• Title/Summary/Keyword: human genetics

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DAZL binds to the transcripts of several Tssk genes in germ cells

  • Zeng, Mei;Deng, Wenqian;Wang, Xinying;Qiu, Weimin;Liu, Yanyan;Sun, Huaqin;Tao, Dachang;Zhang, Sizhong;Ma, Yongxin
    • BMB Reports
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    • v.41 no.4
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    • pp.300-304
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    • 2008
  • The Dazl gene encodes a germ-cell-specific RNA-binding protein which is essential for spermatogenesis. It has been proposed that this protein (DAZL) binds to RNA in the cytoplasm of germ cells and controls spermatogenesis. Using the specific nucleic acids associated with proteins (SNAAP) technique, we identified 17 target mRNAs bound by mDAZL. Among these transcripts, we focused on TSSK2, which encodes a testis-specific serine/threonine kinase. To date, five TSSK family members have been cloned, and all are exclusively expressed in the testis. We demonstrated that in addition to the TSSK1 3'UTR, the 3'UTRs of TSSKs 2 and 4 were bound by human and mouse DAZL, and that human DAZL (hDAZL) bound to the 3'UTR of human TSSK5 (hTSSK5). Our results suggest that the Dazl gene may play different roles in human and mouse spermatogenesis by regulating different members of the downstream gene family.

Expression and localization of the spermatogenesis-related gene, Znf230, in mouse testis and spermatozoa during postnatal development

  • Song, Hongxia;Su, Dan;Lu, Pan;Yang, Jiyun;Zhang, Wei;Yang, Yuan;Liu, Yunqiang;Zhang, Sizhong
    • BMB Reports
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    • v.41 no.9
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    • pp.664-669
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    • 2008
  • Znf230, the mouse homologue of the human spermatogenesis-related gene, ZNF230, has been cloned by rapid amplification of cDNA ends (RACE). This gene is expressed predominantly in testis, but its expression in different testicular cells and spermatogenic stages has not been previously analyzed in detail. In the present study, the cellular localization of the Znf230 protein in mouse testis and epididymal spermatozoa was determined by RT-PCR, immunoblotting, immunohistochemistry and immunofluorescence. It is primarily expressed in the nuclei of spermatogonia and subsequently in the acrosome system and the entire tail of developing spermatids and spermatozoa. The results indicate that Znf230 may play an important role in mouse spermatogenesis, including spermatogenic cell proliferation and sperm maturation, as well as motility and fertilization.

Differential Expression of DNA Repair Gene, N-Methylpurine-DNA Glycosylase Dduring the Development of Balb/c Mice (Balb/c 생쥐에서 DNA 회복효소인 N-Methylpurine-DNA Glycosylase(MPG)의 발생단계별 유전자 발현 조절)

  • Kim, Nam-Keun;Lee, Sook-Hwan;Kwak, In-Pyung;Han, Sei-Yul;Park, Chan;Lee, Hey-Kyung;Cha, Kwang-Eun;Cha, Kwang-Yul
    • Development and Reproduction
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    • v.1 no.1
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    • pp.37-43
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    • 1997
  • DNA 회복효소인 MPG는 DNA의 퓨린기에 결합되어 있는 메틸기 등 이물질을 염기와 함께 제거하는 작용을 한다. 본 연구에서는 노던 블롯팅 방법을 이용하여 Balb/c mice의 각 조직별로 발생단계별 mRNA 발현 정도를 조사하였다. 뇌와 콩팥조직에서는 출생직후에 발현이 가장 활발하였으며, 성체시기까지 비교적 높은 활성도가 유지되었다. 위장 조직에서는 출생직후에서 일주일 후까지는 명확히 관찰되었으나, 그 이후는 발현이 약화되었다. 간장과 폐조직에서는 그 발현 정도가 매우 약했으며, 특히, 간조직의 경우 출생 직후보다 성체에서 그 발현이 현저히 감소되었다. 이들 조직에서의 활성도는 출생후 24시간 이내에서 1주일후까지 상대적으로 높게 유지되다가 점차 감소되었다. 즉, 수유기(출생직후부터 1주일후)에는 그 활성도가 성체시기(4주에서 6개월)보다 높게 유지되었다. 이러한 결과들로 미루어 보아 늙은 생쥐가 젊고 어린 생쥐보다 alkylating mutagen들에 노출되었을대 암에 걸릴 위험성이 높다고 생각된다.

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Promoter demethylation mediates the expression of ZNF645, a novel cancer/testis gene

  • Bai, Gang;Liu, Yunqiang;Zhang, Hao;Su, Dan;Tao, Dachang;Yang, Yuan;Ma, Yongxin;Zhang, Sizhong
    • BMB Reports
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    • v.43 no.6
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    • pp.400-406
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    • 2010
  • Cancer/testis (CT) antigens exhibit highly tissue-restricted expression and are considered promising targets for cancer vaccines. Here we identified a novel CT gene ZNF645 which restrictively expresses in normal human testes and lung cancer patients (68.3%). To investigate the promoter methylation status of ZNF645, we carried out bisulfite genomic sequencing and found that the CpG island in its promoter was heavily methylated in normal lung tissues without the expression of ZNF645, whereas there was high demethylation in normal human testes and lung carcinoma tissues with its expression. Also ZNF645 could be remarkably activated in A549 and HEK293T cells treated by DNA demethylation agent 5'-aza-2'-deoxycytidine. And the dual luciferase assay revealed that the promoter activity of the ZNF645 was inhibited by methylation of the CpG island region. Therefore, we proposed that ZNF645 is a CT gene and activated in human testis and lung cancers by demethylation of its promoter region.

Overexpression of SOX15 Inhibits Proliferation of NT2/D1 Cells Derived from a Testicular Embryonal Cell Carcinoma

  • Yan, Hong-Tao;Shinka, Toshikatsu;Sato, Youichi;Yang, Xin-Jun;Chen, Gang;Sakamoto, Kozue;Kinoshita, Keigo;Aburatani, Hiroyuki;Nakahori, Yutaka
    • Molecules and Cells
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    • v.24 no.3
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    • pp.323-328
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    • 2007
  • SOX (Sry-related HMG box) family proteins, which have an evolutionarily conserved DNA binding domain, have crucial roles in cell differentiation. However, their target genes remain enigmatic. Some members of the SOX family may have roles in regulation of cell proliferation. We established stable NT2/D1 cell lines overexpressing SOX15 (SOX15-NT2/D1), and a modified 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay showed that the SOX15-NT2/D1 cells exhibited significantly slower growth than the controls. Flow cytometry analysis revealed that an increased fraction of the SOX15-NT2/D1 cells were in G1-G0. In addition, a microarray analysis identified 26 genes that were up-regulated in the SOX15-NT2/D1 cells, but none that were down-regulated genes. Among the up-regulated genes, IGFBP5, S100A4, ID2, FABP5, MTSS1, PDCD4 have been shown to be related to cell proliferation and/or the cell cycle.

Consanguinity Protecting Effect Against Breast Cancer among Tunisian Women: Analysis of BRCA1 Haplotypes

  • Medimegh, Imen;Troudi, Wafa;Omrane, Ines;Ayari, Hajer;Uhrhummer, Nancy;Majoul, Hamdi;Benayed, Farhat;Mezlini, Amel;Bignon, Yves-Jean;Sibille, Catherine;Elgaaied, Amel Benammar
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.9
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    • pp.4051-4055
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    • 2015
  • The purpose of this study is to assess the effect of consanguinity on breast cancer incidence in Tunisia. We conducted a case-control study to evaluate the involvement of heterozygote and homozygote haplotypes of BRCA1 gene SNPs according to consanguinity among 40 cases of familial breast cancer, 46 cases with sporadic breast cancer and 34 healthy controls. We showed significant difference in consanguinity rate between breast cancer patients versus healthy controls P=0.001. Distribution of homozygous BRCA1 haplotypes among healthy women versus breast cancer patients was significantly different; p=0.02. Parental consanguinity seems to protect against breast cancer in the Tunisian population.