Characterization of the sleepy sperm mutant in the fern Ceratopteris richardii: A new model for the study of axonemal function

2004 ◽  
Vol 82 (11) ◽  
pp. 1602-1617 ◽  
Author(s):  
Karen S Renzaglia ◽  
Kelly Davidson Wood ◽  
Gerald Rupp ◽  
Leslie G Hickok
Keyword(s):  
Single Gene ◽  
Phenotypic Expression ◽  
Cell Ultrastructure ◽  
Ceratopteris Richardii ◽  
Atypical Cell ◽  
Variable Expression ◽  
Transmission Electron ◽  
Wide Range ◽  
Motility Mutant ◽  
Cytoskeletal Elements

Structural and motility characteristics of the zzz1 "sleepy sperm" mutant of Ceratopteris richardii Brongn. are described using scanning electron, transmission electron, light, and fluorescence microscopy. Although the zzz1 phenotype segregates as the product of a single gene mutation, the expression of the mutation varies within a single haploid gametophyte. The majority of mutant sperm cells are slow to initiate motility and typically swim in a slow, spiraling pattern. However, motility phenotypes range from immotile to wild-type (normal). This variable phenotypic expression is associated with a wide range of defects in the microtubule systems, especially the flagellar axonemes and the spline, a structure that provides a structural backbone for the cell. Defects in the spline microtubule array are associated with atypical cell shape and organellar positioning. Axonemal aberrations include an absence of the central pair complex and clumped flagella. We hypothesize that the gene product encoded by the zzz1 locus is not required for the establishment of the cytoskeletal elements necessary for sperm motility but rather is needed for stability and (or) repair (recycling) of these structures. This interpretation is consistent with the variable expression of zzz1 sperm, which appears to be age dependent.Key words: axoneme, microtubule, motility mutant, sperm cell, ultrastructure.

Comparison of Deterministic and Linear Cosine Spatial Filtering of Transmission Electron Micrographs

1972 ◽  
Vol 30 ◽  
pp. 596-597
Author(s):  
David A. Ansley
Keyword(s):  
Spherical Aberration ◽  
Focal Length ◽  
Chromatic Aberration ◽  
Spatial Filter ◽  
Operating Conditions ◽  
Objective Lens ◽  
List Type ◽  
Spatial Filters ◽  
Transmission Electron ◽  
Wide Range

The coherence of the electron flux of a transmission electron microscope (TEM) limits the direct application of deconvolution techniques which have been used successfully on unmanned spacecraft programs. The theory assumes noncoherent illumination. Deconvolution of a TEM micrograph will, therefore, in general produce spurious detail rather than improved resolution.A primary goal of our research is to study the performance of several types of linear spatial filters as a function of specimen contrast, phase, and coherence. We have, therefore, developed a one-dimensional analysis and plotting program to simulate a wide 'range of operating conditions of the TEM, including adjustment of the:(1) Specimen amplitude, phase, and separation(2) Illumination wavelength, half-angle, and tilt(3) Objective lens focal length and aperture width(4) Spherical aberration, defocus, and chromatic aberration focus shift(5) Detector gamma, additive, and multiplicative noise constants(6) Type of spatial filter: linear cosine, linear sine, or deterministic

Luminescence from individual dislocations in II-VI and III-V semiconductors

1991 ◽  
Vol 49 ◽  
pp. 834-835
Author(s):  
J W Steeds
Keyword(s):  
Group Iv ◽  
Luminescence Properties ◽  
Carrier Recombination ◽  
Transmission Electron ◽  
Wide Range ◽  
Basic Physics ◽  
Semiconducting Compounds ◽  
Diamond Group ◽  
Non Destructive ◽  
Technological Significance

There is a wide range of experimental results related to dislocations in diamond, group IV, II-VI, III-V semiconducting compounds, but few of these come from isolated, well-characterized individual dislocations. We are here concerned with only those results obtained in a transmission electron microscope so that the dislocations responsible were individually imaged. The luminescence properties of the dislocations were studied by cathodoluminescence performed at low temperatures (~30K) achieved by liquid helium cooling. Both spectra and monochromatic cathodoluminescence images have been obtained, in some cases as a function of temperature.There are two aspects of this work. One is mainly of technological significance. By understanding the luminescence properties of dislocations in epitaxial structures, future non-destructive evaluation will be enhanced. The second aim is to arrive at a good detailed understanding of the basic physics associated with carrier recombination near dislocations as revealed by local luminescence properties.

Structural and electronic properties of defects in semiconductors

1995 ◽  
Vol 53 ◽  
pp. 4-5
Author(s):  
J.L. Batstone
Keyword(s):  
Semiconductor Device ◽  
Chemical Vapor ◽  
Misfit Strain ◽  
Organic Chemical ◽  
Extended Defects ◽  
Transmission Electron ◽  
Semiconductor Thin Films ◽  
Wide Range ◽  
Metal Organic ◽  
Film Substrate

The development of growth techniques such as metal organic chemical vapor deposition (MOCVD) and molecular beam epitaxy during the last fifteen years has resulted in the growth of high quality epitaxial semiconductor thin films for the semiconductor device industry. The III-V and II-VI semiconductors exhibit a wide range of fundamental band gap energies, enabling the fabrication of sophisticated optoelectronic devices such as lasers and electroluminescent displays. However, the radiative efficiency of such devices is strongly affected by the presence of optically and electrically active defects within the epitaxial layer; thus an understanding of factors influencing the defect densities is required.Extended defects such as dislocations, twins, stacking faults and grain boundaries can occur during epitaxial growth to relieve the misfit strain that builds up. Such defects can nucleate either at surfaces or thin film/substrate interfaces and the growth and nucleation events can be determined by in situ transmission electron microscopy (TEM).

scholarly journals Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome

2021 ◽  
Vol 23 (3) ◽  
Author(s):  
Ania M. Fiksinski ◽  
Maude Schneider ◽  
Janneke Zinkstok ◽  
Danielle Baribeau ◽  
Samuel J. R. A. Chawner ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Clinical Care ◽  
Psychiatric Morbidity ◽  
Phenotypic Expression ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Lessons Learned ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Variable Expression

AbstractPurpose of ReviewThe 22q11.2 deletion syndrome (22q11DS) is associated with a broad spectrum of neurodevelopmental phenotypes and is the strongest known single genetic risk factor for schizophrenia. Compared to other rare structural pathogenic genetic variants, 22q11DS is relatively common and one of the most extensively studied. This review provides a state-of-the-art overview of current insights regarding associated neurodevelopmental phenotypes and potential implications for 22q11DS and beyond.Recent FindingsWe will first discuss recent findings with respect to neurodevelopmental phenotypic expression associated with 22q11DS, including psychotic disorders, intellectual functioning, autism spectrum disorders, as well as their interactions. Second, we will address considerations that are important in interpreting these data and propose potential implications for both the clinical care for and the empirical study of individuals with 22q11DS. Third, we will highlight variable penetrance and pleiotropy with respect to neurodevelopmental phenotypes in 22q11DS. We will discuss how these phenomena are consistently observed in the context of virtually all rare pathogenic variants and that they pose substantial challenges from both a clinical and a research perspective.SummaryWe outline how 22q11DS could be viewed as a genetic model for studying neurodevelopmental phenotypes. In addition, we propose that 22q11DS research can help elucidate mechanisms underlying variable expression and pleiotropy of neurodevelopmental phenotypes, insights that are likely relevant for 22q11DS and beyond, including for individuals with other rare pathogenic genetic variants and for individuals with idiopathic neurodevelopmental conditions.

Effects of Atovaquone on the Ultrastructural Morphology of Pneumocystis Carinii

1997 ◽  
Vol 3 (S2) ◽  
pp. 81-82
Author(s):  
M.P. Goheen ◽  
M.S. Bartlett ◽  
M.M. Shaw ◽  
S.R. Meshnick ◽  
J.W. Smith
Keyword(s):  
Adverse Reactions ◽  
Pneumocystis Carinii ◽  
Spinner Flask ◽  
Short Term ◽  
Human Embryonic Lung ◽  
Transmission Electron ◽  
Significant Incidence ◽  
Wide Range ◽  
Acquired Immunodeficiency ◽  
Immunodeficiency Syndrome

Pneumocystis carinii pneumonia (PCP) occurs at some time in most patients with acquired immunodeficiency syndrome (AIDS). Trimethoprim/sulfamethoxazole or pentamidine isothionate are the traditional modes of therapy for treatment and prophylaxis of PCP. Unfortunately these drugs are associated with a significant incidence of adverse side effects particularly in patients with AIDS. Toxicity and a growing concern that P. carinii strains are becoming resistant to these compounds is providing the impetus for the search for additional drugs to combat P. carinii. Atovaquone, developed as an antimalarial agent, has activity against a wide range of other organisms, including Toxoplasma sp. and P. carinii, with a lower incidence of adverse reactions during clinical trials. Atovaquone inhibits mitochondrial respiration in P. falciparum and P. carinii. In this study transmission electron microscopy (TEM) was used to observe the effects of atovaquone on P. carinii organisms in short term spinner flask culture.Spinner flask cultures of human embryonic lung cells were inoculated with P. carinii from infected rat lung.

Interfaces in Structural Ceramics

MRS Bulletin ◽  
1990 ◽  
Vol 15 (10) ◽  
pp. 51-59 ◽  
Author(s):  
M. Grant Norton ◽  
C. Barry Carter
Keyword(s):  
Structural Ceramics ◽  
Interface Engineering ◽  
Micro Structure ◽  
Complete Understanding ◽  
Intimate Contact ◽  
Transmission Electron ◽  
Processed Material ◽  
Wide Range ◽  
Alternative Materials ◽  
The Relationship

Structural ceramics are necessarily polycrystalline and their usefulness is largely determined by the interfaces between the grains. The relationship between the structure and chemistry of different interfaces and the micro-structure can be illustrated by reviewing studies of interfaces in a wide range of materials including such classical ceramics as Al2O3, the current “hightech” polyphase ceramics exemplified by ZrO2-toughened Al2O3, and the composite materials of the future. Using transmission electron microscopy is essential for a complete understanding, but limitations to its use must be recognized. Only by understanding the factors that control the behavior of these interfaces will it become possible to further extend the application of interface engineering.Structural ceramics are a group of materials that can be used for applications requiring their strength to persist at high temperatures or in conditions that would be particularly corrosive to alternative materials, which are usually metallic. Strength and strength-related properties such as toughness depend largely on the microstructural features of the processed material.The microstructure is defined by the morphology and size of the grains and the interfaces between these grains. If the grains are in intimate contact, then the interface is a grain boundary of the type familiar from studies of metals.

Congenital adrenal hyperplasia: molecular mechanisms resulting in 21-hydroxylase deficiency

1986 ◽  
Vol 113 (4_Suppl) ◽  
pp. S315-S320 ◽  
Author(s):  
Patricia A. Donohoue ◽  
Cornelis Van Dop ◽  
Nicholas Jospe ◽  
Claude J. Migeon
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Molecular Mechanisms ◽  
Sequence Data ◽  
Phenotypic Expression ◽  
Restriction Pattern ◽  
Class Iii ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Wide Range ◽  
21 Hydroxylase Deficiency

Abstract 21-Hydroxylase deficiency resulting in congenital adrenal hyperplasia (CAH) is a HLA-linked autosomal recessive disorder that has a wide range of phenotypic expression. Two homologous 21-hydroxylase genes (21-OHA and 21-OHB) occur within the Class III region of the major histocompatibility complex, but only one (21-OHB) appears to function in adrenal steroidogenesis. Our restriction maps, and initial sequence data from White et al. (Pediatr Res 20:274A (1986)) for the two human 21-OH genes reveal a high degree of homology between these genes and a reading frame shift mutation in the 21-OHA gene respectively. Among fourteen control subjects, the intragenic restriction patterns of the 21-OHA and 21-OHB genes are invariant. The few restriction fragment length polymorphisms (RFLPs) found in some controls result from polymorphic restriction sites outside the 21-OH genes. In patients with CAH, several different mechanisms for mutation of the 21-OHB gene have been described: 1) deletion of the unique sequences of the 21-OHB gene, 2) conversion of the unique sequences of the 21-OHB gene to those of 21-OHA, and 3) mutations of 21-OHB which do not result in a detectable alteration of restriction pattern (e.g., point mutations). Duplication of the 21-OHA gene has been found in some patients with attenuated CAH; however, the significance of this finding remains unclear.

Epigenetics and Applied Anthropology

2021 ◽  
Author(s):  
Charles H. Klein
Keyword(s):  
Social Inequalities ◽  
Homo Sapiens ◽  
Single Gene ◽  
Molecular Genetic ◽  
Healthcare Providers ◽  
Basic Research ◽  
Sufficient Information ◽  
Theoretical Frameworks ◽  
Noncoding Dna ◽  
Wide Range

Since Francis Crick and James D. Watson’s discovery of DNA in 1953, researchers, policymakers, and the general public have sought to understand the ways in which genetics shapes human lives. A milestone in these efforts was the completion of the Human Genome Project’s (HGP) sequencing of Homo sapiens’ nearly three million base pairs in 2003. Yet, despite the excitement surrounding the HGP and the discovery of the structural genetic underpinnings of several debilitating diseases, the vast majority of human health outcomes have not been linked to a single gene. Moreover, even when genes have been associated with particular diseases (e.g., breast and colon cancer), it is not well understood why certain genetically predisposed individuals become ill and others do not. Nor has the HGP’s map provided sufficient information to understand the actual functioning of the human genetic code, including the role of noncoding DNA (“junk DNA”) in regulating molecular genetic processes. In response, a growing number of scientists have shifted their attention from structural genetics to epigenetics, the study of how genes express themselves in particular situations and environments. Anthropologists play roles in these applications of epigenetics to real-world settings. Their new theoretical frameworks unsettle the nature-versus-nurture binary and support biocultural anthropological research demonstrating how race becomes biology and embodies social inequalities and health disparities across generations. Ethnographically grounded case studies further highlight the diverse epigenetic logics held by healthcare providers, researchers, and patient communities and how these translations of scientific knowledge shape medical practice and basic research. The growing field of environmental epigenetics also offers a wide range of options for students and practitioners interested in applying the anthropological toolkit in epigenetics-related work.

scholarly journals Autophagy is activated in the ovarian tissue of polycystic ovary syndrome

Reproduction ◽  
2018 ◽  
Vol 155 (1) ◽  
pp. 85-92 ◽  
Author(s):  
Da Li ◽  
Yue You ◽  
Fang-Fang Bi ◽  
Tie-Ning Zhang ◽  
Jiao Jiao ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Potential Role ◽  
Polycystic Ovary ◽  
Ovarian Tissue ◽  
Ovary Syndrome ◽  
Cellular Processes ◽  
Transmission Electron ◽  
Wide Range ◽  
Response To Stress

The importance of autophagy in polycystic ovary syndrome (PCOS)-related metabolic disorders is increasingly being recognized, but few studies have investigated the role of autophagy in PCOS. Here, transmission electron microscopy demonstrated that autophagy was enhanced in the ovarian tissue from both humans and rats with PCOS. Consistent with this, ovarian granulosa cells from PCOS rats showed increases in the autophagy marker protein light chain 3B (LC3B), whereas levels of the autophagy substrate SQSTM1/p62 were decreased. In addition, the ratio of LC3-II/LC3-I was markedly elevated in human PCOS ovarian tissue compared with normal ovarian tissue. Real-time PCR arrays indicated that 7 and 34 autophagy-related genes were down- and up-regulated in human PCOS , Signal-Net, and regression analysis suggested that there are a wide range of interactions among these 41 genes, and a potential network based on EGFR, ERBB2, FOXO1, MAPK1, NFKB1, IGF1, TP53 and MAPK9 may be responsible for autophagy activation in PCOS. Systematic functional analysis of 41 differential autophagy-related genes indicated that these genes are highly involved in specific cellular processes such as response to stress and stimulus, and are linked to four significant pathways, including the insulin, ERBB, mTOR signaling pathways and protein processing in the endoplasmic reticulum. This study provides evidence for a potential role of autophagy disorders in PCOS in which autophagy may be an important molecular event in the pathogenesis of PCOS.

Cis-Diamminedichloroplatinum (II) Ototoxicity in the Guinea Pig

1981 ◽  
Vol 89 (4) ◽  
pp. 638-645 ◽  
Author(s):  
Scott A. Estrem ◽  
Richard W. Babin ◽  
Jai H. Ryu ◽  
Kenneth C. Moore
Keyword(s):  
Electron Microscopy ◽  
Hair Cells ◽  
Supporting Cell ◽  
Cell Ultrastructure ◽  
Outer Hair Cells ◽  
Detectable Change ◽  
Supporting Cells ◽  
Apical Portion ◽  
Ultrastructural Evidence ◽  
Transmission Electron

Cochleas from 12 guinea pigs were evaluated using light, scanning, and transmission electron microscopy after systemic administration of cis-diamminedichloroplatinum (cis-DDP). Administration of cis-DDP resulted in loss of the Preyer reflex and degeneration of outer hair cells (OHC) with increased dose. The OHC degeneration was most pronounced in the basal turns of the cochlea with greatest severity in the inner row. Ultrastructural evidence of OHC degeneration included dilatation of the parietal membranes, softening of the cuticular plate, increased vacuolization and increased numbers of lysosome-like bodies in the apical portion of the cell. Supporting cells appeared more sensitive than OHC. Alteration of supporting cell ultrastructure preceded detectable change in OHC. Injury to the supporting cells was noted with intracellular vesiculation and increased autophagocytosis.

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