Cytogenetics and cell genetics最新文献_第3页

Assignment of the canine paired-box 3 (PAX3) gene to chromosome 37q16-->q17 by in situ hybridization. 犬PAX3基因在37q16- >q17染色体上的原位杂交。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015664

A Krempler, M Breen, B Brenig

引用次数: 10

Thirteen type I loci from HSA4q, HSA6p, HSA7q and HSA12q were comparatively FISH-mapped in four river buffalo and sheep chromosomes. 来自HSA4q、HSA6p、HSA7q和HSA12q的13个I型位点在水牛和绵羊的4条染色体上进行了fish定位。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015642

G P Di Meo, A Perucatti, L Schibler, D Incarnato, L Ferrara, E P Cribiu, L Iannuzzi

引用次数: 17

Mini review: form and function in the human interphase chromosome. 简要回顾:人类间期染色体的形态和功能。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015654

E Chevret, E V Volpi, D Sheer

引用次数: 44

The human inward rectifier K(+) channel subunit kir5.1 (KCNJ16) maps to chromosome 17q25 and is expressed in kidney and pancreas. 人类内向的K(+)通道亚基kir5.1 (KCNJ16)定位于染色体17q25，在肾脏和胰腺中表达。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015662

Y Liu, E McKenna, D J Figueroa, R Blevins, C P Austin, P B Bennett, R Swanson

引用次数: 22

Assignment of the 160-kDa subunit of cleavage and polyadenylation specificity factor (CPSF1) to human chromosome 8q24.23 by radiation hybrid mapping. 通过辐射杂交定位将160 kda的切割和多腺苷化特异性因子(CPSF1)亚基定位到人类染色体8q24.23。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000056776

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

{"title":"Assignment of the 160-kDa subunit of cleavage and polyadenylation specificity factor (CPSF1) to human chromosome 8q24.23 by radiation hybrid mapping.","authors":"M Samiotaki, N A Balatsos, N Courtis, C M Tsiapalis","doi":"10.1159/000056776","DOIUrl":"https://doi.org/10.1159/000056776","url":null,"abstract":"Eukaryotic mRNA precursors are processed at their 3) ends by the tightly coupled cleavage and polyadenylation reactions, resulting in the addition of the poly(A) tail. Cleavage and Polyadenylation Specificity Factor (CPSF) plays a key role in both these reactions and consists of four subunits of 160, 100, 73 and 30 kDa (Wahle and Kuhn, 1997). 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) are parts of a multicomponent complex sufficient to complete the 3) processing reactions. The largest 160kDa CPSF subunit binds to the highly conserved polyadenylation signal (AAUAAA) located upstream of the cleavage site (Keller et al., 1991). It also interacts directly with the 77-kDa subunit of the CstF and with PAP (Wahle and Rüegsegger, 1999). The full length of the human CPSF 160-kDa subunit cDNA (accession number U37012) was cloned by Murthy and Manley (1995), while the bovine homologue was cloned by Jenny and Keller (1995) (accession number AAC50293). A pseudogene of the CPSF1 gene has been assigned to chromosome 22 (Dunham et al., 1999). Materials and methods","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/10.1159/000056776","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21946198","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: 2

Cloning, expression analysis and chromosome mapping of human casein kinase 1 gamma1 (CSNK1G1): identification of two types of cDNA encoding the kinase protein associated with heterologous carboxy-terminal sequences. 人酪蛋白激酶1 - gamma1 (CSNK1G1)的克隆、表达分析及染色体定位:鉴定与异源羧基末端序列相关的两种激酶蛋白cDNA。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000056792

J Kusuda, M Hirai, R Tanuma, K Hashimoto

{"title":"Cloning, expression analysis and chromosome mapping of human casein kinase 1 gamma1 (CSNK1G1): identification of two types of cDNA encoding the kinase protein associated with heterologous carboxy-terminal sequences.","authors":"J Kusuda, M Hirai, R Tanuma, K Hashimoto","doi":"10.1159/000056792","DOIUrl":"https://doi.org/10.1159/000056792","url":null,"abstract":"Casein kinase 1 gamma1(CK1 gamma1) is known to be involved in the growth and morphogenesis of eukaryotic cells. We have isolated two types of cDNA for human casein kinase 1 gamma1 (hCK1 gamma1). One of them (hCK1 gamma1S) was found to encode a polypeptide consisting of 393 amino acids, which is highly homologous with already reported rat CK1 gamma1 (rCK1 gamma1). The other type of cDNA (hCK1 gamma1L) encodes a polypeptide consisting of 422 amino acids, which is quite identical in the kinase domain, but different in the C-terminal sequence from hCK1 gamma1S. Namely, hCK1 gamma1L has a characteristic sequence of 50 amino acids at the C-terminal end and this motif was shown to be shared by the casein kinase gamma2 and gamma3 from rat and human, suggesting that it is a signature sequence of the gamma-isoforms. In this sense, newly isolated hCK1 gamma1L might be the original form of CK1 gamma1 subspecies rather than rCK1 gamma1 and hCK1 gamma1S. RT-PCR analysis revealed that hCK1 gamma1S mRNA is predominantly present in the testis, whereas the abundance of hCK1 gamma1L mRNA was nearly the same in the twelve tissues examined. These results suggest that novel hCK1 gamma1L may have a unique functional role different from that of hCK1 gamma1S and rCK1 gamma1. The human hCK1 gamma1 gene (CSNK1G1) was mapped to chromosome 15q22.1-->q22.31 by fluorescence in situ hybridization.","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/10.1159/000056792","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21947042","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: 9

Gamete segregation in female carriers of Robertsonian translocations. 罗伯逊易位女性携带者的配子分离。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000056793

S Munné, T Escudero, M Sandalinas, D Sable, J Cohen

{"title":"Gamete segregation in female carriers of Robertsonian translocations.","authors":"S Munné, T Escudero, M Sandalinas, D Sable, J Cohen","doi":"10.1159/000056793","DOIUrl":"https://doi.org/10.1159/000056793","url":null,"abstract":"Eleven female carriers of either 45,XX,der(13;14) (q10;q10) or 45,XX, der(14;21)(q10;q10) underwent hormonal stimulation with the purpose of producing enough oocytes for in-vitro fertilization and preimplantation genetic diagnosis. Polar body biopsy was performed in those oocytes and FISH with painting probes was applied in their metaphase-like first polar body chromosomes. In this way, unbalanced, normal and balanced oocytes could be distinguished and segregation modes ascertained. der(14;21)(q10;q10) produced 42% unbalanced, 37% normal and 21% balanced oocytes (n = 86) while der(13;14)(q10;q10) generated 33% unbalanced, 51% normal and 16% balanced oocytes (n = 69). In both translocations the number of normal oocytes was significantly higher than the number of balanced oocytes. However, while the frequency of unbalanced events involving chromosome 13 and 14 was similar in der(13;14)(q10;q10), there were significantly more abnormalities involving chromosome 21 than 14 in the der(14;21) (q10;q10) cases. When comparing survival rates to term, trisomies from Robertsonian origin seem to survive more often than those originated by non-disjunction in non-translocation carriers. The meiotic segregation patterns found in female Robertsonian translocations are different from those described in male carriers, with higher rates of unbalanced gametes in females than in males.","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/10.1159/000056793","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21947043","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: 60

Localization by FISH of the 31 Texas nomenclature type I markers to both Q- and R-banded bovine chromosomes. 31个德州命名法I型标记在牛染色体上的FISH定位。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000056795

H Hayes, G P Di Meo, M Gautier, P Laurent, A Eggen, L Iannuzzi

{"title":"Localization by FISH of the 31 Texas nomenclature type I markers to both Q- and R-banded bovine chromosomes.","authors":"H Hayes, G P Di Meo, M Gautier, P Laurent, A Eggen, L Iannuzzi","doi":"10.1159/000056795","DOIUrl":"https://doi.org/10.1159/000056795","url":null,"abstract":"A series of 31 marker genes (one per chromosome) were localized precisely to both Q- and R-banded bovine chromosomes by fluorescence in situ hybridization (FISH), as a contribution to the revised chromosome nomenclature of the three major domestic bovidae (cattle, sheep and goat). All marker genes except one (LDHA) are taken from the Texas Nomenclature of the cattle karyotype published in 1996. Homologous probes for each marker gene were obtained by screening a bovine BAC library by PCR with specific primer pairs. After labeling with biotin, each probe preparation was divided into two fractions and hybridized to bovine chromosomes identified either by Q or R banding. Clear signals and good quality band patterns were observed in all cases. Results of the two series of hybridizations are totally concordant both for Q and R band chromosome numbering and precise band localization. This work permits an unambiguous correlation between the Q/G- and R-banded 31 bovine chromosomes, including chromosomes 25, 27 and 29 which remained unresolved in the Texas Nomenclature (1996). Hybridization of the chromosome 29 marker gene to metaphase spreads from a 1;29 Robertsonian translocation bull carrier showed a positive signal on the short arm of this rearranged chromosome, confirming that the numbering of this long-known translocation in cattle is correct when referring to the Texas Nomenclature (1996). Taking into account that cattle, goat and sheep have very similar banded karyotypes, the data presented here will help to establish a definite and complete reference chromosome nomenclature for these species.","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/10.1159/000056795","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21947045","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: 36

Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene. Sloughi犬的全身性进行性视网膜萎缩是由于PDE6B基因外显子21上有8个bp的插入。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000056785

G Dekomien, M Runte, R Gödde, J T Epplen

{"title":"Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene.","authors":"G Dekomien, M Runte, R Gödde, J T Epplen","doi":"10.1159/000056785","DOIUrl":"https://doi.org/10.1159/000056785","url":null,"abstract":"We investigated the gene encoding the beta subunit of cGMP phosphodiesterase (PDE6B) as a candidate for generalized progressive retinal atrophy (gPRA), an autosomal recessively transmitted eye disease in dogs. The PDE6B gene was isolated from a genomic library. Single-strand conformation polymorphism analysis revealed eight intronic variations in different subsets of the 14 dog breeds investigated. In addition, we identified an 8-bp insertion after codon 816 in certain Sloughi dogs. Analysis of PRA-affected and obligatory carrier Sloughis showed that this mutation cosegregates with disease status in a large pedigree. All other exchanges identified were not located in functionally relevant parts of the gene (e.g., in the splice signal consensus sites). In most dog breeds (Labrador retriever, Tibetan mastiff, dachshund, Tibetan terrier, miniature poodle, Australian cattle dog, cocker spaniel, collie, Saarloos wolfhound, Chesapeake Bay retriever, and Yorkshire terrier), PDE6B was excluded as a candidate gene for gPRA because heterozygous allele constellations were detected in diseased animals. Therefore, the PDE6B sequence variations did not segregate together with the mutation(s) causing gPRA. Direct and indirect DNA tests concerning gPRA can be offered now for a variety of different dog breeds.","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/10.1159/000056785","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21947237","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: 69

Assignment of the rat calcineurin inhibitor gene (Cain) to rat chromosome band 20p12 by fluorescence in situ hybridization. 用荧光原位杂交技术将大鼠钙调磷酸酶抑制剂基因(Cain)定位到大鼠染色体20p12带。

Cytogenetics and cell genetics Pub Date : 2000-01-01 DOI: 10.1159/000015622

H Kim, Y K Jung, D G Jo, S H Park

{"title":"Assignment of the rat calcineurin inhibitor gene (Cain) to rat chromosome band 20p12 by fluorescence in situ hybridization.","authors":"H Kim, Y K Jung, D G Jo, S H Park","doi":"10.1159/000015622","DOIUrl":"https://doi.org/10.1159/000015622","url":null,"abstract":"Calcineurin is a serine/threonine protein phosphatase activated by calcium and calmodulin (Klee et al., 1988). It mediates the immunosuppressive actions of drugs such as cyclosporin and FK506 (Liu et al., 1991; Friedman and Weissman, 1991), and has diverse roles in calcium sensitive pathways in the nervous system, including regulation of neurotransmitter release (Lieberman and Mody, 1994; Tong et al., 1995) and modulation of long-term changes in synaptic plasticity (Yakel, 1997). Cain (calcineurin inhibitor) is a most potent endogeneous inhibitor of calcineurin and in its physiological role is suspected to provide a docking site for calcineurin in its inactive form (Lai et al., 1998). Recently, full-length Cain cDNA has been cloned from rat brain cDNA library (Lai et al., 1998). In this paper, we localized the rat gene Cain to rat chromosome band 20p12 by fluorescence in situ hybridization. Fig. 1. Chromosomal localization of Cain to rat chromosome 20p12. (A) Fluorescent signals on chromosomes 20p12 as indicated by arrowheads. (B) Ideogram of rat chromosome 20 (Szpirer et al., 1996), showing the location of Cain.","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/10.1159/000015622","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21800136","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