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Biomedical subjects

J Kunz

Publications and source records attributed to J Kunz.

At least 73 records · Page 4Linked to original sources
PubMed1996

A solitary human H3 histone gene on chromosome 1.

A solitary histone H3 gene encoding a novel H3 protein sequence has been isolated. This H3 gene maps to chromosome 1 (1q42), whereas we have shown previously that the majority of the human histone genes form a large cluster on chromosome 6 (6p21.3). In addition, a small cluster has been described at 1q21. The clustered histone genes are expressed during the S-phase of the cell cycle, hence their definition as replication-dependent histone genes. In contrast, expression of replacement histone genes is essentially cell-cycle independent; they are solitary genes and map outside the major clusters. The newly described H3 gene maps outside all known histone gene clusters and varies by four amino acid residues from the consensus mammalian H3 structure. In contrast to other solitary histone genes, this human H3 gene shows the consensus promoter and 3' flanking portions that are typical for replication-dependent genes.

Base Sequence↗
PubMed1996

Six new polymorphic microsatellite markers used for the integration of genetic and physical maps of human chromosome 7.

We report the isolation and characterization of six new polymorphic dinucleotide repeat microsatellite markers (D7S1491, D7S1492, D7S1493, D7S1494, D7S1495, and D7S1496), their integration into the genetic map of human chromosome 7 by analysis of 40 CEPH (Centre d'Etude du Polymorphisme Humain) pedigrees, and their use for integration of physical and genetic maps of this chromosome.

Alleles↗
PubMed1996

Prevalence of abnormal Pap smears in rural family practice.

The purpose of this study was to examine the prevalence of abnormal Pap smears in rural family practice, to compare this to the published literature, and to determine if the prevalence of abnormalities is higher in the younger age group (<=35 years of age). A retrospective chart audit was performed on all Pap smears from four rural family practice sites during a 12-month period. Data collected were Pap smear result, patient's age, and interval since previous Pap smear. Statistical analysis was used to determine if the prevalence of abnormal Pap smears was consistent among the practices as well as similar to the three larger published studies. Also, chi-square analysis was used to compare the prevalence of abnormal Pap smears in the younger (<=35 years of age) versus the older (>35 years of age) age groups. There were 2,891 Pap smears reviewed, with 782 (27%) recorded as abnormal. The prevalence of cervical intraepithelial neoplasia (CIN) (76 or 2.6%) was compared to the published literature and was found to be statistically significantly higher (chi square=772.194, P=0.000). The prevalence of abnormal Pap smears was higher in the younger than age 35 group when compared to the older than age 35 age group (chi square=20.953, P=0.000). Pap smear interval and age varied between the four practice sites, but the prevalence of CIN was not statistically different (chi square=3.154, P=0.368). The results of this study suggest that rural family physicians may encounter abnormal Pap smears at rates similar to those reported in the literature. This study also suggests that the prevalence of abnormal Pap smears may be higher in the younger groups in this population.

Adult↗
PubMed1996

Status and transcriptional activity of a bovine-papillomavirus-I-based expression vector in a recombinant production cell line.

We have analysed the status and transcriptional activity of the bovine papillomavirus-I (complete BPV-I genome)-based expression vector pCES in CI27i-cell-line-derived 3TI cells used for the industrial production of recombinant human erythropoietin (rhuEpo). Complete tandem head-to-tail integration of about 600 vector copies at a single site of the cellular genome was observed. Deletions, insertions or rearrangements of pCES-specific sequences or extrachromosomal copies of vector sequences were not detected. Transcriptional analyses demonstrated that rhuEpo was abundantly expressed. BPV-I early transcription was detected, as expected from a BPV-I-transformed cell line; however, compared with the mouse metallothionein-I-promoter-driven rhuEpo-specific transcription, it was very weak. Late BPV-I transcription was also not detected in 3TI cells under conditions of large-scale rhuEpo production. Therefore this expression system proved to be safe and suitable for the production of rhuEpo.

Animals↗
PubMed1995

[Causes and consequences of an unbalanced vaginal ecosystem].

The vaginal microflora of a healthy asymptomatic woman is part of a dynamic ecosystem which is easily disturbed by known and unknown factors. The normal vaginal microflora consists of a broad spectrum of aerobic and anaerobic germs. The anaerobic microaerophilic Doederlin's bacillus (lactobacillus) plays a major role in the microflora, but is only one of the many factors controlling and tuning a well-balanced ecosystem. Although our understanding is still insufficient, basic knowledge of the ecosystem and new results lead to a successful therapeutic approach.

Bacterial Adhesion↗
PubMed1995

The human replacement histone H3.3B gene (H3F3B).

H3.3 is a replacement histone subtype that is encoded by two replication-independent genes termed H3.3A and H3.3B, respectively. We have isolated a fullsize H3.3 cDNA clone from an oligo(dT)-primed human testicular cDNA library. Subsequently, the corresponding gene was isolated from a human cosmid library and was identified as the H3.3B gene. It was the only histone gene on this 42-kb cosmid clone. The gene structure shows characteristic features of an H3.3 gene. First, it contains an intron of about 0.5 kb in the 5' untranslated region and two smaller introns within the coding gene portion. Second, no histone gene-specific dyad symmetry element was found in the 3' untranslated region, but three putative polyadenylation signals were detected downstream of the gene. The corresponding transcripts were detected by Northern blot analysis using poly(A)+ RNA from testis and from the HEK293 tumor cell line. The newly discovered human H3.3B gene (HGMW-approved symbol H3F3B) was mapped by fluorescence in situ hybridization to the telomeric region of chromosome 17 (17q25). This localization of the H3.3B gene and its solitary arrangement contrast with the majority of the replication-dependent histone genes, which form a large cluster on chromosome 6 and a second cluster on chromosome 1.

Amino Acid Sequence↗
PubMed1995

[Study on the pretherapeutic differential diagnosis of adnexal tumors].

How well do clinical examination, laboratory testing and imaging techniques predict the malignant or benign characteristics of an adnexal tumor before surgery? 60 patients underwent an extensive preoperative work-up including serum levels of gonadotropins, adrenal and ovarian steroids, oncofetal and placental antigens and CA 125. Sensitivity and specificity of laboratory criteria, including CA 125, compared unfavorably with others and are of no use in early diagnosis of ovarian malignancies. The differential diagnosis of adnexal tumors is primarily a matter of PV examination and ultrasound.

Adolescent↗
PubMed1995

Cyclophilin A, the major intracellular receptor for the immunosuppressant cyclosporin A, maps to chromosome 7p11.2-p13: four pseudogenes map to chromosomes 3, 10, 14, and 18.

Cyclophilin A (CyP-A), the major intracellular receptor for the immunosuppressant cyclosporin A (CsA), is a member of the immunophilin class of proteins, which all possess peptidyl-prolyl cis-trans isomerase activity and, therefore, are believed to be involved in protein folding and/or intracellular protein transport. The CyP-A protein is encoded by a single gene; in addition, 15 pseudogenes have been identified. Recently, specific binding of CyP-A to the human immunodeficiency virus type 1 (HIV-1) gag protein has been reported. Interestingly, this interaction can be inhibited by the immunosuppressant CsA and also by nonimmunosuppressive, CyP-A-binding CsA derivatives, which were also shown to exhibit potent anti-HIV-1 activity. Results thus indicate that CyP-A may have an essential function in HIV-1 replication. Using a panel of somatic rodent-human cell hybrids and PCR technology, we localized the coding cyclophilin A gene (PPIA) on chromosome 7 and four pseudogenes (PPIP2, PPIP3, PPIP4, and PPIP6) on chromosomes 14, 10, 18, and 3, respectively. Using chromosome 7 and chromosome 10 deletion hybrid panels, we were able to localize further the coding gene to the region 7p11.2-p13, as confirmed by fluorescence in situ hybridization analysis, and one pseudogene (PPIP3) to the region 10q11.2-q23. This is the first report on the regional mapping of members of the CyP-A gene family.

Amino Acid Isomerases↗
PubMed1995

Visualization of the conservation of synteny between humans and pigs by heterologous chromosomal painting.

By comparative gene mapping, extended conservation of synteny between different mammalian species has become apparent. Mapping in these species could be accelerated by exact visualization of the chromosomal segments that exhibit conserved synteny. We have hybridized human chromosome-specific DNA libraries onto porcine metaphase spreads to examine the extent of conservation of synteny between the two species. The hybridization signals on pig chromosomes are of variable quality, but the analysis allowed us to assign for all human autosomes homologous chromosomal segments in the pig karyotype. Extended conservation of synteny was observed, often comprising whole chromosomes. In our analysis 47 segments of conserved synteny common to the human and pig karyotype were identified. Intrachromosomal rearrangements by inversion within and between these segments are described. These rearrangements are common events during evolution. Our analysis shows that conservation of synteny between human and pig is three times more than between humans and mice and, consequently, is characterized by fewer, but larger conserved segments.

Animals↗
PubMed1995

The breakpoint on 7p in a patient with t(6;7) and craniosynostosis is spanned by a YAC clone containing the D7S503 locus.

We previously reported a patient with an apparently balanced t(6;7) translocation and craniosynostosis. We now demonstrate, by fluorescence in situ hybridization, that the yeast artificial chromosome clone 933-e-1 from the Centre d'Etude du Polymorphisme Humain library harbouring the D7S503 locus spans the breakpoint on distal 7p. Recent reports have defined a candidate region for a Saethre-Chotzen craniosynostosis locus between the loci D7S513 and D7S516, a region that includes the D7S503 locus. Since the translocation carrier shows only some of the symptoms characteristic for the Saethre-Chotzen syndrome, it remains unresolved whether the gene disrupted by the translocation event is the only one causing craniosynostosis in this chromosomal region.

Child, Preschool↗
PubMed1995

[Sarcomatoid carcinoma of the bladder in a 25-year-old man].

A 25-year-old patient with a rapidly growing sarcomatoid carcinoma of the urinary bladder is reported. The diagnosis was made on the basis of extended atypical proliferations of spindle or pleomorphic cells in the area of pelvic floor and the radix of the penis. The tumor showed invasion of the blood and a high Ki-67 growth fraction up to 40%. Immunohistochemically, the reactions with antibodies against cytokeratin, EMA, and vimentin were positive, while negative results were obtained in reactions with antibodies against desmin, actin, PSA, S 100, human epithelial antigen (Ber-EP4), and cytokeratin 13. The differential diagnosis against myosarcomas, pseudosarcomatous lesions, and inflammatory pseudotumours is discussed. After radical surgery a pelvic recurrence and pulmonary metastases developed, which led to the patient's death 3 months later. This case shows that sarcomatoid carcinomas of the urinary bladder can be found even in young people.

Adult↗
PubMed1995

Changes in the expression pattern of blood-brain barrier-associated pericytic aminopeptidase N (pAP N) in the course of acute experimental autoimmune encephalomyelitis.

The role of cerebral pericytes in blood-brain barrier (BBB) mechanisms is still a matter of controversy. Because acute experimental autoimmune encephalomyelitis (EAE) is characterized by a transient and focal perturbation of the BBB, we have utilized the model of adoptive transfer EAE to correlate the expression of the pericytic aminopeptidase N (pAP N) with the acute functional state of the BBB. We demonstrate that a significant downregulation of microvascular pAP N expression occurs, and the observed perturbation of the enzymatic BBB complement seems to be a sustained effect which persists even after recovery from clinical disease. At the peak of clinical disease, numerous pAP N expressing invasive cells were detected in white matter of the lumbar spinal cord. Through the use of a panel of different immunocytochemical markers these pAP N-immunopositive cells were characterized as ED 1-positive, most likely hematogenous macrophages. Activated resident microglial cells participate in the EAE-induced inflammatory process to only a minor extent.

Acute Disease↗
PubMed1995

An arrayed library enriched in hncDNA corresponding to transcribed sequences of human chromosome 19: preparation and analysis.

A simple technique for preparation of libraries of the human chromosome specific transcribed sequences is developed. It uses hnRNA from human-rodent hybrid cell lines containing particular human chromosomes or their fragments and includes three stages: (i) reverse transcription of the hnRNA with Alu-specific primers directing the transcription beyond the Alu-repeats to flanking non-repetitive sequences of the chromosome; (ii) nested primer PCR strategy with specifically designed primers; (iii) direct selective cloning of the second-stage nested primer PCR products. An arrayed hncDNA library was prepared from a hybrid cell line containing chromosome 19 and fragments of 22 and X chromosomes. The library contains around 98% of human-specific transcribed sequences. Sequences of 52 human-specific, according to PCR analysis, clones differed from each other and had no close analogs in the EMBL Data Bank. Of 17 clones assigned to certain human chromosomes, 9 belonged to chromosome 19, 5 to chromosome 22 and 3 to chromosome X. Some of the human specific clones contained repetitive elements scattered over different human chromosomes. Clones from hncDNA libraries are useful as STSs/ESTs, as probes for detecting full-size genes in genomic libraries, for RFLP analysis and for identification of chromosome specific cDNAs.

Animals↗
PubMed1995

Management of severe blood loss after tumor resection in a Jehovah's Witness.

This report describes the peri- and postoperative management of a patient with a critical blood loss (hemoglobin of 22 g/l) as a consequence of a surgical intervention, i.e. a radical resection of an advanced malignant gynecological tumor. The patient refused autologous and homologous blood transfusions for religious reasons (Jehovah's Witness). During surgery, hemodilution and cell salvage were used. Postoperatively she developed coagulopathy and hemorrhage with the lowest hemoglobin value of 22 g/l. The patient recovered under a therapy regimen of recombinant human erythropoietin and parenteral iron. The hemoglobin values returned to the lower normal range within 4 weeks. Consequences of hypoxia could not be seen.

Adult↗