Cytogenetics and cell genetics最新文献_第8页

Peg1/Mest locates distal to the currently defined imprinting region on mouse proximal chromosome 6 and identifies a new imprinting region affecting growth. Peg1/Mest定位于小鼠6号染色体近端当前定义的印迹区域远端，并识别出影响生长的新印迹区域。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000056794

C V Beechey

{"title":"Peg1/Mest locates distal to the currently defined imprinting region on mouse proximal chromosome 6 and identifies a new imprinting region affecting growth.","authors":"C V Beechey","doi":"10.1159/000056794","DOIUrl":"https://doi.org/10.1159/000056794","url":null,"abstract":"Mice with maternal duplication for proximal chromosome 6 (Chr 6) die in utero before 11.5 dpc, an effect that can be attributed to genomic imprinting. Previous studies have defined the region of Chr 6 responsible as lying proximal to the T6Ad translocation breakpoint in G-band 6B3. Evidence presented here with a new Chr 6 translocation T77H has substantially reduced the size of the imprinting region, locating it between G-band 6A3.2 and the centromere. The paternally expressed imprinted gene Mest had been mapped within the original imprinting region and was therefore a candidate for the early embryonic lethality. FISH has shown that Mest locates distal to T77H and therefore outside the redefined imprinting region. This evidence confirms that Mest is not a candidate for the early embryonic lethality found with two maternal copies of proximal Chr 6. Furthermore mice with maternal duplication for Ch 6 distal to T77H (MatDp.dist6) were found to be growth retarded at birth, the weight reduction remaining similar until adulthood. It can be concluded that the growth retardation is established in utero and is maintained at a similar level from birth to adulthood. Therefore Mest locates in a new imprinting region, distal to G-band 6A3.2 which affects growth. A targeted mutation of Mest has been reported that exhibits growth retardation, reduced postnatal survival and abnormal maternal behaviour. Here the phenotype of MatDp.dist6 mice is compared to that of Mest-deficient mutant mice. Unlike the latter, MatDp.dist6 mice have good survival rates and females have normal maternal behaviour. Possible reasons for these differences are discussed.","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":"90 3-4","pages":"309-14"},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000056794","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21947044","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: 34

Assignment of TRA1 encoding ppk98 to pig chromosome 5 by fluorescent in situ hybridization and confirmation by somatic cell hybrid analysis. 利用荧光原位杂交技术将编码ppk98的TRA1基因定位到猪5号染色体上并进行体细胞杂交分析。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000056796

J H Calvo, N L Lopez-Corrales, S I Anderson, A Robic, P Zaragoza, A L Archibald, R Osta

{"title":"Assignment of TRA1 encoding ppk98 to pig chromosome 5 by fluorescent in situ hybridization and confirmation by somatic cell hybrid analysis.","authors":"J H Calvo, N L Lopez-Corrales, S I Anderson, A Robic, P Zaragoza, A L Archibald, R Osta","doi":"10.1159/000056796","DOIUrl":"https://doi.org/10.1159/000056796","url":null,"abstract":"Porcine protein kinase 98 (ppk98) is a stress-inducible glycoprotein that is known to be constitutively and ubiquitously expressed in the endoplasmic reticulum of mammalian cells (Dechert et al., 1994). The genomic DNA sequence of the ppk98 gene has been determined by Konig et al. (1997). Sequence analyses revealed domains that are highly conserved with the human tumor rejection antigen (TRA1) or glucose-regulated protein (GRP94) genes. These findings suggest that these proteins are either identical or represent a family of closely related proteins (Konig et al., 1997). The human and mouse TRA1 genes have been located to human (HSA) chromosome 12 and mouse (MMU) chromosome 10, but, as yet, the porcine ppk98 gene (TRA1) has not been mapped. We report the localization of the pig ppk98 gene (TRA1) to porcine chromosome 5 by fluorescent in situ hybridization and somatic cell hybrid panel. This assignment supports the hypothesis that the ppk98 gene is the porcine homologue of the human TRA1 gene. Materials and methods","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":"90 3-4","pages":"321-2"},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000056796","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21947046","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

Zoo-FISH with region-specific paints for mink chromosome 5q: delineation of inter- and intrachromosomal rearrangements in human, pig, and fox. 用区域特异性颜料绘制水貂染色体5q的Zoo-FISH:人类、猪和狐狸染色体间和染色体内重排的描绘。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000056786

N B Rubtsov, T V Karamisheva, N M Astakhova, T Liehr, U Claussen, N S Zhdanova

引用次数: 38

Cloning, characterization, and physical mapping of the canine Prop-1 gene (PROP1): exclusion as a candidate for combined pituitary hormone deficiency in German shepherd dogs. 犬Prop-1基因(PROP1)的克隆、表征和物理定位:排除德国牧羊犬联合垂体激素缺乏症的候选基因。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015507

I S Lantinga-van Leeuwen, H S Kooistra, J A Mol, C Renier, M Breen, B A van Oost

{"title":"Cloning, characterization, and physical mapping of the canine Prop-1 gene (PROP1): exclusion as a candidate for combined pituitary hormone deficiency in German shepherd dogs.","authors":"I S Lantinga-van Leeuwen, H S Kooistra, J A Mol, C Renier, M Breen, B A van Oost","doi":"10.1159/000015507","DOIUrl":"https://doi.org/10.1159/000015507","url":null,"abstract":"Abnormalities in the genes encoding Pit-1 and Prop-1 have been reported to cause combined pituitary hormone deficiency (CPHD) in mice and humans. In dogs, a similar phenotype has been described in the German shepherd breed. We have previously reported that the Pit-1 gene (POU1F1) is not mutated in affected German shepherd dogs. In this study, we report the isolation and mapping of the canine Prop-1 gene (PROP1), and we assessed the involvement of PROP1 in German shepherd dog dwarfism. The canine PROP1 gene was found to contain three exons, encoding a 226 amino acid protein. The deduced amino acid sequence was 79% and 84% homologous with the mouse and human Prop-1 protein, respectively. Using fluorescence in situ hybridization, PROP1 was mapped to canine chromosome 11. Further mapping with a canine radiation hybrid panel showed co-localization with the polymorphic DNA marker AHT137. Sequence analysis of genomic DNA from dwarf German shepherd dogs revealed no alterations in the PROP1 gene. Moreover, linkage analysis of AHT137 revealed no co-segregation between the PROP1 locus and the CPHD phenotype, excluding this gene as candidate for canine CPHD and providing a new spontaneous model of hypopituitarism.","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":"88 1-2","pages":"140-4"},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015507","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21622453","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: 21

Mapping of Zyx coding for zyxin in the rat and its exclusion as a candidate gene for lymphopenia. 大鼠Zyx编码酶的定位及其作为淋巴细胞减少症候选基因的排除。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015515

L Hornum, H Markholst

{"title":"Mapping of Zyx coding for zyxin in the rat and its exclusion as a candidate gene for lymphopenia.","authors":"L Hornum, H Markholst","doi":"10.1159/000015515","DOIUrl":"https://doi.org/10.1159/000015515","url":null,"abstract":"Zyxin is a phosphoprotein localized at sites of cell adhesion. It binds to the guanine nucleotide exchange factor Vav1 involved in thymocyte selection and is possibly involved in the Vav1 dependent pathway of TCR signaling (Hobert et al., 1996). This makes the zyxin gene (Zyx) a putative candidate for the rat diabetes susceptibility gene, Iddm1, also known as Lyp. A mutation in the latter gene is responsible for a profound T cell lymphopenia that resembles the lymphopenia of Vav1KO mice. In addition, the human zyxin-gene is located very close to a number of genes mapping in the vicinity of Iddm1 in the rat (Zumbrunn and Trueb, 1998). We therefore proposed Zyx as a positional candidate for rat Iddm1. In this study we have mapped Zyx with a rat radiation hybrid (RH) panel using mouse-derived primers for PCR amplification and detection of a Single-Strand Conformational Polymorphism between hamster and rat. The amplified rat segment was 95% identical to mouse Zyx. We positioned Zyx to rat chromosome 4 between markers Prss1 and D4Mit5. Since Iddm1 is positioned between markers D4Rat75 and Npy this excludes Zyx as a candidate gene for Iddm1. Materials and methods","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":"88 3-4","pages":"310-1"},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015515","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21673114","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

Assignment of the GPR14 gene coding for the G-protein-coupled receptor 14 to human chromosome 17q25.3 by fluorescent in situ hybridization. 编码g蛋白偶联受体14的GPR14基因在人类染色体17q25.3上的荧光原位杂交。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015516

A Protopopov, V Kashuba, R Podowski, R Gizatullin, E Sonnhammer, C Wahlestedt, E R Zabarovsky

{"title":"Assignment of the GPR14 gene coding for the G-protein-coupled receptor 14 to human chromosome 17q25.3 by fluorescent in situ hybridization.","authors":"A Protopopov, V Kashuba, R Podowski, R Gizatullin, E Sonnhammer, C Wahlestedt, E R Zabarovsky","doi":"10.1159/000015516","DOIUrl":"https://doi.org/10.1159/000015516","url":null,"abstract":"The orphan G-protein-coupled receptors (GPRs) constitute an abundant family of membrane receptors of high pharmacological interest (Wilson et al., 1998). The NCBI BLASTX analysis revealed that partial sequence of our NotI linking clone NB1-680 isolated from a human NotI linking library (Zabarovsky et al., 1994) displays 78% identity with rat Gpr14 (Marchese et al., 1995) in a 123 aa overlap. The sequenced region was extended to 1714 bp. This sequence reveals a 389 aa open reading frame with high similarity to GPRs. Recently a new member of this family, human GPR14, has been cloned (Ames et al., 1999). This gene is expressed mainly in cardiovascular tissue and the GPR14 protein is able to mobilize intracellular Ca2+ in response to human urotensin-II and effectively constricts arteries. The translated sequence of NB1-680 is 100% identical to GPR14 protein in a 389 aa overlap (or 99% over a 1,166-bp overlap, two nucleotide changes). The only amino acid difference is Asp 235 in our protein instead of Ala 235 in GPR14. Most probably this difference reflects polymorphism and thus it means that our NB1-680 contains the GPR14 gene.","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":"88 3-4","pages":"312-3"},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015516","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21673115","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: 23

Assignment of the plakophilin-2 gene (PKP2) and a plakophilin-2 pseudogene (PKP2P1) to human chromosome bands 12p11 and 12p13, respectively, by in situ hybridization. 通过原位杂交，将plakophilin-2基因(PKP2)和plakophilin-2假基因(PKP2P1)分别定位到人类染色体带12p11和12p13上。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015540

S Bonné, J van Hengel, F van Roy

引用次数: 10

Chromosomal localization of GPR48, a novel glycoprotein hormone receptor like GPCR, in human and mouse with radiation hybrid and interspecific backcross mapping. 与GPCR类似的新型糖蛋白激素受体GPR48的染色体定位与辐射杂交和种间回交定位

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015576

E D Loh, S R Broussard, Q Liu, N G Copeland, D J Gilbert, N A Jenkins, L F Kolakowski

引用次数: 26

DNA hypomethylation and unusual chromosome instability in cell lines from ICF syndrome patients. ICF综合征患者细胞系的DNA低甲基化和异常染色体不稳定。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015590

C M Tuck-Muller, A Narayan, F Tsien, D F Smeets, J Sawyer, E S Fiala, O S Sohn, M Ehrlich

{"title":"DNA hypomethylation and unusual chromosome instability in cell lines from ICF syndrome patients.","authors":"C M Tuck-Muller, A Narayan, F Tsien, D F Smeets, J Sawyer, E S Fiala, O S Sohn, M Ehrlich","doi":"10.1159/000015590","DOIUrl":"https://doi.org/10.1159/000015590","url":null,"abstract":"The ICF syndrome (immunodeficiency, centromeric region instability, facial anomalies) is a unique DNA methylation deficiency disease diagnosed by an extraordinary collection of chromosomal anomalies specifically in the vicinity of the centromeres of chromosomes 1 and 16 (Chr1 and Chr16) in mitogen-stimulated lymphocytes. These aberrations include decondensation of centromere-adjacent (qh) heterochromatin, multiradial chromosomes with up to 12 arms, and whole-arm deletions. We demonstrate that lymphoblastoid cell lines from two ICF patients exhibit these Chr1 and Chr16 anomalies in 61% of the cells and continuously generate 1qh or 16qh breaks. No other consistent chromosomal abnormality was seen except for various telomeric associations, which had not been previously noted in ICF cells. Surprisingly, multiradials composed of arms of both Chr1 and Chr16 were favored over homologous associations and cells containing multiradials with 3 or >4 arms almost always displayed losses or gains of Chr1 or Chr16 arms from the metaphase. Our results suggest that decondensation of 1qh and 16qh often leads to unresolved Holliday junctions, chromosome breakage, arm missegregation, and the formation of multiradials that may yield more stable chromosomal abnormalities, such as translocations. These cell lines maintained the abnormal hypomethylation in 1qh and 16qh seen in ICF tissues. The ICF-specific hypomethylation occurs in only a small percentage of the genome, e.g., ICF brain DNA had 7% less 5-methylcytosine than normal brain DNA. The ICF lymphoblastoid cell lines, therefore, retain not only the ICF-specific pattern of chromosome rearrangements, but also of targeted DNA hypomethylation. This hypomethylation of heterochromatic DNA sequences is seen in many cancers and may predispose to chromosome rearrangements in cancer as well as in ICF.","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":"89 1-2","pages":"121-8"},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015590","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21736274","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: 237

Conserved synteny between the chicken Z sex chromosome and human chromosome 9 includes the male regulatory gene DMRT1: a comparative (re)view on avian sex determination. 鸡Z性染色体与人类9号染色体的保守同源性包括雄性调控基因DMRT1:鸟类性别决定的比较(再)观点。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015567

I Nanda, E Zend-Ajusch, Z Shan, F Grützner, M Schartl, D W Burt, M Koehler, V M Fowler, G Goodwin, W J Schneider, S Mizuno, G Dechant, T Haaf, M Schmid

{"title":"Conserved synteny between the chicken Z sex chromosome and human chromosome 9 includes the male regulatory gene DMRT1: a comparative (re)view on avian sex determination.","authors":"I Nanda, E Zend-Ajusch, Z Shan, F Grützner, M Schartl, D W Burt, M Koehler, V M Fowler, G Goodwin, W J Schneider, S Mizuno, G Dechant, T Haaf, M Schmid","doi":"10.1159/000015567","DOIUrl":"https://doi.org/10.1159/000015567","url":null,"abstract":"Sex-determination mechanisms in birds and mammals evolved independently for more than 300 million years. Unlike mammals, sex determination in birds operates through a ZZ/ZW sex chromosome system, in which the female is the heterogametic sex. However, the molecular mechanism remains to be elucidated. Comparative gene mapping revealed that several genes on human chromosome 9 (HSA 9) have homologs on the chicken Z chromosome (GGA Z), indicating the common ancestry of large parts of GGA Z and HSA 9. Based on chromosome homology maps, we isolated a Z-linked chicken ortholog of DMRT1, which has been implicated in XY sex reversal in humans. Its location on the avian Z and within the sex-reversal region on HSA 9p suggests that DMRT1 represents an ancestral dosage-sensitive gene for vertebrate sex-determination. Z dosage may be crucial for male sexual differentiation/determination in birds.","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":"89 1-2","pages":"67-78"},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015567","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21737096","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: 178