• Title/Summary/Keyword: Genetic Factors

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Comparison of Erythrocyte Traits Among European, Japanese and Korean

  • Kwon, Ji-Sun;Kim, Sang-Soo
    • Genomics & Informatics
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    • v.8 no.3
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    • pp.159-163
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    • 2010
  • Erythrocyte traits are heritable and indirect indicators of blood diseases caused by erythrocyte, but their genetic factors are largely unknown. So we performed genome-wide association study in 8,842 Korean individuals to identify genetic factors influencing erythrocyte traits. We identified 40 associations for three erythrocyte traits at genome-wide significance levels (p < $1{\times}10^{-6}$). We compared these associated loci with those reported in genome-wide association studies of European and Japanese. Our findings include previously identified loci(HBS1L-MYB, TMPRSS6, USP49 and CCND3) in other studies and novel associations (MRDS1/OFCC1, CSDE1, NRAS and 8 other loci). For example, SNP rs4895440 of HBS1L-MYB intergenic region on chromosome 6q23.3 is one of the most associations influencing erythrocyte traits (p=$8.33{\times}10^{-27}$).

The Pathophysiology of Restless Legs Syndrome/Willis-Ekbom Disease (하지불안증후군/윌리스-엑봄병의 병태생리)

  • Cyn, Jaegong
    • Sleep Medicine and Psychophysiology
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    • v.28 no.2
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    • pp.43-52
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    • 2021
  • Restless Legs Syndrome/Willis-Ekbom Disease (RLS/WED) is a sleep disorder characterized by sensorimotor symptoms such as unpleasant sensations before sleep, akathisia, and periodic limb movements during sleep. It is also closely related to hyperarousal and is often accompanied by insomnia. Although the mechanism is not clear, the understanding of etiology and pathophysiology has greatly expanded through recent advances in genetic and neurobiological research. The most important pathophysiology of RLS/WED is brain iron deficiency. Such iron deficiency in the brain is caused by complex interactions between several genetic factors and various environmental factors, including comorbidities. Iron deficiency in the brain results in dysfunction of several neurotransmitters. A decrease in adenosine activity appears first, followed by an increase in the activity of glutamate and dopamine. A decrease in adenosine activity and an increase in glutamate activity stimulate the brain arousal system, resulting in hyperarousal. In addition, overproduction of dopamine and glutamate leads to dysfunction of the cortical-striatal-thalamic circuit, resulting in symptoms such as akathisia and periodic limb movements during sleep.

Multi-omics integration strategies for animal epigenetic studies - A review

  • Kim, Do-Young;Kim, Jun-Mo
    • Animal Bioscience
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    • v.34 no.8
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    • pp.1271-1282
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    • 2021
  • Genome-wide studies provide considerable insights into the genetic background of animals; however, the inheritance of several heritable factors cannot be elucidated. Epigenetics explains these heritabilities, including those of genes influenced by environmental factors. Knowledge of the mechanisms underlying epigenetics enables understanding the processes of gene regulation through interactions with the environment. Recently developed next-generation sequencing (NGS) technologies help understand the interactional changes in epigenetic mechanisms. There are large sets of NGS data available; however, the integrative data analysis approaches still have limitations with regard to reliably interpreting the epigenetic changes. This review focuses on the epigenetic mechanisms and profiling methods and multi-omics integration methods that can provide comprehensive biological insights in animal genetic studies.

The Effects of Genetic Groups, Nutrition, Finishing Systems and Gender of Brazilian Cattle on Carcass Characteristics and Beef Composition and Appearance: A Review

  • Pizzi Rotta, Polyana;do Prado, Rodolpho Martin;do Prado, Ivanor Nunes;Valero, Maribel Velandia;Visentainer, Jesui Vergilio;Silva, Roberio Rodrigues
    • Asian-Australasian Journal of Animal Sciences
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    • v.22 no.12
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    • pp.1718-1734
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    • 2009
  • The aim of this review is to address some characteristics that influence meat quality. Genetic groups, nutrition, finishing systems and gender are the major factors that change carcass characteristics, chemical composition and fatty acid profile. Genetic groups that have zebu genes in their composition show higher hot carcass dressing than genetic groups without zebu genes. Genetic groups that have European breeds in their composition have higher marbling scores. On the other hand, genetic groups that have zebu breeds show low marbling scores. Bulls finished in feedlots present higher final weight than steers, cull cows and heifers. Fat thickness is one of the principal parameters that are affected by different gender. Cull cows (4.72 mm) and heifers (4.00 mm) present higher values than bulls (1.75 mm) and steers (2.81 mm). The major effects observed by different systems of termination are fat thickness and marbling. Crude protein presents variation due to nutrition. Nutrition influences variation of fatty acid profile. Genetic groups also influence fatty acid profile. Genetic groups that have zebu genes in their composition show high percentage of PUFA. The major class of fatty acids that is changed with nutrition is PUFA. The better ratios of PUFA/SFA and n-6/n-3 are found in Longissimus muscle of animals finished in pasture systems.

Establishment of Genetic Transformation System and Introduction of MADS Box Gene in Hot Pepper (Capsicum annuum L.)

  • Lim, Hak-Tae;Zhao, Mei-Ai;Lian, Yu-Ji;Lee, Ji-Young;Eung-Jun park;Chun, Ik-Jo;Yu, Jae-Woong;Kim, Byung-Dong
    • Journal of Plant Biotechnology
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    • v.3 no.2
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    • pp.89-94
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    • 2001
  • In vitro plant regeneration of inbred breeding line of hot pepper (Capsicum annuum L.) was established using leaf and petiole segments as explants. About 28 days old plants were excised and cultured on MS medium supplemented with TDZ and NAA or in combination with Zeatin. In all of the media compositions tested, combination of TDZ 0.5 mg/L, Zeatin 0.5 mg/L, and NAA 0.1 mg/L was found to be the best medium for shoot bud initiation. Young petiole was the most appropriate explant type for the plant regeneration as well as genetic transformation in hot pepper. In this study, HpMADS1 gene isolated from hot pepper was introduced using Agrobacterium-mediated transformation system. Based on the analysis of Southern blot and RT-PCR, HpMADS1 gene was integrated in the hot pepper genome. It has been known that floral organ development is controlled by a group of regulatory factors containing the MADS domain. Morphological characteristics in these transgenic plants, especially flowering habit, however, were not significantly altered, indicating this MADS gene, HpMADS1 may be non-functional in this case.

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Genetic diversity and population structure of Atractylodes japonica $K_{OIDZ}.$ in Korea (한국내 삽주의 유전적 다양성과 집단구조)

  • Huh, Man-Kyu;Sung, Jung-Sook;Park, Chun-Geon;Park, Hee-Woon;Seong, Nak-Sul;Moon, Sung-Gi;Huh, Hong-Wook
    • Korean Journal of Medicinal Crop Science
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    • v.10 no.1
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    • pp.5-11
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    • 2002
  • The study of genetic diversity was carried out in Atractylodes japonica $K_{OIDZ}$. Although this species has been regarded as medically important one, there is no report on population structure in Korea. Starch gel electrophoresis was used to investigate the allozyme variation and genetic structure of eight Korean populations of this species. Of the 15 genetic loci surveyed, nine (60.0%) was polymorphic in at least one population. Genetic diversity was high at the species level $(H_{es}=0.144)$, whereas, that of the population level was relatively low $(H_{ep}=0.128)$. Nearly 87% of the total genetic diversity in A. japonica was apportioned within populations. The sexual reproduction, high fecundity, and perennials are proposed as possible factors contributing to high genetic diversity. The indirect estimated of gene flow based on Gst was 1.69.

ADFP promoter polymorphism associated with marbling score in Korean cattle

  • Cheong, Hyun-Sub;Yoon, Du-Hak;Bae, Joon-Seol;Kim, Lyoung-Hyo;Kim, Eun-Mi;Kim, Ji-On;Hong, Jin;Kim, Nae-Soo;Shin, Hyoung-Doo
    • BMB Reports
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    • v.42 no.8
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    • pp.529-534
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    • 2009
  • Marbling score (MS) is the major trait that affects carcass quality in beef cattle. In this study, we investigated the association between genetic polymorphisms of the adipose differentiation-related protein gene (ADFP) and carcass traits in Korean cattle (also known as Hanwoo). Using direct DNA sequencing in 24 unrelated Korean cattle, 25 novel polymorphisms were identified within all exons and their flanking regions of ADFP, including the promoter region (1.5 kb). Among them, 21 polymorphic sites were selected for genotyping in the beef cattle (n = 425). Statistical analyses revealed that one promoter polymorphism (c.-56-18A > G) was associated with MS (P = 0.009). The 'A' allele of c.-56-18A > G exerted a lowering effect on MS, e.g., the lowest MS was found in 'A/A' (MS = 2.09 ${\pm}$ 1.23), intermediate in 'A/G' (MS = 2.11 ${\pm}$ 1.31), and the highest in 'G/G' (MS = 2.47 ${\pm}$ 1.47). Our findings suggest that these polymorphisms in ADFP might be important genetic factors involved in carcass quality in beef cattle.

The genetically healthy terrestrial orchid Liparis krameri on southern Korean Peninsula

  • CHUNG, Mi Yoon;CHUNG, Jae Min;SON, Sungwon;MAO, Kangshan;LOPEZ-PUJOL, Jordi;CHUNG, Myong Gi
    • Korean Journal of Plant Taxonomy
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    • v.49 no.4
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    • pp.324-333
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    • 2019
  • Neutral genetic diversity found in plant species usually leaves an indelible footprint of historical events. Korea's main mountain range (referred to as the Baekdudaegan [BDDG]), is known to have served as a glacial refugium primarily for the boreal and temperate flora of northeastern Asia. In addition, life-history traits (life forms, geographic range, and breeding systems) influence the within- and among-population genetic diversity of seed plant species. For example, selfing species harbor significantly less within-population genetic variation than that of predominantly outcrossers. A previous study of two Liparis species (L. makinoana and L. kumokiri) emphasizes the role of the abovementioned factors shaping the levels of genetic diversity. Liparis makinoana, mainly occurring on the BDDG and self-incompatible, harbors high levels of within-population genetic diversity (expected heterozygosity, HeP = 0.319), whereas there is no allozyme variation (HeP = 0.000) in L. kumokiri, which is self-compatible and mainly occurs in lowland hilly areas. To determine if this trend is also found in other congeners, we sampled five populations of L. krameri from the southern part of the Korean Peninsula and investigated the allozyme-based genetic diversity at 15 putative loci. The somewhat intermediate levels of within-population genetic variation (HeP = 0.145) found in L. krameri are most likely due to its occurrence in mountainous areas that, despite being outside of the main ridge of the BDDG, still served as refugia, and a self-incompatible breeding system. Management strategies are suggested for L. krameri and L. makinoana based on the levels and distribution of genetic diversity and inbreeding.

Characterization analysis of Rongchang pig population based on the Zhongxin-1 Porcine Breeding Array PLUS

  • Dong Leng;Liangpeng Ge;Jing Sun
    • Animal Bioscience
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    • v.36 no.10
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    • pp.1508-1516
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    • 2023
  • Objective: To carry out a comprehensive production planning of the existing Rongchang pig population from both environmental and genetic aspects, and to establish a closed population with stable genetic diversity and strict pathogen control, it is necessary to fully understand the genetic background of the population. Methods: We genotyped 54 specific pathogen free (SPF) Rongchang pigs using the Zhongxin-1 Porcine Breeding Array PLUS, calculated their genetic diversity parameters and constructed their families. In addition, we also counted the runs of homozygosity (ROH) of each individual and calculated the value of inbreeding coefficient based on ROH for each individual. Results: Firstly, the results of genetic diversity analysis showed that the effective population size (Ne) of this population was 3.2, proportion of polymorphic markers (PN) was 0.515, desired heterozygosity (He) and observed heterozygosity (Ho) were 0.315 and 0.335. Ho was higher than He, indicating that the heterozygosity of all the selected loci was high. Secondly, combining the results of genomic relatedness analysis and cluster analysis, it was found that the existing Rongchang pig population could be divided into four families. Finally, we also counted the ROH of each individual and calculated the inbreeding coefficient value accordingly, whose mean value was 0.09. Conclusion: Due to the limitation of population size and other factors, the genetic diversity of this Rongchang pig population is low. The results of this study can provide basic data to support the development of Rongchang pig breeding program, the establishment of SPF Rongchang pig closed herd and its experimental utilization.

Genetic, management, and nutritional factors affecting intramuscular fat deposition in beef cattle - A review

  • Park, Seung Ju;Beak, Seok-Hyeon;Jung, Da Jin Sol;Kim, Sang Yeob;Jeong, In Hyuk;Piao, Min Yu;Kang, Hyeok Joong;Fassah, Dilla Mareistia;Na, Sang Weon;Yoo, Seon Pil;Baik, Myunggi
    • Asian-Australasian Journal of Animal Sciences
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    • v.31 no.7
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    • pp.1043-1061
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    • 2018
  • Intramuscular fat (IMF) content in skeletal muscle including the longissimus dorsi muscle (LM), also known as marbling fat, is one of the most important factors determining beef quality in several countries including Korea, Japan, Australia, and the United States. Genetics and breed, management, and nutrition affect IMF deposition. Japanese Black cattle breed has the highest IMF content in the world, and Korean cattle (also called Hanwoo) the second highest. Here, we review results of research on genetic factors (breed and sex differences and heritability) that affect IMF deposition. Cattle management factors are also important for IMF deposition. Castration of bulls increases IMF deposition in most cattle breeds. The effects of several management factors, including weaning age, castration, slaughter weight and age, and environmental conditions on IMF deposition are also reviewed. Nutritional factors, including fat metabolism, digestion and absorption of feed, glucose/starch availability, and vitamin A, D, and C levels are important for IMF deposition. Manipulating IMF deposition through developmental programming via metabolic imprinting is a recently proposed nutritional method to change potential IMF deposition during the fetal and neonatal periods in rodents and domestic animals. Application of fetal nutritional programming to increase IMF deposition of progeny in later life is reviewed. The coordination of several factors affects IMF deposition. Thus, a combination of several strategies may be needed to manipulate IMF deposition, depending on the consumer's beef preference. In particular, stage-specific feeding programs with concentrate-based diets developed by Japan and Korea are described in this article.