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Biomedical subjects

A Bernheim

Publications and source records attributed to A Bernheim.

At least 109 records · Page 6Linked to original sources
PubMed1992

Physical mapping of human loci homologous to the chicken nov proto-oncogene.

The human locus (novH) corresponding to the nov protooncogene overexpressed in avian nephroblastoma has been identified and mapped on chromosome 8q24.1. Another locus sharing homology with novH and corresponding to the connective tissue growth factor (CTGF) gene has also been mapped on chromosome 6q23.1. The chromosomal assignment of nov and CTGF proximal to c-myc and c-myb respectively is of interest because chromosomal abnormalities involving these regions have been associated with different human tumors including Wilms'.

Animals↗
PubMed1992

Mucin 4 (MUC4) gene: regional assignment (3q29) and RFLP analysis.

The use of a probe (JER64) containing a mucin 4 (MUC4) cDNA insert of 1.83 kb allowed to assign by in situ hybridization, the MUC4 gene to 3q29. This probe detected RFLPs with all restriction enzymes used (BamHI, HindIII, PstI, EcoRI, and TaqI). Particularly numerous alleles were observed with PstI, EcoRI and TaqI, in a small sample of unrelated DNAs (25 digested with PstI, 8 with EcoRI and 8 with TaqI). The PIC values were 0.69, 0.63 and 0.70 for PstI, EcoRI and TaqI respectively. The polymorphisms observed of variable number of tandem repeat (VNTR) type are in relation with the presence of tandemly repeated nucleotide sequences in MUC4 gene.

Blotting, Southern↗
PubMed1992

[Neurosarcoma associated with Von Recklinghausen disease: apropos of 25 cases observed at the Gustave Roussy Institute from 1967 to 1990].

In the absence of systematic immunohistochemistry investigations, only 25 cases (out of 69) clearly diagnosed as neurosarcoma due to the association with Von Recklinghausen disease (ie, neurofibromatosis type 1) and treated at the Institut Gustave Roussy were included in the present study. Neurosarcoma consists of a neurocristopathy whose cells migrate to several parts of the body in order to constitute neuroglia, Schwann cells, pigmented and endocrinal tissues. From 1967 to 1990, 25 cases of such neurosarcomas associated with a neurofibromatosis type 1 were seen at our institute. Three different histological terms exist for this tumour: malignant schwannoma, neurosarcoma, and more recently, malignant peripheral nerve sheath tumours (MPNST). The median age (23 years) of the patients with neurofibromatosis type 1 is lower than that of patient with isolated neurosarcoma. Their sex ratio is 2/1. Primary tumour surgical exeresis was performed in all cases, with poor results in 7. Post-operative radiation therapy was not systematically used in this series. It was administered only in cases with incomplete surgical exeresis or when a local recurrence occurred. Adjuvant CYVADIC (doxorubicin, procarbazine, cyclophosphamide, vincristine) chemotherapy was administered in 5 cases, of in cases of relapse (8). All cases but 2 (the most recent ones) relapsed within 1 to 226 months (median 7 months). In addition, 13 patients developed metastases. Overall, the 2-year and 4-year survival rates were 41% and 18%, respectively. Our observations confirm the very poor prognosis for the association of neurofibromatosis type 1 and neurosarcoma. This finding should lead to systematically associate radical surgical exeresis, post-operative irradiation and adjuvant chemotherapy in the treatment of these patients.

Adolescent↗
PubMed1991

The human ASM (adult skeletal muscle) gene: expression and chromosomal assignment to 11p15.

A rat adult skeletal muscle probe (Asm15) originated from a rhabdomyosarcoma was used to isolate the human homologous sequence from a placenta cDNA library. Among several positive clones the longest EcoRI-EcoRI insert (ASM1) obtained was 1875 bp long with 72% homology with rat Asm15 cDNA sequence. Important variations of ASM1 RNA level were observed in different adult skeletal muscles. Expression of a 29kD ASM1 protein was demonstrated in human adult skeletal muscle lysates using an antiserum (PB1579) raised against the C terminal region of the rat Asm15 protein. The human ASM gene was assigned by somatic cell analysis with human (ASM1) and rat (Asm15) probes to chromosome 11, and by in situ hybridization with the human probe to 11p15, a chromosome region involved in human embryonal rhabdomyosarcomas. Except for the presence of a HindII restriction site, the results obtained for the restriction map and the sequence of ASM1 cDNA (data not shown) exhibited extensive homology with the human H19 DNA sequence which have been mapped with a mouse probe also in 11p15. This suggests that ASM/Asm and H19 may represent the same sequence (in this hypothesis the presence of the supplementary HindII site in our ASM1 probe is explained by polymorphic variability). However it was reported that human and mouse H19 mRNA did not encode for a protein but acted as an RNA molecule whereas in our present study ASM protein was detected in human adult skeletal muscle. This could be explained by important regulation of ASM protein expression during development and cell differentiation. However we cannot exclude for the different species studied (mouse, rat, and man) the hypothesis that H19 and ASM/Asm mRNA may represent two distinct messengers from the same gene or even from duplicated genes.

Adult↗
PubMed1991

Molecular cloning and chromosomal localization of a novel human tracheo-bronchial mucin cDNA containing tandemly repeated sequences of 48 base pairs.

A lambda gt11 cDNA library constructed from human tracheo-bronchial mucosa was screened with a polyclonal antiserum raised to chemically deglycosylated pronase glycopeptides from human bronchial mucins. Out of 20 positives clones, one partial cDNA clone was isolated and allowed to map a novel human tracheo-bronchial mucin gene. It contains 48 nucleotide tandem repeats quite perfectly identical which encodes a protein containing about 50% of hydroxy amino-acids. This clone hybridized to polydisperse messages produced by human tracheo-bronchial and human colonic mucosae. The gene (proposed name MUC 4) from which cDNA is derived maps to chromosome 3.

Amino Acid Sequence↗
PubMed1991

The human placental protein 14 (PP14) gene is localized on chromosome 9q34.

PP14 protein (placental protein 14) is abundantly secreted by the human endometrium under the influence of progesterone. Human PP14 is homologous to beta-lactoglobulin, the main component of equine, bovine, and ovine milk whey. A genomic PP14 probe (PP14G1) was used for the chromosome assignment of the PP14 gene. Somatic hybrid cells enabled PP14G1 to be assigned to chromosome 9. In situ hybridization further refined this assignment to 9q34. The localization of the PP14 gene in the region of the ABO locus is consistent with the linkage described in bovines between beta-lactoglobulin and the J blood group (homologous to the human ABO group).

Animals↗
PubMed1991

Relative order determination of four Yp cosmids on metaphase and interphase chromosomes by two-color competitive in situ hybridization.

Two-color competitive in situ hybridization was used to cytogenetically order four Yp cosmid probes, located in the pseudo-autosomal and TDF regions. The probes were hybridized by pairs to metaphase and interphase chromosomes. On metaphase chromosomes, determination of order between sequences separated by 3 Mb from each other was possible on a statistical basis, whereas the relative position of sequences 0.6 Mb apart could not be determined. On interphase chromosomes the complete order between sequences separated by 0.6-6 Mb was obtained rapidly by measuring the distances between two cosmid spots of every cosmid pair used in 28 to 60 nuclei. Results demonstrate the potential power of fluorescent in situ hybridization at interphase for high resolution cosmid mapping.

Binding, Competitive↗
PubMed1990

Preparation of a human DOPA decarboxylase cDNA probe by PCR and its assignment to chromosome 7.

The reverse transcription of mRNA of a human pheochromocytoma using an oligonucleotide complementary to rat DOPA decarboxylase (DDC) sequence as a primer, gave rise to a single strand cDNA. This resultant cDNA permitted by PCR amplification the preparation and cloning in PUC 19 of a human DDC probe of 747 base pairs. The choice of primer was dictated by the presence of tryptophan codons in the DOPA decarboxylase sequence which were conserved in different species throughout evolution. The presence of mismatches on the primers was not an obstacle to a specific amplification and the probe sequence was found identical to the human DDC cDNA sequence. This probe, labelled by nick translation detected on Southern blot of human-rodent hybrids, bands on human DNA after EcoRI, BamHI or HindIII digestion. The results with EcoRI were explicit and drove to the conclusion that DDC is located on chromosome 7. Five bands were obtained on human DNA digested with EcoRI, indicating that either numerous introns could interrupt the coding sequence of DDC gene or duplicated sequences could be present in chromosome 7.

Base Sequence↗
PubMed1989

Different Hoechst 33342 and DAPI fluorescence of the human Y chromosome in bivariate flow karyotypes.

The staining properties of AT-specific dyes Hoechst 33342 and DAPI as revealed by Hoechst 33342/mithramycin and mithramycin/DAPI bivariate human flow karyotype patterns are different for chromosomes rich in heterochromatin. The peak corresponding to chromosome Y of a given cell line is higher on the A/T axis with mithramycin/DAPI staining than with mithramycin/Hoechst. The chromosome 1 was found slightly more fluorescent in mithramycin/DAPI than in mithramycin/Hoechst as judged by the slight displacement of its area on the Hoechst-DAPI axis. The other peaks did not show major differences. On the same flow karyotypes, chromosomal rearrangements were detected.

Benzimidazoles↗
PubMed1989

Chromosome mapping of the human ras-related rab3A gene to 19p13.2.

The rab genes belong to one of the three main branches of the ras super family. The encoded rab proteins share 38 to 75% amino acid identity with the yeast YPT1 and SEC4 proteins. We used the human rab3A cDNA to map the corresponding gene on human chromosomes by chromosome sorting and in situ hybridization. Both techniques allowed the assignment of the rab3A gene to chromosome 19 with a regional localization on 19p13.2 obtained by in situ hybridization.

Chromosome Banding↗
PubMed1989

Constitutional C-band polymorphism in lymphocytes from patients with chronic myeloid leukemia.

The C-band heterochromatin polymorphism of chromosomes 1, 9, and 16 was studied in lymphocytes from 53 patients with Ph1-positive chronic myeloid leukemia (CML) and 183 control persons. The patients had significantly larger heterochromatic blocks on chromosome 16 (p less than 0.01) and fewer partial inversions of chromosome 9 (p less than 0.05) than the control persons, whereas no differences were found for the symmetry/asymmetry pattern. We suggest that the increased constitutive heterochromatin regions may, via sister chromosome exchange, facilitate homo- or hemizygotization of genes which favor neoplasia development and/or progression.

Chromosome Aberrations↗
PubMed1989

No abnormal C-band polymorphism in lung cancer patients.

The C-band heterochromatin polymorphism of chromosomes 1, 9, and 16 was studied in lymphocytes from 52 lung cancer patients and 183 control persons. No significant differences between the controls and patients were found regarding heterochromatin block size, the frequency of partial and total inversions, or the symmetry/asymmetry pattern.

Chromosome Banding↗
PubMed1989

Molecular analysis of a t(9;14)(p11;q32) translocation occurring in a case of human alpha heavy chain disease.

We performed the cloning and sequencing of the der(14) breakpoint of a new chromosomal translocation involving the 14q32 immunoglobulin locus. This t(9;14)(p11;q32) translocation was found in a case of malignant lymphoma occurring in human alpha heavy chain disease. A rearranged alpha 1 gene fragment was cloned and shown to contain chromosome 9 information by Southern blotting on sorted chromosomes and by in situ hybridization. Sequence analysis of the junction point region established that the breakage occurred 3' to the heavy chain joining region. In contrast to the data obtained in other translocations affecting 14q32 immunoglobulin locus, the recombination did not involve the immunoglobulin heavy chain locus specific recombination signals on chromosome 14, or homologous sequences on chromosome 9. In the present case, the existence of two almost perfect inverted repeats flanking the junction point suggests that the translocation originated from a local pairing of the two chromosomes 9 and 14. Chromosome 9 fragments sequenced in the vicinity of the breakpoint did not share significant homology with sequences listed in GenBank and EMBL data bases.

Base Sequence↗
PubMed1989

Cytogenetics of acute nonlymphocytic leukemia in relapse.

Cytogenetic studies were performed at diagnosis and in relapse in 45 patients with acute nonlymphocytic leukemia. While 23 patients did not exhibit clonal chromosome changes, the other half had changes of different types: apparent acquisition of clonal abnormalities in 4 cases normal at diagnosis; appearance of additional chromosome changes either in the same clone or as mosaic in 9 cases; selection of a minor subclone previously observed at diagnosis in 7 cases; disappearance of the abnormal clone replaced by a cytogenetically unrelated karyotype in 2 cases. Some non clonal anomalies similar to those observed in secondary leukemias were also detected.

Adult↗