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Biomedical subjects

J W Bare

Publications and source records attributed to J W Bare.

5 recordsLinked to original sources
PubMed1992

Loss of heterozygosity at chromosome 1q22 in basal cell carcinomas and exclusion of the basal cell nevus syndrome gene from this site.

Basal cell carcinomas, the most common human tumors, generally appear sporadically and in small numbers. Rarely, they may appear in great numbers and at an earlier age as a manifestation of the basal cell nevus syndrome, an autosomal dominant inherited disorder. Drawing on the retinoblastoma paradigm, we have begun a search for tumor suppressor genes important in the development of basal cell carcinomas by comparing DNA of tumors and normal cells. Loss of heterozygosity, a frequent marker of the site of tumor suppressor genes, was found at chromosome 1q in one-third of the tumors studied. However, comparison of the inheritance of DNA markers versus the inheritance of the basal cell nevus syndrome is one large kindred excluded this area of chromosome 1q as the site of the gene whose abnormality causes this hereditary disease. These data suggest that large deletions may accompany the development of cutaneous, low grade tumors just as they accompany the development of visceral, high grade cancers.

Adult↗
PubMed1992

Regional assignment of the human keratin 5 (KRT5) gene to chromosome 12q near D12S14 by PCR analysis of somatic cell hybrids and multicolor in situ hybridization.

Keratin 5 is the major type II keratin of the basal cells of epidermis and of other stratified epithelia. With its type I partner, keratin 14, it constitutes a major fraction of the cytoskeleton of the basal cells. Because the inheritance of epidermolysis bullosa simplex, a disease of epidermal basal cell fragility, was mapped in one family to chromosome 12q close to D12S14, we undertook to localize the gene for keratin 5. Polymerase chain reaction analysis of somatic cell hybrids mapped the keratin 5 gene to chromosome 12, and multicolor fluorescence in situ hybridization localized it to 12q very near D12S14. This sublocalization exemplifies the utility of in situ physical localization in assessing the candidacy of genes thought to underlie inherited disorders.

Animals↗
PubMed1992

Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12.

Bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis) is a severe, generalized, lifelong disease of the skin. As in epidermolysis bullosa simplex, intraepidermal blisters and clumping of keratin intermediate filaments are characteristic. We report here linkage of the inheritance of this disease to the region of chromosome 12q containing the genes encoding type II keratins. This suggests that keratin gene mutations may underlie this complex hyperproliferative and hyperkeratotic phenotype.

Chromosome Mapping↗
PubMed1988

Drosophila nuclear lamin precursor Dm0 is translated from either of two developmentally regulated mRNA species apparently encoded by a single gene.

A cDNA clone encoding a portion of Drosophila nuclear lamins Dm1 and Dm2 has been identified by screening a lambda-gt11 cDNA expression library using Drosophila lamin-specific monoclonal antibodies. Two different developmentally regulated mRNA species were identified by Northern blot analysis using the initial cDNA as a probe, and full-length cDNA clones, apparently corresponding to each message, have been isolated. In vitro transcription of both full-length cDNA clones in a pT7 transcription vector followed by in vitro translation in wheat germ lysate suggests that both clones encode lamin Dm0, the polypeptide precursor of lamins Dm1 and Dm2. Nucleotide sequence analyses confirm the impression that both cDNA clones code for the identical polypeptide, which is highly homologous with human lamins A and C as well as with mammalian intermediate filament proteins. The two clones differ in their 3'-untranslated regions. In situ hybridization of lamin cDNA clones to Drosophila polytene chromosomes shows only a single locus of hybridization at or near position 25F on the left arm of chromosome 2. Southern blot analyses of genomic DNA are consistent with the notion that a single or only a few highly similar genes encoding Drosophila nuclear lamin Dm0 exist in the genome.

Amino Acid Sequence↗