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Advances in Genetics

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https://www.readbyqxmd.com/read/29050556/preface
#1
EDITORIAL
Stephen F Goodwin
No abstract text is available yet for this article.
2017: Advances in Genetics
https://www.readbyqxmd.com/read/29050555/natural-variation-in-human-clocks
#2
Malcolm von Schantz
Our own species has a diurnal activity pattern and an average circadian period of 24.2h. Exact determination of circadian period requires expensive and intrusive protocols, and investigators are therefore using chronotype questionnaires as a proxy quantitative measure. Both measures show a normal distribution suggestive of a polygenic trait. The genetic components of the 24-h feedback loop that generates circadian rhythms within our cells have been mapped in detail, identifying a number of candidate genes which have been investigated for genetic polymorphisms relating to the phenotypic variance...
2017: Advances in Genetics
https://www.readbyqxmd.com/read/29050554/natural-variation-and-genetics-of-photoperiodism-in-wyeomyia-smithii
#3
William E Bradshaw, Christina M Holzapfel
Seasonal change in the temperate and polar regions of Earth determines how the world looks around us and, in fact, how we live our day-to-day lives. For biological organisms, seasonal change typically involves complex physiological and metabolic reorganization, the majority of which is regulated by photoperiodism. Photoperiodism is the ability of animals and plants to use day length or night length, resulting in life-historical transformations, including seasonal development, migration, reproduction, and dormancy...
2017: Advances in Genetics
https://www.readbyqxmd.com/read/29050553/natural-variation-of-the-circadian-clock-in-neurospora
#4
Bala S C Koritala, Kwangwon Lee
Most living organisms on earth experience daily and expected changes from the rotation of the earth. For an organism, the ability to predict and prepare for incoming stresses or resources is a very important skill for survival. This cellular process of measuring daily time of the day is collectively called the circadian clock. Because of its fundamental role in survival in nature, there is a great interest in studying the natural variation of the circadian clock. However, characterizing the genetic and molecular mechanisms underlying natural variation of circadian clocks remains a challenging task...
2017: Advances in Genetics
https://www.readbyqxmd.com/read/28942795/genetics-of-mitochondrial-disease
#5
Russell P Saneto
Mitochondria are intracellular organelles responsible for adenosine triphosphate production. The strict control of intracellular energy needs require proper mitochondrial functioning. The mitochondria are under dual controls of mitochondrial DNA (mtDNA) and nuclear DNA (nDNA). Mitochondrial dysfunction can arise from changes in either mtDNA or nDNA genes regulating function. There are an estimated ∼1500 proteins in the mitoproteome, whereas the mtDNA genome has 37 proteins. There are, to date, ∼275 genes shown to give rise to disease...
2017: Advances in Genetics
https://www.readbyqxmd.com/read/28942794/the-genetics-of-parkinson%C3%A2-disease
#6
Lina Mastrangelo
The 200years of research efforts on Parkinson disease (PD) form the basis of our understanding of the second most common neurodegenerative disorder after Alzheimer disease. This journey has been marked by the revolutionary discovery of a neurotransmitter replacement therapy that provides a longer and healthier life to patients. Since 1997, the advances in the genetics of PD have expanded our understanding of this neurodegenerative disorder and they are opening up new ways to search for disease-modifying therapies...
2017: Advances in Genetics
https://www.readbyqxmd.com/read/28942793/delivery-of-biomolecules-via-extracellular-vesicles-a-budding-therapeutic-strategy
#7
Devin M Stranford, Joshua N Leonard
Extracellular vesicles (EVs) are membrane-enclosed particles that are secreted by nearly all cells and play an important role in intercellular communication by transporting protein and nucleic acids between cells. EV-mediated processes shape phenomena as diverse as cancer progression, immune function, and wound healing. The natural role of EVs in encapsulating and delivering cargo to modify cellular function highlights the potential to use these particles as therapeutic delivery vehicles. In this chapter, we describe emerging strategies for EV engineering and consider how different approaches to EV production, purification, and design may impact the efficacy of EV-based therapeutics...
2017: Advances in Genetics
https://www.readbyqxmd.com/read/28942792/evolutionary-trajectories-of-entomopathogenic-fungi-abc-transporters
#8
Bikash Baral
The ABC protein superfamily-also called traffic ATPases-are energy-dependent ubiquitous proteins, representing one of the crucial and the largest family in the fungal genomes. The ATP-binding cassette endows a characteristic 200-250 amino acids and is omnipresent in all organisms ranging from prokaryotes to eukaryotes. Unlike in bacteria with nutrient import functions, ABC transporters in fungal entomopathogens serve as effective efflux pumps that are largely involved in the shuttle of metabolites across the biological membranes...
2017: Advances in Genetics
https://www.readbyqxmd.com/read/28942791/evolving-centromeres-and-kinetochores
#9
Steven Friedman, Michael Freitag
The genetic material, contained on chromosomes, is often described as the "blueprint for life." During nuclear division, the chromosomes are pulled into each of the two daughter nuclei by the coordination of spindle microtubules, kinetochores, centromeres, and chromatin. These four functional units must link the chromosomes to the microtubules, signal to the cell when the attachment is made so that division can proceed, and withstand the force generated by pulling the chromosomes to either daughter cell. To perform each of these functions, kinetochores are large protein complexes, approximately 5MDa in size, and they contain at least 45 unique proteins...
2017: Advances in Genetics
https://www.readbyqxmd.com/read/28838357/integrated-genomic-medicine-a%C3%A2-paradigm-for-rare-diseases-and-beyond
#10
N J Schork, K Nazor
Individualized medicine, or the tailoring of therapeutic interventions to a patient's unique genetic, biochemical, physiological, exposure and behavioral profile, has been enhanced, if not enabled, by modern biomedical technologies such as high-throughput DNA sequencing platforms, induced pluripotent stem cell assays, biomarker discovery protocols, imaging modalities, and wireless monitoring devices. Despite successes in the isolated use of these technologies, however, it is arguable that their combined and integrated use in focused studies of individual patients is the best way to not only tailor interventions for those patients, but also shed light on treatment strategies for patients with similar conditions...
2017: Advances in Genetics
https://www.readbyqxmd.com/read/28838356/sleeping-beauty-developmental-timing-sleep-and-the-circadian-clock-in-caenorhabditis-elegans
#11
M Olmedo, M Merrow, M Geibel
The genetics toolkit is pretty successful in drilling down into minutiae. The big challenge is to integrate the information from this specialty as well as those of biochemistry, physiology, behavior, and anatomy to explain how fundamental biological processes really work. Sleep, the circadian clock and development all qualify as overarching processes that encompass levels from molecule to behavior as part of their known mechanisms. They overlap each other, such that understanding the mechanisms of one can lead to insights into one of the others...
2017: Advances in Genetics
https://www.readbyqxmd.com/read/28838355/sixteen-years-of-meiotic-silencing-by-unpaired-dna
#12
T M Hammond
The filamentous fungus Neurospora crassa possesses a process called meiotic silencing by unpaired DNA (MSUD). MSUD has a remarkable ability to scan homologous chromosomes for unpaired DNA during meiosis. After unpaired DNA is identified, MSUD silences all RNA from the unpaired DNA along with any RNA transcribed from homologous sequences at other locations in the genome, regardless of their pairing state. The mechanism by which unpaired DNA is detected is unknown. Unpaired DNA segments can be as short as 1.3kb, if not shorter, and DNA sequences with only a small level of polymorphism (6%) can be considered unpaired by MSUD...
2017: Advances in Genetics
https://www.readbyqxmd.com/read/27968732/genetics-of-schizophrenia-historical-insights-and-prevailing-evidence
#13
REVIEW
J van de Leemput, J L Hess, S J Glatt, M T Tsuang
Schizophrenia's (SZ's) heritability and familial transmission have been known for several decades; however, despite the clear evidence for a genetic component, it has been very difficult to pinpoint specific causative genes. Even so genetic studies have taught us a lot, even in the pregenomic era, about the molecular underpinnings and disease-relevant pathways. Recurring themes emerged revealing the involvement of neurodevelopmental processes, glutamate regulation, and immune system differential activation in SZ etiology...
2016: Advances in Genetics
https://www.readbyqxmd.com/read/27968731/advances-in-dyslexia-genetics-new-insights-into-the-role-of-brain-asymmetries
#14
REVIEW
S Paracchini, R Diaz, J Stein
Dyslexia is a common condition affecting up to 10% school-aged children. There is strong evidence that genetics plays an important role in dyslexia and is expected to be complex in nature. Few specific susceptibility factors have been identified so far, but their functional characterization has provided novel insights into the biology of dyslexia. In particular, they point to an unexpected role of candidate genes for dyslexia in the biology of cilia, cellular organelles required in many processes including the establishment of left-right asymmetries early in development...
2016: Advances in Genetics
https://www.readbyqxmd.com/read/27968730/the-functionality-and-evolution-of-eukaryotic-transcriptional-enhancers
#15
REVIEW
A D Buffry, C C Mendes, A P McGregor
Enhancers regulate precise spatial and temporal patterns of gene expression in eukaryotes and, moreover, evolutionary changes in these modular cis-regulatory elements may represent the predominant genetic basis for phenotypic evolution. Here, we review approaches to identify and functionally analyze enhancers and their transcription factor binding sites, including assay for transposable-accessible chromatin-sequencing (ATAC-Seq) and clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9, respectively...
2016: Advances in Genetics
https://www.readbyqxmd.com/read/27968729/fungal-light-sensing-at-the-bench-and-beyond
#16
REVIEW
K K Fuller, J C Dunlap, J J Loros
Visible light is a pervasive environmental signal that orients most organisms in space and time. For a fungus, the detection of light is facilitated by diverse classes of photoreceptor proteins, which in turn coordinate growth, spore dispersal, stress resistance, primary metabolism, and toxin production. We will first provide a discussion on signal input, focusing on recent insights into how fungal photoreceptors detect and transmit information at the biochemical and molecular levels. We will then pivot our discussion to how light influences fungal behaviors that are of industrial, agricultural, or even medical relevance...
2016: Advances in Genetics
https://www.readbyqxmd.com/read/27503359/transcriptomic-approaches-in-the-zebrafish-model-for-tuberculosis-insights-into-host-and-pathogen-specific-determinants-of-the-innate-immune-response
#17
REVIEW
E L Benard, J Rougeot, P I Racz, H P Spaink, A H Meijer
Mycobacterium marinum infection in zebrafish has become a well-established model of tuberculosis. Both embryonic and adult zebrafish infection studies have contributed to our knowledge of the development and function of tuberculous granulomas, which are typical of mycobacterial pathogenesis. In this review we discuss how transcriptome profiling studies have helped to characterize this infection process. We illustrate this using new RNA sequencing (RNA-Seq) data that reveals three main phases in the host response to M...
2016: Advances in Genetics
https://www.readbyqxmd.com/read/27503358/the-zebrafish-as-model-for-deciphering-the-regulatory-architecture-of-vertebrate-genomes
#18
REVIEW
S Rastegar, U Strähle
Despite enormous progress to map cis-regulatory modules (CRMs), like enhancers and promoters in genomes, elucidation of the regulatory landscape of the developing embryo remains a challenge. The zebrafish embryo with its experimental virtues has a great potential to contribute to this endeavor. However, so far progress remained behind expectation. We discuss here available methods and their limitations and how the zebrafish embryo could contribute in the future to unravel the wiring of the vertebrate genome...
2016: Advances in Genetics
https://www.readbyqxmd.com/read/27503357/transcriptional-regulation-during-zygotic-genome-activation-in-zebrafish-and-other-anamniote-embryos
#19
REVIEW
J Wragg, F Müller
Embryo development commences with the fusion of two terminally differentiated haploid gametes into the totipotent fertilized egg, which through a series of major cellular and molecular transitions generate a pluripotent cell mass. The activation of the zygotic genome occurs during the so-called maternal to zygotic transition and prepares the embryo for zygotic takeover from maternal factors, in the control of the development of cellular lineages during differentiation. Recent advances in next generation sequencing technologies have allowed the dissection of the genomic and epigenomic processes mediating this transition...
2016: Advances in Genetics
https://www.readbyqxmd.com/read/27503356/evolutionary-genetics-of-the-cavefish-astyanax-mexicanus
#20
REVIEW
D Casane, S Rétaux
Blind and depigmented fish belonging to the species Astyanax mexicanus are outstanding models for evolutionary genetics. During their evolution in the darkness of caves, they have undergone a number of changes at the morphological, physiological, and behavioral levels, but they can still breed with their river-dwelling conspecifics. The fertile hybrids between these two morphotypes allow forward genetic approaches, from the search of quantitative trait loci to the identification of the mutations underlying the evolution of troglomorphism...
2016: Advances in Genetics
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