Molecular basis and PCR-DNA typing of the Fya/fyb blood group polymorphism

Spondyloepiphyseal dysplasia tarda (SEDL) is an X-linked recessive disorder characterized in affected males by short stature resulting from a growth defect of the vertebral bodies. We have extended our earlier studies by analyzing 15 families with newly identified microsatellite DNA markers; analysis of recombination events with these markers indicates that the gene responsible for SEDL is located in Xp22 between DXS 16 and DXS 987 on an interval spanning approximately 2 Mb.     

Localization of the CDKN4/p27Kip1 gene to human chromosome 12p12.3

CDKN4/p27Kip1 is a cyclin-dependent kinase (Cdk) inhibitor implicated in G1 phase arrest, which negatively regulates G1 phase progression in response to TGF, and might represent a tumor suppressor gene. We report here the chromosomal assignment of the human CDKN4 gene to chromosome 12p12.3 in close proximity to highly polymorphic microsatellite markers.     

Decline in photopositive tendencies with age inDrosophila melanogaster (Diptera: Drosophilidae)

Phototaxis was measured in young, middle-aged, and oldDrosophila melanogaster flies of both sexes. The apparatus allowed us to measure the tendency to go toward light, independently of the time needed to do so; under such conditions, phototaxis is dissociated from locomotor activity. The percentage of photopositive flies decreased slightly with age (93.96, 80.17, and 78.97%, respectively, in young, middle-aged, and old flies). Results are discussed in connection with previous data for which the tendency to go toward light and the time to do so were not dissociated.     

Roles for mannose-6-phosphate receptors in lysosomal enzyme sorting, IGF-II binding and clathrin-coat assembly

Two related transmembrane proteins in mammalian cells bind the mannose 6-phosphate recognition marker present on all soluble lysosomal hydrolases. Recent studies of cells that express only one or neither of these proteins have shed light not only on their function in directing lysosomal enzymes into the endocytic pathway but also on their critical role in transport vesicle formation in the trans Golgi network. One of these proteins also binds insulin-like growth factor II (IGF-II) and may be an important part of the IGF-dependent system that regulates development.     

Entrapment of l-tryptophan producing Escherichia coli in different matrices: activity of immobilized cells

Cells of Escherichia coli induced for l-tryptophan synthase [l-serine hydro-lyase (adding indole-glycerol-phosphate), EC 4.2.1.20] have been assayed in DMF and DMSO aqueous solvents as reaction medium. Up to 20% DMF/water, cells retained 90% of their tryptophan synthase activity. Concentrations of 20 mM indole, which did not inhibit this reactivity, could be reached with 5% DMF/water. Four matrices were compared for cell immobilization: polyacrylamide, foam particles of bovine seum albumin, alginate and κ-carrageenan. The best activity was retained with the latter matrix, and the preparations thus obtained allowed high productivity of l-tryptophan. Various systems of production of l-tryptophan with κ-carrageenan and DMF/water were studied.     

Synthesis of [17,18-3H] trans-13-azaprostanoic acid. A labeled probe for the PGH2/TXA2 receptor

Because of its highly unstable nature, TXA2, produced by platelet metabolism of arachidonic acid, does not lend itself to use as a receptor probe for its own receptor. As such, the stable TXA2/PGH2 antagonist, trans-13-azaprostanoic acid (trans-13-APA, 12b), was prepared as the [17, 18 3H] derivative [( 3H] trans-13-APA, 12c) to study this receptor and to better evaluate the mechanism of action of these azaprostanoids. Tritiated trans-13-APA, 12c, was prepared in nearly theoretical specific activity (57 Ci/mmole) from (17Z)-trans-13-azaprost-17-enoic acid (11b) by catalytic tritiation. The unsaturated 11b was prepared by condensation of cis-7-amino-3-heptene (8) with 2-(6-carboxyhexyl) cyclopentanone (9), NaBH4 reduction, chromatography, and hydrolysis of the trans isomer so isolated. The olefins 11a and b were also of biochemical interest because of the unsaturation in the lower side chain. The presence of similar unsaturation in PGH3(4) and TXA3 (3) renders these prostaglandins inactive as proaggregatory agents. Evaluation of the antiaggregatory activity of 11a and b indicated it to be about the same potency in inhibiting human platelet aggregation as the parent cis and trans-13-APAs, suggesting that introduction of a double bond at the 17 position in platelet prostaglandin antagonists is unlikely to result in enhanced antiplatelet activity.     

Congenital defects of the upper lateral incisors (ULI): Condition and measurements of the other teeth,measurements of the superior arch,head and face

We surveyed a French male population for the incidence of missing or reduced upper lateral incisors (ULI). In 5,738 subjects, we observed an incidence of 1.59% with one or two reduced ULI (the other normal) and 1.90% with one or two missing ULI (the other normal or reduced), altogether, 3.49% affected subjects. Furthermore, 250 random controls were observed. Agenesis of other teeth is more frequent in propositi. Missing third molars were 12.4% in controls, 24.0% in propositi with reduced ULI and 39.6% in propositi with two missing ULI. Furthermore, agenesis of incisors, canines and premolars ranges from 0.4% in controls to 1.3% in propositi having reduced ULI and 5.0% in propositi with two missing ULI. So, propositi with reduced ULI are intermediate between the controls and the propositi with missing ULI with respect to the frequency of agenesis of other teeth. On the other hand, a different ranking is observed with respect to the teeth measurements: reduction of tooth size is more marked in propositi with reduced ULI than in propositi with missing ULI. The reduction mainly affects canines, incisors and to a lesser degree, premolars. Arch length and interpremolar diameters are smaller in propositi with missing ULI, compared with controls.