Hypernatremia after the use of an activated charcoal-sorbitol suspension.
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Charcoal↗
Biomedical subjects
C M Moore
Publications and source records attributed to C M Moore.
Double minute chromosomes can be produced from precursors derived from a chromosomal deletion.
Recent experiments have shown that gene amplification can be mediated by submicroscopic, autonomously replicating, circular extrachromosomal molecules. We refer to those molecules as episomes (S. Carroll, P. Gaudray, M. L. DeRose, J. F. Emery, J. L. Meinkoth, E. Nakkim, M. Subler, D. D. Von Hoff, and G. M. Wahl, Mol. Cell. Biol. 7:1740-1750, 1987). The experiments reported in this paper explore the way episomes are formed and their fate in the cell over time. The data reveal that in our system the episomes are initially 250 kilobases, but gradually enlarge until they become double minute chromosomes. In addition, we show that episomes or double minute chromosomes can integrate into chromosomes. Our results also suggest that episomes can be produced by deletion of the corresponding sequences from the chromosome.
Animals↗
Chromosomal localization of human lactotransferrin gene (LTF) by in situ hybridization.
Lactotransferrin (LTF) is an important member of the transferrin family of proteins. These proteins play an essential role in the transport of iron in extracellular fluid (Aisen and Listowsky, 1980). Southern blot analysis of mouse-human somatic cell hybrids have localized the LTF gene to region q21----qter of human chromosome 3 (Teng et al., unpublished data). Using the same full-length mouse cDNA probe (2.2 kb), the LTF gene was mapped to human chromosomal bands 3q21----q23 by in situ hybridization. The sublocalization of the LTF gene to 3q21----q23 is in the region of human chromosome 3 where the gene loci of transferrin and transferrin receptor have been localized (Yang et al., 1984; van de Rijn et al., 1983).
Animals↗
Human ferritin H and L sequences lie on ten different chromosomes.
In humans, the H (heavy) and L (light) chains of the iron-storage protein ferritin, are derived from multigene families. We have examined the chromosomal distribution of these H and L sequences by Southern analysis of hybrid cell DNA and by chromosomal in situ hybridization. Our results show that human ferritin H genes and related sequences are found on at least seven different chromosomes while L genes and related sequences are on at least three different chromosomes. Further, we have mapped the chromosomal location of expressed genes for human H and L ferritin chains and have found an H sequence which may be a useful marker for idiopathic hemochromatosis.
Animals↗
Chromosome localization of the human renin gene (REN) by in situ hybridization.
Previous studies by Southern blot analysis of human X mouse somatic cell hybrids localized the renin gene to region p21----qter of human chromosome 1. Using a DNA insert encoding exons 2-5, the renin gene was mapped to human chromosome bands 1q25----q32 by in situ hybridization. The sublocalization of the renin gene will facilitate subsequent detailed linkage analysis of human chromosome 1.
Chromosome Banding↗
Comparative sensitivity of survival-adjusted chi-square and normal statistics for the mutagenesis fluctuation assay.
Three statistics for analysis of microtitre plate mutagenesis fluctuation tests were studied by simulation, and in enzyme-activated assays of dimethylnitrosamine and diethylnitramine. A survival-adjusted chi 2 statistic ('Gsq') was compared with Katz's normally distributed statistic ('Phi'), and with the survival-independent statistic ('Zsq') of Gilbert. When toxicity was either very low or high, the Phi statistic either could not be evaluated over the whole range of possible background mutant frequencies, or sometimes it indicated unusually high levels of statistical significance, even when the other tests were negative. The survival-adjusted Gsq closely followed the Zsq statistic throughout the experimentally useful range of toxicities and mutant background values, with some improvement in sensitivity. Within the range 80 +/- 10% survival approximately, Katz's statistic 'Phi' was the most sensitive. The choice of statistical test could affect the estimate of the minimal effective mutagenic concentration by a factor of 10-100. For screening unknowns, both types of test (Phi and Gsq (or Zsq] may help in detecting suspect pro-mutagens and in designing a confirmatory assay. Bacterial population statistics are needed to assess the value of statistically positive results.
Cell Survival↗
Effect of short-term energy intake level and exercise on oxygen consumption in men.
The influence of short-term energy intake and cycle exercise on oxygen consumption in response to a 1.5 MJ test meal was investigated in ten young, adult men. On the morning after a previous day's "low-energy" intake (LE regimen) of 4.5 MJ, the mean resting oxygen consumption increased by 0.7 ml X kg-1 X min-1 after the test meal (P less than 0.025). After a "high-energy" intake (HE regimen) of 18.1 MJ, the resting measurement was unchanged (+0.4 ml X kg-1 X min-1) after the meal (n.s.). These trends are the reverse of what would be expected if oxygen consumption in response to feeding is a factor in the acute control of body weight. The mean fasting oxygen consumption during cycle exercise at 56% of VO2max (constant work) for both LE and HE prior intakes was not different at 31.1 ml X kg-1 X min-1. Oxygen consumption during exercise increased after feeding by 0.5 ml X kg-1 X min-1 on the LE regimen (n.s.) and decreased by 1.2 ml X kg-1 X min-1 on the HE regimen (n.s.). These results are also the reverse of what would be expected if oxygen consumption in response to exercise is related to short-term energy intake.
Body Weight↗
Characterization, mapping, and expression of the human ceruloplasmin gene.
Ceruloplasmin (CP) is a copper-binding protein in vertebrate plasma. It is the product of an intragenic triplication and is composed of three homologous domains. Oligonucleotide probes constructed according to published amino acid sequences were used to identify cDNA clones encoding human CP. Two clones, CP-1 and CP-2, differed from each other by the presence or absence, respectively, of a deduced sequence of four amino acids. The two clones provided 81% of the sequence encoding CP. Comparison of the nucleotides of the three domains of the CP coding sequence revealed internal domain homology with identity of sequences ranging from 50.1% to 56%. The nucleotide sequence of CP-2 cDNa was compared to that of a homologous human protein, clotting factor VIII, and was found to be 48% identical overall. The CP gene was mapped to human chromosome 3 by somatic-cell-hybrid analysis and to 3q25 by in situ hybridization; however, sites of hybridization to DNA on other chromosomal sites suggested additional CP-like DNA sequences in the human genome. A DNA polymorphism was detected with CP cDNA after endonuclease digestion of human DNA by Pst I. CP mRNA was detected in human liver, macrophages, and lymphocytes by in situ histohybridization.
Base Sequence↗
Fragile-X mental retardation syndrome transmitted through intellectually normal males: implications for genetic counseling.
The fragile-X mental retardation syndrome is the second most common identifiable cause of mental retardation in man. This condition violates many of the expectations for X-linked disorders, including the transmission of the syndrome through men who carry the gene but, for unknown reasons, do not express it. Two new cases of male transmission are presented along with four other cases heretofore unidentified in the literature, bringing the total number of confirmed or probable cases of transmission through normal men to 32. The various unorthodox characteristics of the syndrome are reviewed in light of their influence on genetic counseling. Recommendations for counseling families with fragile-X include evaluating all sons of carrier women psychometrically and cytogenetically, abandoning termination of pregnancies with male fetuses as a means of preventing the fragile-X syndrome, assuming that all mothers of sporadic cases are carriers, and karyotyping at-risk female members at an early age.
Adolescent↗
Chromosomal localization of group-specific component by in situ hybridization.
Group-specific component (GC), an alpha 2-globulin plasma protein synthesized primarily in the liver, is the major vitamin D-binding protein in plasma. It has two common phenotypes, GC1 and GC2, which appear in all human populations. Using the cDNA insert containing the entire coding sequence of GC2, the GC gene was mapped to human chromosomal bands 4q13----q21.1 by in situ hybridization.
Chromosome Mapping↗
Mutagenicity of para-nitroso-dimethyl- and diethyl-anilines.
Low concentrations of para-nitroso-dimethylaniline (NdMA) were mutagenic to Salmonella typhimurium TA100 with optimal effect at 1.5 microM in fluctuation assays, without activating enzymes. The diethyl homologue (NdEA) had little or no mutagenic effect at low concentrations, although the bacteriocidal effects of NdMA and NdEA were similar. At higher bacteriocidal concentrations (approximately LC55-LC80) both NdMA and NdEA were mutagenic. NdMA and some other C-nitroso compounds proved carcinogenic in animal bioassays, and further research is needed to assess the human hazard from exposure to C-nitroso compounds in food, medicines or industry.
Mutagenicity Tests↗
Deletions of the long arm of chromosome 6: two new cases and review of the literature.
Seven terminal deletions and four interstitial deletions of 6q have been reported. We present the clinical and cytogenetic findings of these cases and of two new patients with different interstitial deletions of 6q. Although there are too few cases of interstitial deletions to identify one or more clinical syndromes associated with monosomies of the more proximal regions of 6q, a terminal 6q deletion syndrome is proposed. Its major components are microcephaly with mental retardation, strabismus, apparently low-set malformed ears, a broad nasal bridge, micrognathia, apparently short neck, congenital heart defect, abnormal palmar creases, and various hand abnormalities.
Abnormalities, Multiple↗
Deletions of the long arm of chromosome 10.
Patients with a partial deletion of the long arm of chromosome 10 are rare. We report eight new cases involving various segments of 10q: one terminal deletion (10q26), four (8;10) translocations resulting in terminal deletions (10q26) and duplications (8q24.3), a de novo interstitial deletion (10q23), an interstitial deletion due to a (10;13) translocation (10q11.2----10q22.1), and a ring (10p15----10q26).
Abnormalities, Multiple↗
Multiple congenital anomalies, mental retardation and hypogonadotropic hypogonadism in a boy with small marker chromosomes.
We report on a mentally retarded boy with hypogonadotropic hypogonadism. He also had a hypoplastic right kidney and right vesicoureteral reflux, blunted calyses of the left kidney, spina bifida occulta, stiff metacarpophalangeal joints, and cataract of the left eye. Chromosome studies showed two marker chromosomes, the larger of which appeared to be a ring chromosome varying greatly in size, while the smaller one remained constant in size. Chromosome abnormalities may be associated with several forms of hypogonadotropic hypogonadism.
Abnormalities, Multiple↗
Mutagenic activation of dialkylnitrosamines by intact urothelial cells.
Intact urothelial cells isolated from bladders of untreated inbred NZO/BIGd or NZC/BIGd mice and NZR/Gd rats activated dimethyl, diethyl, dipropyl, and dibutyl nitrosamines in a liquid culture mutagenesis fluctuation assay using Salmonella typhimurium TA100 as target organism. Rat and mouse urothelial cells were highly effective at 1.5 X 10(5) cells/ml, in O2 gas phase, and no cofactors were required. Relative mutagenic activities were estimated at equitoxic (LD50) concentrations of the 4 nitrosamines. Nitrosamines with odd-carbon chain substitutents were more active than the C-even compounds. Although dibutylnitrosamine is a powerful bladder carcinogen in both rats and mice while the other 3 compounds very rarely cause bladder tumours, the most active promutagens were dipropyl and dimethyl, followed by diethyl and dibutyl nitrosamines. None were active in absence of urothelial cells. Mouse bladder cells were more active than those from NZR rats. There were sex differences in the mice with NZC males and NZO females predominating, but in NZR rats urothelial cells from male and female animals were equally active. These dialkylnitrosamines are widely distributed in the environment, and our results indicate that direct mutagenic activation in the urothelium could be one factor contributing to the incidence of bladder cancer.
Animals↗
Ectodermal manifestations in Menkes disease.
Hair and skin pigmentation changes are described in males with Menkes disease from birth to 12 years of age and in 28 obligate carrier or at-risk females. Pili torti were observed in all affected males and in 43% of the females studied. The presence of pili torti may be considered a reliable diagnostic feature of the carrier state. Suggestions are given for evaluation of the hair in individuals in Menkes pedigrees.
Brain Diseases, Metabolic↗
Chromosomal diagnosis of the Werner syndrome.
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Adult↗
A questionnaire for identifying the pregnant patient in need of prenatal diagnosis.
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Female↗