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At least 649 records · Page 36Linked to original sources
PubMed1996

Chromosome mapping of the GD3 synthase gene (SIAT8) in human and mouse.

GD3 synthase (CMP-NeuAc:NeuAc alpha 2-3Gal beta 1-4Glc beta 1-1'Cer alpha 2,8-sialyltransferase) is a member of the sialyltransferase family, whose members are characterized by having the sialyl motif and a key regulatory enzyme that controls the ganglioside biosynthesis pathway. The chromosomal location of the GD3 synthase gene (SIAT8) was determined in human and mouse using fluorescence in situ hybridization and interspecific backcross analysis, respectively. The human GD3 synthase gene was mapped to p12.1-p11.2 of chromosome 12. The mouse homologue was mapped 2.8 cM distal to D6Mit52 and 4.3 cM proximal to D6Mit25; this region is syntenic to the short arm of human chromosome 12.

Animals↗
PubMed1995

Molecular cloning of a human protein that binds to the retinoblastoma protein and chromosomal mapping.

We have isolated distinct clones for cellular proteins that bind to the retinoblastoma protein by direct screening of cDNA expression libraries using purified pRB as a probe. The total nucleotide sequence of one of these clones, RBQ-3, was determined and found to encode a protein of 66 kDa localized in the nucleus. The RBQ-3 preferentially binds to underphosphorylated pRB. The region used for binding to this protein was mapped to the E1A-binding pocket B of pRB, which has sequence similarity to the general transcription factor TFIIB. We have mapped the gene to 1q32 using polymerase chain reaction analysis on a human-hamster hybrid cell panel and chromosomal fluorescence in situ hybridization.

Amino Acid Sequence↗
PubMed1997

Cloning, characterization, and chromosomal mapping of a phospholipase (lecithinase) produced by Vibrio cholerae.

Phospholipases are associated with virulence in bacterial diseases. Vibrio cholerae produces a phospholipase (lecithinase), with enzyme production visualized as a zone of clearing around colonies plated on egg yolk agar. The role of phospholipase in gut colonization or disease pathogenesis is unknown. We used the egg yolk agar assay to clone and characterize a gene encoding a phospholipase from V. cholerae El Tor strain E7946. Sequence analysis revealed a 1,254-bp open reading frame (lec) encoding a 418-amino-acid protein with a predicted molecular weight of 47,600. The predicted sequence exhibits DNA homology to other Vibrionaceae phospholipases. A potential signal sequence exists in the predicted amino acid sequence, as does a lipid binding motif found in prokaryotic and eukaryotic phospholipases and lipases. Polyacrylamide gel electrophoresis combined with an egg yolk agarose overlay demonstrated phospholipase activity migrating at a relative molecular weight of 45,000 in preparations of V. cholerae and the Escherichia coli clone. Restriction mapping and Southern blot analysis revealed that lec, hlyA (hemolysin), and hlyC (lipase) are adjacent on the V. cholerae chromosome, and chromosomal digests of several El Tor, classical, and O139 (Bengal) strains demonstrated conservation of this gene arrangement. An in-frame internal deletion of the lec gene was constructed and recombined into the chromosome of attenuated V. cholerae El Tor strain CVD 110. The resulting mutant lacked lecithinase activity on egg yolk agar but had undiminished reactivity in rabbit ligated ileal loop assays.

Amino Acid Sequence↗
PubMed1988

Developmental characterization and chromosomal mapping of the 5-azacytidine-sensitive fluF locus of Aspergillus nidulans.

In Aspergillus nidulans, a fungus that possesses negligible, if any, levels of methylation in its genome, low concentrations of 5-azacytidine (5-AC) convert a high percentage of the cell population to fluffy phenotypic variants through a heritable modification of a single nuclear gene (M. Tamame, F. Antequera, J. R. Villanueva, and T. Santos, Mol. Cell. Biol. 3:2287-2297, 1983). This new 5-AC-altered locus, designated here fluF1, was mapped as the closest marker to the centromere that has been identified so far on the right arm of chromosome VIII. Of all mutagens tested, only 5-AC induced the fluffy phenotype with a significant frequency. Furthermore, we determined that the wild-type, dominant allele of the fluF gene was primarily accessible to modification by 5-AC at the initial stages of fungal vegetative growth. These results indicated that 5-AC does not act through random mutagenic action but, rather, that fluF constitutes a specific target for this drug during a well-defined period of fungal development. Alteration of fluF by 5-AC resulted in a dramatic modification of the developmental program of A. nidulans. The resulting fluffy clones were characterized by massive, uncontrolled proliferation of undifferentiated hyphae, a drastic delay in the onset of asexual differentiation (conidiation), and colonies with an invasive nature. These features are reminiscent of the malignant properties of tumor cells. We propose that the locus fluF plays a primary role in the control of cell proliferation in A. nidulans and that its alteration by 5-AC produces pleiotropic modifications of the developmental program of this fungus.

Aspergillus nidulans↗
PubMed1997

Chromosomal mapping of genes in the RBCS family in Arabidopsis thaliana.

In Arabidopsis thaliana, four genes have been identified in the RBCS gene family, one being assigned to subfamily RBCS-A and the other three to subfamily RBCS-B (1B, 2B and 3B). To determine the chromosomal location of these genes, hybridization analysis with CIC YAC high-density filters was carried out for the RBCS-A gene, and CAPS analysis for the three RBCS-B genes, based on the finding that restriction fragment length polymorphism is present in the upstream region of the gene RBCS-3B. The RBCS-A gene was mapped at 100.8 cM from the top of chromosome 1 and the three RBCS-B genes at 62.70 cM from the top of chromosome 5.

Arabidopsis↗
PubMed2004

[Chromosomal mapping of chicken MC4R using a radiation hybrid panel and the comparative analysis of the gene homologous regions between chicken and human chromosome].

Mutations of the melanocortin-4 receptor (MC4R) are associated with hyperphagia, obesity, and accelerated longitudinal growth in pig, mice and human. However, little is known about the functions of this gene in chicken. To map the MC4R gene in Chicken chromosome, we used a 6000 rads chicken-hamster radiation hybrid panel (ChikenRH6). PCR of samples from the ChikenRH6 revealed the location of the MC4R gene to be nearby markers MCW0062, BCL2 and OVY on chromosome 2q12. Five markers were placed into a single linkage group based on two-point analysis with a LOD score of greater than 5. At the same time, the MC4R gene was selected as marker to compare DNA sequence between chicken and human chromosome. The result shows there are the same homologous regions between chicken chromosome 2 (GGA2) and human chromosome 18 (HSA18), and we found that the genes BCL2 and obesity are located in the near regions of MC4R on human chromosome 18. So we can reduce that the chicken MC4R gene maybe there are the same functions with the human MC4R gene. Overall, this work reveals widespread chromosome rearrangements of MC4R between chicken and human genomes, and mappings the chicken MC4R gene on 2q12 by a RH panel.

Animals↗
PubMed1993

Barley embryo globulin 1 gene, Beg1: characterization of cDNA, chromosome mapping and regulation of expression.

We report identification of a 2189 bp cDNA clone from barley corresponding to a single-copy gene, Beg1 (Barley embryo globulin), on chromosome 4, which encodes a storage globulin. In barley, the major protein reserve in the aleurone layer belongs to the 7S globulin class of proteins found in many seeds. Electrophoretically and antigenically similar proteins are present in the barley embryo. Accumulation of Beg1 mRNA was noted beginning 15-20 days post-anthesis in both the aleurone layer and embryo of the developing barley grain but not in the starchy endosperm. A high level of Beg1 mRNA is also present in the mature imbibed aleurones, which can be repressed by treatment with gibberellic acid. This repressive effect of gibberellin on the levels of Beg1 mRNA is confirmed in the gibberellin response-constitutive mutant, slender, whose aleurone layers do not accumulate Beg1 mRNA even in the absence of applied gibberellic acid. The deduced primary translation product of the Beg1 mRNA is a 63.7 amino acid (72 kDa) protein with homology to maize embryo globulin 1 (GLB1) and a partial sequence of a wheat 7S globulin. The internal amino acid sequence of BEG1 closely matches the N-terminal sequence of isolated barley aleurone globulin. Seven imperfect tandem repeats of 16 amino acids each are present near the N-terminus of BEG1, which conform to the consensus HGEGEREEEXGRGRGR, and contribute to the observed unusual amino acid composition of this protein. A second, distinct barley globulin gene, Beg2, which is homologous to maize Glb2, was detected by Northern and Southern analysis. Beg2 and Beg1 are regulated differently which may indicate variation in storage or utilization properties among the barley globulins.

Abscisic Acid↗
PubMed1995

Chromosome mapping of Rmp-4, a gonad-dependent gene encoding host resistance to mousepox.

DBA/2 (D2) mice are susceptible and C57BL/6 (B6) mice are resistant to lethal mousepox. A congenic resistant strain, D2.B6-Rmp-4r (D2.R4), was developed by serially backcrossing male mice that survived ectromelia virus infection with D2 mice, beginning with (B6 x D2)F1 mice. Male D2.R4 mice were at least 300-fold more resistant to lethal mousepox than male D2 mice. Female D2.R4 mice were 100-fold more resistant than male D2.R4 mice and 500-fold more resistant than female D2 mice. Neonatal gonadectomy prevented development of resistance in D2.R4 mice of both sexes. Differences in resistance between strains and between sexes correlated with restriction of virus replication in spleen and liver, but gender differences were less evident in liver than in spleen. High-resolution interval mapping of the 19 autosomes of D2.R4 mice using dispersed informative microsatellites as marker loci revealed a segment of distal chromosome 1 to be of B6 origin. Haplotypes for a marker locus, D1Mit57, from the differential segment were determined in (D2.R4 x D2)F1 x D2 backcross mice, which were then infected with ectromelia virus. Significantly more heterozygotes than homozygotes survived ectromelia virus infection in both sexes. Whereas nearly all surviving males were heterozygotes, 44% of surviving females were homozygotes. These results indicate that resistance in D2.R4 mice is determined by a gonad-dependent gene on distal chromosome 1, provisionally named Rmp-4, and by an ovary-dependent factor that is not genetically linked to Rmp-4.

Animals↗
PubMed1992

Molecular cloning and chromosomal mapping of a cDNA encoding human 80K-L protein: major substrate for protein kinase C.

We have isolated and sequenced complementary DNA (cDNA) for the human 80K-L protein, a major substrate for protein kinase C and the human homologue of an 80- to 87-kDa bovine protein named MARCKS (myristoylated alanine-rich C kinase substrate). The human 80K-L cDNA encodes a protein of 332 amino acids with a calculated molecular weight of 31,534. Homology comparisons of the nucleotide sequences of the cDNAs indicated that their 3'-untranslated regions are more homologous than the coding regions. Spot blot hybridization using flow-sorted human chromosomes indicated that the gene encoding the 80K-L protein, designated MACS, maps to the q15----qter region of human chromosome 6, and it also suggested that a genomic region with a sequence homologous to the 3'-untranslated region of the 80K-L mRNA exists on chromosome 21.

Amino Acid Sequence↗
PubMed1993

Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes.

Fluorescence in situ hybridization (FISH) experiments were performed using genomic and complementary DNA probes in order to determine the location on human chromosomes for five genes expressed in cardiac and skeletal muscle sarcoplasmic reticulum. The chromosome location of each gene was determined in terms of both cytogenetic bands and fractional chromosome length. The ATP2A2 gene, expressing the SERCA2 isoform of the Ca2+ pump, maps to bands 12q23-q24.1, the phospholamban gene (PLN) to 6q22.1, the human skeletal muscle calsequestrin gene (CASQ1) to band 1q21, the cardiac calsequestrin gene (CASQ2) to bands 1p11-p13.3, and the cardiac calcium release channel gene (RYR2) to the interval between band 1q42.1 (distal) and band 1q43 (proximal).

Adenosine Triphosphatases↗
PubMed1986

N-band proteins of nucleolar organizers: chromosomal mapping, subnucleolar localization and rDNA binding.

The ribosomal DNA(rDNA)-containing chromatin in eukaryotes forms a unique architecture called the "secondary constriction" or "nucleolus organiser region (NOR)" on mitotic chromosomes. To gain more insight into non-histone chromosomal proteins (NHCP), termed "N-band proteins", that are specifically associated with the NOR in a wide variety of eukaryotes, we attempted to: identify the NHCP responsible for N-band staining; determine their stoichiometry; map them on metaphase chromosomes; determine their subnucleolar localization and examine their possible ability to bind rDNA. Based on several criteria, including chromosomal localization, solubility, association with chromatin, and intra-nuclear localization, two of the nucleolus-rich NHCP, termed component B of mol.wt 55,000 and component C of mol.wt. 41,000, were tentatively identified as N-band proteins. Immunological studies using a polyclonal, monospecific antibody raised against component C show that this protein is in fact associated with the chromosomal telomeres where NORs are located. In nucleoli, N-band proteins appear to be compartmentalized into a structure that probably corresponds to fibrillar components. Both components B and C are among several NHCPs that showed, under in vitro conditions, a strong affinity for rDNA cloned in lambda phage but not for calf thymus genomic DNA or phage vector DNA. The antibody against component C effectively suppressed in vitro transcription by RNA polymerase I in nucleoli and nucleolar chromatin. Component C appears to exist in the nucleus at 3.75-5.13 X 10(3) copies per rDNA unit or 0.09-0.13 copy per nucleotide. These findings support the hypothesis that the NOR is a chromosomal site, architecturally not only unique but also different from other chromatin regions in that constituent DNA, i.e., rDNA, is organized in a specific manner by interacting with specific NHCP, i.e., N-band proteins.

Animals↗
PubMed1992

Chromosome mapping of the rod photoreceptor cGMP phosphodiesterase beta-subunit gene in mouse and human: tight linkage to the Huntington disease region (4p16.3).

The retinal degeneration mouse (gene symbol, rd) is an animal model for certain forms of human hereditary retinopathies. Recent findings of a nonsense mutation in the rd mouse PDE beta-subunit gene (Pdeb) prompted us to investigate the chromosome locations of the mouse and human genes. We have utilized backcross analysis in mice to verify and define more precisely the location of the Pdeb locus 6.1 +/- 2.3 cM distal of Mgsa on mouse chromosome 5. We have determined that the human gene (PDEB) maps to 4p16.3, very close to the Huntington disease (HD) region. Analysis of the comparative map for mice and humans shows that the mouse homologue of the HD gene will reside on chromosome 5. Linkage of the mouse Pdeb locus with other homologues in the human 4p16.3 region is maintained but gene order is not, suggesting at least three possible sites for the corresponding mouse HD gene.

3',5'-Cyclic-GMP Phosphodiesterases↗
PubMed1998

Structure/function characterization of porcine CD59: expression, chromosomal mapping, complement-inhibition, and costimulatory activity.

BACKGROUND: Complement regulatory proteins have become important targets to potentially modulate inflammatory reactions or transplant rejection. Since pig into human xenotransplantation could potentially overcome the enormous shortage of donor organs and tissues, characterization of porcine complement regulatory proteins is critical. METHODS: The porcine CD59 cDNA has been isolated from porcine aortic endothelial cells and its structure determined. In addition, a molecular genetic analysis of the gene and its transcriptional properties and a functional analysis have been performed utilizing the transfected cDNA. RESULTS: The most prominent mRNA species is 1.8 kilobases but cloned reverse transcriptase polymerase chain reaction products suggest that multiple polyadenylation sites are utilized. Gene mapping was performed utilizing a polymorphism identified in the 3' UT, and the gene was localized to within 3 cM of follicle-stimulating hormone, beta polypeptide in the middle of the chromosome 2 linkage map. RNA expression was equivalent in endothelial, kidney, and testis cell lines. Comparisons have been made with CD59 sequences from other species to identify possible important domains of the protein. The cDNA has been utilized to express an epitope-tagged or wild-type protein either transiently on COS-7 cells or stably in Chinese hamster ovary cells. The porcine CD59 protein effectively inhibited the antibody-mediated lytic activity of both porcine and human complement. In contrast to human CD59, porcine CD59 is incapable of providing costimulation to human T cells. CONCLUSIONS: These data suggest that overexpression of porcine CD59 might be more effective than human CD59 in prolonging xenograft survival with transgenic pig organs because of reduced immunoreactivity.

Amino Acid Sequence↗
PubMed1993

Chromosomal mapping of the human CNP gene using a meiotic crossover DNA panel, PCR, and allele-specific probes.

The human 2',3'-cyclic nucleotide 3'-phosphohydrolase (CNP) gene is located on chromosome 17, as determined by PCR of somatic cell hybrid DNA panels and confirmed using a mouse-human hybrid containing only human chromosome 17. A polymorphic site (C, T) was previously described at nucleotide 1215 within the most 3' intron of the gene. Nested PCR primer pairs were designed to amplify across this site, and PCR products were hybridized to end-labeled allele-specific probes. To localize further the CNP gene within chromosome 17, a two-step strategy was used. First, dot blots containing DNA from the parents of 10 three-generation families were screened to identify the potentially informative families. Second, 53 members of four selected families were typed at this locus. Previous studies had shown that the 29 siblings present in these four families carry a total of 84 meiotic breakpoints on chromosome 17. Based on the genotypes observed in these 29 siblings, the human CNP gene was localized to a fragment on 17q bounded by THRA1 (thyroid receptor A1) and NGFR (nerve growth factor receptor), a genetic distance of approximately 6 cM.

2',3'-Cyclic Nucleotide 3'-Phosphodiesterase↗
PubMed2003

Ngly1, a mouse gene encoding a deglycosylating enzyme implicated in proteasomal degradation: expression, genomic organization, and chromosomal mapping.

In species as diverse as yeast and mammals, peptide:N-glycanase (PNG1 in yeast; Ngly1 in mouse) is believed to play a key role in the degradation of misfolded glycoproteins by the proteasome. In this study, we report the genomic organization and mRNA distribution of the mouse Ngly1. Mouse Ngly1 spans 61kb and is composed of 12 exons, the organization of which is conserved throughout vertebrates. Comparison of the mouse and human genomic sequence identifies a conserved gene structure with significant sequence similarity extending into introns. A 2.6kb Ngly1 message was detected in all mouse tissues examined, with the highest abundance in the testis. In addition, a lower molecular weight transcript of 2.4kb was detected in the testis. From analysis of dbESTs the alternative transcript of Ngly1 is predicted to be present in the human placenta. Given the key role Ngly1 plays in glycoprotein degradation, we predict that Ngly1 may be a contributing factor in "disease" susceptibility. To begin to address this question, we used radiation hybrid mapping to localize mouse Ngly1 to chromosome 14 and the human orthologue to chromosome 3 with a strong link with known genes.

Amidohydrolases↗
PubMed1992

Chromosome mapping of Soa, a gene influencing gustatory sensitivity to sucrose octaacetate in mice.

Strain distribution patterns among recombinant inbred strains suggested that a locus influencing taste sensitivity to sucrose octaacetate was on chromosome 6. A location for Soa was established by linkage analysis of behavioral and electrophoretic data from outbred and congenic strains and from test-cross progeny. Haplotyping of 41 outbred CFW-Cr animals with a cDNA probe showed perfect cosegregation of Soa and Prp, a gene for salivary proline-rich proteins. Five of twelve B6.SW-Soaa strains were found to retain Ldr-1, lactate dehydrogenase regulator-1, on chromosome 6 as an allelic passenger from the SWR/J donor strain (source of the Soaa Taster allele). Centimorgan distance was estimated using the ABP/Le linkage-testing strain (non-Taster, Soab) and the SWR/J strain (Taster, Soaa) in a testcross breeding system. The data are consistent with a position for the Soa locus on mouse chromosome 6, 62 cM from the centromere.

Animals↗