Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second,unrelated family

Retinitis pigmentosa is a genetically heterogeneous form of retinal degeneration, which has X-linked, autosomal recessive and autosomal dominant forms. The disease genes in families with autosomal dominant retinitis pigmentosa (adRP) have been linked to six loci, on 3q, 6p, 7p, 7q, 8q and 19q. In a large American family with late-onset adRP, microsatellite markers were used to test for linkage to the loci on 3q, 6p, 7p, 7q and 8q. Linkage was found to 7q using the marker D7S480. Additional microsatellite markers from 7q were then tested. In total, five markers, D7S480, D7S514, D7S633, D7S650 and D7S677, show statistically significant evidence for link-age in this family, with a maximum two-point lod score of 5.3 at 0% recombination from D7S514. These results confirm an earlier report of linkage to an adRP locus (RP10) in an unrelated family of Spanish origin and indicate that RP10 may be a significant gene for inherited retinal degeneration. In addition, we used recently reported microsatellite markers from 7q to refine the linkage map of the RP10 locus.     

Chromosomal localization of three mouse diacylglycerol kinase (DAGK) genes: genes sharing sequence homology to the Drosophila retinal degeneration A (rdgA) gene

There is growing evidence to support some form of light-activated phosphoinositide signal transduction pathway in the mammalian retina. Although this pathway plays no obvious role in mammalian phototransduction, mutations in this pathway cause retinal degenerations in Drosophila. These include the retinal degeneration A mutant, which is caused by an alteration in an eye-specific diacylglycerol kinase (DAGK) gene. In our efforts to consider genes mutated in Drosophila as candidates for mammalian eye disease, we have initially determined the map position of three DAGK genes in the mouse.     

Inactivation of the (+) gamete agglutinin during the mating-type reaction in chlamydomonas

Sex cell contact in Chlamydomonas is due to complementary sex-specific glycoproteins (mating-type substances, MTSs). Their interaction causes an instantaneous but labile flagella agglutination between sexually different gametes. The dynamic nature of this contact permits partner exchange between agglutinated gametes and accounts for the transitoriness of the contact, flagella adhesion being terminated upon ensuing pairing. This paper describes molecular events that underlie the adhesion potential of differentiated (+) gametes. In the contact-establishing interaction with its receptors on the (?) flagella, the agglutinin of differentiated (+) gametes is inactivated. Compensating for this inactivation, the adhesion potential of gametes in agglutination is sustained by continuous replenishment of the inactivated MTS by newly synthesized units. If this glycoprotein neosynthesis is blocked by tunicamycin (TUM), the adhesiveness of differentiated (+) gametes ceases. It is postulated that this complex interaction with incapacitation and neosynthesis forms the basis of the dynamic nature of the flagella contact and eventually accounts for its termination at pairing.     

Preliminary results from a controlled evaluation of thermal biofeedback as a treatment for essential hypertension

In a controlled trial, thermal biofeedback (n=20) and abbreviated progressive relaxation (n=22) were compared in the treatment of mild to moderate hypertensive patients whose blood pressures (BP) were initially controlled on two medications. For the clinical end point of maintaining control of BP on a single drug after treatment, biofeedback was superior to relaxation training (at 3 months, 47% success for biofeedback versus 23% for relaxation). This same result tended to be true for patient-measured home BPs. BPs from laboratory psychophysiological testing showed no consistent advantage for one treatment over the other.This research was supported by a grant from NHLB1, HL-27622.     

A comparison of maternal behaviour in the meadow vole (Microtus pennsylvanicus), prairie vole (M. ochrogaster) and pine vole (M. pinetorum)

The maternal behaviour of three species of voles was compared using a semi-naturalistic laboratory system. Meadow vole females spent more time out of the nest, and exhibited less maternal behaviour in terms of nursing and brooding, and more non-social behaviour such as locomoting, eating, and drinking, than the females of the other two species. Across all species, maternal behaviour decreased from parturition onward, while non-social behaviour increased. Paternal care was well developed in the prairie vole and pine vole, but was never observed in the meadow vole. During the first postnatal week, male prairie voles showed a tendency to enter the nest when the female left the young unattended. This trend was not apparent in the male pine vole. The physical parameters of pup development, including eye opening and the development of fur, were similar in all three species. Behavioural development, however, was most rapid in the meadow vole, intermediate in the prairie vole, and slowest in the pine vole. These results are compared with those of previous field and laboratory studies, and are discussed with reference to the life-history strategy of each species.     

Ultrastructural and histochemical studies on guard cells

Serial thick sections of guard cells from Vicia faba L., Nicotiana tabacum L., Allium cepa L., Zea mays L. and Beta vulgaris L. were obtained systematically (600–800 nm) and viewed with the transmission electron microscope in an effort to demonstrate the presence or absence of a symplastic transport pathway within the stomatal complex. Eight to ten stomata from each species were examined, and no continuous plasmodesmata were found connecting guard cells to sister guard cells or to adjacent epidermal or subsidiary cells. Continuous plasmodesmata were observed in immature guard cells, but were sealed (truncated) during the development of the mature cell wall. Histochemical stains, phosphotungstic acid and silver methenamine, were used to demonstrate differentiation within the mature guard-cell wall. The structural differentiation of the stomatal apoplastic region is discussed in relation to fanctional specialization. Plasma-membrane elaborations or plasmalemmasomes were identified in the guard cells of Zea, and it is suggested that these structures may function in ion transport.Abbreviations PTA-HCl phosphotungstic acid and hydrochloric acid - SM silver methenamine - UA-LC uranyl acetate and lead citrate     

Cell interactions during the fusionin vitro ofDrosophila eye-antennal imaginal discs

Summary The fusion of the eye-antennal discs during culturein vitro has been investigated, and the complex morphogenetic movements which occur during the formation of the head capsule of the insect are described. The initial contact between the eye anlagen is by means of cell processes spanning the gap between the two discs. Subsequently the two epithelia become firmly apposed, and then the integrity of the epithelium in the region of fusion breaks down, cells appearing to move to new positions in order to form an epithelium which unites the two discs. The epithelium eventually secretes a pattern of cuticular structures which is continuous between the derivatives of the two discs. Bristles on either side of the line of fusion are perfectly aligned, and structures such as the median ocellus, which are formed jointly by the cells of the two discs, differentiate normally. This is also found when left and right eye-antennal discs of different genotypes are placed side-by-side, indicating that processes of pattern regulation can occur in culture.     

The development and vertical distribution of populations of gas-vacuolate bacteria in a eutrophic,monomictic lake

The role of gas vacuoles in the vertical stratification of planktonic bacteria is analysed. Measurements made with certain gas-vacuolate bacteria in laboratory culture suggest that only colonial forms could sink or float fast enough to form population maxima in lakes by vertical migration from other depths. It is suggested that in the case of individual cells the importance of the buoyancy provided by gas vacuoles is to minimise sinking rates and thereby to increase residence times of the organisms at depths where conditions support their growth.Changes in the vertical distribution of a number of gas-vacuolate bacteria were followed throughout the year in a monomictic, eutrophic lake (Crose Mere, Shropshire). All were restricted to the anaerobic hypolimnion which developed in summer. The various species formed maxima at different depths and times. With some of them (e.g. species of Thiopedia, Pelonema and Brachyarcus) growth was necessary to explain their development. In others (e. g. species of Pelodictyon and two colourless bacteria) vertical migrations might also have contributed to their development.     

Caprine Arthritis-Encephalitis Virus Is Distinct from Visna and Progressive Pneumonia Viruses as Measured by Genome Sequence Homology

Competitive inhibition of hybridization between ¹²⁵I-labeled caprine arthritis-encephalitis viral RNA and homologous cDNA by heterologous viral RNA shows that the caprine retrovirus shares <20% genome sequence homology with visna and progressive pneumonia viruses. These viruses, however, are indistinguishable in immunodiffusion reactions involving the major structural protein (p28).     

6,9-deepoxy-6,9,-(phenylimino)-delta 6,8-prostaglandin I1, (U-60,257), a new inhibitor of leukotriene C and D synthesis: in vitro studies

Addition of the calcium inophore, A 23187, and cysteine to isolated mononuclear cells from rat peritoneal washings causes a marked increase in the formation of thromboxane B2 (TxB2) along with the formation of leukotrienes C and D (LT's). The formation of LT's in this system was inhibited by 6,9-deepoxy-6,9-(phenylimino)-delta 6,8-prostaglandin I1, U-60,257, or its methyl ester, U-56,467, (ID50 4.6 and 0.31 microM, respectively). There was no inhibition of TxB2 formation. By contrast, two structurally-related compounds, PGI2 and its stable analog, 6-beta-PGI1, did not affect the formation of either LT's or TxB2. The inhibition of LT formation by U-60,257 was rapidly reversed after removal of this compound from the cells. U-60,257 did not inhibit the cyclooxygenase of human polymorphonuclear leukocytes. Nor did it inhibit formation of 12-L-hydroxy-5,8,10,14-eicosatetraenoic acid (12-HETE) in human platelets. On the other hand, U-60,257 inhibited glutathione S-transferase activity of rat basophil leukemia cells (ID50, 37 microM), suggesting that this compound may inhibit the last step in LTC biosynthesis. In addition to inhibiting LT synthesis, U-60,257 also appears to be a competitive inhibitor of the action of LT on the guinea pig ileum, although this inhibition requires a higher drug concentration than those ordinarily encountered during assay for LT's in U-60,257-treated incubations.