• Title/Summary/Keyword: Complex Traits

검색결과 161건 처리시간 0.025초

Digenic or oligogenic mutations in presumed monogenic disorders: A review

  • Afif Ben-Mahmoud;Vijay Gupta;Cheol-Hee Kim;Lawrence C Layman;Hyung-Goo Kim
    • Journal of Genetic Medicine
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    • 제20권1호
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    • pp.15-24
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    • 2023
  • Monogenic disorders are traditionally attributed to the presence of mutations in a single gene. However, recent advancements in genomics have revealed instances where the phenotypic expression of apparently monogenic disorders cannot be fully explained by mutations in a single gene alone. This review article aims to explore the emerging concept of digenic or oligogenic inheritance in seemingly monogenic disorders. We discuss the underlying mechanisms, clinical implications, and the challenges associated with deciphering the contribution of multiple genes in the development and manifestation of such disorders. We present relevant studies and highlight the importance of adopting a broader genetic approach in understanding the complex genetic architecture of these conditions.

A New Record of Aphis solanella (Hemiptera: Aphididae) from South Korea

  • Hyeban Namgung;Min-Ji Lee;Hyojoong Kim
    • Animal Systematics, Evolution and Diversity
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    • 제39권4호
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    • pp.155-159
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    • 2023
  • The Aphis solanella, had been classified as a subspecies of Aphis fabae, is currently recognized as a separated species with A. fabae. The A. solanella is morphologically similar to A. fabae and has the same primary host, but there are differences in the range of the secondary host, physiological and ecological traits, so it has been suggested as a separated species. Since it had not been covered when recording the A. fabae at least including three subspecies in 2006 from South Korea, we recently collected and reconfirmed A. solanella in Busan. Therefore, we report the Aphis solanella as a new record with its description and illustrations.

Genomic data Analysis System using GenoSync based on SQL in Distributed Environment

  • Seine Jang;Seok-Jae Moon
    • International journal of advanced smart convergence
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    • 제13권3호
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    • pp.150-155
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    • 2024
  • Genomic data plays a transformative role in medicine, biology, and forensic science, offering insights that drive advancements in clinical diagnosis, personalized medicine, and crime scene investigation. Despite its potential, the integration and analysis of diverse genomic datasets remain challenging due to compatibility issues and the specialized nature of existing tools. This paper presents the GenomeSync system, designed to overcome these limitations by utilizing the Hadoop framework for large-scale data handling and integration. GenomeSync enhances data accessibility and analysis through SQL-based search capabilities and machine learning techniques, facilitating the identification of genetic traits and the resolution of forensic cases. By pre-processing DNA profiles from crime scenes, the system calculates similarity scores to identify and aggregate related genomic data, enabling accurate prediction models and personalized treatment recommendations. GenomeSync offers greater flexibility and scalability, supporting complex analytical needs across industries. Its robust cloud-based infrastructure ensures data integrity and high performance, positioning GenomeSync as a crucial tool for reliable, data-driven decision-making in the genomic era.

The Korean HapMap Project Website

  • Kim, Young-Uk;Kim, Seung-Ho;Jin, Hoon;Park, Young-Kyu;Ji, Mi-Hyun;Kim, Young-Joo
    • Genomics & Informatics
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    • 제6권2호
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    • pp.91-94
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    • 2008
  • Single nucleotide polymorphisms (SNPs) are the most abundant form of human genetic variation and are a resource for mapping complex genetic traits. A genome is covered by millions of these markers, and researchers are able to compare which SNPs predominate in people who have a certain disease. The International HapMap Project, launched in October, 2002, motivated us to start the Korean HapMap Project in order to support Korean HapMap infrastructure development and to accelerate the finding of genes that affect health, disease, and individual responses to medications and environmental factors. A Korean SNP and haplotype database system was developed through the Korean HapMap Project to provide Korean researchers with useful data-mining information about disease-associated biomarkers for studies on complex diseases, such as diabetes, cancer, and stroke. Also, we have developed a series of software programs for association studies as well as the comparison and analysis of Korean HapMap data with other populations, such as European, Chinese, Japanese, and African populations. The developed software includes HapMapSNPAnalyzer, SNPflank, HWE Test, FESD, D2GSNP, SNP@Domain, KMSD, KFOD, KFRG, and SNP@WEB. We developed a disease-related SNP retrieval system, in which OMIM, GeneCards, and MeSH information were integrated and analyzed for medical research scientists. The kHapMap Browser system that we developed and integrated provides haplotype retrieval and comparative study tools of human ethnicities for comprehensive disease association studies (http://www.khapmap.org). It is expected that researchers may be able to retrieve useful information from the kHapMap Browser to find useful biomarkers and genes in complex disease association studies and use these biomarkers and genes to study and develop new drugs for personalized medicine.

Association between Single Nucleotide Polymorphisms of the Major Histocompatibility Complex Class II Gene and Newcastle Disease Virus Titre and Body Weight in Leung Hang Khao Chickens

  • Molee, A.;Kongroi, K.;Kuadsantia, P.;Poompramun, C.;Likitdecharote, B.
    • Asian-Australasian Journal of Animal Sciences
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    • 제29권1호
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    • pp.29-35
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    • 2016
  • The aim of the present study was to investigate the effect of single nucleotide polymorphisms in the major histocompatibility complex (MHC) class II gene on resistance to Newcastle disease virus and body weight of the Thai indigenous chicken, Leung Hang Khao (Gallus gallus domesticus). Blood samples were collected for single nucleotide polymorphism analysis from 485 chickens. Polymerase chain reaction sequencing was used to classify single nucleotide polymorphisms of class II MHC. Body weights were measured at the ages of 3, 4, 5, and 7 months. Titres of Newcastle disease virus at 2 weeks to 7 months were determined and the correlation between body weight and titre was analysed. The association between single nucleotide polymorphisms and body weight and titre were analysed by a generalized linear model. Seven single nucleotide polymorphisms were identified: C125T, A126T, C209G, C242T, A243T, C244T, and A254T. Significant correlations between log titre and body weight were found at 2 and 4 weeks. Associations between single nucleotide polymorphisms and titre were found for C209G and A254T, and between all single nucleotide polymorphisms (except A243T) and body weight. The results showed that class II MHC is associated with both titre of Newcastle disease virus and body weight in Leung Hang Khao chickens. This is of concern because improved growth traits are the main goal of breeding selection. Moreover, the results suggested that MHC has a pleiotropic effect on the titre and growth performance. This mechanism should be investigated in a future study.

독도 돌피의 분류학적 실체 (Taxonomic Identity of Echinochloa crus-galli (L.) Beauv. var. crus-galli in Dokdo)

  • 최경수;손오경;손성원;김상준;유광필;박선주
    • 한국자원식물학회지
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    • 제26권4호
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    • pp.457-462
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    • 2013
  • 독도에 자생하는 벼과(Poaceae) 식물인 돌피(Echinochloa crus-galli (L.) Beauv.)와 물피(Echinochloa crus-galli var. echinata (Willd.) Honda)의 분류학적 실체를 조사하였다. Echinochloa crus-galli complex에 속하는 2분류군 26개체에 대한 ITS, trnH-psbA 및 trnL-F의 염기서열을 분석하였다. 그 결과 독도의 돌피와 물피를 포함한 조사된 두 분류군은 유전자구간에서 동일한 염기서열을 나타내는 것으로 관찰되었다. 따라서 호영 및 까락 등의 연속적인 형질로 두 분류군을 구분하는 기존의 형태형질에 근거한 분류학적 처리는 재고가 필요할 것으로 보인다. 한편, ITS 경우, 독도에서 채집된 물피와 돌피 개체들은 울릉도 및 육지에서 채집된 개체들과는 별개의 분계조를 형성함으로써 독립된 진화 경로를 거치고 있음을 보여 주었다.

mt DNA 다형이 한우 성장에 미치는 영향 (Effects of Mitochondrial DNA Polymorphism on Growth Traits of Hanwoo)

  • Jeon, G.J.;Chung, H.Y.;Choi, J.G.;Lee, M.S.;Chung, Y.H.;Lee, C.W.;Park, J.J.;Ha, J.M.;Lee, H.K.;Na, K.J.
    • 한국수정란이식학회지
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    • 제18권3호
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    • pp.227-235
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    • 2003
  • 한우의 mt DNA cytochrome oxidase subunit I, II, 및 III complex지역의 유전적 다형현상을 제한효소를 이용하여 검출하였다. PCR primer 6종에 대하여 20가지 제한효소를 처리하였으며, Pst I, Pvu II, Rsa I, Eco RI, Bgl II, and Msp I 제한효소를 사용하여 유전적 변이를 검출하였다. 검출된 변이체와 한우의 성장과의 관련성을 조사한 결과 cytochrome oxidase subunit III complex 지역의 유전염기서열을 근거로 제작한 primer Mt9 좌위에서 제한효소 PvuII를 이용한 절단형과 체중형질 인 WT15(P<0.05) 및 WT18(P<0.01)에서 고도의 유의성이 관찰되었다. 아울러 , Mt9-Pvu II(P=0.07), Mt6-Bgl II(P=0.05), and Mt8-Rsa I(P=0.05) 좌위 또한 WT9, WTl5, and WT15에서 각각 통계적 유의성이 관찰되었다. 따라서 본 결과는 cytochrome oxidase subunit III complex segments가 candidate gene으로서 기초적 유전정 보 제공은 물론 유전적 개량을 위해 사용될 수 있을 것으로 사료된다.

Comparative Transcriptomic Analysis of MAPK-Mediated Regulation of Sectorization in Cryphonectria parasitica

  • Chun, Jeesun;So, Kum-Kang;Ko, Yo-Han;Kim, Jung-Mi;Kim, Dae-Hyuk
    • Molecules and Cells
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    • 제42권4호
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    • pp.363-375
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    • 2019
  • Fungal sectorization is a complex trait that is still not fully understood. The unique phenotypic changes in sporadic sectorization in mutants of CpBck1, a mitogen-activated protein kinase kinase kinase (MAPKKK) gene, and CpSlt2, a mitogen-activated protein kinase (MAPK) gene, in the cell wall integrity pathway of the chestnut blight fungus Cryphonectria parasitica have been previously studied. Although several environmental and physiological factors cause this sectoring phenotype, genetic variants can also impact this complex morphogenesis. Therefore, RNA sequencing analysis was employed to identify candidate genes associated with sectorization traits and understand the genetic mechanism of this phenotype. Transcriptomic analysis of CpBck1 and CpSlt2 mutants and their sectored progeny strains revealed a number of differentially expressed genes (DEGs) related to various cellular processes. Approximately 70% of DEGs were common between the wild-type and each of CpBck1 and CpSlt2 mutants, indicating that CpBck1 and CpSlt2 are components of the same MAPK pathway, but each component governs specific sets of genes. Functional description of the DEGs between the parental mutants and their sectored progenies revealed several key pathways, including the biosynthesis of secondary metabolites, translation, amino acid metabolism, and carbohydrate metabolism; among these, pathways for secondary metabolism and translation appeared to be the most common pathway. The results of this comparative study provide a better understanding of the genetic regulation of sector formation and suggest that complex several regulatory pathways result in interplays between secondary metabolites and morphogenesis.

Genetic Variations of ESR1 Gene are Associated with Bone Mineral Density Traits in Korean Women

  • Jin, Hyun-Seok;Eom, Yong-Bin
    • 대한의생명과학회지
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    • 제18권3호
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    • pp.244-253
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    • 2012
  • Bone mineral density (BMD) is used in the clinical diagnosis of osteoporosis and the assessment of fracture risk. Osteoporosis, characterized mainly by decreased BMD, is a highly heritable complex disorder and a major public health concern to hundreds of millions of elderly persons worldwide. However, the specific genetic variants determining risk for low bone density are still largely unknown. Here, we performed association analysis to elucidate the possible relations of genetic polymorphisms in ESR1 gene with low bone density. By examining genotype data of a total of 1813 women in the Korean Association REsource (KARE) study, we discovered the ESR1 gene polymorphisms are associated with decreased BMD and osteoporosis. The results on the BD-RT (bone density estimated by T-score at distal radius), three SNPs (rs2248586, rs9371557, and rs1569788) within the ESR1 gene were significantly associated with bone density. The results on the BD-TT (bone density estimated by T-score at midshaft tibia), five SNPs (rs9371552, rs2248586, rs712221, rs7772475, and rs3798577) were significantly associated with bone density. The SNP rs2248586 within the ESR1 gene had commonly significance in both BD-RT (${\beta}$=-0.151, dominant P=0.049) and BD-TT (${\beta}$=-0.156, dominant P=0.039). In the SNP rs2248586, their ${\beta}$-values in BD-RT and/or BD-TT showed consistent trends with the odds ratios (ORs) of osteoporosis. In summary, we found statistically significant SNPs in ESR1 gene that are associated with both decreased BMD and osteoporosis traits. Therefore, our findings suggest ESR1 gene could be related to pathogenesis of osteoporosis.

Characterization of Nivalenol-Producing Fusarium asiaticum That Causes Cereal Head Blight in Korea

  • Jang, Ja Yeong;Baek, Seul Gi;Choi, Jung-Hye;Kim, Sosoo;Kim, Jeomsoon;Kim, Da-Woon;Yun, Sung-Hwan;Lee, Theresa
    • The Plant Pathology Journal
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    • 제35권6호
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    • pp.543-552
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    • 2019
  • Fusarium asiaticum of the F. graminearum species complex causes head blight in small-grain cereals. The nivalenol (NIV) chemotypes of F. asiaticum is more common than the deoxynivalenol (DON) chemotypes of F. asiaticum or F. graminearum in Korea. To understand the prevalence of F. asiaticum-NIV in Korean cereals, we characterized the biological traits of 80 cereal isolates of F. asiaticum producing NIV or 3-acetyl-deoxynivalenol (3-ADON), and 54 F. graminearum with 3-ADON or 15-acetyl-deoxynivalenol (15-ADON). There was no significant difference in mycelial growth between the chemotypes, but F. asiaticum isolates grew approximately 30% faster than F. graminearum isolates on potato dextrose agar. Sexual and asexual reproduction capacities differed markedly between the two species. Both chemotypes of F. graminearum (3-ADON and 15-ADON) produced significantly higher numbers of perithecia and conidia than F. asiaticum-NIV. The highest level of mycotoxins (sum of trichothecenes and zearalenone) was produced by F. graminearum-3-ADON on rice medium, followed by F. graminearum-15-ADON, F. asiaticum-3-ADON, and F. asiaticum-NIV. Zearalenone levels were correlated with DON levels in some chemotypes, but not with NIV levels. Disease assessment on barley, maize, rice, and wheat revealed that both F. asiaticum and F. graminearum isolates were virulent toward all crops tested. However, there is a tendency that virulence levels of F. asiaticum-NIV isolates on rice were higher than those of F. graminearum isolates. Taken together, the phenotypic traits found among the Korean F. asiaticum-NIV isolates suggest an association with their host adaptation to certain environments in Korea.