• Asian Pacific Journal of Cancer Prevention
• /
• 제16권6호
• /
• pp.2555-2559
• /
• 2015

Purpose: To investigate effects of the TESTIN (TES) gene on proliferation and migration of highly metastatic nasopharyngeal carcinoma cell line 5-8F and the related mechanisms. Materials and Methods: The target gene of human nasopharyngeal carcinoma cell line 5-8F was amplified by PCR and cloned into the empty plasmid pEGFP-N1 to construct a eukaryotic expression vector pEGFP-N1-TES. This was then transfected into 5-8F cells. MTT assays, flow cytometry and scratch wound tests were used to detect the proliferation and migration of transfected 5-8F cells. Results: A cell model with stable and high expression of TES gene was successfully established. MTT assays showed that the OD value of 5-8F/TES cells was markedly lower than that of 5-8F/GFP cells and 5-8F cells (p<0.05). Flow cytometry showed that the apoptosis rate of 5-8F/TES cells was prominently increased compared with 5-8F/GFP cells and 5-8F cells (p<0.05). In vitro scratch wound assays showed that, the width of the wound area of 5-8F/TES cells narrowed slightly, while the width of the wound area of 5-8F/ GFP cells and 5-8F cells narrowed sharply, suggesting that the TES overexpression could inhibit the migration ability. Conclusions: TES gene expression remarkably inhibits the proliferation of human nasopharyngeal carcinoma cell line 5-8F and reduces its migration in vitro. Thus, it may be a potential tumor suppressor gene for nasopharyngeal carcinoma.

• Clinical and Experimental Pediatrics
• /
• 제65권4호
• /
• pp.172-181
• /
• 2022

Pubertal onset is known to result from reactivation of the hypothalamic-pituitary-gonadal (HPG) axis, which is controlled by complex interactions of genetic and nongenetic factors. Most cases of precocious puberty (PP) are diagnosed as central PP (CPP), defined as premature activation of the HPG axis. The cause of CPP in most girls is not identifiable and, thus, referred to as idiopathic CPP (ICPP), whereas boys are more likely to have an organic lesion in the brain. ICPP has a genetic background, as supported by studies showing that maternal age at menarche is associated with pubertal timing in their offspring. A gain of expression in the kisspeptin gene (KISS1), gain-of-function mutation in the kisspeptin receptor gene (KISS1R), loss-of-function mutation in makorin ring finger protein 3 (MKRN3), and loss-of-function mutations in the delta-like homolog 1 gene (DLK1) have been associated with ICPP. Other genes, such as gamma-aminobutyric acid receptor subunit alpha-1 (GABRA1), lin-28 homolog B (LIN28B), neuropeptide Y (NPYR), tachykinin 3 (TAC3), and tachykinin receptor 3 (TACR3), have been implicated in the progression of ICPP, although their relationships require elucidation. Environmental and socioeconomic factors may also be correlated with ICPP. In the progression of CPP, epigenetic factors such as DNA methylation, histone posttranslational modifications, and non-coding ribonucleic acids may mediate the relationship between genetic and environmental factors. CPP is correlated with short- and long-term adverse health outcomes, which forms the rationale for research focusing on understanding its genetic and nongenetic factors.

• Asian-Australasian Journal of Animal Sciences
• /
• 제24권12호
• /
• pp.1644-1650
• /
• 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.

• 한국어류학회지
• /
• 제21권4호
• /
• pp.287-290
• /
• 2009

줄종개(Cobitis tetralineata)와 왕종개(Iksookimia longicorpa)간 자연잡종으로 추정되는 개체를 유전적으로 동정하기 위하여 핵 recombination activating gene 1 (RAG1)과 미토콘드리아 cytochrome c oxidase I (COI) 유전자들의 염기서열을 분석하였다. RAG1 염기서열을 분석한 결과 850 bp 중에서 두 친어종들 간에 총 23개의 치환이 관찰되었고, 자연잡종 개체의 electropherogram에서는 이들 치환이 관찰된 모든 위치들에서 double peak들이 관찰되어, 멘델의 유전법칙을 따랐다. 그리고 모계를 통해 자손에게 유전되는 특징을 가지는 미토콘드리아 유전자들 중에서 COI 염기서열을 비교한 결과 잡종 개체는 줄종개와 염기서열이 100% 일치하여 그 모계는 줄종개임이 명확히 밝혀졌다.

• Clinical and Experimental Reproductive Medicine
• /
• 제47권2호
• /
• pp.122-129
• /
• 2020

Objective: The survival of a semi-allogeneic fetus depends on several immunological mechanisms, and it has been suggested that recurrent pregnancy loss (RPL) could develop as a result of one or more immunological abnormalities. Methods: Compatibility between partners for human leukocyte antigen (HLA) genotypes and the relationships between maternal killer-cell immunoglobulin-like receptor (KIR) and paternal HLA-Bw4/Bw6 and HLA-C1/C2 supra-groups were investigated in 25 couples with RPL in comparison to healthy couples with children. HLA and KIR genotyping was performed using polymerase chain reaction with sequence-specific primers and/or sequence-specific oligonucleotides. Results: HLA class I incompatibility between partners, especially in HLA-B alleles, was more common in the RPL group (p= 0.01). HLA-C2 homozygosity was more frequent in the male partners of RPL couples than in other groups (p= 0.03). The KIR2DL5 gene frequency was significantly higher in both the female and male partners of RPL couples, whereas the KIR2DS3 gene frequency in male partners of RPL couples was significantly reduced (p= 0.03). The presence of KIR2DL3 in women with RPL was correlated with the presence of HLA-C2 alleles in their spouses (p= 0.03). Conclusion: Our data from a Turkish population suggest that male HLA-C2 homozygosity may play an important role in RPL. Additionally, an incidental match between male HLA-C2 and female HLA-C1 ligand KIR receptors might perturb the balance between activatory and inhibitory KIR-ligand interactions during pregnancy in couples affected by RPL. The roles of orphan KIR2DL5 and orphan KIR2DS3 in RPL remain obscure.

• Fisheries and Aquatic Sciences
• /
• 제4권1호
• /
• pp.39-46
• /
• 2001

To examine the effect of copy number-dependent transgenic genotype on the expression of foreign gene, stable hemizygous and homozygous transgenic breeding line was established using artificial parthenogenesis. For this purpose, induced diploid gynogenetic transgenesis was optimized in mud loach (Misgurnus mizolepis) using UV-irradiated cyprinid loach (M. anguillicaudatus) sperm and thermal shocks. Optimum UV range for inactivation of cyprinid loach sperm was between 3,150 to $4,050\;ergs/mm^2$ The UV-irradiated sperm were inseminated into eggs from recessive color strain (yellow) or heterozygous transgenic mud loach containing CAT gene. Cold shock at $2^{\circ}C$ for 60 min, 5 min post fertilization successfully restored the diploidy of eggs inseminated with UV-irradiated sperm. Restoration to diploidy was confirmed by flow cytometry and gynogenetic status was verified by examining maternal exclusive inheritance of multi-locus DNA fingerprints, body color and transgenic marker. Putative isogenic transgenic fish clearly showed homozygous status at trans gene locus based on Southern blot hybridization and progeny testing. Further, such homozygous gynogenetic diploids revealed the increased levels of transgene expression, when compared to those of heterozygous (hemizygous) transgenic fish.

• Journal of Ecology and Environment
• /
• 제43권4호
• /
• pp.454-461
• /
• 2019

Background: Ikonnikov's whiskered bat (Myotis ikonnikovi) is found throughout the Korean Peninsula, as well as in Kazakhstan, Russia, Mongolia, China, and Japan. It is small-sized and primarily inhabits old-growth forests. The decrease and fragmentation of habitats due to increased human activity may influence the genetic structure of bat populations. This study was designed to elucidate the population genetic structure of M. ikonnikovi using mitochondrial genes (cytochrome oxidase I and cytochrome b). Results: The results showed that M. ikonnikovi populations from Korea have high genetic diversity. Although genetic differentiation was not detected for the COI gene, strong genetic differentiation of the Cytb gene between Mt. Jeombong and Mt. Jiri populations was observed. Moreover, the results indicated that the gene flow of the maternal lineage may be limited. Conclusions: This study is the first to identify the genetic population structure of M. ikonnikovi. We suggest that conservation of local populations is important for sustaining the genetic diversity of the bat, and comprehensive studies on factors causing habitat fragmentation are required.

• Journal of Genetic Medicine
• /
• 제12권2호
• /
• pp.72-78
• /
• 2015

Recently, noninvasive prenatal test (NIPT) has been adopted as a primary screening tool for fetal chromosomal aneuploidy. The principle of NIPT lies in isolating the fetal fraction of cell-free DNA in maternal plasma and analyzing it with bioinformatic tools to measure the amount of gene from the target chromosome, such as chromosomes 21, 18, and 13. NIPT will contribute to decreasing the need for unnecessary invasive procedures, including amniocentesis and chorionic villi sampling, for confirming fetal aneuploidy because of its higher positive predictive value than that of the conventional prenatal screening method. However, its greater cost than that of the current antenatal screening protocol may be an obstacle to the adoption of this innovative technique in clinical practice. Digital polymerase chain reaction (dPCR) is a novel approach for detecting and quantifying nucleic acid. dPCR provides real-time diagnostic advantages with higher sensitivity, accuracy, and absolute quantification than conventional quantitative PCR. Since the groundbreaking discovery that fetal cell-free nucleic acid exists in maternal plasma was reported, dPCR has been used for the quantification of fetal DNA and for screening for fetal aneuploidy. It has been suggested that dPCR will decrease the cost by targeting specific sequences in the target chromosome, and dPCR-based noninvasive testing will facilitate progress toward the implementation of a noninvasive approach for screening for trisomy 21, 18, and 13. In this review, we highlight the principle of dPCR and discuss its future implications in clinical practice.

• Asian-Australasian Journal of Animal Sciences
• /
• 제15권10호
• /
• pp.1378-1385
• /
• 2002

The importance of direct genetic, maternal, heterosis and epistatic effects were examined on post-weaning weight, height, length, girth, fat depth and muscle (ratio of stifle to hip width) with dry and wet season gains in these traits. The breeds used were two pure breeds (Jersey and Limousin), the Limousin${\times}$Jersey $F_1$, and two backcrosses ($F_1{\times}$Jersey dams and $F_1{\times}$Limousin dams). Direct genetic effects were large (p<0.001) for all traits except for length. Jersey maternal effects were large for weight, girth, fat depth and muscle in the post-weaning wet season gains which is an evidence of the impact of Jersey dam on progeny beyond weaning. There were large heterosis effects on fat depth and muscle relative to other traits. Epistatic effects were observed for post-weaning performance in weight, girth, fat depth and muscle. There are indications that there were different genetic effects for post-weaning compared to preweaning growth traits. Thus, it could be hypothesized from this study that different quantitative trait loci (QTL) affect early and late growth in Jersey and Limousin cross cattle breeds. The follow up work will examine the different chromosomal gene effects on pre- and post-weaning growth.

• 한국발생생물학회지:발생과생식
• /
• 제15권1호
• /
• pp.1-7
• /
• 2011

It is suggested that FGF/Ras/MEK/Erk signaling plays crucial roles in specification and cell division of the mesodermal precursor cells in ascidian embryos. To investigate how the number of cell division in tissue precursor cells is determined, we have characterized Wee1 homolog, Hr-Wee1 of the ascidian Halocynthia roretzi. We found that the Hr-Wee1 mRNA is expressed both maternally and zygotically. Maternal transcript is localized to the cytoplasm in the animal cells, while zygotic expression is seen in cells of the endoderm lineage from 32-cell to 110-cell stages. Zygotic in situ signal is detected in the A-line neural plate cells of neurulae, and in epidermal cells of the head region of tailbud embryos. Embryos treated with MEK signaling inhibitor showed a similar pattern to normal embryos in expression of Hr-Wee1. Therefore, it is likely that MEK signaling does not affect the maternal and zygotic expression of Hr-Wee1.