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Results: 471 to 479 of 479

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Highly polymorphic (GT)n repeat sequence in intron II of the human MAOB gene.
Konradi C, Ozelius L, Breakefield XO
(1992) Genomics 12: 176-7
MeSH Terms: Alleles, Base Sequence, DNA, Female, Humans, Introns, Male, Molecular Sequence Data, Monoamine Oxidase, Polymorphism, Genetic, Repetitive Sequences, Nucleic Acid, X Chromosome
Added May 27, 2014
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12 MeSH Terms
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP
(1991) Cell 65: 905-14
MeSH Terms: Alleles, Amino Acid Sequence, Base Sequence, Blotting, Northern, Brain, Cosmids, DNA, Exons, Fragile X Mental Retardation Protein, Fragile X Syndrome, Gene Library, Gene Rearrangement, Genetic Variation, Humans, Molecular Sequence Data, Nerve Tissue Proteins, Oligonucleotide Probes, Polymerase Chain Reaction, RNA, RNA-Binding Proteins, Recombination, Genetic, Repetitive Sequences, Nucleic Acid, Restriction Mapping, Translocation, Genetic, X Chromosome
Show Abstract · Added February 20, 2014
Fragile X syndrome is the most frequent form of inherited mental retardation and is associated with a fragile site at Xq27.3. We identified human YAC clones that span fragile X site-induced translocation breakpoints coincident with the fragile X site. A gene (FMR-1) was identified within a four cosmid contig of YAC DNA that expresses a 4.8 kb message in human brain. Within a 7.4 kb EcoRI genomic fragment, containing FMR-1 exonic sequences distal to a CpG island previously shown to be hypermethylated in fragile X patients, is a fragile X site-induced breakpoint cluster region that exhibits length variation in fragile X chromosomes. This fragment contains a lengthy CGG repeat that is 250 bp distal of the CpG island and maps within a FMR-1 exon. Localization of the brain-expressed FMR-1 gene to this EcoRI fragment suggests the involvement of this gene in the phenotypic expression of the fragile X syndrome.
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25 MeSH Terms
Type 1 fimbriation and fimE mutants of Escherichia coli K-12.
Blomfield IC, McClain MS, Princ JA, Calie PJ, Eisenstein BI
(1991) J Bacteriol 173: 5298-307
MeSH Terms: Alleles, Blotting, Southern, DNA, Bacterial, Enzyme-Linked Immunosorbent Assay, Escherichia coli, Fimbriae, Bacterial, Genotype, Mutation, Phenotype, Plasmids, Restriction Mapping
Show Abstract · Added May 20, 2014
We reexamined the influence of fimE, also referred to as hyp, on type 1 fimbriation in Escherichia coli K-12. We found that one strain used previously and extensively in the analysis of type 1 fimbriation, strain CSH50, is in fact a fimE mutant; the fimE gene of CSH50 contains a copy of the insertion sequence IS1. Using a recently described allelic exchange procedure, we transferred the fimE::IS1 allele from CSH50 to our present wild-type strain, MG1655. Characterization of this IS1-containing strain (AAEC137), together with another fimE mutant of MG1655 (AAEC143), led to two conclusions about the role of fimE. First, the formation of phase variant colony types, reported widely in strains of E. coli, depends on mutation of fimE, at least in K-12 strain MG1655. Here we showed that this phenomenon reflects the ability of fimE to stimulate the rapid inversion of the fim invertible element from on to off when the bacteria are grown on agar. Second, our analysis of fimE mutants, which is limited to chromosomal constructs, provided no evidence that they are hyperfimbriate. We believe that these results, which are at odds with a previous study using fim-containing multicopy plasmids, reflect differences in gene copy number.
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11 MeSH Terms
A dominant negative allele of p34cdc2 shows altered phosphoamino acid content and sequesters p56cdc13 cyclin.
Fleig UN, Gould KL, Nurse P
(1992) Mol Cell Biol 12: 2295-301
MeSH Terms: Alleles, Amino Acid Sequence, Amino Acids, Animals, CDC2 Protein Kinase, Cyclins, G2 Phase, Genes, Dominant, Genes, Fungal, Genes, Lethal, Humans, Hydroxylamine, Hydroxylamines, Molecular Sequence Data, Mutagenesis, Site-Directed, Phosphorylation, Restriction Mapping, Schizosaccharomyces, Sequence Homology, Nucleic Acid
Show Abstract · Added March 5, 2014
The cdc2 gene product, a 34-kDa phosphoprotein with serine/threonine protein kinase activity, has been implicated as the key component in the regulation of the eucaryotic cell cycle. Activation of the cdc2 protein kinase is regulated by its phosphorylation state and by interaction with other proteins. We have mutagenized the fission yeast cdc2 gene to obtain conditionally dominant negative alleles. One of these mutants, named DL2, is characterized in this report. Overexpression of the mutant protein in a wild-type cdc2 background is lethal and leads to arrest in the G2 phase of the cell cycle. The mutant phenotype is the result of a single amino acid change in the GDSEID motif of the protein, a region of identity in all cdc2 homologs, and results in a nonfunctional protein that shows an altered content of phosphothreonine. Multicopy suppressors of the dominant negative phenotype have been isolated, and one of these has been shown to encode the cdc13 cyclin B gene product.
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19 MeSH Terms
Reading-frame restoration with an apolipoprotein B gene frameshift mutation.
Linton MF, Pierotti V, Young SG
(1992) Proc Natl Acad Sci U S A 89: 11431-5
MeSH Terms: Alleles, Amino Acid Sequence, Animals, Apolipoproteins B, Base Sequence, DNA, Frameshift Mutation, Gene Expression, Genes, Humans, Hypobetalipoproteinemias, In Vitro Techniques, Molecular Sequence Data, Pedigree, RNA, Messenger, Rats, Transcription, Genetic, Tumor Cells, Cultured
Show Abstract · Added May 27, 2014
We examined a mutant human apolipoprotein B (apoB) allele that causes hypobetalipoproteinemia and has a single cytosine deletion in exon 26. This frameshift mutation was associated with the synthesis of a truncated apoB protein of the predicted size; however, studies in human subjects and minigene expression studies in cultured cells indicated that the mutant allele also yielded a full-length apoB protein. The 1-base-pair deletion in the mutant apoB allele created a stretch of eight consecutive adenines. To understand the mechanism whereby the mutant apoB allele yielded a full-length apoB protein, the cDNA from cells transfected with the mutant apoB minigene expression vector was examined. Splicing of the mRNA was normal; however, 11% of the cDNA clones had an additional adenine within the stretch of eight adenines, yielding nine consecutive adenines. The insertion of the extra adenine, presumably during apoB gene transcription, is predicted to restore the correct apoB reading frame, thereby permitting the synthesis of a full-length apoB protein.
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18 MeSH Terms
Relationship between platelet monoamine oxidase B activity and alleles at the MAOB locus.
Girmen AS, Baenziger J, Hotamisligil GS, Konradi C, Shalish C, Sullivan JL, Breakefield XO
(1992) J Neurochem 59: 2063-6
MeSH Terms: Adult, Alleles, Base Sequence, Blood Platelets, Chromosome Mapping, Enzyme Activation, Genetic Variation, Humans, Male, Middle Aged, Molecular Sequence Data, Monoamine Oxidase, Polymorphism, Genetic
Show Abstract · Added May 27, 2014
Genetic variations in monoamine oxidase (MAO)-B activity have been proposed to have a contributory role in several neurologic and psychiatric diseases. Variations in activity could affect rates of degradation of exogenous amines, including toxins, precursors of toxins (like 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine), or false transmitters, and of endogenous amines, such as neurotransmitters. In this study a highly polymorphic (GT)n repeat element was used to mark alleles at the MAOB locus. The MAOB allele status and levels of platelet MAO-B activity were determined for 41 control males. No correlation was noted between specific alleles and levels of MAO-B activity in this sample set. This suggests that the structural gene for MAOB is not usually the primary determinant of activity levels in platelets.
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13 MeSH Terms
Genetic map of nine polymorphic loci comprising a single linkage group on rat chromosome 10: evidence for linkage conservation with human chromosome 17 and mouse chromosome 11.
Remmers EF, Goldmuntz EA, Cash JM, Crofford LJ, Misiewicz-Poltorak B, Zha H, Wilder RL
(1992) Genomics 14: 618-23
MeSH Terms: Alleles, Animals, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 17, Crosses, Genetic, DNA, Genetic Linkage, Genotype, Humans, Mice, Molecular Sequence Data, Polymorphism, Restriction Fragment Length, Rats, Rats, Inbred F344, Rats, Inbred Lew
Show Abstract · Added September 18, 2013
Seven genes and two anonymous markers were mapped to a single linkage group on rat chromosome 10 using progeny of an F2 intercross of Fischer (F344/N) and Lewis (LEW/N) inbred rats. Two genes, the neu oncogene or cellular homologue of the viral oncogene erbb2 (ERBB2) and growth hormone (GH) were mapped by Southern blot analysis of restriction fragment length polymorphisms. Five genes, embryonic skeletal myosin heavy chain (MYH3), androgen binding protein/sex hormone binding globulin (SHBG), asialoglycoprotein receptor (hepatic lectin)-1 (ASGR1), ATP citrate lysase (CLATP), and pancreatic polypeptide (PPY), and two anonymous markers, F16F2 and F10F1, were mapped using PCR amplification techniques. The PCR-typable polymorphic markers for the five genes were also highly polymorphic in 10 other inbred rat strains (SHR/N, WKY/N, MNR/N, MR/N, LOU/MN, BN/SsN, BUF/N, WBB1/N, WBB2/N, and ACI/N). These markers should be useful in genetic analysis of traits described in inbred rat strains, as well as in genetic monitoring of such strains. The loci in this linkage group covered 50 cM of rat chromosome 10 with the following order: MYH3, SHBG/ASGR1 (no recombinants detected), F16F2, ERBB2, CLATP, PPY, GH, and F10F1. Comparative gene mapping analysis indicated that this region of rat chromosome 10 exhibits linkage conservation with regions of human chromosome 17 and mouse chromosome 11.
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16 MeSH Terms
C. elegans unc-4 gene encodes a homeodomain protein that determines the pattern of synaptic input to specific motor neurons.
Miller DM, Shen MM, Shamu CE, B├╝rglin TR, Ruvkun G, Dubois ML, Ghee M, Wilson L
(1992) Nature 355: 841-5
MeSH Terms: Alleles, Amino Acid Sequence, Animals, Base Sequence, Blotting, Southern, Caenorhabditis, Caenorhabditis elegans Proteins, Cosmids, DNA, Genes, Homeobox, Genome, Helminth Proteins, Homeodomain Proteins, Molecular Sequence Data, Motor Neurons, Muscle Proteins, Nuclear Proteins, Polymerase Chain Reaction, Polymorphism, Genetic, Restriction Mapping, Synapses, Transcription, Genetic
Show Abstract · Added February 3, 2014
The creation of neural circuits depends on the formation of synapses between specific sets of neurons. Little is known, however, of the molecular mechanisms governing synaptic choice. A mutation in the unc-4 gene alters the pattern of synaptic input to one class of motor neurons in the Caenorhabditis elegans ventral nerve cord. In unc-4(e120), the presynaptic partners of VA motor neurons are replaced with interneurons appropriate to motor neurons of the VB class. This change in neural specificity is not accompanied by any detectable effects on neuronal morphology or process extension. We show that the absence of a functional unc-4 gene product accounts for the mutant phenotype. The unc-4 gene encodes a homeodomain protein and thus is likely to function as a transcription factor. The limited effect of the unc-4 null mutation on cell fate may mean that unc-4 regulates the expression of a small number of target genes and that the products of these genes are directly involved in the choice of synaptic partners.
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22 MeSH Terms
Analysis of the PvuII restriction fragment-length polymorphism and exon structure of the estrogen receptor gene in breast cancer and peripheral blood.
Yaich L, Dupont WD, Cavener DR, Parl FF
(1992) Cancer Res 52: 77-83
MeSH Terms: Adult, Alleles, Base Sequence, Breast Neoplasms, Deoxyribonucleases, Type II Site-Specific, Exons, Female, Humans, Middle Aged, Molecular Sequence Data, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Receptors, Estrogen
Show Abstract · Added March 21, 2014
The presence of estrogen receptor (ER) is a well-known predictor of clinical outcome in human breast cancer. We examined the ER gene in 26 primary breast cancers (14 ER-positive, 12 ER-negative) to determine if alterations of the gene are associated with the ER-negative status. In tumor biopsies and peripheral blood DNA obtained from the same patients we analyzed the ER exon structure using polymerase chain reaction amplification, restriction endonuclease digestion, and agarose gel electrophoresis. All blood and tumor samples, regardless of ER status, showed a complete set of eight exons of normal sizes, ruling out deletions or rearrangements of the ER gene in excess of +/- 20 nucleotides. Previous reports indicate that the two-allele ER PvuII polymorphism could be associated with ER expression in breast cancer (Hill et al., Cancer Res., 49: 145-148, 1989) as well as with patient age at time of tumor diagnosis (Parl et al., Breast Cancer Res. Treat., 14: 57-64, 1989). We localized the PvuII polymorphism in intron 1, 0.4 kilobase upstream of exon 2. Sequence analysis showed the polymorphism to result from a point mutation (T----C) at the fifth position of the restriction site (CATCTG). We determined the PvuII restriction fragment-length polymorphism genotype in 257 primary breast cancers and 140 peripheral blood DNA samples obtained from women without breast cancer. The results indicate that the PvuII polymorphism is not associated with ER content or patient age at tumor diagnosis.
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13 MeSH Terms