (PCoA) among accessions with known origins and accessions with limited collection data. The accessions clustered into four groups based on the PCoA with regard to genetic relationships. A subset of 67 strains, which comprised a core collection where repetitive and uninformative accessions were not included, clustered into 7 groups following analysis. Two of the 170 accessions with limited collection data were identified as wild germplasm. The core collection allowed for the accurate analysis of A. bisporus genetic relationships, and accessions with an unknown pedigree were effectively grouped, allowing for origin identification, by PCoA analysis in this study.

The parental origin correlates with the karyotype of human embryos developing from tripronuclear zygotes

  • Joergensen, Mette Warming;Labouriau, Rodrigo;Hindkjaer, Johnny;Stougaard, Magnus;Kolevraa, Steen;Bolund, Lars;Agerholm, Inge Errebo;Sunde, Lone
    • Clinical and Experimental Reproductive Medicine
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    • v.42 no.1
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    • pp.14-21
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    • 2015
  • Objective: It has previously been suggested that embryos developing from intracytoplasmic sperm-injected (ICSI) zygotes with three pronuclei (3PN) are endowed with a mechanism for self-correction of triploidy to diploidy. 3PN are also observed in zygotes after conventional in vitro fertilization (IVF). The parental origin, however, differs between the two fertilization methods. Whereas the vast majority of 3PN IVF zygotes are of dispermic origin and thus more likely to have two centrioles, the 3PN ICSI zygotes are digynic in origin and therefore, more likely to have one centriole. In the present study, we examine whether the parental origin of 3PN embryos correlates with the karyotype. Methods: The karyotype of each nucleus was estimated using four sequential fluorescence in situ hybridizations-each with two probes-resulting in quantitative information of 8 different chromosomes. The karyotypes were then compared and correlated to the parental origin. Results: 3PN ICSI embryos displayed a significantly larger and more coordinated reduction from the assumed initial 3 sets of chromosomes than 3PN IVF embryos. Conclusion: The differences in the parental origin-and hence the number of centrioles-between the 3PN IVF and the 3PN ICSI zygotes are likely to be the cause of the differences in karyotypes.

Mitochondrial DNA Diversity and Origin of Red Chittagong Cattle

  • Bhuiyan, M.S.A.;Bhuiyan, A.K.F.H.;Yoon, D.H.;Jeon, J.T.;Park, C.S.;Lee, J.H.
    • Asian-Australasian Journal of Animal Sciences
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    • v.20 no.10
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    • pp.1478-1484
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    • 2007
  • To determine the origin and genetic diversity of Red Chittagong (RC) cattle in Bangladesh, we analyzed mitochondrial DNA displacement loop (D-loop) sequences of 48 samples along with 22 previously published sequences from Bos indicus and Bos taurus breeds. Twenty five haplotypes were identified in RC cattle that were defined by 44 polymorphic sites and nucleotide diversity was $0.0055{\pm}0.0026$. The estimated sequence divergence times between RC and other zebu cattle breeds studied ranged between 22,700-26,900 years before present (YBP) which, it is suggested, predate domestication of RC cattle. Furthermore, it is assumed that introgressions have occurred in this breed mainly from Indian zebu breeds in the recent millennia. The phylogenetic studies showed RC cattle clustered with Bos indicus lineage with two distinct haplogroups representing high genetic variability of this breed. These findings can be used for designing proper breeding and conservation strategies for RC cattle in Bangladesh.

Evaluation of Pathogenic Variability Based on Leaf Blotch Disease Development Components of Bipolaris sorokiniana in Triticum aestivum and Agroclimatic Origin

  • Sultana, Sabiha;Adhikary, Sanjoy Kumar;Islam, Md. Monirul;Rahman, Sorder Mohammad Mahbubur
    • The Plant Pathology Journal
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    • v.34 no.2
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    • pp.93-103
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    • 2018
  • Leaf blotch of wheat caused by Bipolaris sorokiniana is a major constraint to wheat production, causing significant yield reduction resulting in severe economic impact. The present study characterizes to determine and compare pathogenic variability exist/not based on components of leaf blotch disease development and level of aggressiveness due to agroclimatic condition of B. sorokiniana in wheat. A total of 169 virulent isolates of B. sorokiniana isolated from spot blotch infected leaf from different wheat growing agroclimate of Bangladesh. Pathogenic variability was investigated on a susceptible wheat variety 'kanchan' now in Bangladesh. A clear evidence of positive relationship among the components was recorded. From hierarchical cluster analysis five groups were originating among the isolates. It resolved that a large amount of pathogenic diversity exists in Bipolaris sorokiniana. Variation in aggressiveness was found among the isolates from different wheat growing areas. Most virulent isolates BS 24 and BS 33 belonging to High Ganges River Flood Plain agro-climatic zones considered by rice-wheat cropping pattern, hot and humid weather, high land and low organic matter content in soil. Positive relationship was found between pathogenic variability and aggressiveness with agro-climatic condition.

Molecular Genetic Analysis of Ancient Cattle Bones Excavated from Archaeological Sites in Jeju, Korea

  • Kim, Jae-Hwan;Oh, Ju-Hyung;Song, Ji-Hoon;Jeon, Jin-Tae;Han, Sang-Hyun;Jung, Yong-Hwan;Oh, Moon-You
    • Molecules and Cells
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    • v.20 no.3
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    • pp.325-330
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    • 2005
  • Ancient cattle bones were excavated from archaeological sites in Jeju, Korea. We used molecular genetic techniques to identify the species and establish its relationship to extant cattle breeds. Ancient DNA was extracted from four sources: a humerus (Gonae site, A.D. 700-800), two fragments of radius, and a tooth (Kwakji site, A.D. 0-900). The mitochondrial DNA (mtDNA) D-loop regions were cloned, sequenced, and compared with previously reported sequences of various cattle breeds (9 Asian, 8 European, and 3 African). The results revealed that these bones were of the breed, Bos taurus, and a phylogenetic tree indicated that the four cattle bones formed a monophyletic group with Jeju native black cattle. However, the patterns of sequence variation and reports from archaeological sites suggest that a few wild cattle, with a different maternal lineage, may have existed on Jeju Island. Our results will contribute to further studies of the origin of Jeju native cattle and the possible existence of local wild cattle.

Assessment of Genetic Variability in Two North Indian Buffalo Breeds Using Random Amplified Polymorphic DNA (RAPD) Markers

  • Sodhi, M.;Mukesh, M.;Anand, A.;Bhatia, S.;Mishra, B.P.
    • Asian-Australasian Journal of Animal Sciences
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    • v.19 no.9
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    • pp.1234-1239
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    • 2006
  • Murrah and NiliRavi are the important North Indian buffalo breeds occupying the prominent position of being the highest milk producers. These breeds are more or less similar at morphological as well as physiological levels. The technique of RAPD-PCR was applied in the present study to identify a battery of suitable random primers to detect genetic polymorphism, elucidation of the genetic structure and rapid assessment of the differences in the genetic composition of these two breeds. A total of 50 random primers were screened in 24 animals each of Murrah and NiliRavi buffaloes to generate RAPD patterns. Of these, 26 (52%) primers amplified the buffalo genome generating 263 reproducible bands. The number of polymorphic bands for the 26 chosen RAPD primers varied from 3 (OPG 06 and B4) to 26 (OPJ 04) with an average of 10.1 bands per primer and size range of 0.2 to 3.2 kb. DNA was also pooled and analyzed to search for population specific markers. Two breed specific RAPD alleles were observed in each of Murrah (OPA02 and OPG16) and NiliRavi (OPG09) DNA pools. RAPD profiles revealed that 11 (4.2%) bands were common to all the 48 individuals of Murrah and NiliRavi buffaloes. Pair-wise band sharing calculated among the individual animals indicated considerable homogeneity of individuals within the breeds. Within breed, band sharing values were relatively greater than those of interbreed values. The low genetic distance (Nei's) value (0.109) estimated in this study is in accordance with the origin and geographical distribution of these breeds. The RAPD analysis indicated high level of genetic similarity between these two important North Indian buffalo breeds.

Molecular characterization in chromosome 11p15.5 related imprinting disorders Beckwith-Wiedemann and Silver-Russell syndromes

  • Shin, Young-Lim
    • Journal of Genetic Medicine
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    • v.18 no.1
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    • pp.24-30
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    • 2021
  • Epigenetics deals with modifications in gene expression, without altering the underlying DNA sequence. Genomic imprinting is a complex epigenetic phenomenon that refers to parent-of-origin-specific gene expression. Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are congenital imprinting disorders with mirror opposite alterations at the genomic loci in 11p15.5 and opposite phenotypes. BWS and SRS are important imprinting disorders with the increase of knowledge of genetic and epigenetic mechanisms. Altered expression of the imprinted genes in 11p15.5, especially IGF2 and CDKN1C, affects fetal and postnatal growth. A wide range of imprinting defects at multiple loci, instead of a restricted locus, has been shown in some patients with either BWS or SRS. The development of new high-throughput assays will make it possible to allow accurate diagnosis, personalized therapy, and informative genetic counseling.

Detection of Mendelian and Parent-of-origin Quantitative Trait Loci for Meat Quality in a Cross between Korean Native Pig and Landrace

  • Choi, B.H.;Lee, Y.M.;Alam, M.;Lee, J.H.;Kim, T.H.;Kim, K.S.;Kim, J.J.
    • Asian-Australasian Journal of Animal Sciences
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    • v.24 no.12
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    • pp.1644-1650
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    • 2011
  • This study was conducted to detect quantitative trait loci (QTL) affecting meat quality in an $F_2$ reference population of Korean native pig and Landrace crossbreds. The three-generation mapping population was generated with 411 progeny from 38 $F_2$ full-sib families, and 133 genetic markers were used to produce a sex-average map of the 17 autosomes. The data set was analyzed using least squares Mendelian and parent-of-origin interval-mapping models. Lack-of-fit tests between models were used to characterize the QTL for mode of gene expressions. A total of 10 (32) QTL were detected at the 5% genome (chromosome)-wise level for the analyzed traits. Of the 42 QTL detected, 13 QTL were classified as Mendelian, 10 as paternal, 14 as maternal, and 5 as partial expressed QTL, respectively. Among the QTL detected at 5% genome-wise level, four QTL had Mendelian mode of inheritance on SSCs 5, 10, 12, and 13 for cooking loss, drip loss, crude lipid and crude protein, respectively; two QTL maternal inheritance for pH at 24-h and shear force on SSC11; three QTL paternal inheritance for CIE b and Hunter b on SSC9 and for cooking loss on SSC15; and one QTL partial expression for crude ash on SSC13, respectively. Most of the Mendelian QTL (9 of 13) had a dominant mode of gene action, suggesting potential utilization of heterosis for genetic improvement of meat quality within the cross population via marker-assisted selection.

Two Maternal Lineages Revealed by Mitochondrial DNA D-loop Sequences in Chinese Native Water Buffaloes (Bubalus bubalis)

  • Lei, Chu-Zhao;Zhang, Wei;Chen, Hong;Lu, Fan;Ge, Qing-Lan;Liu, Ruo-Yu;Dang, Rui-Hua;Yao, Yun-Yi;Yao, Li-Bo;Lu, Zi-Fan;Zhao, Zhong-liang
    • Asian-Australasian Journal of Animal Sciences
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    • v.20 no.4
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    • pp.471-476
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    • 2007
  • Little is known about the origin and genetic diversity of swamp buffaloes in China. To obtain more knowledge on genetics of the water buffalo in China, the complete mitochondrial D-loop sequences of 30 samples from 6 native types were investigated. The results revealed 12 mitochondrial haplotypes with 50 polymorphic sites. Among these polymorphic sites, there were 49 transitions and 1 transversion. The average nucleotide diversity and haplotype diversity estimated from mtDNA D-loop region in 6 Chinese water buffalo types were 0.00684 and 0.798, respectively, showing rather abundant mitochondrial genetic diversity. The Neighbor-Joining (NJ) tree of mtDNA of Chinese water buffaloes was constructed according to the 12 haplotypes. The NJ tree indicated two lineages being designated lineage A and lineage B, in which lineage A was predominant, and lineage B was at low frequency. The new lineage B was first discovered and defined in 6 Chinese water buffalo types. These results showed that two different maternal lineages were involved in the origin of domestic swamp buffaloes in China and the lineage B was probably an introgression from Southeast Asian buffaloes.