Cytogenetics and cell genetics最新文献_第6页

Spontaneous frequencies of aneuploid and diploid sperm in 10 normal Chinese men: assessed by multicolor fluorescence in situ hybridization. 10例正常中国男性非整倍体和二倍体精子的自发频率:多色荧光原位杂交评估。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015668

Q Shi, R H Martin

{"title":"Spontaneous frequencies of aneuploid and diploid sperm in 10 normal Chinese men: assessed by multicolor fluorescence in situ hybridization.","authors":"Q Shi, R H Martin","doi":"10.1159/000015668","DOIUrl":"https://doi.org/10.1159/000015668","url":null,"abstract":"Many studies have been published establishing the background frequencies of disomic and diploid sperm in normal men by fluorescence in situ hybridization (FISH) analysis, with highly significant variance among the reports. Besides interdonor heterogeneity and differences in the experimental protocols used, the question of inherent differences in chromosome malsegregation and meiotic arrest among different geographic and ethnic groups of donors has been raised. In this study, multicolor FISH analysis was carried out on semen samples from 10 nonsmoking, nondrinking Chinese men from the People's Republic of China. The results were compared to FISH data on 10 nonsmoking, nondrinking Canadians under the same experimental conditions, in the same laboratory. A total of 200,497 sperm was scored in the Chinese donors and compared to 202,320 sperm from Canadian donors. Approximately 10,000 sperm per chromosome probe per donor were analyzed. The mean hybridization efficiency was 99.99%. The frequencies of X-bearing and Y-bearing sperm were not significantly different from the expected 50% for each individual and for the combined data from all donors (49.73% vs. 49.46%, P = 0.3946). The mean disomy frequencies (range) were 0.07% (0.02%-0.12%) for chromosome 13, 0.18% (0.09%-0.19%) for chromosome 21, 0.05% (0. 01%-0.09%) for 24,XX, 0.02% (0.01%-0.06%) for 24,YY, and 0.29% (0. 13%-0.49%) for 24,XY. The mean diploidy frequency (range) was 0.38% (0.22%-0.73%) for 13-21 hybridizations and 0.32% (0.07%-0.70%) for XY hybridizations. Highly significant interdonor heterogeneity was found for diploidy (P = 0.0000) and for XY disomy (P = 0.0011), but no age effect was observed in any category of disomic or diploid sperm. The data reported here show no marked differences in disomy and diploidy frequencies between the mainland Chinese and Canadian groups, if donor heterogeneity is taken into account.","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":"90 1-2","pages":"79-83"},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015668","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21887673","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: 38

Assignment of the 100-kDa subunit of cleavage and polyadenylation specificity factor (CPSF2) to human chromosome 14q31.3 by radiation hybrid mapping. 通过辐射杂交定位将切割和多腺苷化特异性因子(CPSF2)的100 kda亚基定位到人类染色体14q31.3。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000056798

M Samiotaki, N A Balatsos, N Courtis, C M Tsiapalis

{"title":"Assignment of the 100-kDa subunit of cleavage and polyadenylation specificity factor (CPSF2) to human chromosome 14q31.3 by radiation hybrid mapping.","authors":"M Samiotaki, N A Balatsos, N Courtis, C M Tsiapalis","doi":"10.1159/000056798","DOIUrl":"https://doi.org/10.1159/000056798","url":null,"abstract":"The generation of a new 3) end is part of the eukaryotic premRNA maturation process, in which a poly(A) tail is added by two coupled reactions: endonucleolytic cleavage at the poly(A) site followed by the polyadenylation of the upstream cleaved product (Wahle and Kuhn, 1997). A multicomponent complex sufficient to complete the 3) processing reactions is comprised of Cleavage and Polyadenylation Specificity Factor (CPSF), CstF (Cleavage stimulation Factor), CF Im (Cleavage Factor I), CF IIm (Cleavage Factor II), PAP (Poly(A) polymerase) and PABP2 (PolyA Binding Protein 2). Most of the proteins involved in this finely orchestrated process have been purified and extensively studied (Wahle and Rüegsegger, 1999). CPSF consists of four subunits of 160, 100, 73 and 30 kDa. The exact function of the 100-kDa CPSF subunit is still unknown, while its presence is essential for the maturation process (Jenny et al., 1994). The full length of the human CPSF 100-kDa subunit cDNA was cloned by Nagase et al. (2000) (GenBank accession number AB037788.1), while its bovine homologue was cloned by Jenny et al. (1994) (GenBank accession number X75931).","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":"90 3-4","pages":"328-9"},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000056798","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21946445","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: 4

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

引用次数: 6

X;Y translocation revealed by chromosome microdissection and FISH in fertile XY females in the Brazilian rodent Akodon montensis. 染色体显微解剖和FISH在巴西啮齿动物Akodon montensis的可育XY雌性中发现的X;Y易位。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015504

V Fagundes, A U Christoff, J Scalzi-Martin, J Hozier, C A Moreira-Filho, Y Yonenaga-Yassuda

{"title":"X;Y translocation revealed by chromosome microdissection and FISH in fertile XY females in the Brazilian rodent Akodon montensis.","authors":"V Fagundes, A U Christoff, J Scalzi-Martin, J Hozier, C A Moreira-Filho, Y Yonenaga-Yassuda","doi":"10.1159/000015504","DOIUrl":"https://doi.org/10.1159/000015504","url":null,"abstract":"In a Brazilian population of the neotropical rodent Akodon montensis we found five sex-reversed XY females. These animals were cytogenetically analyzed by chromosome painting using species-specific DNA probes from the Y chromosome, generated by chromosomal microdissection and subsequent use of the degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR). The results showed a chromosome complement with an apparently normal Y chromosome and an X chromosome carrying a translocation that encompasses a large portion of the Y chromosome (seemingly the entire Y). Ovarian histology suggested that these females are fertile. Amplification of the SRY HMG box sequence by PCR shows that at least one copy of the Sry gene is present in the A. montensis XY females. Based on our findings, we suggest that the breakpoint of the X;Y translocation probably altered an X-linked sex-determining locus (or loci), blocking testicular organogenesis in the XY females. Further studies are necessary to determine the precise location and role of this putative sex-determining chromosomal region. Genetic mechanisms of XY sex reversal in A. montensis populations are discussed.","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":"88 1-2","pages":"124-9"},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015504","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21623009","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: 13

Suppressor genes for malignant and anchorage-independent phenotypes located on human chromosome 9 have no dosage effects. 位于人类第9号染色体上的恶性和非锚定表型的抑制基因没有剂量效应。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015500

M Q Islam, K Islam

{"title":"Suppressor genes for malignant and anchorage-independent phenotypes located on human chromosome 9 have no dosage effects.","authors":"M Q Islam, K Islam","doi":"10.1159/000015500","DOIUrl":"https://doi.org/10.1159/000015500","url":null,"abstract":"We have previously shown that microcell-mediated transfer of a der(9)t(X;9) human chromosome (HSA), derived from human fibroblast strain GM0705, into the Syrian hamster cell line BHK-191-5C produced only near-tetraploid hybrids, although the recipient cell line contained a 1:1 ratio of near-diploid and near-tetraploid cells. However, the tumorigenicity and the anchorage independence could be suppressed in the near-tetraploid hybrids with one copy of the der(9)t(X;9) chromosome. The introduction of an HSA X chromosome did not suppress either of these phenotypes. We concluded that in addition to two suppressor genes, one for tumorigenicity and another for anchorage independence, HSA 9 might carry a third gene capable of inhibiting cellular growth in vitro, which had dosage effects. In the present study, keeping one copy of the der(9)t(X;9) chromosome, we have increased the hamster background chromosome number beyond hexaploid level by fusing two microcell-generated hybrid cell lines, where both malignant and anchorage-independent phenotypes were suppressed, with the parental malignant BHK-191-5C cell line. Tests with nude mice showed that hybrids containing one copy of the der(9)t(X;9) chromosome against the increased background of chromosomes of malignant parental origin were still suppressed for both phenotypes. These results suggest that the suppressor genes for malignancy and for anchorage independence have no dosage effects, in contrast to the suppressor gene(s) for cellular growth.","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":"88 1-2","pages":"103-9"},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015500","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21623005","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: 6

Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency. 谷氨酸甲氨基转移酶缺乏症候选基因21q22.3的克隆与鉴定

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015483

A Solans, X Estivill, S de la Luna

引用次数: 30

Assignment of the gene GRM1 coding for metabotropic glutamate receptor 1 to human chromosome band 6q24 by in situ hybridization. 代谢性谷氨酸受体1编码基因GRM1在人类染色体6q24带上的原位杂交。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015517

S Ganesh, K Amano, K Yamakawa

{"title":"Assignment of the gene GRM1 coding for metabotropic glutamate receptor 1 to human chromosome band 6q24 by in situ hybridization.","authors":"S Ganesh, K Amano, K Yamakawa","doi":"10.1159/000015517","DOIUrl":"https://doi.org/10.1159/000015517","url":null,"abstract":"Metabotropic glutamate receptors (mGluRs) are important modulators of synaptic transmission and have been implicated in epilepsy, neurotoxicity and neurodegenerative disorders (Schoepp and Conn, 1993). Based on amino acid sequence similarity and agonist selectivity, mGluRs are divided into three groups (Pin and Duvoisin, 1995). Subtype mGluR1 classified as group I has been shown to stimulate the phosphoinositide hydrolysis pathway (Schoepp and Conn, 1993). Mice lacking the mGluR1 gene develop ataxic gait and intention tremor (Aiba et al., 1994). Previously, the human gene for mGluR1 (GRM1) was mapped on chromosome 6 by Southern hybridization using human/rodent somatic cell hybrids (Stephan et al., 1996) and radiation hybrid mapping placed this gene between the markers D6S453 and D6S311, about a 4-cM interval on 6q (G3 Map; www.ncbi.nlm.nih.gov/genemap99). Chromosome band 6q24 contains one of the loci for schizoaffective disorder (Kaufmann et al., 1998) and also the locus for Lafora type epilepsy (Sainz et al., 1997). Using a BAC/YAC based physical map constructed for the 6q24 region (Ganesh et al., unpublished) we refined the chromosome position of GRM1. We show that GRM1 is located on chromosome band 6q24, near the genetic marker D6S1480 but distal to EPM2A, a gene recently shown to be involved in Lafora disease (Minassian et al., 1998). Interestingly, GRIK2, the gene for ionotropic glutamate receptor kainate 2, is also located on 6q, at 6q16.3→q21 (Paschen et al., 1994). Materials and methods","PeriodicalId":10982,"journal":{"name":"Cytogenetics and cell genetics","volume":"88 3-4","pages":"314-5"},"PeriodicalIF":0.0,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000015517","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21673116","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: 6

Assignment of mimecan gene (OGN) to human chromosome band 9q22 by in situ hybridization. mimecan基因(OGN)在人染色体9q22带的原位杂交。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015521

E S Tasheva, M Pettenati, C Von Kap-Her, G W Conrad

引用次数: 15

Identification and mapping of swine cyclin-dependent kinase inhibitor CDKN2A and CDKN2B exon 2 sequences. 猪周期蛋白依赖性激酶抑制剂CDKN2A和CDKN2B外显子2序列的鉴定和定位。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015527

C Le Chalony, H Hayes, G Frelat, C Geffrotin

引用次数: 5

Chromosome mapping of the human genes encoding the MAP kinase kinase MEK1 (MAP2K1) to 15q21 and MEK2 (MAP2K2) to 7q32. 人类基因编码MAP激酶MEK1 (MAP2K1)至15q21和MEK2 (MAP2K2)至7q32的染色体定位。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015530

S Meloche, K Gopalbhai, B G Beatty, S W Scherer, J Pellerin

引用次数: 7