Somatic Cell and Molecular Genetics最新文献_第9页

Genetic variation in the 3' untranslated region of the neurofibromatosis 1 gene: application to unequal allelic expression. 神经纤维瘤病1基因3'非翻译区遗传变异:应用于不平等等位基因表达。

Somatic Cell and Molecular Genetics Pub Date : 1998-03-01 DOI: 10.1023/b:scam.0000007113.28381.53

G S Cowley, A E Murthy, D M Parry, G Schneider, B Korf, M Upadhyaya, P Harper, M MacCollin, A Bernards, J F Gusella

{"title":"Genetic variation in the 3' untranslated region of the neurofibromatosis 1 gene: application to unequal allelic expression.","authors":"G S Cowley, A E Murthy, D M Parry, G Schneider, B Korf, M Upadhyaya, P Harper, M MacCollin, A Bernards, J F Gusella","doi":"10.1023/b:scam.0000007113.28381.53","DOIUrl":"https://doi.org/10.1023/b:scam.0000007113.28381.53","url":null,"abstract":"Neurofibromatosis type 1 (NF1) is a common genetic disorder caused by inactivation of neurofibromin, a protein capable of modulating signal transduction by activating Ras-GTPase activity. We have used cDNA cloning and Northern blot analysis to confirm the NF1 gene produces alternatively polyadenylated mRNAs with 3' untranslated regions (3' UTR) that show striking evolutionary conservation. Scanning of the 3'UTRs for genetic variation revealed three common sequence polymorphisms (> 30% heterozygosity), one less informative polymorphism (approximately 5% heterozygosity) and one rare variant (1/144 chromosomes). These differences were used to examine relative levels of expression of normal and mutant NF1 alleles in lymphoblast cell lines and in one case, autopsy tissue, from patients with NF1. Unequal allelic expression (up to 4-fold) was observed in a subset of both sporadic and familial NF1 cases. Where linkage phase could be determined, the allele segregating with the disorder displayed a relative reduction in expression. However, the magnitude of this effect was variable suggesting the operation of additional, non-genetic factors in determining the degree of relative expression of the mutant allele.","PeriodicalId":21884,"journal":{"name":"Somatic Cell and Molecular Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1998-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1023/b:scam.0000007113.28381.53","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20825119","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 16

Toward expression mapping of albinism-deafness syndrome (ADFN) locus on chromosome Xq26. 白化-耳聋综合征(ADFN)位点在Xq26染色体上的表达定位。

Somatic Cell and Molecular Genetics Pub Date : 1998-03-01 DOI: 10.1023/b:scam.0000007116.34356.ea

A N Jacob, G Kandpal, N Gill, R P Kandpal

{"title":"Toward expression mapping of albinism-deafness syndrome (ADFN) locus on chromosome Xq26.","authors":"A N Jacob, G Kandpal, N Gill, R P Kandpal","doi":"10.1023/b:scam.0000007116.34356.ea","DOIUrl":"https://doi.org/10.1023/b:scam.0000007116.34356.ea","url":null,"abstract":"We have employed a direct cDNA selection methodology to isolate transcribed sequences encoded in the human chromosomal interval Xq26 that contains the gene for X-chromosome linked albinism deafness syndrome (ADFN). ADFN had been previously mapped to an 8 centi Morgan region on chromosome Xq26. We have constructed six cDNA libraries specific to six YACs mapping to a 1.5 mb span at the distal boundary of the ADFN locus. The YAC specific libraries were characterized for the presence of unique cDNAs. We have identified 15 transcribed sequences from the selected cDNA libraries. These cDNAs matched to three well characterized sequences corresponding to steroid 5-alpha reductase, ribosomal protein L28, and a short transcript that has been shown to be expressed in human brain cortex. Seven of the cDNAs matched to expressed sequence tags or other sequences of unknown function, and five cDNAs shared no homology with sequences in the public data bases. Each one of these sequences was represented as 3-10 clones in the set that was subjected to sequencing. Further characterization of these transcribed sequences may indicate potential candidates responsible for ADFN. We have discussed the utility of cDNA selection methodology in assembling transcript maps and identifying potential candidates for genetic deafness.","PeriodicalId":21884,"journal":{"name":"Somatic Cell and Molecular Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1998-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1023/b:scam.0000007116.34356.ea","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20825065","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Cloning and characterization of the promoter of baboon XRCC1, a gene involved in DNA strand-break repair. 狒狒参与DNA断链修复的基因XRCC1启动子的克隆与表征。

Somatic Cell and Molecular Genetics Pub Date : 1998-01-01 DOI: 10.1007/BF02677493

Z Q Zhou, C A Walter

{"title":"Cloning and characterization of the promoter of baboon XRCC1, a gene involved in DNA strand-break repair.","authors":"Z Q Zhou, C A Walter","doi":"10.1007/BF02677493","DOIUrl":"https://doi.org/10.1007/BF02677493","url":null,"abstract":"The DNA repair gene XRCC1 was the first cloned human DNA repair gene involved in resistance to ionizing radiation. Previous studies have shown that rodent and baboon homologs of XRCC1 are expressed in all tested tissues with significantly higher levels in testis. Furthermore, expression of murine XRCC1 is most abundant in pachytene spermatocytes and round spermatids. To begin to study regulation of XRCC1 expression, the 5' region of baboon XRCC1 was cloned and characterized. 400 bp of 5'-flanking region showed the greatest promoter activity, while -194 to -8 bp of the 5'-flanking region displayed core promoter activity in transient transfection assays. A comparison between baboon and human 5'-flanking sequences in the core promoter region revealed a potential CAAT-box, an imperfect CREB-binding site and two putative Sp1-binding sites. Results from transient transfection assays in which each putative binding site was individually mutated, indicated that the distal Sp1-binding site has a functional role in transcription. In comparison, both putative Sp1-binding sites bound protein(s) from HeLa cell nuclear extracts in vitro. In vitro binding was lost when mutated Sp1 sites were used in gel mobility shift assays. Finally, anti-Sp1 antibodies produced mobility supershifts, thereby indicating Sp1 or an Sp1-like protein bound to the DNA fragment in vitro.","PeriodicalId":21884,"journal":{"name":"Somatic Cell and Molecular Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF02677493","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20689520","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 9

Construction and characterization of single-transcript tricistronic retroviral vectors using two internal ribosome entry sites. 利用两个内部核糖体进入位点构建和表征单转录三反转录病毒载体。

Somatic Cell and Molecular Genetics Pub Date : 1998-01-01 DOI: 10.1007/BF02677495

M Z Metz, A Pichler, K Kuchler, S E Kane

{"title":"Construction and characterization of single-transcript tricistronic retroviral vectors using two internal ribosome entry sites.","authors":"M Z Metz, A Pichler, K Kuchler, S E Kane","doi":"10.1007/BF02677495","DOIUrl":"https://doi.org/10.1007/BF02677495","url":null,"abstract":"We describe a series of retroviral vectors containing two internal ribosome entry sites (IRES) for the co-transcription of three genes. Transcription of the single-transcript tricistronic mRNA is under the control of a Harvey murine sarcoma virus long terminal repeat. The 5'-most open reading frame is under either cap-dependent or cap-independent translational control, while the two downstream open reading frames are translated in a cap-independent fashion using the initiation codons of their respective IRES elements. Both IRES elements are taken from the encephalomyocarditis virus. To characterize these vectors, we used the human multidrug resistance gene (MDR1) in the 5' position, the gene for green fluorescent protein (GFP) in the middle position, and neo in the 3' position. The vectors were either transfected directly into NIH3T3 mouse fibroblasts or packaged into retrovirus and then transduced into NIH3T3 cells. Gene transfer was followed by selection with colchicine, which selects for expression of the MDR1 gene, or with G418, which selects for expression of the neo gene. Thus, we could determine the function of the tricistronic vectors under conditions of selection for either the 5'-most or the 3'-most gene. In DNA-mediated transfections, we were able to achieve expression of all three open reading frames under either selection condition. We obtained higher expression of all three genes when colchicine was used to select for MDR1 expression than when G418 was used to select for neo expression. Expression of the non-selected GFP gene (the middle cistron) was unstable, most likely due to loss of integrated GFP DNA sequences during long-term culturing. We were able to achieve retrovirus-mediated transduction of all three genes, but this was an inefficient process.","PeriodicalId":21884,"journal":{"name":"Somatic Cell and Molecular Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF02677495","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20689521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 17

Recombination hotspot activity of hypervariable minisatellite DNA requires minisatellite DNA binding proteins. 超变异小卫星DNA的重组热点活性需要小卫星DNA结合蛋白。

Somatic Cell and Molecular Genetics Pub Date : 1998-01-01 DOI: 10.1007/BF02677494

W P Wahls, P D Moore

引用次数: 0

A panel of partial chromosome paints and YAC probes specific for human chromosome 2. 一组人类2号染色体专用的部分染色体颜料和YAC探针。

Somatic Cell and Molecular Genetics Pub Date : 1998-01-01 DOI: 10.1007/BF02677492

L Viggiano, R Marzella, A S Ricco, T C Storlazzi, A Fratello, M Varella-Garcia, N Archidiacono, M Rocchi

引用次数: 4

Sixth International Congress on Amino Acids University of Bonn, Germany August 3–7, 1999 第六届国际氨基酸大会，波恩大学，德国，1999年8月3-7日

Somatic Cell and Molecular Genetics Pub Date : 1998-01-01 DOI: 10.1023/B:SCAM.0000007393.17197.1d

引用次数: 0

Mutation measurement in mammalian cells. IV: Comparison of gamma-ray and chemical mutagenesis. 哺乳动物细胞的突变测量。四:射线诱变与化学诱变的比较。

Somatic Cell and Molecular Genetics Pub Date : 1998-01-01 DOI: 10.1007/BF02677491

T T Puck, R Johnson, P Webb, G Yohrling

{"title":"Mutation measurement in mammalian cells. IV: Comparison of gamma-ray and chemical mutagenesis.","authors":"T T Puck, R Johnson, P Webb, G Yohrling","doi":"10.1007/BF02677491","DOIUrl":"https://doi.org/10.1007/BF02677491","url":null,"abstract":"The interaction of chemical mutagens with mammalian cells is much more complex than that of gamma-irradiation because of the different ways in which chemical agents react with cell and medium components. Nevertheless, the system previously described for analysis of mutagenesis by gamma-radiation appears applicable to chemical mutagenesis. The approach involves measurement of cell survival, use of caffeine to inhibit repair, analysis of mitotic index changes, and quantitation of microscopically visible structural changes in mitotic chromosomes. The behavior of a variety of chemical mutagens and nonmutagens in this system is described and compared with that of gamma-irradiation. The procedure is simple and the results reasonably quantitative though less so than those of gamma-irradiation. The procedure can be used for environmental monitoring, analysis of mutational events, and individual and epidemiological testing. Mutational events should be classified as primary or secondary depending on whether they represent initial genomic insult, or genomic changes resulting from primary mutation followed by structural changes due to metabolic actions. While caffeine has multiple effects on the mammalian genome, when used under the conditions specified here it appears to act principally as an inhibitor of mutation repair, and so affords a measure of the role of repair in the action of different mutagens on cells in the G2 phase of the life cycle.","PeriodicalId":21884,"journal":{"name":"Somatic Cell and Molecular Genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF02677491","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20689518","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 8

Localization of PiUS, a stimulator of cellular phosphate uptake to human chromosome 3p21.3. 人类染色体3p21.3细胞磷酸摄取刺激物PiUS的定位。

Somatic Cell and Molecular Genetics Pub Date : 1998-01-01 DOI: 10.1007/BF02677496

K E White, M J Econs

引用次数: 4

The fidelity of double strand breaks processing is impaired in complementation groups B and D of Fanconi anemia, a genetic instability syndrome. Fanconi贫血(一种遗传不稳定综合征)的补体B组和D组双链断裂加工的保真度受损。

Somatic Cell and Molecular Genetics Pub Date : 1997-11-01 DOI: 10.1007/BF02673750

M Escarceller, S Rousset, E Moustacchi, D Papadopoulo

引用次数: 46