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C Jones

Publications and source records attributed to C Jones.

At least 397 records · Page 22Linked to original sources
PubMed1993

Mapping the sheep genome: production of characterized sheep x hamster cell hybrids.

Specific chromosomes of sheep have been selectively "captured" in hamster x sheep cell hybrids produced by fusing different Chinese hamster auxotrophs with lymphocytes from sheep carrying normal or Robertsonian translocation chromosomes. A minipanel has been established comprising sheep chromosomes 1; 3; t1 = rob(6;24); t2 = rob(9;10); and X in a predominantly monochromosomal state. Using this targeted cell fusion approach the nutritional markers, uridine monophosphate synthetase (UMPS), mapped onto human chromosome 3 (HSA3), phosphoribosylglycinamide synthetase, and phosphoribosylaminoimidazole synthetase (GART) (HSA21), are reported to be located on sheep chromosome 1q; and phosphoribosyl pyrophosphate amidotransferase (PPAT) (HSA4) has been assigned to sheep chromosome 6. By isozyme analysis and Southern hybridization, transferrin (TF) and superoxide dismutase 1 (SOD1), both in the bovine syntenic group U10, were assigned to sheep chromosome 1q; adenylate kinase 1 (AK1), in the bovine syntenic group U16, to sheep chromosome 3p; lactate dehydrogenase B (LDHB) and phenylalanine hydroxylase (PAH) on bovine chromosome 5 (BTA5) to sheep chromosome 3q; phosphoglucomutase 2 (PGM2) (bovine syntenic group 15) to sheep chromosome 6 (t1q); avian myelocytomatosis viral oncogene homolog (MYC) and Moloney murine sarcoma viral oncogene homolog (MOS) (BTA 14) to sheep 9 (t2q); and glutathione reductase (GSR) (bovine syntenic group U14) to sheep 24 (t1p).

Animals↗
PubMed1993

Isolation of region-specific cosmids by hybridization with microdissection clones from human chromosome 10q11.1-q21.1.

A region-specific plasmid library composed of 20,000 recombinants was constructed by microdissection of human chromosome 10 (10q11.2-q21.1) and subsequent amplification with the primer-linker method of polymerase chain reaction (PCR). Hybridization with total human DNA showed that 32 of 217 microclones studied contained highly repetitive sequences. Further analysis of the remaining 185 microclones proved that 43 microclones, each having an insert longer than 200 bp, contained unique sequences of human chromosome 10 origin. Twenty-five microclones randomly selected from the 43 were used directly as probes to isolate corresponding cosmid clones, resulting in 32 cosmids corresponding to 14 microclones. Of the 25 cosmids that could be mapped by fluorescence in situ hybridization, 24 proved to originate from the microdissected or adjacent region (10p11.2-q22.3) and 1 from a rather distal region (10q24.3-q25.1). In addition, 15 of the 32 cosmids revealed restriction fragment length polymorphisms, including 1 with a variable number of tandem repeats marker. The microdissection library and the obtained cosmids are valuable resources for constructing high-resolution physical and linkage maps of the pericentromeric region of chromosome 10, where the gene predisposing to multiple endocrine neoplasia type 2A (MEN2A) has been mapped.

Base Sequence↗
PubMed1993

Localization of the gene for the ciliary neurotrophic factor receptor (CNTFR) to human chromosome 9.

Ciliary neurotrophic factor (CNTF) has recently been found to be important for the survival of motor neurons and has shown activity in animal models of amyotrophic lateral sclerosis (ALS). CNTF therefore holds promise as a treatment for ALS, and it and its receptor (CNTFR) are candidates for a gene involved in familial ALS. The CNTFR gene was mapped to chromosome 9 by PCR on a panel of human/CHO somatic cell hybrids and localized to 9p13 by PCR on a panel of radiation hybrids.

Amyotrophic Lateral Sclerosis↗
PubMed1993

Subregional physical mapping of an alpha B-crystallin sequence and of a new expressed sequence D11S877E to human 11q.

We report the regional assignment on Chromosome (Chr) 11q of two cDNA clones selected as sequences expressed in mature kidney and not expressed in Wilms' tumor. Clone T70 was identified as an alpha B-crystallin sequence (CRYA2). CRYA2 has previously been mapped to 11q22.3-23.1 by in situ hybridization. Clone 6.2 represents a new gene expressed in adult and fetal kidney, pancreas, and liver. In order to map sequences corresponding to clone 6.2 and to physically define the boundaries of the localization of CRYA2, we used somatic cell hybrids carrying either different human chromosomes or Chr 11 segments and a cell line established from a patient with an interstitial deletion of region 11q14.3-q22.1. We showed that CRYA2 lies proximal to the 11q23.2 breakpoint defined by the constitutional t(11;22) and distal to the 11q22.1 breakpoint (between D11S388 and D11S35) of a constitutional interstitial deletion. This is in agreement with previous data obtained by in situ hybridization and provides proximal and distal physical benchmarks for this localization. Clone 6.2-related sequence (D11S877E) was assigned to region 11q23.2-q24.2 defined by the breakpoints of the constitutional t(11;22) and of the Ewing's sarcoma neuroepithelioma t(11;22).

Animals↗
PubMed1993

Regional mapping of the gene encoding dihydroorotate dehydrogenase, an enzyme involved in UMP synthesis, electron transport, and superoxide generation, to human chromosome region 16q22.

De novo UMP synthesis is a critical metabolic pathway for nucleic acid synthesis and for a variety of metabolic pathways. The pathway is a target for many widely used cancer chemotherapy agents, several of which are pyrimidine analogs. Humans and cattle have been described with mutations in UMP synthesis that lead to serious inborn errors of metabolism. Dihydroorotate dehydrogenase (EC 1.3.3.1) (DHODH) carries out the fourth committed step in the pathway and may also be important for mitochondrial electron transport and oxygen radical metabolism. We report here that the gene encoding this enzyme in humans is located in the chromosomal region 16q22. With the mapping of DHODH, the mapping of all the steps of UMP synthesis is complete. All three genes involved map to different human chromosomes. This information is important in consideration of regulation of UMP synthesis in mammals, including humans.

Base Sequence↗
PubMed1993

Effect of internal mammary harvest on postoperative pain and pulmonary function.

Forty-three patients undergoing median sternotomy were evaluated for postoperative pain and pulmonary function. Group 1 (n = 26) had harvest of the internal mammary artery (IMA) and group 2 (n = 17) did not. Postoperative pain and pulmonary function were evaluated on the fifth postoperative day. Both groups showed a decrease in forced expiratory volume in 1 second (group 1, 44%; group 2, 39%), but there was no significant difference in the loss between the two groups (p = 0.32). Using a numeric rating scale, there was significant increase in postoperative pain in group 1 (group 1, 6.35; group 2, 3.82; p = 0.0002). There is a suggestion that internal mammary artery harvesting itself worsens postoperative pulmonary function tests, and this may be related to a significant increase in postoperative pain.

Adult↗
PubMed1993

Infantile fibromatosis of the external genitalia: diagnosis and management strategy.

Infantile fibromatosis is a process that is difficult to distinguish from fibrosarcoma. It is found in neonates and infants but only rarely has it been reported to involve the external genitalia or scrotum. A 10-month-old boy is described with histologically proved infantile fibromatosis of the scrotum. Characteristics distinguishing infantile fibromatosis from fibrosarcoma and the appropriate management of this disease are presented.

Fibroma↗
PubMed1993

Molecular subtyping by genome and plasmid analysis of Campylobacter jejuni serogroups O1 and O2 (Penner) from sporadic and outbreak cases of human diarrhoea.

Ribosomal RNA gene patterns, randomly amplified polymorphic genomic DNA (RAPD) profiles and plasmid profiles were used to discriminate between 28 strains of Campylobacter jejuni serogroups O1 and O2 (Penner). Most isolates were biotype I (Lior). The strains were representative isolates from a UK school outbreak of enteritis (7 cases) and from 21 sporadic human cases of enteritis in 4 countries. The molecular techniques discriminated to various degrees between strains in each of the serogroups. The outbreak strains were homogeneous in most molecular features but a variety of types was detected amongst the isolates from the sporadic cases. Five groups of two or more strains with identical ribopatterns were identified and within each, strains from different patients were homogenous with respect to serogroup. RAPD profile typing based on numerical analysis generally matched ribotyping. Plasmid profiling overall gave least discrimination but was useful in separating some strains similar in other features. We concluded that optimal discrimination of C. jejuni could best be achieved using a combination of phenotypic and genotypic properties. Hae III ribotyping was the single most discriminatory and reproducible technique investigated. Several strains of C. jejuni from sporadic infections had similar molecular profiles which have potential for general typing purposes.

Bacterial Typing Techniques↗
PubMed1993

Analysis of a herpes simplex virus 2 fragment from the open reading frame of the large subunit of ribonucleotide reductase with transcriptional regulatory activity.

Expression of herpes simplex virus 2 (HSV-2)-encoded ribonucleotide reductase (RR) is required for growth in nondividing cells. The functional enzyme is composed of a large and a small subunit. In virus-infected cells, RR is expressed temporally as a delayed early protein. However, the promoter regulatory region of the large subunit can function as an immediate early promoter in transient transfection assays, suggesting that expression may be quite complex. In this study, a 95-bp fragment derived from the open reading frame of the large subunit of RR (RR-A) functioned as a silencer when placed adjacent to a heterologous promoter. If the fragment was placed distal to the promoter, repression was relieved and in human keratinocytes promoter activity was consistently higher than control constructs. Exonuclease III protection assays revealed that nuclear factors from human keratinocytes as well as other primate cells specifically bind to this fragment. A 30-bp motif containing a consensus SP-1 binding site and an alternating Pu/Py element was protected in all cell lines. These results suggest that a 95-bp fragment in the open reading frame of HSV-2 RR-A plays a role in regulating viral gene expression.

Animals↗
PubMed1993

Characterization of human keratinocytes transformed by high risk human papillomavirus types 16 or 18 and herpes simplex virus type 2.

Recent reports implicate two DNA tumour viruses, herpes simplex virus type 2 (HSV-2) and human papillomavirus types 16 or 18 (HPV-16 and -18), in the pathogenesis of cervical cancer. Previous studies have indicated that primary human fibroblasts transfected with HPV-16 and HSV-2 morphological transforming region III (mtr III) are more aneuploid than fibroblasts immortalized with HPV-16 and that HSV-2 DNA sequences are retained in transformed cells. Since HSV-2 and HPV typically infect cells of epithelial origin, the interactions of these viruses with respect to morphological transformation were examined in human keratinocytes. HPV-16- or HPV-18-immortalized keratinocytes (FEPL and FEA cells, respectively) were transfected with fragments derived from HSV-2 mtr III. When compared to their normal counterparts, FEPL cells and FEA cells transfected with mtr III fragments grew to higher saturation densities and were morphologically transformed. FEPL cells transformed by HSV-2 were capable of growth in soft agar and, when injected into nu/nu mice, lesions developed at the site of injection. Histological examination of the lesions revealed a benign mass which was composed of squamous epithelial cells that were producing keratin. In contrast, immortalized keratinocytes (FEPL or FEA) or FEA cells transfected with HSV-2 did not produce these lesions. These observations suggest that sequences within mtr III can alter the growth properties of human keratinocytes immortalized by HPV-16 or HPV-18.

Animals↗
PubMed1993

Genotypic typing and phylogenetic analysis of Salmonella paratyphi B and S. java with IS200.

Salmonella paratyphi B and Salmonella java are biovars of common serotype 1,4,[5],12:b:1,2 which respectively cause human paratyphoid fever and gastroenteritis. In order to define genotypes and phylogenetic relationships in this group, we examined representative strains for restriction fragment length polymorphisms (RFLPs) in and around the 16S ribosomal RNA (rrn) genes, and the five to eleven insertion sites of the Salmonella-specific DNA insertion sequence IS200. One of four 16S rrn profiles was predominant, and was shared by the majority of strains, irrespective of their designation as S. paratyphi B or S. java. On the other hand, thirteen unique IS200 profiles were found and this technique was able to distinguish, for the first time, distinct genotypes for S. paratyphi B and S. java. One of the S. paratyphi B profiles, Spj-IP1.0, represented a globally-distributed clone. Greater diversity was detected within IS200 profiles of S. java than within those of S. paratyphi B. IS200 profiles described a phylogenetic complex in which strains of both biovars could be placed. They constituted reproducible molecular fingerprints, which could be compared in a band-matching database suitable for molecular epidemiological typing.

Bacterial Typing Techniques↗
PubMed1993

Mapping of MYF5, C1R, MYHL, TPI1, IAPP, A2MR and RNR onto sheep chromosome 3q.

Five new loci, myogenic factor 5 (MYF5), complement 1 receptor (CIR), myosin-like heavy chain (MYHL), islet amyloid polypeptide (IAPP), and alpha-2-macroglobulin receptor (A2MR), were mapped onto sheep chromosome 3q by Southern hybridization to a panel of chromosomally characterized sheep x hamster cell hybrid lines. The location of the triose phosphate isomerase (TPI1) gene and one of the nucleolar organizer regions (RNR) on sheep 3q was confirmed by Southern analysis. This study provides further evidence for the existence of a large conserved chromosomal segment comprising much of sheep chromosome 3q, cattle chromosome 5, and human chromosome 12. The distal evolutionary breakpoint on human chromosome 12, producing the chromosomal segment U23 in cattle marked by aldehyde dehydrogenase (ALDH2), also produces a separate segment in sheep. Neither ALDH2 nor pancreatic lipase (PLA2), which is also distally located on human chromosome 12, were mapped onto sheep chromosome 3q.

Amyloid↗
PubMed1993

Laparoscopy for the non-palpable testis: a review of twenty-eight patients (1988-90).

The applications of laparoscopy as a diagnostic and therapeutic tool are being continually expanded and applied to the younger patient. In this study, 28 boys with 32 non-palpable testes underwent laparoscopy as part of their management. The patients' ages ranged from 10 months to 13 years. There was one failed laparoscopy and one minor complication. Blind ending vas deferens and vessels proximal to the deep inguinal ring were noted in six patients and no viable testes were found in these boys. Five abdominal testes were noted; three underwent scrotal fixation, one was excised after failed Fowler-Stephens orchidopexy and one had a staged procedure. Twenty-one non-palpable testes were noted on laparoscopy to have the vas deferens and vessels entering the inguinal canal; of these, 12 were atrophic on inguinal exploration. The remaining nine testes were successfully fixed in the scrotum. This study concludes that laparoscopy is a safe and effective part of the management of the non-palpable testis. The advantages of laparoscopy in the localization of the testis and its potential uses in treatment are highlighted.

Child↗
PubMed1993

Mouse beta-globin DNA-binding protein B1 is identical to a proto-oncogene, the transcription factor Spi-1/PU.1, and is restricted in expression to hematopoietic cells and the testis.

The hematopoietic-specific DNA-binding protein B1 binds to the DNA consensus sequence AAAGRGGAARYG located twice in intervening sequence 2 of both of the mouse beta-globin genes (D. L. Galson and D.E. Housman, Mol. Cell. Biol. 8:381-392, 1988). B1 was cloned by expression of a murine erythroleukemia (MEL) cell cDNA library in transfected COS cells and screening by electrophoretic mobility shift analysis. B1 is identical to the proto-oncogene Spi-1/PU.1 (Spi-1), an ets family member. Protein-DNA contacts are shown to resemble those of the helix-turn-helix homeodomain proteins. By Northern (RNA) analysis, we found that Spi-1 mRNA is present at low levels during murine CFU-E maturation and is at least 20-fold higher in uninduced MEL, a transformed proerythroblast-like cell line which contains an activating/transforming insertion of spleen focus-forming virus at the Spi-1 locus. Dimethyl sulfoxide-induced MEL cell differentiation decreases Spi-1 mRNA to approximately 20% of the uninduced level before commitment occurs. In addition to erythroid cells, Spi-1 mRNA is present in B cells, myelomonocytes, and mast cells but not in T cells and nonhematopoietic cell types. In situ hybridization demonstrated Spi-1 mRNA expression in bone marrow, spleen, interstitial nonhepatocytes of the liver, and interstitial nontubular cells of the testis. The Spi-1 locus was mapped on human chromosome 11 to the same interval as ACP2 (lysosomal acid phosphatase), between the anonymous DNA markers D11S33 and D11S14. This region has not yet been found to be associated with a human malignancy.

Amino Acid Sequence↗
PubMed1993

Deaths and necropsies in a thoracic unit.

BACKGROUND: There is concern about the decrease in the number of requests for necropsies, so a study was undertaken to assess current clinical practice. METHOD: A prospective study was made of all deaths occurring under the care of five chest physicians and three thoracic surgeons at East Birmingham Hospital from 1 April to 30 June 1989. RESULTS: A necropsy was sought in 34 of 58 deaths (59%) and was performed in 22 instances (38%). Major unexpected findings which would have affected clinical management were noted in three patients (14%). The mean delay in reporting results of histological examinations was 146 days (range 41-260 days). As the result of an increase in pathology technical staff levels and alteration in the practice of processing histological data, there was a substantial improvement during the corresponding period in 1990 (mean reduction 58 days, 95% confidence limits 39-77 days). Apart from patients with histologically proved carcinoma, there was no consistent pattern for requests for necropsies. CONCLUSIONS: Necropsies continue to reveal diagnoses which were not suspected while the patient was alive. Although the number of requests made by clinical staff for necropsies is reasonable, the reasons for the requests are not consistent. Guidelines are suggested to improve the number of successful requests and to maximise the information obtained from them.

Autopsy↗
PubMed1993

Reassessment of breakpoints in chromosome 11p15.

Specific tumor-associated rearrangements involving the regions 11p13 and 11p15 have been extensively documented. However, cytogenetic definition of the breakpoints occurring at the boundaries of these two regions was not precise enough to correlate with the molecular data. Using probes corresponding to the genes coding for MYOD1, CTSD, LDHA, and RBTN1 and to the anonymous sequence D11S776, we have reassessed the breakpoints of three hybrids (J1.10, BID7, and NYX3.1) and confirmed the localization or more precisely mapped these four genes and the anonymous DNA marker on different subregions of 11pter-->p13, including the smallest region of 11p15.5 duplicated in a patient with Beckwith-Wiedemann syndrome.

Animals↗
PubMed1993

Dominant and nondominant negative C-erbA beta 1 receptors associated with thyroid hormone resistance syndromes augment 12-O-tetradecanoyl-phorbol-13-acetate induction of the collagenase promoter and exhibit defective 3,5,3'-triiodothyronine-mediated repression.

C-erbA receptors and v-erbA have been shown to functionally interact with 12-O-tetradecanoyl-phorbol-13-acetate (TPA)-inducible gene expression. These proteins enhance trans-activation by c-jun, and the c-erbA receptors in the presence of thyroid hormone repress TPA and c-jun induction of transcription. Also, v-erbA can abrogate T3-mediated repression. We have examined how dominant negative (S and CL) and nondominant negative (G-H) receptors cloned from various patients with thyroid hormone resistance syndromes affect expression of the collagenase promoter induced with TPA. The CL receptor (ARG315HIS mutation) has a 2-fold reduction in T3-binding affinity compared with human c-erbA beta 1 wild-type (WT) receptor, whereas the G-H receptor (ARG311HIS) and S receptor (deletion, THR codon 332) have T3-binding affinities reduced by 100-fold and greater than 100-fold, respectively. These mutant receptors were cotransfected with a collagenase promoter (-1200 to +63 base pairs) chloramphenicol acetyltransferase reporter gene (Col-CAT) into COS-7 cells. Levels of CAT reporter gene expression after transient transfection were determined in the presence or absence of 3-10 nM T3 and the presence or absence of 100 nM TPA. Unoccupied CL receptor and G-H and S receptors stimulated TPA-induced Col-CAT expression 1.5- to 9-fold. The CL receptor with thyroid hormone totally repressed TPA induction of the collagenase receptor. In the presence of thyroid hormone, the enhancing effects by S and G-H receptors on TPA-induced Col-CAT expression were unaffected and minimally diminished, respectively.(ABSTRACT TRUNCATED AT 250 WORDS)

Amino Acid Sequence↗