scholarly journals A Genetic Analysis of pannier, a Gene Necessary for Viability of Dorsal Tissues and Bristle Positioning in Drosophila

Genetics ◽  
1996 ◽  
Vol 143 (3) ◽  
pp. 1271-1286 ◽  
Author(s):  
Pascal Heitzler ◽  
Marc Haenlin ◽  
Philippe Ramain ◽  
Manuel Calleja ◽  
Pat Simpson
Keyword(s):  
Genetic Analysis ◽  
Imaginal Discs ◽  
Phenotypic Analysis ◽  
Dorsal Midline ◽  
Opposing Effects ◽  
Bristle Patterns

Abstract A genetic and phenotypic analysis of the gene pannier is described. Animals mutant for strong alleles die as embryos in which the cells of the amnioserosa are prematurely lost. This leads to a dorsal cuticular hole. The dorsal-most cells of the imagos are also affected: viable mutants exhibit a cleft along the dorsal midline. pannier mRNA accumulates specifically in the dorsal-most regions of the embryo and the imaginal discs. Viable mutants and mutant combinations also affect the thoracic and head bristle patterns in a complex fashion. Only those bristles within the area of expression of pannier are affected. A large number of alleles have been studied and reveal that pannier may have opposing effects on the expression of achaete and scute leading to a loss or a gain of bristles.

Genetic and Phenotypic Analysis of Families with Inherited Hypo- and Dys-Fibrinogenemia. Fibrinogen Bratislava.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 1794-1794
Author(s):  
Angelika Batorova ◽  
Daniela Horvathova ◽  
Martin Mistrik ◽  
Philippe de Moerloose ◽  
Marguerite Neerman-Arbez
Keyword(s):  
Genetic Analysis ◽  
Fibrinogen Level ◽  
Novel Mutation ◽  
Heterozygous Mutation ◽  
Blood Coagulation Disorders ◽  
Phenotypic Analysis ◽  
Spontaneous Bleeding ◽  
Exon 2 ◽  
Exon 1 ◽  
History Of

Abstract Inherited hypofibrinogenemia (hypo-FBG) and dysfibrinogenemia (dys-FBG) are rare blood coagulation disorders caused by quantitative or qualitative defects of fibrinogen. We reviewed the clinical course in 47 individuals with dys-FBG and 16 patients with hypo-FBG with median fibrinogen coagulant/antigen levels of 0.76/2.8 and 1.1/1.2 g/L, respectively. Genetic analysis was performed in 5 families (16 individuals) with dys-FBG and 4 families (8 individuals) with hypo-FBG. In the dysfibrinogenemia group 21 (45%) individuals were asymptomatic, 24(51%) patients suffered from bleeding and/or prolonged wound healing (only four had serious bleeding) and 2(4%) patients had a history of thrombosis. A total of 96 surgeries were performed without preoperative fibrinogen replacement in 31 dys-FBG patients, only 9 (9%) procedures were complicated with bleeding, two requiring fibrinogen substitution. Genetic analysis in dysfibrinogenemia has revealed heterozygous mutation in FGA exon 2 (Aα Arg16 His) known to cause delayed fibrinopeptide A cleavage by thrombin in 6 individuals (3 families). Five patients from two other families were heterozygous for a novel mutation in FGA exon 2 (Aα Gly13Glu). Fibrinogen coag/Ag median levels were comparable for both mutant genotypes: 0.5/2.9 g/L and 0.56/2.8 g/L, respectively. In the hypofibrinogenemia group 6/14 (43%) patients had mild spontaneous bleeding, 8/36 (22%) surgeries performed in 12 patients w/o replacement were complicated with bleeding. A novel mutation in FGG exon 1 (Trp3 Stop) was identified in heterozygosity for 3 patients (3 families) with FBG coag/Ag median level of 1.1/1.2 g/L. An additional unrelated patient with a fibrinogen level of 0.7 g/L and serious postpartum bleeding was heterozygous for a novel mutation in FGG exon 7 (Trp253Cys) - Fibrinogen Bratislava.

scholarly journals Erratum to “Towards a Systems Approach in the Genetic Analysis of Archaea: Accelerating Mutant Construction and Phenotypic Analysis inHaloferax volcanii”

Archaea ◽  
2011 ◽  
Vol 2011 ◽  
pp. 1-1
Author(s):  
Ian K. Blaby ◽  
Gabriela Phillips ◽  
Crysten E. Blaby-Haas ◽  
Kevin S. Gulig ◽  
Basma El Yacoubi ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Systems Approach ◽  
Phenotypic Analysis

scholarly journals Diagnosing von Willebrand disease: genetic analysis

Hematology ◽  
2016 ◽  
Vol 2016 (1) ◽  
pp. 678-682 ◽  
Author(s):  
Anne Goodeve
Keyword(s):  
Next Generation Sequencing ◽  
Genetic Analysis ◽  
Disease Type ◽  
Von Willebrand Disease ◽  
Next Generation Sequencing Data ◽  
Next Generation ◽  
Sequencing Data ◽  
Phenotypic Analysis ◽  
Von Willebrand ◽  
Generation Sequencing

Abstract Investigation of a patient with possible von Willebrand disease (VWD) includes a range of phenotypic analyses. Often, this is sufficient to discern disease type, and this will suggest relevant treatment. However, for some patients, phenotypic analysis does not sufficiently explain the patient’s disorder, and for this group, genetic analysis can aid diagnosis of disease type. Polymerase chain reaction and Sanger sequencing have been mainstays of genetic analysis for several years. More recently, next-generation sequencing has become available, with the advantage that several genes can be simultaneously analyzed where necessary, eg, for discrimination of possible type 2N VWD or mild hemophilia A. Additionally, several techniques can now identify deletions/duplications of an exon or more that result in VWD including multiplex ligation-dependent probe amplification and microarray analysis. Algorithms based on next-generation sequencing data can also identify missing or duplicated regions. These newer techniques enable causative von Willebrand factor defects to be identified in more patients than previously, aiding in a specific VWD diagnosis. Genetic analysis can also be helpful in the discrimination between type 2B and platelet-type VWD and in prenatal diagnosis for families with type 3.

scholarly journals Genetic analysis of suppressors of the veA1 mutation in Aspergillus nidulans.

Genetics ◽  
1990 ◽  
Vol 126 (4) ◽  
pp. 869-874 ◽  
Author(s):  
J L Mooney ◽  
D E Hassett ◽  
L N Yager
Keyword(s):  
Genetic Analysis ◽  
Aspergillus Nidulans ◽  
Double Mutant ◽  
Suppressor Gene ◽  
Specific Interactions ◽  
Gene Products ◽  
Phenotypic Analysis ◽  
Filamentous Ascomycete ◽  
Allelic State ◽  
Extragenic Suppressors

Abstract Light-dependent conidiation in the filamentous ascomycete, Aspergillus nidulans, is contingent on the allelic state of the velvet (veA) gene. Light dependence is abolished by a mutation in this gene (veA1), which allows conidiation to occur in the absence of light. We have isolated and characterized six extragenic suppressors of veA1 that restore the light-dependent conidiation phenotype. Alleles of four genes, defined by complementation tests, were subjected to extensive genetic and phenotypic analysis. The results of light-dark shifting experiments and the phenotypes of double mutant combinations are consistent with the possibility that the expression of the light-dependent phenotype is regulated by specific interactions of the suppressor gene products with the velvet gene product and with each other.

scholarly journals Genetic Analysis of the Bone Morphogenetic Protein-Related Gene, gbb, Identifies Multiple Requirements During Drosophila Development

Genetics ◽  
1999 ◽  
Vol 152 (2) ◽  
pp. 629-640 ◽  
Author(s):  
Kristi A Wharton ◽  
James M Cook ◽  
Sonia Torres-Schumann ◽  
Katherine de Castro ◽  
Emily Borod ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Bone Morphogenetic Protein ◽  
Fat Body ◽  
Sequence Similarity ◽  
Imaginal Discs ◽  
Homeotic Gene ◽  
Related Gene ◽  
Larval Cuticle ◽  
Visceral Mesoderm ◽  
Morphogenetic Protein

Abstract We have isolated mutations in the Drosophila melanogaster gene glass bottom boat (gbb), which encodes a TGF-β signaling molecule (formerly referred to as 60A) with highest sequence similarity to members of the bone morphogenetic protein (BMP) subgroup including vertebrate BMPs 5-8. Genetic analysis of both null and hypomorphic gbb alleles indicates that the gene is required in many developmental processes, including embryonic midgut morphogenesis, patterning of the larval cuticle, fat body morphology, and development and patterning of the imaginal discs. In the embryonic midgut, we show that gbb is required for the formation of the anterior constriction and for maintenance of the homeotic gene Antennapedia in the visceral mesoderm. In addition, we show a requirement for gbb in the anterior and posterior cells of the underlying endoderm and in the formation and extension of the gastric caecae. gbb is required in all the imaginal discs for proper disc growth and for specification of veins in the wing and of macrochaete in the notum. Significantly, some of these tissues have been shown to also require the Drosophila BMP2/4 homolog decapentaplegic (dpp), while others do not. These results indicate that signaling by both gbb and dpp may contribute to the development of some tissues, while in others, gbb may signal independently of dpp.

The Drosophila JNK pathway controls the morphogenesis of imaginal discs during metamorphosis

Development ◽  
1999 ◽  
Vol 126 (23) ◽  
pp. 5453-5462 ◽  
Author(s):  
F. Agnes ◽  
M. Suzanne ◽  
S. Noselli
Keyword(s):  
Morphological Changes ◽  
Imaginal Discs ◽  
Small Gtpase ◽  
Dependent Manner ◽  
Jnk Pathway ◽  
Dorsal Midline ◽  
Negative Role ◽  
Adult Head ◽  
Wing Discs

In Drosophila, the Jun-N-terminal Kinase-(JNK) signaling pathway is required for epithelial cell shape changes during dorsal closure of the embryo. In the absence of JNK pathway activity, as in the DJNKK/hemipterous (hep) mutant, the dorsolateral ectodermal cells fail both to elongate and move toward the dorsal midline, leading to dorsally open embryos. We show here that hep and the JNK pathway are required later in development, for correct morphogenesis of other epithelia, the imaginal discs. During metamorphosis, the imaginal discs undergo profound morphological changes, giving rise to the adult head and thoracic structures, including the cuticle and appendages. hep mutant pupae and pharate adults show severe defects in discs morphogenesis, especially in the fusion of the two lateral wing discs. We show that these defects are accompanied by a loss of expression of puckered (puc), a JNK phosphatase-encoding gene, in a subset of peripodial cells that ultimately delineates the margins of fusing discs. In further support of a role of puc in discs morphogenesis, pupal and adult hep phenotypes are suppressed by reducing puc function, indicative of a negative role of puc in disc morphogenesis. Furthermore, we show that the small GTPase Dcdc42, but not Drac1, is an activator of puc expression in a hep-dependent manner in imaginal discs. Altogether, these results demonstrate a new role for the JNK pathway in epithelial morphogenesis, and provide genetic evidence for a role of the peripodial membrane in disc morphogenesis. We discuss a general model whereby the JNK pathway regulates morphogenesis of epithelia with differentiated edges.

Scanning electron microscopy of the integument of schistosoma rodhaini

1986 ◽  
Vol 44 ◽  
pp. 132-133
Author(s):  
P. Evers ◽  
C. Schutte ◽  
C. D. Dettman
Keyword(s):  
Electron Microscopy ◽  
Scanning Electron Microscopy ◽  
Oral Sucker ◽  
Adult Male ◽  
Dorsal Surface ◽  
Ventral Surface ◽  
Sensory Receptors ◽  
East African ◽  
Dorsal Midline ◽  
Scanning Electron

S.rodhaini (Brumpt 1931) is a parasite of East African rodents which may possibly hybridize with the human schistosome S. mansoni. The adult male at maturity measures approximately 3mm long and possesses both oral and ventral suckers and a marked gynaecophoric canal. The oral sucker is surrounded by a ring of sensory receptors with a large number of inwardly-pointing spines set into deep sockets occupying the bulk of the ventral surface of the sucker. Numbers of scattered sensory receptors are found on both dorsal and ventral surfaces of the head (Fig. 1) together with two conspicuous rows of receptors situated symmetrically on each side of the midline. One row extends along the dorsal surface of the head midway between the dorsal midline and the lateral margin.

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