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Biomedical subjects

E Allen

Publications and source records attributed to E Allen.

At least 91 records · Page 5Linked to original sources

The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution.

The mammalian X and Y chromosomes are thought to have evolved from a common, nearly homologous chromosome pair. Although there is little sequence similarity between the mouse or the human X and Y, there are several regions in which moderate to extensive sequence homologies have been found, including, but not limited to, the so-called pseudoautosomal segment, in which X-Y pairing and recombination take place. The steroid sulfatase gene is in the pseudoautosomal region of the mouse, but not in man. We have cloned and characterized the human STS X-encoded locus and a pseudogene that is present on the long arm of the Y chromosome. Our data in humans and other primates suggest that there has been a pericentric inversion of the Y chromosome during primate evolution that has disrupted the former pseudoautosomal arrangement of these genes. These results provide additional insight into the evolution of the sex chromosomes and into the nature of this interesting portion of the human genome.

Animals↗

Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange.

Human STS is a microsomal enzyme important in steroid metabolism. The gene encoding STS is pseudoautosomal in the mouse but not in humans, and escapes X inactivation in both species. We have prepared monoclonal and polyclonal antibodies to the protein which has been purified and from which partial amino acid sequence data have been obtained. cDNA clones containing the entire coding sequence were isolated, sequenced, and expressed in heterologous cells. Variable length transcripts have been shown to be present and due to usage of alternative poly(A) addition sites. The functional gene maps to Xp22.3-Xpter and there is a pseudogene on Yq suggesting a recent pericentric inversion. Absence of STS enzymatic activity occurs frequently in human populations and produces a visible phenotype of scaly skin or ichthyosis. Ten patients with inherited STS deficiency were studied and eight had complete gene deletions. The possibility that STS deficiency results from aberrant X-Y interchange is discussed.

Amino Acid Sequence↗

Monoclonal antibodies against the 1,4-dihydropyridine receptor associated with voltage-sensitive Ca2+ channels detect similar polypeptides from a variety of tissues and species.

Four monoclonal antibodies have been raised against voltage-sensitive Ca2+ channel dihydropyridine receptors from rabbit skeletal muscle. When tested by immunoblot assay of denatured transverse tubule membranes in reducing polyacrylamide gels, each recognised a single polypeptide of Mr approximately 140,000 that co-migrated with the large glycoprotein subunit of the purified receptor. In blots of nonreducing gels, a larger protein of Mr approximately 170,000 was seen and three of the antibodies recognised additional components at Mr approximately 310,000 and approximately 330,000. Crossreactive material of similar molecular mass was also seen in rabbit heart and brain, and in the skeletal muscle of other species.

Animals↗

Very short patch mismatch repair in phage lambda: repair sites and length of repair tracts.

Five amber mutations in the repressor (cI) gene of bacteriophage lambda recombine anomalously with nearby cI mutations. When any of these markers is used in four-factor crosses, cI+ recombinants that are expected to require three cross-overs occur at high frequencies. These recombinants are attributable to very-short-patch (VSP) repair of specific mismatches in DNA heteroduplexes formed during recombination between the markers flanking cI. The sites of the repair-prone mutations and the lengths of repair tracts have now been determined. Amber mutations subject to VSP repair are C to T transitions in 5'CCATGG, the sequence methylated by the product of gene dcm, and also in the related 5'CAGG or 5'CCAG sequences. Ambers arising in CAG sequences found in other contexts, or in codons other than CAG, were not subject to VSP repair. Repair tracts rarely, if ever, exceed ten nucleotides in length, and can be as short as two nucleotides. A repair-prone mutation does not stimulate recombination between flanking cI markers.

Bacteriophage lambda↗

Chemical and histochemical studies of normal and diseased human gastrointestinal tract. V. A differential diagnostic method for the histochemical classification of glycoproteins.

A differential diagnostic scheme is described for the division of colonic epithelial glycoproteins into eleven histochemically distinct classes. The scheme depends upon the use of seven histochemical techniques which, collectively, permit the differential staining of O-sulphate ester, sialic acid and its side chain O-acyl variants and vicinal diols located on carbohydrate residues other than sialic acids. Elements of the scheme also provide a general approach to the classification of epithelial glycoproteins in anatomic sites other than the colon. Application of the scheme permitted the classification of the epithelial glycoproteins in the mucosa 0.5-5.0 cm from human colonic tumours and provided direct confirmation of previous observations that changes from normal in the relative proportions of either side chain O-acylated sialic acids or sialic acids and O-sulphate esters can occur independently of one another.

Colonic Neoplasms↗

Results of dipstick tests, visual inspection, microscopic examination of urine sediment, and microbiological cultures of urine compared for simplifying urinalysis.

Using microscopic sediment examination, reagent dipsticks, visual appearance, and microbiological culture, we studied 196 urine specimens collected under sterile conditions. We conclude that the sensitivities and specificities noted in the comparison of dipstick urinalysis with urine microscopy justify eliminating many microscopic examinations if a procedural flowchart is used. All 33 (16.8%) of the uncontaminated urine specimens showing substantial potential pathogen content on culture had either a turbid appearance or positive results for one or more dipstick tests. A positive dipstick test result for nitrite most consistently indicated that the urine should be cultured.

Bacteriuria↗

Bleeding and cupping.

Bleeding and cupping have been used in medicine since ancient times in the treatment of fevers and local inflammatory disorders. Local bleeding, by 'wet cupping', was effected by a scarificator or by leeches. John Hunter recommended venesection in moderation but preferred leeches for local bleeding. Bleeding as an accepted therapeutic practice went out of vogue in the middle of the nineteenth century as a result of the introduction of modern scientific methods. Dry cupping and the use of leeches, as counter irritants, persisted until the middle of this century.

Bloodletting↗

Long-term patency of vein grafts preserved in liquid nitrogen in dimethyl sulfoxide.

Autogenous canine jugular veins were stored in 15% dimethyl sulfoxide (DMSO) in liquid nitrogen vapor for one to 28 days and then implanted in the carotid artery as autografts. The patency rate at one year was 62.5-87.5%. The patency rate of fresh jugular vein autografts placed in the carotid artery for one year was 75%. Similar autografts stored in liquid nitrogen vapor for one to 28 days without the cryopreservative DMSO exhibited a zero to 12.5% patency rate at one year. Scanning electron microscope studies revealed preservation of theendothelium in DMSO protected veins and a damaged or sloughed endothelium in veins frozen without DMSO cryopreservation.

Animals↗