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T(11;18)(q21;q21)-positive gastrointestinal MALT lymphomas are heterogeneous with respect to the V_H gene mutation status

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World Journal of Gastrointestinal Oncology 2011年第2期3卷 24-32页

作者： Xavier Sagaert Vera Vanhentenrijk Gert De Hertogh Karel Geboes Thomas Tousseyn Brigitte Maes Mathijs Baens Eric Van Cutsem department of Morphology and Molecular pathology University Hospitals Leuven department of Morphology and Molecular pathology University Hospitals Leuven department of laboratory medicine Jessa Hospital department for Molecular and Developmental genetics Flanders Institute for Biotechnology (VIB) department of human genetics Catholic University of Leuven department of Digestive Oncology University Hospitals Leuven

AIM: To investigate how t(11;18)(q21;q21)-positive gastrointestinal MALT lymphomas relate to other marginal zone lymphomas with respect to the somatic mutation pattern of the VH genes and the expression of the marker CD27. METHODS: The VH gene of 7 t(11;18)(q21;q21)-positive gastrointestinal MALT lymphomas was amplif iedby PCR using family specif ic VH primers and a consensus JH primer. PCR products were sequenced and mutation analysis of the CDR and the FR regions was performed. All cases were immunostained for CD27. RESULTS: One case showed unmutated VH genes while the others showed mutated VH genes with mutation frequencies ranging from 1.3 to 14.7% and with evidence of antigen selection in 2 cases. These data suggest that the translocation t(11;18)(q21;q21) can target either B-cells at different stages of differentiation or naive B-cells that retain the capacity to differentiate upon antigen stimulation. All cases but one displayed weak to strong CD27 expression which did not correlate with the VH gene mutation status. CONCLUSION: t(11;18)(q21;q21)-positive gastro- intestinal MALT lymphomas are heterogeneous with respect to the VH mutation status and CD27 is not a marker of somatically mutated B-cells.

关键词： Gastrointestinal MALT lymphoma t(11 18) (q21 q21) VH mutation Marginal zone CD27

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FHA domain of AGGF1 is essential for its nucleocytoplasmic transport and angiogenesis

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Science China(Life Sciences) 2021年第11期64卷 1884-1894页

作者： Cui-Fang Zhang Han-Ming Wang Andong Wu Yang Li Xiao-Li Tian department of human Population genetics Institute of Molecular MedicinePeking UniversityBeijing 100871China Aging and Vascular Diseases Human Aging Research Institute and School of Life ScienceNanchang Universityand Jiangxi Key Laboratory of Human AgingNanchang 330031China

Angiogenic factor with G-patch and FHA domains 1(AGGF1) exhibits a dynamic distribution from the nucleus to the cytoplasm in endothelial cells during angiogenesis, but the biological significance and underlying mechanism of this nucleocytoplasmic transport remains unknown. Here, we demonstrate that the dynamic distribution is essential for AGGF1 to execute its angiogenic function. To search the structural bases for this nucleocytoplasmic transport, we characterized three potential nuclear localization regions, one potential nuclear export region, forkhead-associated(FHA), and G-patch domains to determine their effects on nucleocytoplasmic transport and angiogenesis, and we show that AGGF1 remains intact during the dynamic subcellular distribution and the region from 260 to 288 amino acids acts as a signal for its nuclear localization. The distribution of AGGF1 in cytoplasm needs both FHA domain and 14-3-3α/β. Binding of AGGF1 via FHA domain to 14-3-3α/β is required to complete the transport. Thus, we for the first time established structural bases for the nucleocytoplasmic transport of AGGF1 and revealed that the FHA domain of AGGF1 is essential for its nucleocytoplasmic transport and angiogenesis.

关键词： AGGF1 nucleocytoplasmic transport angiogenesis FHA domain 14-3-3α/β

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Novel MLH1 frameshift mutation in an extended hereditary nonpolyposis colorectal cancer family

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World Journal of Gastroenterology 2006年第48期12卷 7848-7851页

作者： Tanya Kirilova Kadiyska Radka Petrova Kaneva Dimitar Georgiev Nedin Alexandrina Borisova Alexandrova Antonina Todorova Gegova Stoyan Ganchev Lalchev Tatyana Christova Vanio Ivanov Mitev Juergen Horst Nadja Bogdanova Ivo Marinov Kremensky laboratory of Molecular pathology University Hospital of Obstetrics and Gynecology Bulgaria Clinic of Abdominal Surgery Queen Giovanna Hospital Bulgaria department of pathology Queen Giovanna Hospital Bulgaria department of Medical genetics Medical University Bulgaria department of Chemistry and Biochemistry Medical University Bulgaria institute of human genetics University of Munster Germany

AIM： To present novel frameshift mutation c.31delC [p.L11X] in the MLH1 gene identified in an extended Bulgarian hereditary non-polyposis colorectal cancer （HNPCC） family and to analyze the molecular and clinical findings within the pedigree concerning the proposal of adequate individual prophylactic strategy for all mutation carriers.METHODS： The pedigree of the family consists of 42 members in four generations. Search for mutations in the MLH1 and hMSH2 genes was performed in the proband. After PCR amplification of all exons including flanking intronic regions, amplicons were directly sequenced.RESULTS： The mutation was found in nine from the thirteen pedigree members who signed informed consent to participate in the study. In three adenocarcinomas, microsatellite instability and lack of the MLH1 protein expression were detected. The only one tubulovillous adenoma analyzed was microsatellite stable and the MLH1 protein showed an intact staining.CONCLUSION： The newly described mutation c.31delC is HNPCC causative. Besides the typical clinical features of the syndrome, we found a specific pathologic manifestation such as moderate to high differentiated adenocarcinomas of the colon. One of the mutation carriers developed a benign giant cell soft tissue tumor, The primary tumor Iocalizatlons were frequently extracolonic and detailed yearly gastrointestinal and gynecological examinations have been proposed to the mutation carriers. We emphasize the importance of including the HNPCC genetic counseling and testing as well in the following surveillance of all patients at risk in the services covered by the health insurance in Bulgaria.

关键词： Colon cancer Hereditary non-polyposiscolorectal cancer MLH1 Microsatellite instability

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hsa-mir-183 is frequently methylated and related to poor survival in human hepatocellular carcinoma

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World Journal of Gastroenterology 2017年第9期23卷 1568-1575页

作者： Sumadi Lukman Anwar Till Krech Britta Hasemeier Elisa Schipper Nora Schweitzer Arndt Vogel Hans Kreipe Reena Buurman Britta Skawran Ulrich Lehmann Ulrich Lehmann Institute of PathologyMedizinische Hochschule Hannover department of Surgery Faculty of Medicine Universitas Gadjah Mada department of Gastroenterology Hepatology and EndocrinologyMedizinische Hochschule Hannover institute of human genetics Medizinische Hochschule Hannover

To screen clinically relevant microRNAs (miRNAs) silenced by DNA methylation in human hepatocellular carcinoma (HCC).METHODSKnockdown of DNA methyltransferases (DNMTs) using siRNAs and miRNA profiling in HCC cell lines were performed to identify DNA hypermethylation-mediated miRNA downregulation. Confirmation using individual quantitative real-time PCR (qRT-PCR) assays was then performed followed by DNA methylation quantification at the promoter of the miRNA genes. Quantification of DNA methylation and miRNA expression was then performed in primary HCC tumor samples and related with clinicopathological *** profiling after DNMT knockdown in HCC cell lines revealed upregulation of miR-23, miR-25 and miR-183. After qRT-PCR confirmation and CpG island methylation quantification of these miRNAs in cell lines, further analysis in primary HCC specimens showed that hsa-miR-183 is hypermethylated in 30% of HCC (n = 40). Expression of mature miR-183 showed an inverse correlation with DNA methylation levels. In HCC cells, DNMT knockdown and 5-aza-2’-deoxycytidine treatment reduced methylation and stimulated expression of miR-183. In HCC patients, hypermethylation at hsa-miR-183 promoter significantly correlates with poor survival (log-rank test P = 0.03). DNA methylation analysis in healthy liver, benign liver tumors (hepatocellular adenoma and focal nodular hyperplasia) and their corresponding adjacent tissues showed absence of hypermethylation supporting the notion that aberrant methylation at hsa-miR-183 is specific for the malignant transformation of *** data indicate that hypermethylation of hsa-miR-183 is a frequent event in HCC and potentially useful as a novel surrogate diagnostic and prognostic marker.

关键词： hsa-miR-183 DNA methylation DNMT knockdown microRNA microarray

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Investigation of HER-2 codon 655 single nucleotide polymorphism frequency and c-ErbB-2 protein expression alterations in gastric cancer patients

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World Journal of Gastroenterology 2006年第20期12卷 3283-3287页

作者： N Lale Satiroglu-Tufan Ferda Bir Nese Calli-Demirkan department of Medical Biology Center for Genetic Diagnosis Molecular Genetics LaboratoryPamukkale University School of MedicineDenizliTurkey department of pathology Pamukkale University School of medicine DenizliTurkey

AIM： To investigate both whether the risk of gastric cancer is associated with the Ile/Val single nucleotide polymorphism （SNP） of human epidermal growth factor receptor-2 （HER-2） transmembrane domain-coding region at codon 655 and the suggested existence of HER-2 expression in gastric cancer cases in a Turkish patient group. METHODS： Polymerase chain reaction （PCR） followed by restriction fragment length polymorphism （RFLP） strategy was used to analyze the presence of HER-2 SNP at codon 655. c-erbB-2 expression pattern was analyzed by immunohistochemistry. The results were compared between gastric carcinoma group and chronic gastritis group, as well as between clinicopathological parameters and carcinoma. RESULTS： Results showed that Ile/Val genotype accounted for 20% within the Turkish gastric carcinoma group, and none in chronic gastritis group, and this genotyping was associated with stage Ⅳ gastric cancers （P = 0.04）. Positive membranous HER-2 immunoreactivity, on the other hand, accounted for 24% within the Turkish gastric carcinoma group and none from chronic gastritis cases; further, it was correlated with intestinal type carcinomas （P = 0.007）, and stage Ⅲ-Ⅳ carcinomas （P = 0.004）. CONCLUSION： These observations imply that the tested HER-2 SNP may participate in the development and progression of gastric cancer. Thus, after confirming these results with large sample groups, HER-2 codon 655 SNP and/or c-erbB-2 overexpression may also be used as a poor prognostic indicator for gastric carcinomas.

关键词： Gastric carcinoma HER-2 c-erbB-2 Single nucleotide polymorphism Immunohistochemistry

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Genetic factors of reproductive disorders in female

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Reproductive and Developmental medicine 2024年第3期8卷 186-195页

作者： Inna I.Mordovina Alina K.Chebanu Maksim Y.Donnikov Tatiana A.Sinyukova Lyudmila V.Kovalenko Larisa D.Belotserkovtseva department of Obstetrics Gynecologyand PerinatologyMedical Institute of Surgut State UniversitySurgutRussian Federation Scientific and Educational Center Medical Institute of Surgut State UniversitySurgutRussian Federation department of Pathophysiology and General pathology Director of the Medical InstituteSurgut State UniversitySurgutRussian Federation Surgut Regional Clinical Center for Maternity and Childhood Protection SurgutRussian Federation

Successful reproduction in mammals requires gamete development,fertilization,and early embryonic *** in any of these processes can lead to infertility,recurrent miscarriages,and congenital *** clinical recognition of the genetic causes of female reproductive insufficiency using increasingly advanced genetic technologies poses a serious challenge for reproductive medicine in the 21st ***,the current literature on genetic factors involved in reproductive losses was summarized.A literature search was conducted using Web of Science,MEDLINE,and PubMed databases for articles written in English on the genetic causes of women’s reproductive health *** implementation of whole-exome and wholegenome sequencing is expected to identify numerous genetic factors responsible for oocyte *** will aid in increasing the likelihood of successful female reproductive function,improve the outcomes of assisted reproductive technologies,optimize treatment,and facilitate genetic diagnosis of patients.

关键词： genetics Infertility Reproductive disorders Premature ovarian insufficiency

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Gastric mucosa-associated lymphoid tissue lymphomas and Helicobacter pylori infection:A Colombian perspective

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World Journal of Gastroenterology 2012年第7期18卷 685-691页

作者： Sally Yepes Maria Mercedes Torres Carlos Saavedra Rafael Andrade institute of genetics Universidad Nacional de Colombia14490 Bogotá DCColombia department of pathology Fundación Santa Fe de Bogotá220246 Bogotá DCColombia human genetics laboratory Universidad de los Andes4976 Bogotá DCColombia Faculty of medicine Universidad Nacional de Colombia14490 Bogotá DCColombia

AIM： To assess the significance of chromosome translo- cation t（11;18）（q21;q21）, B-cell lymphoma 10 （BCL-10） protein and He/icobacter py/ori （H. py/on） infection in gastric mucosa-associated lymphoid tissue ... 详细信息

关键词： Mucosa-associated lymphoid tissue lympho-ma Helicobacter pylori Treatment t(11 18)(q21 q21 ) B-cell lymphoma 10

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14-3-3 proteins—an update

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Cell Research 2005年第4期15卷 228-236页

作者： Paulette MHAWECH Elm and Carlton Streets . Buffalo department of pathology and laboratory medicine at Roswell Park Cancer institute NewYork14263 USA

14-3-3 is a highly conserved acidic protein family, composed of seven isoforms in mammals. 14-3-3 protein caninteract with over 200 target proteins by phosphoserine-dependent and phosphoserine-independent manners. Little isknown about the consequences of these interactions, and thus are the subjects of ongoing studies. 14-3-3 controls cellcycle, cell growth, differentiation, survival, apoptosis, migration and spreading. Recent studies have revealed newmechanisms and new functions of 14-3-3, giving us more insights on this fascinating and complex family of *** all the seven isoforms, 14-3-3σ seems to be directly involved in human cancer. 14-3-3σ itself is subject to regulationby p53 upon DNA damage and by epigenetic deregulation. Gene silencing of 14-3-3σ by CpG methylation has beenfound in many human cancer types. This suggests that therapy-targeting 14-3-3σ may be beneficial for future cancertreatment.

关键词： 14-3-3 function 14-3-3σ CpG methylation target therapy.

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Toward genetic transformation of mitochondria in mammalian cells using a recoded drug-resistant selection marker

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Journal of genetics and Genomics 2011年第4期38卷 173-179页

作者： Young Geol Yoon Michael Duane Koob Mitochondria Hub Regulation Center and department of Anatomy and Cell Biology Dong-A University College of Medicine 3-1 Dongdaesin-dongSeo-gu Busan 602-714 Republic of Korea department of laboratory medicine and pathology and institute of human genetics University of Minnesota Medical School 420 Delaware St. S.E.Minneapolis MN 55455 USA

Due to technical difficulties,the genetic transformation of mitochondria in mammalian cells is still a *** this report,we described our attempts to transform mammalian mitochondria with an engineered mitochondrial genome based on selection using a drug resistance *** the standard drug-resistant neomycin phosphotransferase confers resistance to high concentrations of G418 when targeted to the mitochondria,we generated a recoded neomycin resistance gene that uses the mammalian mitochondrial genetic code to direct the synthesis of this protein in the mitochondria,but not in the nucleus（mitochondrial version）.We also generated a universal version of the recoded neomycin resistance gene that allows synthesis of the drug-resistant proteins both in the mitochondria and *** we transfected these recoded neomycin resistance genes that were incorporated into the mouse mitochondrial genome clones into mouse tissue culture cells by electroporation,no DNA constructs were delivered into the *** found that the universal version of the recoded neomycin resistance gene was expressed in the nucleus and thus conferred drug resistance to G418 selection,while the synthetic mitochondrial version of the gene produced no background drug-resistant cells from nuclear *** recoded synthetic drug-resistant genes could be a useful tool for selecting mitochondrial genetic transformants as a precise technology for mitochondrial transformation is developed.

关键词： Mitochondrial codon Recode Mitochondrial transformation Selection marker G418 Neo^R

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Dysregulation of mTOR activity through LKB1 inactivation

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Chinese Journal of Cancer 2013年第8期32卷 427-433页

作者： Wei Zhou Adam I. M arcus Paula M. Vertino The Winship Cancer institute Emory University School of Medicine department of Hematology and Oncology Emory University School of Medicine department of pathology and laboratory medicine Emory University School of Medicine department of Radiation Oncology Emory University School of Medicine

Mammalian target of rapamycin (mTOR) is aberrantly activated in many cancer types, and two rapamycin derivatives are currently approved by the Food and Drug Administration (FDA) of the United States for treating renal cell carcinoma. Mechanistically, mTOR is hyperactivated in human cancers either due to the genetic activation of its upstream activating signaling pathways or the genetic inactivation of its negative regulators. The tumor suppressor liver kinase B1 (LKB1), also known as serine/threonine kinase 11 (STK11), is involved in cell polarity, cell detachment and adhesion, tumor metastasis, and energetic stress response. A key role of LKB1 is to negatively regulate the activity of mTOR complex 1 (mTORC1). This review summarizes the molecular basis of this negative interaction and recent research progress in this area.

关键词： mTOR 基因激活丝氨酸苏氨酸激酶失活失调活性信号转导通路雷帕霉素

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