• 제목/요약/키워드: human genetics

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Sequencing, Genomic Structure, Chromosomal Mapping and Association Study of the Porcine ADAMTS1 Gene with Litter Size

  • Yue, K.;Peng, J.;Zheng, R.;Li, J.L.;Chen, J.F.;Li, F.E.;Dai, L.H.;Ding, SH.H.;Guo, W.H.;Xu, N.Y.;Xiong, Y.ZH.;Jiang, S.W.
    • Asian-Australasian Journal of Animal Sciences
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    • 제21권7호
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    • pp.917-922
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    • 2008
  • A disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif (ADAMTS1) plays a critical role in follicular rupture and represents a major advance in the proteolytic events that control ovulation. In this study, a 9,026-bp DNA sequence containing the full coding region, all 8 introns and part of the 5'and 3' untranslated region of the porcine ADAMTS1 gene was obtained. Analysis of the ADAMTS1 gene using the porcine radiation hybrid panel indicated that pig ADAMTS1 is closely linkage with microsatellite marker S0215, located on SSC13q49. The open reading frame of its cDNA covered 2,844 bp and encoded 947 amino acids. The coding region of porcine ADAMTS1 as determined by sequence alignments shared 85% and 81% identity with human and mouse cDNAs, respectively. The deduced protein contained 947 amino acids showing 85% sequence similarity both to the human and mouse proteins, respectively. Comparative sequencing of three pig breeds revealed one single nucleotide polymorphism (SNP) within exon 7 of which a G-C substitution at position 6006 changes a codon for arginine into a codon for proline. The substitution was situated within a PvuII recognition site and developed as a PCR-RFLP marker for further use in population variation investigations and association analysis with litter size. Allele frequencies of this SNP were investigated in seven pig breeds/lines. An association analysis in a new Qingping female line suggested that different ADAMTS1 genotypes have significant differences in litter size (p<0.01).

Dissection of Cellular Communication between Human Primary Osteoblasts and Bone Marrow Mesenchymal Stem Cells in Osteoarthritis at Single-Cell Resolution

  • Ying Liu;Yan Chen;Xiao-Hua Li;Chong Cao;Hui-Xi Zhang;Cui Zhou;Yu Chen;Yun Gong;Jun-Xiao Yang;Liang Cheng;Xiang-Ding Chen;Hui Shen;Hong-Mei Xiao;Li-Jun Tan;Hong-Wen Deng
    • International Journal of Stem Cells
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    • 제16권3호
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    • pp.342-355
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    • 2023
  • Background and Objectives: Osteoblasts are derived from bone marrow mesenchymal stem cells (BMMSCs) and play important role in bone remodeling. While our previous studies have investigated the cell subtypes and heterogeneity in osteoblasts and BMMSCs separately, cell-to-cell communications between osteoblasts and BMMSCs in vivo in humans have not been characterized. The aim of this study was to investigate the cellular communication between human primary osteoblasts and bone marrow mesenchymal stem cells. Methods and Results: To investigate the cell-to-cell communications between osteoblasts and BMMSCs and identify new cell subtypes, we performed a systematic integration analysis with our single-cell RNA sequencing (scRNA-seq) transcriptomes data from BMMSCs and osteoblasts. We successfully identified a novel preosteoblasts subtype which highly expressed ATF3, CCL2, CXCL2 and IRF1. Biological functional annotations of the transcriptomes suggested that the novel preosteoblasts subtype may inhibit osteoblasts differentiation, maintain cells to a less differentiated status and recruit osteoclasts. Ligand-receptor interaction analysis showed strong interaction between mature osteoblasts and BMMSCs. Meanwhile, we found FZD1 was highly expressed in BMMSCs of osteogenic differentiation direction. WIF1 and SFRP4, which were highly expressed in mature osteoblasts were reported to inhibit osteogenic differentiation. We speculated that WIF1 and sFRP4 expressed in mature osteoblasts inhibited the binding of FZD1 to Wnt ligand in BMMSCs, thereby further inhibiting osteogenic differentiation of BMMSCs. Conclusions: Our study provided a more systematic and comprehensive understanding of the heterogeneity of osteogenic cells. At the single cell level, this study provided insights into the cell-to-cell communications between BMMSCs and osteoblasts and mature osteoblasts may mediate negative feedback regulation of osteogenesis process.

In Vitro Detection of Apoptosis in Human Promyleoytic Leukemia HL-60 Cells by $^{1}H$-NMR

  • Lee, Chul-Hoon;Lee, Min-A.;Cho, Youl-Hee;Lim, Hae-Young;Jung, Ji-Hyun;Kim, Kyung H.;Lim, Yoong-Ho
    • Journal of Microbiology and Biotechnology
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    • 제11권3호
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    • pp.539-542
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    • 2001
  • $^1H$-NMR spectroscopy was used to detect apoptosis in HL-60 cells in vitro. The relationship between cell apoptosis and NMR data was validated by the flow cytometry assay. To evaluate the NMR apoptosis results, the ratio of methylene and methyl groups caused by lipids was used. In addition, an identical analysis was applied to HepG2 cells. Detection of apoptotic cell death by NMR spectroscopy was oserved.

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Cell Cycle Arrest and Apoptotic Induction by MCS-C2 in Human Leukemia HL-60 Cells

  • Kim, Min-Kyoung;Lee, Chul-Hoon
    • 한국미생물생명공학회:학술대회논문집
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    • 한국미생물생명공학회 2004년도 Annual Meeting BioExibition International Symposium
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    • pp.297-301
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    • 2004
  • The purpose of the present study was to investigate the anti-proliferative and apoptotic effects of MCS-C2, a novel analogue of toyocamycin and sangivamycin, in human promyelocytic leukemia (HL-60) cells. When treated with MCS-C2, inhibited proliferation associated with cell cycle arrest and apoptotic induction was found in the HL-60 cells in a concentration-dependent and time-dependent manner. This apoptotic induction was associated with the cleavage of Bid and a release of cytochrome c from mitochondria into the cytosol, followed by the activation of caspase-3 and inactivation of poly (ADP-ribose) polymerase (PARP). However, there was no significant change in any other mitochondrial membrane proteins, such as Bcl-2 and Bax. Consequently, the current findings suggest that the mitochondrial pathway was primarily involved in the MCS-C2-induced apoptosis in the human promyelocytic leukemia HL-60 cells.

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Human Transcriptome and Chromatin Modifications: An ENCODE Perspective

  • Shen, Li;Choi, Inchan;Nestler, Eric J.;Won, Kyoung-Jae
    • Genomics & Informatics
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    • 제11권2호
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    • pp.60-67
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    • 2013
  • A decade-long project, led by several international research groups, called the Encyclopedia of DNA Elements (ENCODE), recently released an unprecedented amount of data. The ambitious project covers transcriptome, cistrome, epigenome, and interactome data from more than 1,600 sets of experiments in human. To make use of this valuable resource, it is important to understand the information it represents and the techniques that were used to generate these data. In this review, we introduce the data that ENCODE generated, summarize the observations from the data analysis, and revisit a computational approach that ENCODE used to predict gene expression, with a focus on the human transcriptome and its association with chromatin modifications.

Comparative Analysis of Repetitive Elements of Imprinting Genes Reveals Eleven Candidate Imprinting Genes in Cattle

  • Kim, HyoYoung;Kim, Heebal
    • Asian-Australasian Journal of Animal Sciences
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    • 제22권6호
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    • pp.893-899
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    • 2009
  • Few studies have reported the existence of imprinted genes in cattle compared to the human and mouse. Genomic imprinting is expressed in monoallelic form and it depends on a single parent-specific form of the allele. Comparative analysis of mammals other than the human is a valuable tool for explaining the genomic basis of imprinted genes. In this study, we investigated 34 common imprinted genes in the human and mouse as well as 35 known non-imprinted genes in the human. We found short interspersed nuclear elements (SINEs), long interspersed nuclear elements (LINEs), and long terminal repeats (LTRs) in imprinted (human and mouse) and control (cattle) genes. Pair-wise comparisons for the three species were conducted using SINEs, LINEs, and LTRs. We also calculated 95% confidence intervals of frequencies of repetitive sequences for the three species. As a result, most genes had a similar interval between species. We found 11 genes with conserved SINEs, LINEs, and LTRs in the human, mouse, and cattle. In conclusion, eleven genes (CALCR, Grb10, HTR2A, KCNK9, Kcnq1, MEST, OSBPL5, PPP1R9A, Sgce, SLC22A18, and UBE3A) were identified as candidate imprinted genes in cattle.

인간염색체 12q13에 내재한 마우스 Gamm1의 인간유전자 homolog, MYG1의 클로닝과 발현 (Cloning and Expression of a Human Homolog of Mouse Gamml, MVGI, Localized in 12q13)

  • 양금진;이형남;배윤정;신동직;김은민;윤종복;박영일;김준;유지창;김성주
    • KSBB Journal
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    • 제17권4호
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    • pp.370-375
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    • 2002
  • 새로운 유전자를 클로닝하고 그 발현양상을 결정하는 것은 유전자의 기능을 이해하는데 필수적이다. 인간유전자 12q13의 고해상 물리지도를 작성하면서 이 지역의 D12S359와 D12S1618 사이에 내재하는 것으로 mapping된 stSG 3435 EST의 유전자를 클로닝하고 그 발현양상을 조사하였다. NIBI library를 조사하여 stSG 3435를 포함하는 클론 325E4를 분리하여 순차적 결실 방법으로 클로닝하여 자동염기서열분석으로 염기서열을 결정하였다. 1,331 bp의 염기서열을 가진 이 유전자는 Blast search에 의하면 376 개의 아미노산으로 이루어진 단백질로써 인간의 MYGI과 동일하며 마우스의Gamml, melanocyte proliferation gene 1과 86%의 동질성을 보였다. MYGI은 인간염색체의 12에 내재하며 마우스의 Gamml은 syntenic 부위인 마우스 염색체 15에 내재하므로 마우스의 Gamml의 homolog으로 간주된다. Northern blot analysis 결과 MYG1은 인간의 모든 조직에서 발현되며 정소에서 가장 강한 발현을 보였다. 이 유전자의 세포내 발현을 green fluorescence protein과 융합시켜 발현 귀착지를 confocal 현미경으로 동정한 결과 MYG1 단백질은 핵과 리소좀을 제외한 소기관에서 발현되는 것을 관찰하였다.