• 제목/요약/키워드: Ancient Genome

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고고유전학의 분석 원리와 최근 고유전체 연구 동향 (Principles of Archaeogenetics and the Current Trends of Ancient Genome Studies)

  • 김태호;우은진;박순영
    • 해부∙생물인류학
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    • 제31권4호
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    • pp.105-119
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    • 2018
  • 고고유전학은 고DNA에 대한 분석을 고고학 및 인류학적 증거와 교차검증함으로써 인류사에 대한 과학적인 사실을 정립하고자 하는 학문이다. 30여 년 전 시작된 고DNA 연구는 급격하게 발전하여 최근 10년간은 전장유전체의 염기서열을 분석하는 고유전체 연구로 그 범위를 확장하였다. 이를 통해 고인류 종들과 현생 인류 고대 집단들의 기원 및 이주 패턴들을 진화유전학적으로 엄밀하게 연구하는 것이 가능해졌다. 본 연구에서는 고고유전학의 전반적인 분석 원리와 최근의 고유전체 연구 성과 및 경향을 검토하였다. 시료 채취 기술 및 통계 분석 방법의 발전, 고인류 및 서유라시아 고대 집단들의 고유전체 연구들을 통해 정립된 연구 방법들은 현재 다른 지역들에도 활발하게 적용되고 있는 추세다. 그러나 한반도를 포함한 동아시아 고유전체 연구는 아직 부진한 실정이다. 본 연구를 통해 아직 수행된 바 없는 한반도 고유전체 연구가 진행될 시 어떠한 사실들을 밝힐 수 있는지 그 가능성을 전망하고자 한다.

Divergent long-terminal-repeat retrotransposon families in the genome of Paragonimus westermani

  • Bae, Young-An;Kong, Yoon
    • Parasites, Hosts and Diseases
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    • 제41권4호
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    • pp.221-231
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    • 2003
  • To gain information on retrotransposons in the genome of Paragonimus westermani, PCR was carried out with degenerate primers, specific to protease and reverse transcriptase (rt) genes of long-terminal-repeat (LTR) retrotransposons. The PCR products were cloned and sequenced, after which 12 different retrotransposon-related sequences were isolated from the trematode genome. These showed various degrees of identity to the polyprotein of divergent retrotransposon families. A phylogenetic analysis demonstrated that these sequences could be classified into three different families of LTR retrotransposons, namely, Xena, Bel, and Gypsy families. Of these, two mRNA transcripts were detected by reverse transcriptase-PCR, showing that these two elements preserved their mobile activities. The genomic distributions of these two sequences were found to be highly repetitive. These results suggest that there are diverse retrotransposons including the ancient Xena family in the genome of P. westermani, which may have been involved in the evolution of the host genome.

Application of CRISPR-Cas9 gene editing for congenital heart disease

  • Seok, Heeyoung;Deng, Rui;Cowan, Douglas B.;Wang, Da-Zhi
    • Clinical and Experimental Pediatrics
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    • 제64권6호
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    • pp.269-279
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    • 2021
  • Clustered regularly interspaced short palindromic repeats and CRISPR-associated protein 9 (CRISPR-Cas9) is an ancient prokaryotic defense system that precisely cuts foreign genomic DNA under the control of a small number of guide RNAs. The CRISPR-Cas9 system facilitates efficient double-stranded DNA cleavage that has been recently adopted for genome editing to create or correct inherited genetic mutations causing disease. Congenital heart disease (CHD) is generally caused by genetic mutations such as base substitutions, deletions, and insertions, which result in diverse developmental defects and remains a leading cause of birth defects. Pediatric CHD patients exhibit a spectrum of cardiac abnormalities such as septal defects, valvular defects, and abnormal chamber development. CHD onset occurs during the prenatal period and often results in early lethality during childhood. Because CRISPR-Cas9-based genome editing technology has gained considerable attention for its potential to prevent and treat diseases, we will review the CRISPR-Cas9 system as a genome editing tool and focus on its therapeutic application for CHD.

Genealogical Diversity of Endogenous Retrovirus in the Jawless Fish Genome

  • Song Jing;Wei Jie;Ma Yongping;Sun Yan;Li Zhi
    • Journal of Microbiology and Biotechnology
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    • 제33권11호
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    • pp.1412-1419
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    • 2023
  • Retroviral integration into ancient vertebrate genomes left traces that can shed light on the early history of viruses. In this study, we explored the early evolution of retroviruses by isolating nine Spuma endogenous retroviruses (ERVs) and one Epsilon ERV from the genomes of Agnatha and Chondrichthyes. Phylogenetic analysis of protein sequences revealed a striking pattern of co-evolution between jawless fish ERV and their host, while shark ERV underwent ancient cross-class viral transmission with jawless fish, ray-finned fish, and amphibians. Nucleotide sequence analysis showed that jawless fish ERV emerged in the Palaeozoic period, relatively later than ray-finned fish ERV. Moreover, codon analysis suggested that the jawless fish ERV employed an infection strategy that mimics the host codon. The genealogical diversity of ERVs in the jawless fish genome highlights the importance of studying different viral species. Overall, our findings provide valuable insights into the evolution of retroviruses and their interactions with their hosts.

A Phylogenetic Analysis for Hox Linked Gene Families of Vertebrates

  • Kim, Sun-Woo;Jung, Gi-La;Lee, Jae-Hyoun;Park, Ha-Young;Kim, Chang-Bae
    • Animal cells and systems
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    • 제12권4호
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    • pp.261-267
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    • 2008
  • The human chromosomes 2, 7, 12 and 17 show genomic homology around Hox gene clusters, is taken as evidence that these paralogous gene families might have arisen from a ancestral chromosomal segment through genome duplication events. We have examined protein data from vertebrate and invertebrate genomes to analyze the phylogenetic history of multi-gene families with three or more of their representatives linked to human Hox clusters. Topology comparison based upon statistical significance and information of chromosome location for these genes examined have revealed many of linked genes coduplicated with Hox gene clusters. Most linked genes to Hox clusters share the same evolutionary history and are duplicated in concert with each other. We conclude that gene families linked to Hox clusters may be suggestion of ancient genome duplications.

Translation and Transcription: the Dual Functionality of LysRS in Mast Cells

  • Yannay-Cohen, Nurit;Razin, Ehud
    • Molecules and Cells
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    • 제22권2호
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    • pp.127-132
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    • 2006
  • In the post genome project era, it is well established that the human genome contains a smaller number of genes than expected. The complexity found in higher organisms can be explained if proteins are multifunctional. Indeed, recent studies are continuing to reveal proteins that are capable of a broad repertoire of functions. A good paradigm for multifunctionality can be found in the amino-acyl tRNA synthetases (aaRSs), an ancient conserved family of proteins. This unique family, which is comprised of 20 different enzymes, is well known for its participation in protein synthesis. Several studies have described numerous examples of these "housekeeping" proteins taking part in extensive critical cellular activities. In this review, we focus on a member of that family, lysyl-tRNA synthetase (LysRS), which has been shown to have a dual functionality. In addition to its contribution to the translation process, LysRS also takes part in the regulation of MITF and USF2 target genes. This phenomenon was first described in mast cells.

Genome-wide scan for runs of homozygosity identifies candidate genes in Wannan Black pigs

  • Wu, Xudong;Zhou, Ren;Zhang, Wei;Cao, Bangji;Xia, Jing;Wang, Caiyun;Zhang, Xiaodong;Chu, Mingxing;Yin, Zongjun;Ding, Yueyun
    • Animal Bioscience
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    • 제34권12호
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    • pp.1895-1902
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    • 2021
  • Objective: Runs of homozygosity (ROH) are contiguous lengths of homozygous genotypes that can reveal inbreeding levels, selection pressure, and mating schemes. In this study, ROHs were evaluated in Wannan Black pigs to assess the inbreeding levels and the genome regions with high ROH frequency. Methods: In a previous study, we obtained 501.52 GB of raw data from resequencing (10×) of the genome and identified 21,316,754 single-nucleotide variants in 20 Wannan Black pig samples. We investigated the number, length, and frequency of ROH using resequencing data to characterize the homozygosity in Wannan Black pigs and identified genomic regions with high ROH frequencies. Results: In this work, 1,813 ROHs (837 ROHs in 100 to 500 kb, 449 ROHs in 500 to 1,000 kb, 527 ROHs in >1,000 kb) were identified in all samples, and the average genomic inbreeding coefficient (FROH) in Wannan Black pigs was 0.5234. Sixty-one regions on chromosomes 2, 3, 7, 8, 13, 15, and 16 harbored ROH islands. In total, 105 genes were identified in 42 ROH islands, among which some genes were related to production traits. Conclusion: This is the first study to identify ROH across the genome of Wannan Black pigs, the Chinese native breed of the Anhui province. Overall, Wannan Black pigs have high levels of inbreeding due to the influence of ancient and recent inbreeding due to the genome. These findings are a reliable resource for future studies and contribute to save and use the germplasm resources of Wannan Black pigs.

Subspecific Status of the Korean Tiger Inferred by Ancient DNA Analysis

  • Lee, Mu-Yeong;Hyun, Jee-Yun;Lee, Seo-Jin;An, Jung-Hwa;Lee, Eun-Ok;Min, Mi-Sook;Kimura, Junpei;Kawada, Shin-Ichiro;Kurihara, Nozomi;Luo, Shu-Jin;O'Brien, Stephen J.;Johnson, Warren E.;Lee, Hang
    • Animal Systematics, Evolution and Diversity
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    • 제28권1호
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    • pp.48-53
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    • 2012
  • The tiger population that once inhabited the Korean peninsula was initially considered a unique subspecies (Panthera tigris coreensis), distinct from the Amur tiger of the Russian Far East (P. t. altaica). However, in the following decades, the population of P. t. coreensis was classified as P. t. altaica and hence forth the two populations have been considered the same subspecies. From an ecological point of view, the classification of the Korean tiger population as P. t. altaica is a plausible conclusion. Historically, there were no major dispersal barriers between the Korean peninsula and the habitat of Amur tigers in Far Eastern Russia and northeastern China that might prevent gene flow, especially for a large carnivore with long-distance dispersal abilities. However, there has yet to be a genetic study to confirm the subspecific status of the Korean tiger. Bone samples from four tigers originally caught in the Korean peninsula were collected from two museums in Japan and the United States. Eight mitochondrial gene fragments were sequenced and compared to previously published tiger subspecies' mtDNA sequences to assess the phylogenetic relationship of the Korean tiger. Three individuals shared an identical haplotype with the Amur tigers. One specimen grouped with Malayan tigers, perhaps due to misidentification or mislabeling of the sample. Our results support the conclusion that the Korean tiger should be classified as P. t. altaica, which has important implications for the conservation and reintroduction of Korean tigers.

지총(知聰)의 실존(實存)과 고대 한국 의학 교류(古代 韓國 醫學 交流)에 대한 역할(役割) (The Existence and Role of Ji-chong for Medical Exchange in Ancient Korea)

  • 김재효;김성철;정헌영;김용;권오상;김경식;손인철
    • 대한한의학회지
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    • 제28권3호통권71호
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    • pp.70-85
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    • 2007
  • Objectives : Considering the indigenousness of Korean medicine, the historical record was first introduced in 1946 as follows; a Chinese person, Ji-chong (知聰), brought 164 volumes of medical books to Japan via Goguryeo (高句麗) in A.D. 562. Since this event happened, Korean Oriental Medicine has been derived from Traditional Chinese Medicine because ancient Korean Medicine originated and was developed in China. The purpose of this study was to investigate the existence and role of Ji-chong in the history of medical exchanges between ancient Korea and Japan. Methods : We studied Ji-chong through ancient and modern historical literatures such as Nihon Shoki (日本書紀), the record of $Shinsen-sh{\bar{o}}jiroku$ (新撰姓氏錄), Korean Medical History (韓國醫學史), Japanese Medical History (日本醫學史), Samguk Sagi (三國史記), etc. Results : We found indications of the existence of Ji-chong and the import of Chinese medical literature to the ancient Korean peninsula by examining domestic and foreign historical literature. Especially, he was closely related to historical assumptions about the Japanese conquest of Goguryeo in A.D. 562, although without objective historical evidence and described only in modern Japanese historical records and Korean Medical History. However, substantial medical exchange toward Japan was accomplished by Korean medicine of either Goguryeo, Baekje (百濟), or Silla (新羅) dynasty until the late A.D. 6 century. Conclusions : Based on the above investigation, the idea that Ji-chong carried medical literature via Goguryeo in A.D. 562 needs to be reconsidered and the role of Ji-chong as recorded in a variety of literature and databases should be amended., Korean Oriental Medicine has been derived from Traditional Chinese Medicine because ancient Korean Medicine originated and was developed in China. The purpose of this study was to investigate the existence and role of Ji-chong in the history of medical exchanges between ancient Korea and Japan. Methods : We studied Ji-chong through ancient and modern historical literatures such as Nihon Shoki (日本書紀), the record of Shinsen-$sh{\bar{o}}jiroku$ (新撰姓氏錄), Korean Medical History (韓國醫學史), Japanese Medical History (日本醫學士), Samguk Sagi (三國史記), etc. Results : We found indications of the existence of Ji-chong and the import of Chinese medical literature to the ancient Korean peninsula by examining domestic and foreign historical literature. Especially, he was closely related to historical assumptions about the Japanese conquest of Goguryeo in A.D. 562, although without objective historical evidence and described only in modern Japanese historical records and Korean Medical History. However, substantial medical exchange toward Japan was accomplished by Korean medicine of either Goguryeo, Baekje (百濟), or Silla (新羅) dynasty until the late A.D. 6 century. Conclusions : Based on the above investigation, the idea that Ji-chong carried medical literature via Goguryeo in A.D. 562 needs to be reconsidered and the role of Ji-chong as recorded in a variety of literature and databases should be amended.

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Divergence of Genes Encoding Non-specific Lipid Transfer Proteins in the Poaceae Family

  • Jang, Cheol Seong;Jung, Jae Hyeong;Yim, Won Cheol;Lee, Byung-Moo;Seo, Yong Weon;Kim, Wook
    • Molecules and Cells
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    • 제24권2호
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    • pp.215-223
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    • 2007
  • The genes encoding non-specific lipid transfer proteins (nsLTPs), members of a small multigene family, show a complex pattern of expressional regulation, suggesting that some diversification may have resulted from changes in their expression after duplication. In this study, the evolution of nsLTP genes within the Poaceae family was characterized via a survey of the pseudogenes and unigenes encoding the nsLTP in rice pseudomolecules and the NCBI unigene database. nsLTP-rich regions were detected in the distal portions of rice chromosomes 11 and 12; these may have resulted from the most recent large segmental duplication in the rice genome. Two independent tandem duplications were shown to occur within the nsLTP-rich regions of rice. The genomic distribution of the nsLTP genes in the rice genome differs from that in wheat. This may be attributed to gene migration, chromosomal rearrangement, and/or differential gene loss. The genomic distribution pattern of nsLTP genes in the Poaceae family points to the existence of some differences among cereal nsLTP genes, all of which diverged from an ancient gene. The unigenes encoding nsLTPs in each cereal species are clustered into five groups. The somewhat different distribution of nsLTP-encoding EST clones between the groups across cereal species imply that independent duplication(s) followed by subfunctionalization (and/or neofunctionalization) of the nsLTP gene family in each species occurred during speciation.