scholarly journals The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts

Blood ◽  
2003 ◽  
Vol 101 (6) ◽  
pp. 2081-2087 ◽  
Author(s):  
Lung-Chih Yu ◽  
Yuh-Ching Twu ◽  
Ming-Lun Chou ◽  
Marion E. Reid ◽  
Alan R. Gray ◽  
...  
Keyword(s):  
Molecular Genetics ◽  
Expression Patterns ◽  
Molecular Genetic ◽  
Congenital Cataracts ◽  
Coding Regions ◽  
Partial Association ◽  
Exon 1 ◽  
New Perspective ◽  
Epithelium Cells ◽  
Insight Into

The human i and I antigens are characterized as linear and branched repeats of N-acetyllactosamine, respectively. Conversion of the i to the I structure requires I-branching β-1,6-N-acetylglucosaminyltransferase activity. It has been noted that the null phenotype of I, the adult i phenotype, is associated with congenital cataracts in Asians. Previously, the identification of molecular changes in the IGnT gene, associated with the adult i phenotype, has been reported. In the present study, we demonstrate that the human I locus expresses 3 IGnT forms, designated IGnTA, IGnTB, and IGnTC, which have different exon 1, but identical exons 2 and 3, coding regions. The molecular genetics proposed for the I locus offer a new perspective on the formation and expression of the I antigen in different cells and provide insight into the questions derived from investigation of the adult i phenotype. Molecular genetic analyses of the Iloci of the 2 adult i groups, with and without congenital cataracts, were performed, and enzyme function assays and expression patterns for the 3 IGnT transcripts in reticulocytes and lens-epithelium cells were analyzed. The results suggest a molecular genetic mechanism that may explain the partial association of the adult i phenotype with congenital cataracts and indicate that a defect in theI locus may lead directly to the development of congenital cataracts. The results also suggest that the human blood groupI gene should be reassigned to the IGnTC form, not the IGnTB form, as described previously.

scholarly journals Miniaturization Technologies for Molecular Diagnostics

2001 ◽  
Vol 47 (3) ◽  
pp. 393-402 ◽  
Author(s):  
Ronald C McGlennen
Keyword(s):  
Genetic Testing ◽  
Molecular Genetics ◽  
Molecular Diagnostics ◽  
Clinical Laboratory ◽  
Molecular Genetic ◽  
End User ◽  
Analysis Instrument ◽  
Medical Discipline ◽  
Potential Impact ◽  
Insight Into

Abstract Background: Molecular diagnostics devices are becoming smaller. With the advancement of miniaturization technologies, microchip-based systems will soon be available for genetic testing. The purpose of this review is to highlight the underlying principles in miniaturization, the strategies being developed for bioanalysis, and the potential impact on the practice of this rapidly growing medical discipline. Approach: The author discusses DNA microchips and their practical importation into the clinical laboratory, based on his background in medical device and microchip design and development. His discussion is supported by a body of literature covering both biomedical and electrical engineering and more recent publications in the field of molecular genetics and pathology. Content: This review is descriptive and intended to outline the technologic and methodologic approaches to the creation of an integrated genetic analysis instrument based on miniature components. The review draws on published scientific evaluations of these devices without regard to the companies involved in their development. Summary: The intent of this review is that the reader will better understand the variety of technical approaches toward the miniaturization of molecular genetic testing for the clinical laboratory. With insight into the principles underlying the operation of these chips and the integrated systems, the end user can better evaluate the value to the field in terms of making molecular genetics testing simpler, faster, and less expensive.

scholarly journals Molecular genetic insights into deuterostome evolution from the direct-developing hemichordate Saccoglossus kowalevskii

2008 ◽  
Vol 363 (1496) ◽  
pp. 1569-1578 ◽  
Author(s):  
Christopher J Lowe
Keyword(s):  
Developmental Biology ◽  
Expression Patterns ◽  
Molecular Genetic ◽  
Genetic Regulation ◽  
The Body ◽  
Developmental Genetic ◽  
The Past ◽  
Deuterostome Evolution ◽  
Saccoglossus Kowalevskii ◽  
Insight Into

Progress in developmental biology, phylogenomics and palaeontology over the past five years are all making major contributions to a long-enduring problem in comparative biology: the early origins of the deuterostome phyla. Recent advances in the developmental biology of hemichordates have given a unique insight into developmental similarities between this phylum and chordates. Transcriptional and signalling gene expression patterns between the two groups during the early development of the anteroposterior and dorsoventral axes reveal close similarities, despite large morphological disparity between the body plans. These genetic networks have been proposed to play conserved roles in patterning centralized nervous systems in metazoans, yet seem to play a conserved role in patterning the diffusely organized basiepithelial nerve net of the hemichordates. Developmental genetic data are providing a unique insight into early deuterostome evolution, revealing a complexity of genetic regulation previously attributed only to vertebrates. While these data allow for key insights into the development of early deuterostomes, their utility for reconstructing ancestral morphologies is less certain, and morphological, palaeontological and molecular datasets should all be considered carefully when speculating about ancestral deuterostome features.

Music, Markets and Consumption

2013 ◽  
Author(s):  
Dr Daragh O’Reilly ◽  
Dr Gretchen Larsen ◽  
Dr Krzysztof Kubacki
Keyword(s):  
Cultural Studies ◽  
Popular Music ◽  
Music Business ◽  
Consumer Studies ◽  
Arts Marketing ◽  
New Perspective ◽  
Insight Into

A fully international and scholarly analysis integrating the unique popular music sector both within arts marketing and current marketing and consumption theories. Music, Markets and Consumption offers an up-to-date business-theoretical reading of the music business which complements viewpoints from other disciplines. It will be a much needed new perspective for students and scholars in music studies, cultural studies, marketing and consumer studies who wish to gain further insight into commercial aspects of music.

Fluorescent protein expression in temperature tolerant and susceptible reef-building corals

2021 ◽  
pp. 1-10
Author(s):  
Exequiel Gabriel S. Dizon ◽  
Jeric P. Da-Anoy ◽  
Melissa S. Roth ◽  
Cecilia Conaco
Keyword(s):  
Spectral Properties ◽  
Coral Species ◽  
Fluorescent Protein ◽  
Fluorescent Proteins ◽  
Expression Profiles ◽  
Expression Patterns ◽  
Antioxidant Properties ◽  
Variable Expression ◽  
Acropora Digitifera ◽  
Insight Into

Abstract Fluorescent proteins (FPs) are reported to play an important role as photoprotectants and antioxidants in corals subjected to stressful conditions. Identifying the various FP genes expressed and FP gene expression patterns under stress in diverse coral species can provide insight into FP function. In this study, we identified 16 putative FP homologues from the transcriptomes of corals with varying susceptibility to elevated temperature, including Acropora digitifera, Favites colemani, Montipora digitata and Seriatopora caliendrum. Each coral expressed a different complement of FP transcripts, which were predicted to have distinct spectral properties. The most diverse and abundant repertoire of FP transcripts, including at least 6 green FPs, were expressed in the temperature-tolerant coral, F. colemani. In comparison, the other corals expressed fewer FP types. Specific FP transcripts exhibited variable expression profiles in coral fragments subjected to 32 ± 1 °C (treatment) or 28 ± 1 °C (control) for up to 72 h, suggesting that distinct FPs may have different roles. Further studies on the expression of the proteins encoded by these FP transcripts, their fluorescence activity, tissue localization, and possible antioxidant properties, are needed to reveal their contribution to thermal stress tolerance in certain species of corals.

scholarly journals Molecular genetics of bipolar disorder

2001 ◽  
Vol 178 (S41) ◽  
pp. s128-s133 ◽  
Author(s):  
Nick Craddock ◽  
Ian Jones
Keyword(s):  
Bipolar Disorder ◽  
Candidate Gene ◽  
Molecular Genetics ◽  
Ethical Issues ◽  
Association Studies ◽  
Single Gene ◽  
Molecular Genetic ◽  
Genetic Dissection ◽  
Adoption Studies ◽  
Candidate Gene Association

BackgroundA robust body of evidence from family, twin and adoption studies demonstrates the importance of genes in the pathogenesis of bipolar disorder. Recent advances in molecular genetics have made it possible to identify these susceptibility genes.AimsTo present an overview for clinical psychiatrists.MethodReview of current molecular genetics approaches and emerging findings.ResultsOccasional families may exist in which a single gene plays a major role in determining susceptibility, but the majority of bipolar disorder involves more complex genetic mechanisms such as the interaction of multiple genes and environmental factors. Molecular genetic positional and candidate gene approaches are being used for the genetic dissection of bipolar disorder. No gene has yet been identified but promising findings are emerging. Regions of interest include chromosomes 4p16, 12q23–q24, 16p13, 21q22, and Xq24–q26. Candidate gene association studies are in progress but no robust positive findings have yet emerged.ConclusionIt is almost certain that over the next few years the identification of bipolar susceptiblity genes will have a major impact on our understanding of disease pathophysiology. This is likely to lead to major improvements and treatment in patient care, but will also raise important ethical issues.

scholarly journals The distribution of myosin II in Dictyostelium discoideum slug cells.

1991 ◽  
Vol 115 (5) ◽  
pp. 1267-1274 ◽  
Author(s):  
S Eliott ◽  
P H Vardy ◽  
K L Williams
Keyword(s):  
Cell Motility ◽  
Dictyostelium Discoideum ◽  
Immunofluorescence Microscopy ◽  
Molecular Genetic ◽  
Myosin Ii ◽  
Three Dimensional ◽  
Homogeneous Distribution ◽  
Multicellular Development ◽  
Insight Into

While the role of myosin II in muscle contraction has been well characterized, less is known about the role of myosin II in non-muscle cells. Recent molecular genetic experiments on Dictyostelium discoideum show that myosin II is necessary for cytokinesis and multicellular development. Here we use immunofluorescence microscopy with monoclonal and polyclonal antimyosin antibodies to visualize myosin II in cells of the multicellular D. discoideum slug. A subpopulation of peripheral and anterior cells label brightly with antimyosin II antibodies, and many of these cells display a polarized intracellular distribution of myosin II. Other cells in the slug label less brightly and their cytoplasm displays a more homogeneous distribution of myosin II. These results provide insight into cell motility within a three-dimensional tissue and they are discussed in relation to the possible roles of myosin II in multicellular development.

Structural and Molecular Genetic Insight into a Widespread Sulfur Oxidation Pathway

2008 ◽  
Vol 384 (5) ◽  
pp. 1287-1300 ◽  
Author(s):  
Christiane Dahl ◽  
Andrea Schulte ◽  
Yvonne Stockdreher ◽  
Connie Hong ◽  
Frauke Grimm ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Sulfur Oxidation ◽  
Oxidation Pathway ◽  
Insight Into

The Younghusband-Waddell Collection and Its People: the Social Life of Tibetan Books Gathered in a Late-colonial Enterprise

Inner Asia ◽  
2012 ◽  
Vol 14 (1) ◽  
pp. 131-171
Author(s):  
Hildegard Diemberger
Keyword(s):  
Digital Technology ◽  
Social Life ◽  
First Century ◽  
The Political ◽  
Academic Institutions ◽  
Cultural Biography ◽  
The Social ◽  
Twenty First Century ◽  
New Perspective ◽  
Insight Into

AbstractIn this paper I follow the social life of the Tibetan books belonging to the Younghusband-Waddell collection. I show how books as literary artefacts can transform from ritual objects into loot, into commodities and into academic treasures and how books can have agency over people, creating networks and shaping identities. Exploring connections between books and people, I look at colonial collecting, Orientalist scholarship and imperial visions from an unusual perspective in which the social life and cultural biography of people and things intertwine and mutually define each other. By following the trajectory of these literary artefacts, I show how their traces left in letters, minutes and acquisition documents give insight into the functioning of academic institutions and their relationship to imperial governing structures and individual aspirations. In particular, I outline the lives of a group of scholars who were involved with this collection in different capacities and whose deeds are unevenly known. This adds a new perspective to the study of this period, which has so far been largely focused on the deeds of key individuals and the political and military setting in which they operated. Finally, I show how the books of this collection have continued to exercise their attraction and moral pressure on twenty-first-century scholars, both Tibetan and international, linking them through digital technology and cyberspace.

Discovery and Characterization of Differentially Expressed Soybean MiRNAs and Their Targets During Soybean Mosaic Virus Infection Unveils Novel Insight Into Soybean-SMV Interaction

2021 ◽  
Author(s):  
Bowen Li ◽  
Adhimoolam Karthikeyan ◽  
Liqun Wang ◽  
Jinlong Yin ◽  
Tongtong Jin ◽  
...  
Keyword(s):  
Virus Infection ◽  
Mosaic Virus ◽  
Target Genes ◽  
Soybean Mosaic Virus ◽  
Expression Patterns ◽  
Defense Responses ◽  
Pcr Analysis ◽  
Functional Annotations ◽  
Additional Information ◽  
Insight Into

Abstract Background: Soybean mosaic virus (SMV) is the most devastating pathogen of soybean. MicroRNAs (miRNAs) are a class of non-coding RNAs (21-24 nucleotides) and play important roles in regulating defense responses against pathogens. However, miRNA's response to SMV in soybean is not as well documented. Result: In this study, we analyzed 18 miRNA libraries, including three biological replicates from two soybean lines (Resistant and susceptible lines to SMV strain SC3 selected from the near-isogenic lines of Qihuang No. 1× Nannong1138-2) after virus infection at three different time intervals (0 dpi, 7 dpi, and 14 dpi). A total of 1,092 miRNAs, including 608 known miRNAs and 484 novel miRNAs were detected. Differential expression analyses identified the miRNAs responded during soybean-SMV interaction. Then, miRNAs potential target genes were predicted via data mining, and functional annotation was done by Gene Ontology (GO) analysis. Eventually, the expression patterns of several miRNAs validated by quantitative real-time PCR analysis are consistent with sequencing results. Conclusion: We have identified a large number of miRNAs and their target genes and also functional annotations. Our study provides additional information on soybean miRNAs and an insight into the role of miRNAs during SMV-infection in soybean.

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