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M J Wagner

Publications and source records attributed to M J Wagner.

At least 37 records · Page 2Linked to original sources
PubMed1996

A 3.1-Mb YAC contig within the Werner syndrome region, on the short arm of human chromosome 8.

The locus for Werner syndrome (WRN) has been localized to human chromosome 8p21 --> p12, close to the anonymous marker D8S339. A 3.1-Mb contig of yeast artificial chromosomes (YACs) was assembled around D8S339. Results from analyses of somatic cell hybrids, FISH, and physical mapping suggest the following loci order: tel-NEFL-D8S131-D8S339-[D8S540/GSR]-D8S124 -D8S259-D8S87-FGFR1-cen. Close physical linkage between D8S540 and GSR was established within a DNA fragment of 200 kb. These two loci are not more than 400 kb from D8S339. In addition, D8S339, D8S540, D8S124, and GSR are within 1.1 Mb. These data establish a primary physical map of the Werner syndrome region and identify useful YAC clones for the isolation of new markers and of the corresponding gene.

Chromosome Mapping↗
PubMed1995

Phenotypic manifestations of branchio-oto-renal syndrome.

Branchiootorenal (BOR) syndrome is a variable, autosomal-dominant disorder of the first and second embryonic branchial arches, kidneys, and urinary tract. We describe the phenotype in 45 individuals, highlighting differences and similarities reported in other studies. Characteristic temporal bone findings include cochlear hypoplasia (4/5 of normal size with only 2 turns), dilation of the vestibular aqueduct, bulbous internal auditory canals, deep posterior fossae, and acutely-angled promontories.

Abnormalities, Multiple↗
PubMed1995

Construction of 110 cosmid markers and a 4.5-Mb YAC contig on human chromosome 8p12-q11.

Microcell hybrids containing various regions of human chromosome 8 were formed by microcell-mediated transfer of neo-tagged chromosome 8 into the cells derived from severe combined immunodeficiency (SCID) mouse. Thus, 110 cosmid markers were isolated from SV40-transformed SCID fibroblast cell line (SCVA) containing a p12-q11.1 region of human chromosome 8 and were assigned to eight regions in 8p12-q11.1, using a microcell-hybrid panel. For positional cloning of a human gene that restores the DNA-repair defect in a mouse with SCID on 8p11.1-q11.1 (SCID region), we constructed a yeast artificial chromosome (YAC) contig of about 4.5 Mb. Overlapping YACs were further aligned by restriction mapping, using rare-cutting restriction endonucleases. The cosmids and YAC contig should facilitate isolation of the SCID gene and other genes, such as the Werner syndrome-responsible gene in or near this region.

Animals↗
PubMed1995

Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1).

Hereditary multiple exostoses is an autosomal dominant disorder that is characterized by short stature and multiple, benign bone tumours. In a majority of families, the genetic defect (EXT1) is linked to the Langer-Giedion syndrome chromosomal region in 8q24.1. From this region we have cloned and characterized a cDNA which spans chromosomal breakpoints previously identified in two multiple exostoses patients. Furthermore, the gene harbours frameshift mutations in affected members of two EXT1 families. The cDNA has a coding region of 2,238 bp with no apparent homology to other known gene sequences and thus its function remains elusive. However, recent studies in sporadic and exostosis-derived chondrosarcomas suggest that the 8q24.1-encoded EXT1 gene may have tumour suppressor function.

Amino Acid Sequence↗
PubMed1995

Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome.

The Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II, TRPS II) is characterized by craniofacial dysmorphism and skeletal abnormalities. It combines the clinical features of TRPS I and multiple cartilaginous exostoses (EXT). We have used YAC cloning, Southern blotting, PCR analysis, and fluorescence in situ hybridization to study chromosome 8 deletions, translocations, an inversion, and an insertion in patients with TRPS I, TRPS II or EXT. Our results indicate that the TRPS gene maps more than 1,000 kb proximal to the EXT1 gene and that both genes are affected in TRPS II. We conclude that TRPS II is not due to pleiotropic effects of mutations in a single gene, but that it is a true contiguous gene syndrome.

Base Sequence↗
PubMed1995

Abrasive particles in tobacco products: a possible factor in dental attrition.

Tobacco products are known to cause oral soft-tissue lesions, but they may also directly affect the teeth. Abrasive particles contained in tobacco products may contribute to dental attrition. We studied tobacco samples from 16 brands of cigars, eight brands of snuff, four brands of chewing tobacco and several unprocessed tobacco leaves used as cigar wrappers. Insoluble particulate matter made up about 0.5 percent of the weight of an average tobacco sample.

Electron Probe Microanalysis↗
PubMed1995

BMP-1 sublocalization on human chromosome 8. Molecular anatomy and orthopaedic implications.

Bone morphogenetic proteins are capable of inducing mesenchymal tissue to form mature bone. Bone morphogenetic protein 1 (BMP-1) has a structure unique from the other bone morphogenetic proteins and may be involved in activation of other bone morphogenetic proteins. Localization of the human BMP-1 gene to chromosome 8 led to its consideration as a candidate gene for Langer-Giedion syndrome. Individuals with Langer-Giedion syndrome (also known as trichorhinophalangeal syndrome Type II) exhibit several skeletal abnormalities, including multiple exostoses and cone-shaped epiphyses of the hands and feet. The genetic locus responsible for this disease has been localized to the long arm of human chromosome 8 at 8q24.1. Somatic-cell hybrid and molecular biology techniques were used to sublocalize the BMP-1 gene to the short arm of chromosome 8 within the 8p22-cen region. Although this locus falls outside the Langer-Giedion syndrome region, and therefore excludes BMP-1 as a candidate gene for this disorder, BMP-1 gene sublocalization establishes a chromosomal landmark for evaluating other possible disease associations with BMP-1.

Animals↗
PubMed1994

Integrated mapping analysis of the Werner syndrome region of chromosome 8.

The Werner syndrome locus (WRN) is located at 8p11-p12. To facilitate eventual cloning of the WRN gene, a 10,000-rad radiation-reduced hybrid (RH) cell panel was generated to map genetic markers, sequence-tagged sites (STSs), and genes in this region. A hamster cell line carrying an intact human chromosome 8 was fused with another hamster cell line. Two sets of hybrid cell panels from 2 separate fusions were generated; each panel consisted of 50 independent clones; 33 and 34 cell lines from the 2 fusions retained human chromsome material as determined by inter-Alu PCR. The combined panel was genotyped for 52 markers spanning the entire chromosome, including 10 genes, 29 anonymous polymorphic loci, and 13 STSs. Seventeen of these markers have not been previously described. Markers near the centromere were retained at a higher frequency than more distal markers. Fluorescence in situ hybridization was also used to localize and order a subset of the markers. A RH map of the WRN region was constructed using a maximum likelihood method, giving the following most likely order: D8S131-D8S339 (GSR)-D8S124-D8S278-D8S259-(D8S71)-D8S283- D8S87-D8S105-D8S135 (FGFR1)-D8S135PB-D8S255-ANK1. A genetic map of 15 short tandem repeat polymorphic loci in the WRN region was also constructed. The marker orders from the genetic and RH maps were consistent. In addition, an integrated map of 24 loci in the WRN region was generated using information from both genetic and RH mapping methods. A 1000:1 framework map for 6 loci (LPL-D8S136-D8S137-D8S87-FGFR1-ANK1) was determined by genetic mapping, and the resulting locus order was fixed during analysis of the RH genotype data. The resulting integrated map contained more markers than could confidently be ordered by either genetic or RH mapping alone.

Base Sequence↗
PubMed1994

Alignment of physical and genetic maps of human 8q23-qter using somatic cell hybrid mapping panel.

We describe a mapping panel for the 8q23-qter region composed of human-hamster hybrid cell lines carrying deletion and translocation derivatives of human chromosome 8. The panel divides this region of the chromosome into nine intervals and has been used to map 40 loci by Southern blot hybridization and PCR. Use of this mapping panel has allowed us to align the terminal portions of two different genetic maps of chromosome 8 with each other and with the physical map of the chromosome.

Animals↗
PubMed1993

The human C/EBP delta (CRP3/CELF) gene: structure and chromosomal localization.

In an attempt to identify C/EBP-like transcription factors expressed in the prostate, a cDNA homologous to the mouse C/EBP delta (CRP3) and the rat CELF gene was isolated. A genomic clone containing the entire C/EBP delta gene was isolated using a cDNA fragment as a probe. The gene was characterized by restriction mapping and sequence analysis. By fluorescence in situ hybridization, using the biotinylated genomic clone as a probe, the C/EBP delta gene was assigned to the pericentromeric region of human chromosome 8, most probably to 8q11. This chromosomal localization was confirmed by analysis of a panel of human x hamster somatic cell hybrid DNA samples with a C/EBP delta-specific STS. As a result, the C/EBP delta gene could be positioned between the PLAT and the MOS loci.

Amino Acid Sequence↗
PubMed1992

Effects of coaxial CO2/Nd:YAG irradiation on periodontal wound healing.

This study evaluated a coaxial CO2/Nd:YAG laser used during periodontal surgery in mongrel dogs for the purpose of ablating the osseous portions of root surfaces to increase reattachment of soft tissue. Periodontal defects were produced with ligatures of orthodontic wire and elastics. The left mandibular osseous root surfaces were irradiated with a defocused, CW laser beam [power density (PD) = 42.46 W/cm2, energy density (ED) = 424.63 J/cm2]. The left maxillary osseous root surfaces were treated with a beam at twice the energy density [PD = 84.93 W/cm2, ED = 849.3 J/cm2]. The mandibular right quadrant received conventional surgery and the maxillary right quadrant served as the untreated control. Fourteen days after treatment, facial/lingual attached gingivae were scored for soft tissue adherence to bone. Laser irradiation at low ED did not improve soft tissue attachment when compared to conventional treatment. Higher ED irradiation produced significantly less attachment and increased tissue necrosis.

Aluminum Silicates↗
PubMed1992

Effect of laser-etch on bond strengths of glass ionomers.

This study evaluated the bond strength between glass ionomer cements and laser-etched dentin. Extracted human molars were sectioned sagittally, creating a flat surface. Samples were shear tested on an Instron testing machine, and mean bond strengths were recorded; statistical analyses indicated no significant differences between the Ketac cements. The bond strengths of both Ketac cements were significantly decreased when applied to laser-etched dentin, but bond strengths of Fuji-II were substantially elevated compared with the control values.

Acid Etching, Dental↗
PubMed1992

Pulpal effects of argon: fluoride excimer laser irradiation and acid-etching of rat molar enamel.

The reaction of enamel, dentine and pulpal tissues to exposure from a laser beam has been shown to depend on the type of laser medium used. The objective of this study was to examine the pulpal response in rat molars after external enamel surface treatment with either an Ar:F excimer laser or acid-gel application. Maxillary right molar occlusal surfaces in 22 animals were irradiated (energy density = 45.0 J/cm2). Maxillary left molar occlusal surfaces were treated with 37 per cent phosphoric acid for 30 s. Untreated mandibular right molars served as controls. At two postoperative time periods (1 and 6 weeks), molars were removed, sectioned, stained (H&E) and scored. Data analysis indicated no significant difference between Ar:F irradiation and controls at 1 week. Treatment with laser or acid-etching left a similar degree of pathosis at 1 and 6 weeks. Although the Ar:F excimer laser produced a more exaggerated pulp response than controls at 6 weeks, tissue vitality was maintained. The Ar:F excimer laser may be useful for ablating vital tooth structure since pulpal tissue in rat molars exhibited no damage in response to low-power irradiation.

Acid Etching, Dental↗
PubMed1992

Sequence, higher order repeat structure, and long-range organization of alpha satellite DNA specific to human chromosome 8.

We have characterized alphoid repeat clones derived from a chromosome 8 library. These clones are specific for human chromosome 8, as demonstrated by use of a somatic cell hybrid mapping panel and by in situ hybridization. Hybridization of the clones to HindIII digests of human genomic DNA reveals a complex pattern of fragments ranging in size from 1.3 to greater than 20 kb. One clone, which corresponds in size to the most prevalent genomic HindIII fragment, appears to represent a major higher order repeat in the chromosome 8 centromere. The DNA sequence of this clone reveals a dimeric organization of alphoid monomers. Restriction analysis of two other clones indicates that they are derivatives of this same repeat unit. The chromosome 8 alphoid clones hybridize to EcoRI fragments of genomic DNA ranging up to 1000 kb in length and reveal a high degree of polymorphism between chromosomes. Distribution of higher order repeat units across the centromere was examined by two-dimensional gel electrophoresis. Repeat units of the same size class tended to cluster together in restricted regions of centromeric DNA.

Base Sequence↗