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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。
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
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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。
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

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.

翼状螺旋/叉头家族的转录因子FOXJ1(别名hhh -4或FKHL13)在有纤毛或鞭毛的细胞中表达,似乎参与轴突结构蛋白的调控。敲除小鼠Foxj1(-/-)显示器官位置异常,与随机确定的左右不对称一致,完全没有纤毛。人类FOXJ1基因位于染色体17q上,因此是Kartagener综合征(KS)的一个极好的候选基因,KS是原发性纤毛运动障碍(PCD)的一种亚表型,以支气管扩张、慢性鼻窦炎和鼻窦反位为特征。我们从61个PCD家庭收集了样本,其中31个家庭至少有两名患者。筛选FOXJ1基因的两个外显子和内含子-外显子连接突变的两个完全毛囊发生家族和6个受影响成员在远端染色体17q上具有微卫星等位基因一致性的家族。在所选家庭的受影响个体的dna中未观察到序列异常。这些结果表明FOXJ1基因与PCD/KS表型无关。
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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
Pub Date : 2000-01-01 DOI: 10.1159/000015665
A Hebinck, A Dalski, H Engel, M Mattei, R Hawken, E Schwinger, C Zühlke

To date, transcription factors of the NFAT family (nuclear factors of activated T cells) have been described for mouse and man. Recently, we mapped the human NFAT5 gene to chromosome 16 by PCR using DNA from hybrid cell lines. Here we report the exact position of the human gene between D16S496 and WI5254 within the 16q22.1 subband, the localization of the murine gene at chromosome 8D, and the identification and mapping of the porcine counterpart to chromosome 6p1.4.

迄今为止,NFAT家族的转录因子(活化T细胞的核因子)已被描述为小鼠和人。最近,我们利用杂交细胞系的DNA,通过PCR将人类NFAT5基因定位到16号染色体上。本文报道了人类基因D16S496和WI5254在16q22.1亚带中的确切位置,小鼠基因在8D染色体上的定位,以及猪基因在6p1.4染色体上的对应体的鉴定和定位。
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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。
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

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.

平滑肌肉瘤包括一组具有平滑肌分化的恶性软组织肿瘤。本研究采用比较基因组杂交技术对14例平滑肌肉瘤的相对染色体拷贝数变化进行了筛选。大量的不平衡(平均16.3;范围,6-26),染色体获得发生大约是损失的两倍。最常见的增益出现在5p15、8q24、15q25- >q26、17p和Xp(43%至50%),而最常见的损失出现在10q和13q(分别为50%和78%)。在9种不同的肿瘤中检测到影响15个不同染色体亚区的20个高水平扩增。在3例平滑肌肉瘤中,发现染色体臂17p上的序列高度扩增,17p12- >p11亚带上有极小的重叠区域。我们进一步发现,Smith-Magenis综合征17p11.2的关键区域包含在两个平滑肌肉瘤病例的17p扩增子中。在这一基因不稳定区域两侧使用探针,通过荧光原位杂交在两种平滑肌肉瘤中分别检测到平均每个细胞核14和22个信号。总之,该分析确定了平滑肌肉瘤中一些特征性的染色体失衡,并为平滑肌肉瘤基因组中潜在的致癌基因和肿瘤抑制基因的定位提供了证据。
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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
Pub Date : 2000-01-01 DOI: 10.1159/000015643
A Krempler, S Kollers, R Fries, B Brenig

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.

四个半LIM结构域蛋白1 (FHL1)最初被描述为一个丰富的骨骼肌蛋白,具有四个LIM结构域和一个锌指状的GATA。FHL1在骨骼肌和其他多种组织中表达。最近,选择性剪接的FHL1 mrna被鉴定为编码c端截断蛋白。这些变异的组织分布受到限制,其功能特性似乎有所不同。我们从猪骨骼肌中分离并鉴定了一种新的FHL1变异(FHL1C)。FHL1C的特征是一个新发现的起始密码子导致一个16个氨基酸长的N端区域。我们已经分离并鉴定了猪FHL1C基因,该基因长约14kb,包含6个外显子。通过引物延伸分析,绘制了FHL1C的转录起始位点,表明FHL1C受一个替代启动子调控。采用RT-PCR方法研究FHL1C的组织表达分布。通过荧光原位杂交和猪/鼠体细胞杂交面板筛选,将猪FHL1C基因定位到X染色体长臂远端。
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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。
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
Maltase glucoamylase, one of the major constituents of the intestinal microvillar membrane (Norén et al., 1986), together with sucrase-isomaltase, has a role in the final digestion of starch. It has been hypothesized that human maltase glucoamylase activity serves as an alternative pathway for starch digestion when lumenal alpha-amylase activity is reduced as a result of immaturity or malnutrition and that maltase glucoamylase plays a unique role in the digestion of malted dietary oligosaccharides (Nichols et al., 1998). The human MGAM gene has been cloned, sequenced and located to chromosome 7 (HSA7) (Nichols et al., 1998), but as yet, the porcine MGAM gene has not been mapped. We report the localization of the porcine MGAM gene to porcine (SSC) chromosome 2 by fluorescent in situ hybridization and linkage analysis. This assignment represents the first evidence of homology between SCC2 and HSA7.
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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。
Pub Date : 2000-01-01 DOI: 10.1159/000056784
L Carim-Todd, M Escarceller, X Estivill, L Sumoy

As the result of the EUROIMAGE Consortium sequencing project, we have isolated and characterized a novel gene on chromosome 15, TM6SF1. It encodes a 370 amino acid product with enhanced expression in spleen, testis and peripheral blood leukocytes. We have identified another gene, paralogous to TM6SF1 on chromosome 19p12, TM6SF2, with an overall similarity of 68% and 52% identity at the protein level. This conservation has led us to uncover a series of eleven genes in 19p13.3-->p12 with close homology to genes in 15q24--> q26. The percentage of sequence similarity between each paralogous pair of genes at the protein level ranges between 43 and 89%. A partial conservation of synteny with mouse chromosomes 7, 8 and 9 is also observed. The corresponding orthologous genes in mouse of human TM6SF1 and TM6SF2 show a high degree of amino acid sequence conservation.

作为EUROIMAGE联盟测序项目的结果,我们在15号染色体上分离并鉴定了一个新基因TM6SF1。它编码一种370个氨基酸的产物,在脾脏、睾丸和外周血白细胞中表达增强。我们在19p12染色体上发现了另一个与TM6SF1相似的基因TM6SF2,在蛋白质水平上的总体相似性为68%,同源性为52%。这种保守性使我们发现了位于19p13.3- >p12的一系列11个基因与位于15q24- > q26的基因具有密切的同源性。在蛋白质水平上,每一对同源基因之间的序列相似性百分比在43 - 89%之间。与小鼠染色体7,8和9的部分同源性也被观察到。人TM6SF1和TM6SF2在小鼠中对应的同源基因表现出高度的氨基酸序列保守性。
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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。
Pub Date : 2000-01-01 DOI: 10.1159/000056787
G Liu, W Lu, S Bremer, H Hameister, B Schreiner, M Hughes, H H Heng

We have evaluated the mouse cell line WMP2 using both GTG-banding analysis and spectral karyotyping to verify the reliability of using this established cell line derived from WMP/WMP mice. The WMP cell lines contain easily identifiable metacentric fusion chromosomes and are used extensively for gene mapping. Because of karyotypical changes in the WMP1 cell line, WMP2 was examined. Our results demonstrate that WMP2 is stable during culture, and the karyotype is simple and easy to use. Based on the findings discussed in this paper, we recommend the use of the WMP2 cell line for future prospective gene mapping in the mouse.

我们对小鼠细胞系WMP2进行了gtg -band分析和光谱核型分析,以验证使用该来源于WMP/WMP小鼠的已建立细胞系的可靠性。WMP细胞系含有易识别的异心融合染色体,广泛用于基因定位。由于WMP1细胞系的核型改变,我们检测了WMP2。结果表明,WMP2在培养过程中稳定,核型简单,易于使用。基于本文讨论的结果,我们建议使用WMP2细胞系进行未来小鼠基因定位。
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引用次数: 15
Assignment of human 3-phosphoglycerate dehydrogenase (PHGDH) to human chromosome band 1p12 by fluorescence in situ hybridization. 用荧光原位杂交技术鉴定人3-磷酸甘油酸脱氢酶(PHGDH)在人染色体1p12带上的位置。
Pub Date : 2000-01-01 DOI: 10.1159/000015577
J Y Baek, D Y Jun, D Taub, Y H Kim
3-Phosphoglycerate dehydrogenase (PHGDH) catalyzes the transition of 3-phosphoglycerate into 3-phosphohydroxypyruvate, which is the initiating and rate-limiting step in the phosphorylated pathway of serine biosynthesis. It has been suggested that an enhanced capacity of serine synthesis resulting from upregulation of the activity of PHGDH may confer a growthadvantage to tumor cells through its coupling to nucleotide biosynthesis (Snell et al., 1988). It has also been reported that the deficiency of human PHGDH activity can be a main cause for the inborn errors of serine biosynthesis, which result in a severe neurological syndrome and growth retardation (Jaeken et al., 1996). To elucidate the molecular basis for the changes of PHGDH activity directly associated with these human diseases, we have recently cloned and sequenced the human PHGDH gene (Cho et al., 1999). Here we report assignment of human PHGDH to human chromosome 1p12 by fluorescence in situ hybridization. Materials and methods
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引用次数: 2
Genomic structure and chromosome location of the mouse RelA p65 gene (Rela). 小鼠RelA p65基因(RelA)的基因组结构和染色体定位。
Pub Date : 2000-01-01 DOI: 10.1159/000015591
E R Lemmer, J L Welch, T Tsai, C L Keck-Waggoner, C Huh, D B Zimonjic, N C Popescu, S S Thorgeirsson

The RelA (p65) subunit of transcription factor NF-kappaB plays a critical role in development, and rela(-/-) knockout mice die in utero from massive liver apoptosis. Only partial sequences of the mouse Rela gene are available. We have determined the genomic structure of mouse Rela and promoter, and have mapped the gene to chromosome 19B1-3.

转录因子NF-kappaB的RelA (p65)亚基在发育过程中起关键作用,RelA(-/-)敲除小鼠在子宫内死于大量肝脏凋亡。只有小鼠Rela基因的部分序列是可用的。我们已经确定了小鼠Rela和启动子的基因组结构,并将其定位在染色体19B1-3上。
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引用次数: 2
期刊
Cytogenetics and cell genetics
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