Cytogenetics and cell genetics最新文献

Spectral karyotyping of the human colon cancer cell lines SW480 and SW620. 人结肠癌细胞系SW480和SW620的光谱核型分析。

Cytogenetics and cell genetics Pub Date : 2000-04-01 DOI: 10.1016/S0016-5085(00)82310-0

R. Melcher, H. Luehrs, C. Steinlein, W. Feichtinger, C. Mueller, Michael Schmid, Wolfgang Scheppach, T. Menzel

引用次数: 24

No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD). 原发性纤毛运动障碍(PCD)患者FOXJ1(别名hhh -4)基因无有害突变。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015645

A K Maiti, L Bartoloni, H M Mitchison, M Meeks, E Chung, S Spiden, C Gehrig, C Rossier, C D DeLozier-Blanchet, J Blouin, R M Gardiner, S E Antonarakis

{"title":"No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD).","authors":"A K Maiti, L Bartoloni, H M Mitchison, M Meeks, E Chung, S Spiden, C Gehrig, C Rossier, C D DeLozier-Blanchet, J Blouin, R M Gardiner, S E Antonarakis","doi":"10.1159/000015645","DOIUrl":"https://doi.org/10.1159/000015645","url":null,"abstract":"The transcription factor FOXJ1 (alias HFH-4 or FKHL13) of the winged-helix/forkhead family is expressed in cells with cilia or flagella, and seems to be involved in the regulation of axonemal structural proteins. The knockout mouse Foxj1(-/-) shows abnormalities of organ situs, consistent with random determination of left-right asymmetry, and a complete absence of cilia. The human FOXJ1 gene which maps to chromosome 17q, is thus an excellent candidate gene for Kartagener Syndrome (KS), a subphenotype of Primary Ciliary Dyskinesia (PCD), characterized by bronchiectasis, chronic sinusitis and situs inversus. We have collected samples from 61 PCD families, in 31 of which there are at least two affected individuals. Two families with complete aciliogenesis, and six families, in which the affected members have microsatellite alleles concordant for a locus on distal chromosome 17q, were screened for mutations in the two exons and intron-exon junctions of the FOXJ1 gene. No sequence abnormalities were observed in the DNAs of the affected individuals of the selected families. These results demonstrate that the FOXJ1 gene is not responsible for the PCD/KS phenotype in the families examined.","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015645","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21886951","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: 35

Assignment of transcription factor NFAT5 to human chromosome 16q22.1, murine chromosome 8D and porcine chromosome 6p1.4 and comparison of the polyglutamine domains. 转录因子NFAT5在人染色体16q22.1、鼠染色体8D和猪染色体6p1.4上的定位及多聚谷氨酰胺结构域的比较

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015665

A Hebinck, A Dalski, H Engel, M Mattei, R Hawken, E Schwinger, C Zühlke

引用次数: 9

Detection of chromosomal imbalances in leiomyosarcoma by comparative genomic hybridization and interphase cytogenetics. 通过比较基因组杂交和间期细胞遗传学检测平滑肌肉瘤的染色体失衡。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015640

M Otaño-Joos, G Mechtersheimer, S Ohl, K K Wilgenbus, W Scheurlen, T Lehnert, F Willeke, H F Otto, P Lichter, S Joos

{"title":"Detection of chromosomal imbalances in leiomyosarcoma by comparative genomic hybridization and interphase cytogenetics.","authors":"M Otaño-Joos, G Mechtersheimer, S Ohl, K K Wilgenbus, W Scheurlen, T Lehnert, F Willeke, H F Otto, P Lichter, S Joos","doi":"10.1159/000015640","DOIUrl":"https://doi.org/10.1159/000015640","url":null,"abstract":"Leiomyosarcomas comprise a group of malignant soft-tissue tumors with smooth-muscle differentiation. In this study, 14 cases of leiomyosarcoma were screened for changes in relative chromosome copy number by comparative genomic hybridization. A high number of imbalances (mean, 16.3; range, 6-26) was detected, with chromosomal gains occurring about twice as much as losses. The most frequent gains were found in 5p15, 8q24, 15q25-->q26, 17p, and Xp (43% to 50%), whereas the most frequent losses were found in 10q and 13q (50% and 78%, respectively). Twenty high-level amplifications affecting 15 different chromosomal subregions were detected in nine different tumors. In three leiomyosarcomas, sequences on chromosome arm 17p were found to be highly amplified, with a minimal overlapping region on subbands 17p12-->p11. We further discovered that the Smith-Magenis syndrome critical region on 17p11.2 is included in the 17p amplicons of two leiomyosarcoma cases. Using probes flanking this genetically unstable region, a mean of 14 and 22 signals per nucleus, respectively, was detected in both leiomyosarcomas by fluorescence in situ hybridization. In conclusion, this analysis identifies a number of characteristic chromosomal imbalances in leiomyosarcomas and provides evidence for the localization of potential oncogenes and tumor suppressor genes active in leiomyosarcoma genomes.","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015640","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21887675","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: 0

Isolation and characterization of a new FHL1 variant (FHL1C) from porcine skeletal muscle. 猪骨骼肌FHL1新变体(FHL1C)的分离和鉴定

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015643

A Krempler, S Kollers, R Fries, B Brenig

{"title":"Isolation and characterization of a new FHL1 variant (FHL1C) from porcine skeletal muscle.","authors":"A Krempler, S Kollers, R Fries, B Brenig","doi":"10.1159/000015643","DOIUrl":"https://doi.org/10.1159/000015643","url":null,"abstract":"Four and a half LIM domain protein 1 (FHL1) was initially described as an abundant skeletal muscle protein with four LIM domains and a GATA like zinc finger. FHL1 was shown to be expressed in skeletal muscle as well as in a variety of other tissues. Recently, alternatively spliced FHL1 mRNAs were identified coding for C-terminal truncated proteins. The tissue distribution of these variants is more restricted and their functional properties seem to be different. We have isolated and characterized a new variant of FHL1 from porcine skeletal muscle (FHL1C). FHL1C is characterized by a newly identified start codon resulting in a 16 amino acids longer N- terminal region. We have isolated and characterized the porcine FHL1C gene spanning approximately 14 kb and harboring six exons. Using primer extension analysis, the transcription start site of FHL1C was mapped, indicating that FHL1C is regulated by an alternative promoter. The tissue distribution of FHL1C expression was studied by RT-PCR. The porcine FHL1C gene was assigned to the distal part of the long arm of the X chromosome by fluorescence in situ hybridization and screening of a somatic porcine/rodent cell hybrid panel.","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015643","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21887678","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: 10

Assignment of maltase glucoamylase (MGAM) to pig chromosome 2 (2q21) by fluorescence in situ hybridization and confirmation by genetic mapping. 猪2号染色体(2q21)上麦芽糖淀粉酶(MGAM)的荧光原位杂交和遗传作图鉴定。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000056777

J H Calvo, N L Lopez-Corrales, R Osta, T M Skinner, S I Anderson, C Rodellar, P Zaragoza, A L Archibald

引用次数: 3

Cloning of the novel gene TM6SF1 reveals conservation of clusters of paralogous genes between human chromosomes 15q24-->q26 and 19p13.3-->p12. 新基因TM6SF1的克隆揭示了人类染色体15q24- >q26和19p13.3- >p12之间同源基因簇的保守性。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000056784

L Carim-Todd, M Escarceller, X Estivill, L Sumoy

引用次数: 33

Spectral karyotyping of mouse cell line WMP2. 小鼠WMP2细胞系的光谱核型分析。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000056787

G Liu, W Lu, S Bremer, H Hameister, B Schreiner, M Hughes, H H Heng