• Title/Summary/Keyword: gene birth

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Mammalian Cloning by Nuclear transfer, Stem Cell, and Enzyme Telomerase (핵치환에 의한 cloning, stem cell, 그리고 효소 telomerase)

  • 한창열
    • Korean Journal of Plant Tissue Culture
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    • v.27 no.6
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    • pp.423-428
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    • 2000
  • In 1997 when cloned sheep Dolly and soon after Polly were born, it had become head-line news because in the former the nucleus that gave rise to the lamb came from cells of six-year-old adult sheep and in the latter case a foreign gene was inserted into the donor nucleus to make the cloned sheep produce human protein, factor IX, in e milk. In the last few years, once the realm of science fiction, cloned mammals especially in livestock have become almost commonplace. What the press accounts often fail to convey, however, is that behind every success lie hundreds of failures. Many of the nuclear-transferred egg cells fail to undergo normal cell divisions. Even when an embryo does successfully implant in the womb, pregnancy often ends in miscarriage. A significant fraction of the animals that are born die shortly after birth and some of those that survived have serious developmental abnormalities. Efficiency remains at less than one % out of some hundred attempts to clone an animal. These facts show that something is fundamentally wrong and enormous hurdles must be overcome before cloning becomes practical. Cloning researchers now tent to put aside their effort to create live animals in order to probe the fundamental questions on cell biology including stem cells, the questions of whether the hereditary material in the nucleus of each cell remains intact throughout development, and how transferred nucleus is reprogrammed exactly like the zygotic nucleus. Stem cells are defined as those cells which can divide to produce a daughter cell like themselves (self-renewal) as well as a daughter cell that will give rise to specific differentiated cells (cell-differentiation). Multicellular organisms are formed from a single totipotent stem cell commonly called fertilized egg or zygote. As this cell and its progeny undergo cell divisions the potency of the stem cells in each tissue and organ become gradually restricted in the order of totipotent, pluripotent, and multipotent. The differentiation potential of multipotent stem cells in each tissue has been thought to be limited to cell lineages present in the organ from which they were derived. Recent studies, however, revealed that multipotent stem cells derived from adult tissues have much wider differentiation potential than was previously thought. These cells can differentiate into developmentally unrelated cell types, such as nerve stem cell into blood cells or muscle stem cell into brain cells. Neural stem cells isolated from the adult forebrain were recently shown to be capable of repopulating the hematopoietic system and produce blood cells in irradiated condition. In plants although the term$\boxDr$ stem cell$\boxUl$is not used, some cells in the second layer of tunica at the apical meristem of shoot, some nucellar cells surrounding the embryo sac, and initial cells of adventive buds are considered to be equivalent to the totipotent stem cells of mammals. The telomere ends of linear eukaryotic chromosomes cannot be replicated because the RNA primer at the end of a completed lagging strand cannot be replaced with DNA, causing 5' end gap. A chromosome would be shortened by the length of RNA primer with every cycle of DNA replication and cell division. Essential genes located near the ends of chromosomes would inevitably be deleted by end-shortening, thereby killing the descendants of the original cells. Telomeric DNA has an unusual sequence consisting of up to 1,000 or more tandem repeat of a simple sequence. For example, chromosome of mammal including human has the repeating telomeric sequence of TTAGGG and that of higher plant is TTTAGGG. This non-genic tandem repeat prevents the death of cell despite the continued shortening of chromosome length. In contrast with the somatic cells germ line cells have the mechanism to fill-up the 5' end gap of telomere, thus maintaining the original length of chromosome. Cem line cells exhibit active enzyme telomerase which functions to maintain the stable length of telomere. Some of the cloned animals are reported prematurely getting old. It has to be ascertained whether the multipotent stem cells in the tissues of adult mammals have the original telomeres or shortened telomeres.

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Genetic Correlation of Carcass and Meat Production Traits with Hormones and Metabolic Components in Hawoo (가축의 혈청 호르몬 및 대사물질 농도와 도체 및 산육형질에 대한 유전상관에 관한 연구)

  • Jeon G. J.;Juong H. Y.;Cho K. H.;Kim M. J.;Kim I. C.;Kim J. B.
    • Journal of Embryo Transfer
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    • v.20 no.3
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    • pp.255-269
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    • 2005
  • This study was aimed to investigate genetic relationships, variables, and correlations between economic traits and metabolic materials in serum components according to bleeding periods and breeding locations for the castrated and not castrated Hanwoo cattle at National Livestock Research Institute. Analysis of variance for serum hormones and metabolic materials showed significant differences by breeding locations except for testosterone and globulin. Statistical differences for serum components were detected by birth year except for cortisol, total protein, globulin and creatinine, and by castration except for total protein and BUN. All the serum components were tended to have sire effects except for testosterone resulting in some degree of additive gene actions. Breeding locations showed statistical significances for carcass weight and back fat thickness, but not in carcass rate, KPH, live weight and transportation weight loss. Effects of breeding locations and castration were significant for all weight measurement periods except for 9 month and 6 month, respectively. A significant sire effect was observed in all weight measurements. Least squared means for concentration of serum components by breeding year, season and castration were not significant. High concentration of cortisol, creatinine and triglyceride and low concentration of IGF-1 and glucose were detected in castrated cattle. Concentration of testosterone with castrated cattle was $5.2\%$ corresponding to non castrated cattle. Estimation of heritabilities of serum components using a sire model with restricted maximum likelihood were ranged 0.07 to 0.58. High heritabilities were estimated for total protein, albumin, globulin, cortisol, creatinine and BUN were 0.53, 0.54, 0.42, 0.45, 0.58 and 0.54, respectively. Low heritabilities were estimated fur calcium, testosterone and IGF-1 for 0.07, 0.15 and 0.12, respectively. Heritabilities for carcass weight, back fat thickness, meat yield index, KPH, and IMF were estimated as 0.39, 0.45, 0.30 0.13, and 0.93. Heritabilities of weights on 18, 12, 9, 6, and 24 month were estimated as 0.78, 0.76, 0.62, 0.58 and 0.58. Estimated heritabilities for average daily gain on 6${\~}$2, 12${\~}$18, and 18${\~}$24 month were 0.80, 0.75 and 0.19, respectively.

A Case of Citrullinemia Type 1 in ASS 1 Mutation (ASS 1 유전자 돌연변이로 확진된 시트룰린혈증 1형 1례)

  • Yim, Dae kyoon;Huh, Rimm;Kwun, Younghee;Lee, Jieun;Cho, Sung Yoon;Park, Hyung Doo;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.15 no.1
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    • pp.29-34
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    • 2015
  • Citrullinemia type1 is an autosomal recessive disorder of the urea cycle characterized by neonatal or late onset of hyperammonemia caused by a deficiency of the enzyme argininosuccinate synthetase (ASS). An ASS1 deficiency demonstrates fatal clinical manifestations that are characterized by the neonatal metabolic coma and early death when untreated. It causes a broad spectrum of effects, ranging from a mild disorder to a severe mental retardation, epilepsy, neurologic deficits. An acute neonatal form is the most common. Infants are normal at birth followed by an acute illness characterized by vomiting, lethargy, seizures and coma. These medical problems are life-threatening in many cases. A later onset form is less frequent and may be milder than the neonatal form. This later-onset form is associated with severe headaches, visual dysfunction, motor dysfunction, and lack of energy. Citrullinemia type1 is caused by mutations in the ASS1 gene located on chromosome 9q34.1 that encodes argininosuccinate synthetase, the third enzyme of the urea cycle catalyzing the formation of argininosuccinic acid from citrulline and aspartic acid. The enzyme is distributed in tissues including liver and fibroblasts. This mutation leads to hyperammonemia, arginine deficiency and elevated citrulline level. In the urea cycle, argininosuccinate synthetase catalyses the conversion of citrulline and aspartate to argininosuccinate.. Here, we describe a female newborn patient with lethargy, rigidity and hyperammonemia who was diagnosed as citrullinemia type1 with a c.[421-2A>G], c.[1128-6_1188dup] mutation.

Installation Art In Indonesian Contemporary Art; A Quest For Medium and Social Spaces (인도네시아 현대미술에 있어서의 설치미술 - 미디엄과 사회적 공간을 위한 탐색)

  • Kusmara, A. Rikrik
    • The Journal of Art Theory & Practice
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    • no.5
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    • pp.217-229
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    • 2007
  • Many historical research and facet about modern art in Indonesia which formulating background of contemporary Indonesian Art. Indonesian art critic Sanento Yuliman states that Modern art has been rapidly developing in Indonesia since the Indonesian Independence in 1945. Modern Art is a part of the super culture of the Indonesian metropolitan and is closely related to the contact between the Indonesian and Western Cultures. Its birth was part of the nationalism project, when the Indonesian people consists of various ethnics were determined to become a new nation, the Indonesian nation, and they wished for a new culture, and therefore, a new art. The period 1960s, which was the beginning of the creation and development of the painters and the painters associations, was the first stage of the development of modern art in Indonesia. The second stage showed the important role of the higher education institutes for art. These institutes have developed since the 1950s and in the 1970s they were the main education institutes for painters and other artists. The artists awareness of the medium, forms or the organization of shapes were encouraged more intensely and these encouraged the exploring and experimental attitudes. Meanwhile, the information about the world's modern art, particularly Western Art; was widely and rapidly spread. The 1960s and 1970s were marked by the development of various abstractions and abstract art and the great number of explorations in various new media, like the experiment with collage, assemblage, mixed media. The works of the Neo Art Movement-group in the second half of the 1970s and in the 1980s shows environmental art and installations, influenced by the elements of popular art, from the commercial world and mass media, as well as the involvement of art in the social and environmental affairs. The issues about the environment, frequently launched by the intellectuals in the period of economic development starting in the 1970s, echoed among the artists, and they were widened in the social, art and cultural circles. The Indonesian economic development following the important change in the 1970s has caused a change in the life of the middle and upper class society, as has the change in various aspects of a big city, particularly Jakarta. The new genre emerged in 1975 which indicates contemporary art in Indonesia, when a group of young artists organized a movement, which was widely known as the Indonesian New Art Movement. This movement criticized international style, universalism and the long standing debate on an east-west-dichotomy. As far as the actual practice of the arts was concerned the movement criticized the domination of the art of painting and saw this as a sign of stagnation in Indonesian art development. Based on this criticism 'the movement' introduced ready-mades and installations (Jim Supangkat). Takes almost two decades that the New Art Movement activists were establishing Indonesian Installation art genre as contemporary paradigm and influenced the 1980's gene ration like, FX Harsono, Dadang Christanto, Arahmaiani, Tisna Sanjaya, Diyanto, Andarmanik, entering the 1990's decade as "rebellion period" ; reject towards established aesthetic mainstream i.e. painting, sculpture, graphic art which are insufficient to express "new language" and artistic needs especially to mediate social politic and cultural situation. Installation Art which contains open possibilities of creation become a vehicle for aesthetic establishment rejection and social politics stagnant expression in 1990s. Installation art accommodates two major field; first, the rejection of aesthetic establishment has a consequences an artists quest for medium; deconstruction models and cross disciplines into multi and intermedia i.e. performance, music, video etc. Second aspect is artists' social politic intention for changes, both conclude as characteristics of Indonesian Installation Art and establishing the freedom of expression in contemporary Indonesian Art until today.

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A Case of Progressive FSGS and Chronic Kidney Disease in Congenital Chloride Diarrhea with SLC26A3 Mutation (선천성 염소성 설사를 가진 환아에서 국소 분절 사구체경화증이 발생하여 만성 신장병으로 발전한 사례)

  • Seo, Young-Jun;Cheong, Han Bin;An, Seok Min;Sin, Woo Cheol;Bae, Eun Joo;Yoon, Jong Hyung;Jeong, Hwal Rim;Lee, Hong Jin
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.18 no.3
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    • pp.87-94
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    • 2018
  • We present the case of long-term observation of a patient with chronic kidney disease (CKD) caused by advanced focal segmental glomerulosclerosis (FSGS) resulting from underlying congenital chloride diarrhea (CLD). A 20-year-old woman was admitted for prolonged proteinuria despite conservative treatment for CLD. She was diagnosed with CLD and started taking KCl salt supplementation from the time of birth. Mild proteinuria was first found at 12 years of age, which progressed to moderate proteinuria at 16 years of age. At 16 years of age, CKD stage 2 with FSGS was diagnosed based on the initial assessment of the glomerular filtration rate (GFR) and kidney histology. On admission, we re-assessed her renal function, histology and genetic analysis. GFR had deteriorated to CKD stage 4 and renal histology revealed an advanced FSGS combined with tubulointerstitial fibrosis. A homozygous mutation in the SLC26A3 gene (c.2063-1G>T) was found by diagnostic exome sequencing and may have been inherited from both parents. CLD patients can be more vulnerable to renal injury, which may also cause progression of renal failure. Therefore, even if there is an early diagnosis and adequate salt supplementation, close monitoring of renal function and tailored treatment should be emphasized for renal protection and favorable CLD prognosis.

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