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Biomedical subjects

P Goodfellow

Publications and source records attributed to P Goodfellow.

At least 55 records · Page 3Linked to original sources
PubMed1984

Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.

We studied two families with an inherited deletion of the short arm of an X chromosome (Xp) in which affected male offspring have epiphyseal stippling in infancy (chondrodysplasia punctata), nasal hypoplasia, ichthyosis, and mental retardation. The presence of ichthyosis and the apparent pattern of X-linked recessive inheritance prompted investigation of the short arm of the X chromosome through studies of genetic markers and focused cytogenetic analysis. Biochemical studies suggested that there was a deletion of three genes previously mapped to the X-chromosome short arm, including the steroid sulfatase locus, the Xg locus, and the M1C2X locus. Prometaphase chromosomes demonstrated a deletion of Xp at p22.32 in the affected boys, in their obligate-carrier mothers, and in 11 of 25 women at risk as potential carriers. The women carrying the Xp deletion had normal gonadal function and fertility but were shorter than the noncarriers in their families (P less than 0.00001). These findings have implications for the genetic organization of this portion of the human X chromosome and demonstrate that small cytogenetic abnormalities may account for disorders with apparent mendelian patterns of inheritance.

Adolescent↗
PubMed1984

The human myoglobin gene: a third dispersed globin locus in the human genome.

Human myoglobin is specified by a single gene. Unique sequence DNA probes were isolated from the cloned gene and used to test for the presence of the human myoglobin gene in a series of human rodent somatic cell hybrids containing various complements of human chromosomes. The myoglobin gene cosegregated with human chromosome 22. Somatic cell hybrids containing translocation chromosomes carrying part of chromosome 22 were used to locate the myoglobin gene to the region 22q11----22q13. The myoglobin gene is therefore not linked to the alpha-globin gene cluster on chromosome 16 or the beta-globin cluster on chromosome 11, and represents a third dispersed globin locus in the human genome.

Animals↗
PubMed1984

Relationships between genes on human chromosome 11 encoding cell-surface antigens.

Genes encoding seven monoclonal antibody-defined cell-surface antigens have been regionally mapped on human chromosome 11, and compared to those of the AL complex defined by polyclonal antibodies using mutational analysis. MIC1, encoding W6/34 antigen, is probably identical to S1, previously mapped to 11pter-p13. MDU1 and MIC8, encoding 4F2 and TRA-1.10 antigens, respectively, are probably identical to S2(a4) and map to 11q13-q22. MIC9, which governs expression of 4D12 and 2E2 antigens, and maps to 11q22-qter, is not related to any of the five AL genes. MIC4 and MIC11, both mapping to 11pter-p13, may have some relationship to S3 and S1, respectively, but identity has not been proven.

Antibodies, Monoclonal↗
PubMed1984

Expression of simian virus 40 large T antigen in embryonal carcinoma cell hybrids.

Previous work has shown that murine embryonal carcinoma cells are refractory to infection with various viruses, including simian virus 40. Thus, large T and small t antigens, the products of the simian virus 40 early region, are not produced when the virus infects embryonal carcinoma cells, in contrast to other cell types. We show, by qualitative and quantitative analyses, that embryonal carcinoma cell hybrids, containing a simian virus 40 early region integrated into human DNA, are capable of producing viral large T antigen.

Animals↗
PubMed1984

The cell surface antigen locus, MIC2X, escapes X-inactivation.

Recently, it was shown that the cell surface antigen defined by the monoclonal antibody 12E7 is expressed by both the human X and Y chromosomes; the gene loci on the X and Y chromosomes are referred to as MIC2X and MIC2Y, respectively. It was also shown that MIC2X is located in the region Xp22.3----Xpter and MIC2Y is in the region Ypter-Yq1.1. Here, we show that MIC2X escapes X-inactivation on structurally normal and abnormal inactive human X chromosomes.

Animals↗
PubMed1983

Integration of Ecogpt and SV40 early region sequences into human chromosome 17: a dominant selection system in whole cell and microcell human-mouse hybrids.

The dominant selectable gene, Ecogpt, has been introduced, by the calcium phosphate precipitation technique, into normal human fibroblasts, along with the SV40 early region genes. In one transfectant clone, integration of these sequences into human chromosome 17 was demonstrated by the construction of human-mouse somatic cell hybrids, selected for by growth in medium containing mycophenolic acid and xanthine. A whole cell hybrid, made between the human transfectant and a mouse L cell, was used as donor of the Ecogpt-carrying human chromosome 17 to 'tribrids' growing in suspension, made by whole cell fusion between a mouse thymoma cell line, and to microcell hybrids made with a mouse teratocarcinoma cell line. Two tribrids contained karyotypically normal human chromosomes 17 and a small number of other human chromosomes, while a third tribrid had a portion of the long arm of chromosome 17 translocated to mouse as its only human genetic material. Two independent microcell hybrids contained a normal chromosome 17 and no other human chromosome on a mouse teratocarcinoma background. These experiments demonstrate the ability to construct human-mouse somatic cell hybrids using a dominant selection system. By applying this approach it should be possible to select for a wide range of different human chromosomes in whole cell and microcell hybrids. In particular, transfer of single human chromosomes to mouse teratocarcinoma cells will allow examination of developmentally regulated human gene sequences after differentiation of such hybrids.

Animals↗
PubMed1983

'Attached cell' antigen 28.3.7 mapping to human chromosome 15 characterises TPA-induced differentiation of the promyelocytic HL-60 cell line to give macrophage/monocyte populations.

Human cells growing in vitro attached to the substratum express a cell antigen called 28.3.7 identified by a species-specific monoclonal antibody. This antigen is not expressed on human cells growing in suspension. The antigen has a mol. wt. in reduced SDS-polyacrylamide gel electrophoresis gels of 95 000 and in human-mouse somatic cell hybrids, expression of the antigen is controlled by a gene, MIC7, mapping to human chromosome 15. The antigen functions as a marker for macrophage differentiation. In vitro differentiation of the 28.3.7 antigen-negative human promyelocytic leukaemia line HL-60 induced by phorbol ester, results in the formation of a macrophage/monocyte population and the concomitant expression of the 28.3.7 antigen on this adherent cell population.

Antibodies, Monoclonal↗
PubMed1983

Human chromosome 11 carries at least four genes controlling expression of cell-surface antigens.

We have mapped two new genes to chromosome 11 which control the cell-surface expression of two distinct antigens defined by monoclonal antibodies. One of the antigens has a general tissue distribution and is associated with a molecular complex of two polypeptides of 80,000 dalton and 40,000 dalton molecular weight. The second antigen has a restricted tissue distribution and is carried on a polypeptide of 100,000 daltons. We have used a combination of genetic and biochemical techniques to demonstrate that these new markers are distinct from the antigens defined by the monoclonal antibodies F10.44.2 and W6/34 which are also encoded by genes on chromosome 11. It is concluded that human chromosome 11 carries at least four distinct genes controlling cell-surface antigen expression.

Animals↗
PubMed1983

Isolation of cDNA clones for the p33 invariant chain associated with HLA-DR antigens.

HLA-DR antigens are polymorphic cell surface glycoproteins involved in the control of the immune response in man. They consist of two subunits, the alpha and the beta chains. In addition, an invariant glycoprotein of Mr 33,000 (DRp33) is associated intracellularly with HLA-DR antigens. A cDNA clone for DRp33, called 33-10, was isolated. Because no amino acid sequence has yet been determined for DRp33 the identification of cDNA clone 33-10 was based on selection of mRNA by hybridization, subsequent translation in a rabbit reticulocyte lysate supplemented with microsomes, and translation in microinjected Xenopus oocytes followed by immunoprecipitation with an anti-DR antiserum. The translation products assembled with DR alpha and beta chains in oocytes coinjected with all three mRNAs. Assembly of DR alpha and beta chains was also observed in the absence of DRp33 mRNA. Furthermore, when compared with DRp33 immunoprecipitated from a human B-cell line, translation products of the hybrid-selected mRNA showed (i) identical migration in two-dimensional gel electrophoresis, (ii) identical apparent molecular weight in the absence of N-linked glycosylation, and (iii) a very similar two-dimensional peptide map. Transcription of the DRp33 gene into a mRNA 1,400 nucleotides long was observed in B cells but was undetectable in T-cell lines and was very low in liver. Thus, DRp33 appears to be coordinately expressed with DR alpha and beta chains. Hybridization to DNA of mouse-human somatic cell hybrids showed that DRp33 is encoded by a gene that is located outside the major histocompatibility complex.

Animals↗
PubMed1983

A monoclonal antibody related to the human blood group Gerbich.

The monoclonal antibody, GERO, agglutinated all samples of red cells with the exception of Gerbich-negative cells of both Ge and Yus types. Using the antiglobulin test, Gerbich-negative cells reacted as strongly with GERO as did Gerbich-positive cells.

Antibodies, Monoclonal↗
PubMed1981

Detection of a common feature in several human tumor cell lines--a 53,000-dalton protein.

Human cell lines, whether derived from spontaneous tumors or transformed in vitro with simian virus 40, were found to contain a 53,000-dalton phosphoprotein (pp53) in contrast to normal human cells in which this protein was not detected. Isoelectric focusing showed that pp53 comprised several species in both simian virus 40-transformed and tumor cells. Comparison of the pp53 species from the various cell lines by partial proteolysis showed that they were similar but not identical. Among the 13 tumor cell lines examined, only 1 line, HeLa, did not contain detectable pp53. All the other tumor cell lines contained pp53, and it is suggested that this protein may be associated with their transformed state.

Antigens, Neoplasm↗
PubMed1978

Identification of stage-specific polypeptides synthesized during murine preimplantation development.

[35S]Methionine-labeled extracts of mouse ova and preimplantation embryos were analyzed by two dimensional polyacrylamide gel electrophoresis. Of the 400-600 molecular species that have been resolved as distinct spots on autoradiograms of gels for every stage of development from unfertilized eggs to early blastocysts, particular attention has been paid to the identification of 36 of these proteins, each of which is expressed only for a portion of the period under investigation. These molecules are referred to as stage-specific polypeptides and they are biochemical markers of early embryonic development and differentiation.

Animals↗
PubMed1978

Bw21 partition and crossreactivity of the components.

Available lymphocytotoxic antisera permitted the clear partition of the Bw21 antigen into two distinct components, Bw21.1 and Bw21.2. Bw21.1 is associated with W4 and is approximately twofold more frequent than the W6-associated Bw21.2. Cells of either Bw21 subtype were capable of absorbing specific anti-Bw21.1, anti-Bw21.2, and anti Bw21 (21.1 + 21.2) antibodies. Further, an F(ab')2 fragment prepared from an anti-Bw21.1 serum blocked cytotoxicity of anti-Bw21.1, anti-Bw21.2 and anti-Bw21 (21.1 + 21.2) sera. Based on the crossreactivity (by absorption) and blocking data, a model is proposed relating the Bw21 subtypes and the W4 and W6 antigens.

Cross Reactions↗