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Biomedical subjects

A Fantoni

Publications and source records attributed to A Fantoni.

At least 55 records · Page 3Linked to original sources
PubMed1987

Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme.

A cDNA for coagulation factor XII has been used to investigate the presence of gene lesions and restriction fragment length polymorphisms in two brothers with Hageman trait and their family. A TaqI polymorphic fragment has been found in the two propositi and in 11 members of the paternal lineage. This polymorphism, absent in the normal population, is correlated with the reduction of factor XII activity and enables the identification of heterozygous factor XII deficiency. Factor XII gene deletion as the cause of Hageman trait in this family has been excluded. A restriction map has been constructed, and the TaqI polymorphic site has been localized within the 5' portion of the gene. The mutation in the polymorphic site is probably the cause of the factor XII deficiency. Data suggest the presence of one factor XII gene per haploid genome.

Collodion↗
PubMed1985

Cytologic evidence for increased rRNA gene activity in hemin-induced K562(S) cells.

Hemin-induced K562(S) cells have been studied for the following parameters: cell proliferation, erythroid induction, hemoglobin accumulation, and activation of ribosomal gene clusters 48 hr after hemin induction. Increased transcriptional activity of rRNA genes has been demonstrated by cytochemical methods at both the cell population and single cell level. The following results have been obtained: (a) The vast majority of induced cells shows a highly significant increase in the number of active rRNA gene clusters per cell. At this time, the number of benzidine-positive cells and the quantity of hemoglobin per cell are almost doubled. (b) Specific rRNA gene clusters are activated within single cells. Activation can be visualized at the single gene cluster level. (c) The increase in the average number of active ribosomal gene clusters per cell is not due to clonal selection, but rather to diffuse activation of several gene clusters. (d) The transcriptional activity of rRNA genes has been shown to be regulated at the cellular level by an agent known to specifically induce derepression of genes responsible for erythroid differentiation.

Cell Differentiation↗
PubMed1984

Human leukemia K562 cells: relationship between hemin-mediated erythroid induction, cell proliferation and expression of c-abl and c-myc oncogenes.

We have studied the expression of the c-myc and c-abl oncogenes in two human leukemic K562 cell lines which do express hemoglobin genes retaining a differential rate of cell proliferation. Our data indicate that in hemin-induced K562(S) cells the expression of c-abl oncogene decreases and appears to be related to a decrease in the proliferation capacity rather than to the activation of differentiated functions. The K562(hC) cell line, which produces large amounts of Hb Gower 1 retaining an efficient rate of cell proliferation, expresses indeed the c-abl oncogene at high level.

Cell Division↗
PubMed1984

The mouse beta h1 gene codes for the z chain of embryonic hemoglobin.

Beta h0 and beta h1 are two beta-like globin genes in the mouse beta-globin gene cluster whose functions have not previously been established. Transcripts of both beta h0 and beta h1 are found in yolk sac-derived erythroid cells from mouse embryos and in the murine erythroleukemic cell line GM979. S1 nuclease analysis shows that beta h1 is the more abundant of the two transcripts in both embryonic erythroid cells and the cell line GM979. Hybridization of a beta h1-specific probe to RNA from erythroid cells of 10-, 11-, 12-, 13-, and 14-day-old mouse embryos indicates that levels of beta h1 mRNA are high at 10 and 11 days and then decline during further fetal development. The in vitro translation product of hybrid-selected beta h1 mRNA was analyzed by acid/urea polyacrylamide gel electrophoresis. The beta h1 translation product has the electrophoretic mobility expected for the z chain. We conclude that beta h1 is a fully functional gene which codes for the embryonic z chain.

Animals↗
PubMed1984

Human leukemia K-562 cells: induction of erythroid differentiation by 5-azacytidine.

In this article we show that the cytidine analog 5-azacytidine is able to induce differentiation of the human leukemia K-562 cell line. Erythroid induction is associated with (a) an increase of the overall globin synthesis and globin mRNA accumulation, (b) a relative increase of fetal with respect to embryonic globins, and (c) a decrease of the proliferative capacity of hemoglobin-containing cells. In addition, we have analysed the DNA methylation pattern at the cleavage sites of MspI and HpaII restriction enzymes, which are known to cleave differently CCGG DNA sequences when 5-methylcytosine is present. These experiments indicate that in K-562 cells treated with 5-azacytidine, DNA becomes hypomethylated, suggesting that genetic programmes leading to an erythroid phenotype may be activated by a reduction of DNA methylation.

Azacitidine↗
PubMed1984

Molecular cloning and sequence analysis of a cDNA coding for the mouse alpha-like embryonic globin chain x.

Cytoplasmic poly(A)+mRNA from 12-day mouse-yolk-sac erythroid cells has been used to prepare a cDNA library in the plasmid pBR322. One clone containing sequences coding for the alpha-like embryonic globin chain x, pHE52, has been identified by hybrid selection and in vitro translation of the complementary mRNA. The nucleotide sequence of pHE52 confirms that it codes for an embryonic alpha-like globin chain. The insert sequence is 316 nucleotides long, contains the codons corresponding to amino acid residues 43-141, and extends into the 3' untranslated region. An analysis of the nucleotide sequence of pHE52 and the other known alpha globins suggests that the adult-embryonic divergence began approx. 400 million years ago reflecting a difference in the evolutionary history of the alpha- and beta-globin gene complexes.

Amino Acid Sequence↗
PubMed1983

Desferrioxamine inhibits induced erythroid differentiation of human leukemic K-562 cells.

The iron chelator desferrioxamine reversibly inhibits heme accumulation and globin synthesis in human leukemic K-562 cells induced to express erythroid genes by butyric acid. These results suggest that iron metabolism can modulate globin gene expression. In addition we describe experimental conditions (6.25 micrograms/ml desferrioxamine) which do not suppress transcription of globin genes and translation of globin mRNA but prevent heme synthesis. Therefore expression of globin genes in butyric acid induced K-562 cells does not require accumulation of heme molecules. Human leukemic K-562 cells cultured with different inducers and treated with desferrioxamine should be used as a useful model system to further analyse the relationship between expression of erythroid genes, iron metabolism and heme accumulation.

Butyrates↗
PubMed1981

[Voluntary interruption of pregnancy in an area hospital on the outskirts of Turin].

Data pertaining to a series of 457 cases of voluntary termination of pregnancy at the Rivoli Infirmary Obstetrics and Gynaecology Division are presented. The patients were divided into three groups by weeks of amenorrhoea. The parameters investigated were: age, parity, previous spontaneous and artificial abortions, and complications observed 60 days after the operation. Percentage data were evaluated in terms of age, marital status, number of children, socioeconomic group, and reasons for termination. Lastly, percentages of dissent and consent on the part of the male partner were also worked out.

Abortion, Induced↗
PubMed1981

The nucleotide sequence of the mouse embryonic beta-like y-globin messenger RNA as determined from cloned cDNA.

We have determined the nucleotide sequence of two cloned cDNAs corresponding to the mRNA of mouse embryonic y2 globin. The combined overlapping sequences span a total of 480 bp, beginning at the codon corresponding to amino acido residue 21 and extending to the AATAAA sequence in the 3' untranslated region. Therefore, when the amino acid sequence encoded by the cDNA is combined with the available amino acid sequence, a complete y2 protein sequence can be obtained. Comparisons, at the nucleotide level, between the known beta- and beta-like globin sequences and the y2 sequence show that the embryonic, fetal-adult duplication occurred approx. 160 million years (MY) ago and that the embryonic-fetal duplication occurred approx. 100 MY ago.

Amino Acid Sequence↗