Cytogenetics and cell genetics最新文献

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Assignment of the murine def-3 gene (Rbm6) to chromosome 9F1-F2 and its pseudogenes Rbm6-ps1 and Rbm6-ps2 to chromosome 1 by in situ hybridisation. 小鼠def3基因(Rbm6)在9F1-F2染色体上的原位杂交及其假基因Rbm6-ps1和Rbm6-ps2在1号染色体上的原位杂交。

Cytogenetics and cell genetics

Pub Date : 2000-01-01 DOI: 10.1159/000015623

Y M Heng, M Fox, F Sablitzky

The mouse def-3 gene (Rbm6), which defines a novel family of RNA binding proteins, was isolated from differentiating myeloid progenitor cells (Hotfilder et al., 1999). The human homologue was identified from the human 3p21.3 small cell lung cancer (SCLC) deletion region (DEF-3: Drabkin et al., 1999; RBM6: Timmer et al., 1999) and as a target for autoantibodies in SCLC (NY-LU-12: Gure et al., 1998). Here, we report isolating murine genomic clones, representing (1) the def-3 locus (Rbm6), (2) a processed pseudogene Rbm6-ps1 and (3) an apparently non-processed pseudogene Rbm6-ps2 (Table 1). Using FISH, we assigned murine Rbm6 to chromosome 9F1–F2 (Fig. 1A). In addition, the two pseudogenes both map to chromosome 1, in regions A3–A5 (Rbm6-ps1) and G (Rbm6-ps2) (Fig. 1B).

引用次数: 1

Genomic organization and assignment of VAMP2 to 17p12 by FISH. VAMP2到17p12的基因组组织和FISH定位。

Cytogenetics and cell genetics

Pub Date : 2000-01-01 DOI: 10.1159/000015612

G K Zoraqi, S Paradisi, V Falbo, D Taruscio

We describe the complete sequence, genomic organization, and FISH chromosome mapping of the human VAMP2. We identified a 7-kb clone, pISSHG2b3A, containing the entire structure of VAMP2. Previous studies performed by others identified a 5-kb clone, pVPC5-2, containing the incomplete VAMP2. The pVPC5-2 clone was partially sequenced and mapped to the broad region 17pter-->p12 by somatic cell hybridization. Our clone overlaps the pVPC5-2 clone and extends approximately 2 kb at the 3' end. In this study, we mapped this gene more precisely on 17p12 by FISH and we found a new polymorphic microsatellite, (GT)(7)CC(GT)(5), in exon V. This microsatellite, revealing three alleles with frequencies of 0.778, 0.139, and 0.083, might be useful for future linkage studies. Finally, we localized three previously known markers, stSG12859, TIGR-A002F11, and WIAF-1699 (alias stSG4044), in the 3' untranslated region of the gene.

我们描述了人类VAMP2的完整序列、基因组组织和FISH染色体定位。我们鉴定出一个7kb的克隆，pISSHG2b3A，包含VAMP2的整个结构。其他人先前的研究发现了一个5kb的克隆pVPC5-2，包含不完整的VAMP2。对pVPC5-2克隆进行了部分测序，并通过体细胞杂交定位到17pter- >p12宽区。我们的克隆与pVPC5-2克隆重叠，在3'端延伸约2kb。在这项研究中，我们通过FISH更精确地定位了该基因在17p12上的位置，并在v外显子上发现了一个新的多态性微卫星(GT)(7)CC(GT)(5)，该微卫星揭示了三个频率分别为0.778,0.139和0.083的等位基因，可能对未来的连锁研究有用。最后，我们在基因的3'非翻译区定位了三个已知的标记，stSG12859, TIGR-A002F11和WIAF-1699(别名stSG4044)。

引用次数: 2

Murine chromosome 16 telomeric region, homologous with human chromosome 21q22, contains the osmoregulatory Na(+)/myo-inositol cotransporter (SLC5A3) gene. 小鼠16号染色体端粒区与人类21q22染色体同源，含有渗透调节Na(+)/肌醇共转运蛋白(SLC5A3)基因。

Cytogenetics and cell genetics

Pub Date : 2000-01-01 DOI: 10.1159/000015509

K E McVeigh, J J Mallee, A Lucente, B L Barnoski, S Wu, G T Berry

The murine Na(+)/myo-inositol cotransporter (SLC5A3) gene (Slc5a3) was cloned, the restriction sites mapped, and the coding region sequenced. Similar to other mammalian counterparts, including human, the gene has a single coding exon, with an open reading frame of 2.2 kb. The predicted protein of 718 amino acids is also highly conserved, compared to other mammalian homologs. Using fluorescence in situ hybridization, Slc5a3 was localized to the telomeric region of mouse chromosome 16, which is syntenic to human chromosome 21q22. An increased Slc5a3 copy number may explain the increased levels of myo-inositol in the brains of trisomy 16 mice and the increased rate of transport of myo-inositol into cultured neurons derived from trisomy 16 mice.

克隆小鼠Na(+)/肌醇共转运体(SLC5A3)基因(SLC5A3)，绘制酶切位点，并对其编码区进行测序。与包括人类在内的其他哺乳动物类似，该基因有一个编码外显子，具有2.2 kb的开放阅读框。与其他哺乳动物同源物相比，预测的718个氨基酸的蛋白质也高度保守。利用荧光原位杂交技术，Slc5a3定位于小鼠16号染色体的端粒区，与人类21q22染色体同源。Slc5a3拷贝数的增加可能解释了16三体小鼠大脑中肌醇水平的增加，以及肌醇转运到16三体小鼠培养的神经元中的速率增加。

引用次数: 14

Cooperation of selection and meiotic mechanisms in the production of imbalances in reciprocal translocations. 互惠易位失衡产生中的选择合作与减数分裂机制。

Cytogenetics and cell genetics

Pub Date : 2000-01-01 DOI: 10.1159/000015476

T Faraut, M A Mermet, J Demongeot, O Cohen

We have used data from chromosomally unbalanced offspring observed at birth, as well as data from sperm chromosome analysis, to study the meiotic segregation of reciprocal translocations. Using data from a total of 1,597 unbalanced children, we have observed an excess in maternal origin for all modes of imbalance. This excess is particularly marked for the 3:1 unbalanced mode, for which we have also observed a maternal age effect, indicating a close relationship with autosomal trisomies. In addition, a statistical analysis of data from 34 different published studies using sperm chromosome analysis has demonstrated that factors which, for reasons of viability, produce a predisposition for a particular mode of imbalance at birth also appear to favor meiotic production of this type of imbalance. Thus the production of unbalanced gametes of a particular type is influenced by the size of the imbalance.

我们使用出生时观察到的染色体不平衡后代的数据，以及精子染色体分析的数据，来研究互惠易位的减数分裂分离。利用来自1597名失衡儿童的数据，我们观察到所有失衡模式的母系起源都存在过剩。这种过剩在3:1不平衡模式中特别明显，我们也观察到母亲年龄的影响，表明与常染色体三体密切相关。此外，对34项已发表的精子染色体分析研究数据的统计分析表明，由于生存能力的原因，在出生时产生特定失衡模式的因素似乎也有利于减数分裂产生这种失衡类型。因此，特定类型的不平衡配子的产生受到不平衡大小的影响。

引用次数: 58

Assignment of SYNJ1 to human chromosome 21q22.2 and Synj12 to the murine homologous region on chromosome 16C3-4 by in situ hybridization. 通过原位杂交将SYNJ1定位到人类染色体21q22.2上，将Synj12定位到小鼠染色体16C3-4上的同源区。

Cytogenetics and cell genetics

Pub Date : 2000-01-01 DOI: 10.1159/000015493

O Cremona, M Nimmakayalu, C Haffner, P Bray-Ward, D C Ward, P De Camilli

Synaptojanin 1 is a polyphosphoinositide phosphatase highly enriched in nerve terminals (McPherson et al., 1996). The NH2-terminal two thirds of the protein encode two distinct inositol phosphatase modules (a 5)-phosphatase domain and a Sac1-like phosphatase domain), while its proline-rich tail interacts with SH3 and EH domain-containing proteins (McPherson et al., 1996; Haffner et al., 1997; Guo et al., 1999; Cremona et al., 1999). Based on its subcellular localization, the putative function of some of its interactors and genetic studies in yeast, synaptojanin 1 was proposed to play a role in clathrin-mediated synaptic vesicle endocytosis, actin function and signaling (Cremona and De Camilli, 1997). Recent studies on knockout mice have shown that the synaptojanin 1 gene is an essential gene whose inactivation produces alteration of synaptic vesicle recycling. In particular, synaptojanin 1, via its effect on the phosphoinositide metabolism, appears to act as a negative regulator of clathrin coats (Cremona et al., 1999). The gene symbol for the human synaptojanin 1 gene is SYNJ1 and the murine gene symbol is Synj1. The mouse gene Synj1 has been previously mapped to mouse X chromosome region D (observation in Woscholski et al., 1998). Our hybridization results refute the X chromosome assignment and extend the known homology between human chromosome 21q22 and mouse chromosome 16C3–4. The mouse gene for synaptojanin 2 (Synj2) was localized elsewhere (chromosome 17A2–3.1, Khvotchev and Sudhof, 1998). Recently, human intersectin, a synaptojanin 1 interactor, has been assigned upstream to the SYNJ1 gene (chromosome 21q22.1→q22.2, Guipponi et al., 1998).

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引用次数: 20

Assignment of the human reticulon 4 gene (RTN4) to chromosome 2p14-->2p13 by radiation hybrid mapping. 人类网状结构4基因(RTN4)在2p14- >2p13染色体上的定位

Cytogenetics and cell genetics

Pub Date : 2000-01-01 DOI: 10.1159/000015499

J Yang, L Yu, A D Bi, S Y Zhao

The human reticulon I gene (RTN1) cloned from a smallcell lung cancer (SCLC) NC1-H82 cell line (Roebroek et al., 1993) and mapped to chromosome 14q21→q22 (Kools et al., 1994) has three alternative transcripts (3.4, 2.3, and 1.8 kb) which can produce three different proteins (NSP-A with 776 amino acids, NSP-B with 356 amino acids and NSP-C with 208 amino acids.) with common carboxyl-terminal regions. These proteins are anchored to membranes of the endoplasmic reticulum and are collectively designated reticulons (Senden et al., 1994). The NSP-A and NSP-C proteins are expressed only in SCLC cells with neuroendocrine phenotypes as shown by Northern blot analysis, so it was proposed that the NSP proteins exist in some relationship with the occurrence of neuroendocrine SCLC (van de Velde et al., 1994). Two other genes whose 3)-regions are homologous to that of RTN1 were cloned and mapped to chromosome 19q13.3 and 11q13 respectively (Roebroek et al., 1998; Moreira et al., 1999). Although their functions are still not clear, they are regarded as members of the reticulon gene family and are called RTN2 and RTN3. Recently, a novel gene whose 3)-region is also homologous to that of RTN1 and which also has 3 alternative transcripts (4632, 2235 and 1617 bp, GenBank nos. AF148537, AF148538 and AF087901) was cloned in our laboratory and named RTN4 (including RTN4A, RTN4B and RTN4C) by the HUGO Nomenclature committee. Here, we report that the RTN4 gene was mapped to chromosome 2p14→p13 by using a radiation hybrid mapping panel.

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引用次数: 27

Cloning and expression of CIS6, chromosome assignment to 3p22 and 2p21 by in situ hybridization. CIS6的克隆与表达，原位杂交鉴定染色体3p22和2p21。

Cytogenetics and cell genetics

Pub Date : 2000-01-01 DOI: 10.1159/000015490

F Magrangeas, F Apiou, S Denis, U Weidle, Y Jacques, S Minvielle

A family of negative regulators of JAK signaling pathway referred to as suppressor of cytokines signaling (SOCS) or cytokine-inducible SH2 protein (CIS) has been recently identified. In order to find additional members of this family, we have used a consensus amino acid sequence contained in the well-conserved central SH2 domain to search DNA databases. We isolated cDNA coding for the human homologue of SOCS-5, referred to as CIS6. Northern blot analysis revealed CIS6 mRNA expression in various tissues such as heart, muscle, spleen, and thymus and in all myeloma cell lines examined. The gene was assigned to human chromosome bands 2p21 and 3p22 by in situ hybridization. CIS6 is structurally related to other members of the CIS family and therefore could act as a negative regulator of signal transduction.

最近发现了一个JAK信号通路的负调控因子家族，称为细胞因子信号抑制因子(SOCS)或细胞因子诱导的SH2蛋白(CIS)。为了找到这个家族的其他成员，我们使用了一个保守的SH2结构域的一致氨基酸序列来搜索DNA数据库。我们分离了人类SOCS-5同源基因的cDNA编码，称为CIS6。Northern blot分析显示，CIS6 mRNA在心脏、肌肉、脾脏、胸腺等组织和所有骨髓瘤细胞系中均有表达。通过原位杂交将该基因定位到人类染色体2p21和3p22条带上。CIS6在结构上与CIS家族的其他成员相关，因此可以作为信号转导的负调节因子。

引用次数: 14

The SRY gene HMG-box in micro- and megabats. SRY基因HMG-box在微兆位和兆位。

Cytogenetics and cell genetics

Pub Date : 2000-01-01 DOI: 10.1159/000015479

M Bullejos, A Sánchez, M Burgos, R Jiménez, R Díaz De La Guardia

Sex determination in mammals is controlled by the Y-linked SRY gene, which encodes a transcription factor with a DNA-binding motif of the HMG type. The only conserved region in this gene is the HMG-box, whose nucleotide sequence is currently available in a number of mammalian taxa. However, nothing is known about this gene in bats. Here, we report partial sequences of the SRY HMG-box from four microbat and four megabat species. We used the SRY HMG- box sequences from micro- and megabats to test the phylogenetic relationships between microbats, megabats, and primates. In maximum parsimony and maximum-likelihood trees, mega- and microbat branches start in the same internal node, which is consistent with a monophyletic origin of this mammalian group.

哺乳动物的性别决定由y连锁的SRY基因控制，该基因编码具有HMG型dna结合基序的转录因子。该基因中唯一保守的区域是HMG-box，其核苷酸序列目前在许多哺乳动物分类群中可用。然而，人们对蝙蝠的这种基因一无所知。本文报道了4种蝙蝠和4种巨蝠SRY HMG-box的部分序列。我们使用来自微型蝙蝠和巨型蝙蝠的SRY HMG- box序列来测试微型蝙蝠、巨型蝙蝠和灵长类动物之间的系统发育关系。在最大简约树和最大似然树中，巨型和微型蝙蝠的分支开始于同一个内部节点，这与该哺乳动物群体的单系起源一致。

引用次数: 12

Cloning and mapping of murine superoxide dismutase copper chaperone (Ccsd) and mapping of the human ortholog. 小鼠超氧化物歧化酶铜伴侣蛋白(Ccsd)的克隆、定位和人类同源基因定位。

Cytogenetics and cell genetics

Pub Date : 2000-01-01 DOI: 10.1159/000015480

S D Moore, M M Chen, D W Cox

Copper does not exist in a free state within cells but is found consistently bound to metalloproteins. Specific metallochaperones escort copper to numerous targets within the cell, providing protection from the toxic effects of intracellular free copper. Many metallochaperones have been characterized in yeast, mouse, and human. To further characterize mouse metallochaperones, we cloned murine Ccsd from an adult mouse cDNA brain library, including both the coding region and the 5' and 3' UTRs. We obtained a 1,174-bp cDNA with an 825-bp open reading frame, translating a 274 amino acid protein that is 86.9% identical to human CCS. Using a mouse x hamster radiation hybrid panel, we mapped Ccsd to a proximal position on mouse chromosome 19. We mapped human CCS to 11q13 (homologous with mouse chromosome 19), utilizing a human x hamster radiation hybrid panel. The human and mouse metallochaperones are ubiquitously expressed in the major tissues of the body but seem to have different transcription products.

铜在细胞内不是以自由状态存在，而是始终与金属蛋白结合。特定的金属伴侣护送铜到细胞内的许多目标，提供保护免受细胞内游离铜的毒性作用。许多金属伴侣蛋白已在酵母、小鼠和人类中被鉴定。为了进一步表征小鼠金属伴侣，我们从一个成年小鼠cDNA脑文库中克隆了小鼠Ccsd，包括编码区和5'和3' utr。我们获得了一个1174 -bp的cDNA和一个825-bp的开放阅读框，翻译了一个274个氨基酸的蛋白质，与人类CCS相同86.9%。利用小鼠-仓鼠辐射杂交面板，我们将Ccsd定位到小鼠19号染色体的近端位置。我们利用人-仓鼠辐射杂交面板，将人类CCS定位到11q13(与小鼠19号染色体同源)。人和小鼠金属伴侣蛋白在人体主要组织中普遍表达，但似乎具有不同的转录产物。

引用次数: 9

Assignment of the neuropsin gene (Prss19) to mouse chromosome band 7B4 by in situ hybridization. 神经素基因(Prss19)在小鼠染色体7B4带的原位杂交。

Cytogenetics and cell genetics

Pub Date : 2000-01-01 DOI: 10.1159/000015497

S Yoshida, A Hirata, N Inoue, S Shiosaka

Neuropsin is a serine protease which belongs to the trypsin/ kallikrein superfamily (Chen et al., 1995; Shimizu et al., 1998; Yoshida et al., 1998; Kishi et al., 1999). Several lines of evidence suggests that neuropsin is important in neural plasticity in the brain (Chen et al., 1995; Okabe et al., 1996; Momota et al., 1998). Genomic organization of the human neuropsin gene is very similar to those for the trypsin/kallikrein gene superfamily (Yoshida et al., 1998). To elucidate genomic organization of the mouse neuropsin gene, we cloned the mouse neuropsin gene (Prss19) and assigned its location on chromosome 7B4. This region is close to the kallikrein gene cluster and highly homologous with human chromosome 19q13.3→q13.4 (Stubbs et al., 1996), suggesting that the neuropsin gene and kallikrein genes may have evolved from a common ancestor. Materials and methods

引用次数: 6

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