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Molecular genetics in aquaculture
Rossella Lo Presti,Claudio Lisa,Liliana Di Stasio
Italian Journal of Animal Science , 2010, DOI: 10.4081/ijas.2009.299
Abstract: Great advances in molecular genetics have deeply changed the way of doing research in aquaculture, as it has already done in other fields. The molecular revolution started in the 1980’s, thanks to the widespread use of restriction enzymes and Polymerase Chain Reaction technology, which makes it possible to easily detect the genetic variability directly at the DNA level. In aquaculture, the molecular data are used for several purposes, which can be clustered into two main groups. The first one, focused on individuals, includes the sex identification and parentage assignment, while the second one, focused on populations, includes the wide area of the genetic characterization, aimed at solving taxonomic uncertainties, preserving genetic biodiversity and detecting genetic tags. For the future, the increase in the number of molecular markers and the construction of high density genetic maps, as well as the implementation of genomic resources (including genome sequencing), are expected to provide tools for the genetic improvement of aquaculture species through Marked Assisted Selection. In this review the characteristics of different types of molecular markers, along with their applications to a variety of aquaculture issues are presented.
Cytogenetics and Molecular Genetics of Myxoid Soft-Tissue Sarcomas  [PDF]
Jun Nishio,Hiroshi Iwasaki,Kazuki Nabeshima,Masatoshi Naito
Genetics Research International , 2011, DOI: 10.4061/2011/497148
Abstract: Myxoid soft-tissue sarcomas represent a heterogeneous group of mesenchymal tumors characterized by a predominantly myxoid matrix, including myxoid liposarcoma (MLS), low-grade fibromyxoid sarcoma (LGFMS), extraskeletal myxoid chondrosarcoma (EMC), myxofibrosarcoma, myxoinflammatory fibroblastic sarcoma (MIFS), and myxoid dermatofibrosarcoma protuberans (DFSP). Cytogenetic and molecular genetic analyses have shown that many of these sarcomas are characterized by recurrent chromosomal translocations resulting in highly specific fusion genes (e.g., FUS-DDIT3 in MLS, FUS-CREB3L2 in LGFMS, EWSR1-NR4A3 in EMC, and COL1A1-PDGFB in myxoid DFSP). Moreover, recent molecular analysis has demonstrated a translocation t(1;?10)(p22;?q24) resulting in transcriptional upregulation of FGF8 and NPM3 in MIFS. Most recently, the presence of TGFBR3 and MGEA5 rearrangements has been identified in a subset of MIFS. These genetic alterations can be utilized as an adjunct in diagnostically challenging cases. In contrast, most myxofibrosarcomas have complex karyotypes lacking specific genetic alterations. This paper focuses on the cytogenetic and molecular genetic findings of myxoid soft-tissue sarcomas as well as their clinicopathological characteristics. 1. Introduction Myxoid soft-tissue sarcomas encompass a heterogeneous group of rare tumors characterized by a marked abundance of mucoid/myxoid extracellular matrix. The main clinicopathological entities in this group are myxoid liposarcoma, low-grade fibromyxoid sarcoma, extraskeletal myxoid chondrosarcoma, myxofibrosarcoma, myxoinflammatory fibroblastic sarcoma, and myxoid dermatofibrosarcoma protuberans [1–4]. The correct classification of these sarcomas is important because of their distinct biological behaviors and potentially different treatments. However, it is often difficult to set apart many of these sarcomas due to overlapping histological features and lack of a distinct immunohistochemical profile. Moreover, the use of core needle biopsies to diagnose these sarcomas has become increasingly common, and this shift has created additional challenges. Cytogenetic and molecular genetic assays are routinely used for diagnostic and prognostic purposes in molecular pathology laboratories [5]. Many of myxoid soft-tissue sarcomas are characterized by recurrent chromosomal translocations resulting in highly specific fusion genes [6, 7]. Advances in knowledge of the genetics of these sarcomas are leading to more accurate diagnosis. This paper reviews the cytogenetic and molecular genetic findings in these sarcoma types and
Molecular genetics made simple
Heba Sh. Kassem,Francesca Girolami,Despina Sanoudou
Global Cardiology Science & Practice , 2012, DOI: 10.5339/gcsp.2012.6
Abstract: Genetics have undoubtedly become an integral part of biomedical science and clinical practice, with important implications in deciphering disease pathogenesis and progression, identifying diagnostic and prognostic markers, as well as designing better targeted treatments. The exponential growth of our understanding of different genetic concepts is paralleled by a growing list of genetic terminology that can easily intimidate the unfamiliar reader. Rendering genetics incomprehensible to the clinician however, defeats the very essence of genetic research: its utilization for combating disease and improving quality of life. Herein we attempt to correct this notion by presenting the basic genetic concepts along with their usefulness in the cardiology clinic. Bringing genetics closer to the clinician will enable its harmonious incorporation into clinical care, thus not only restoring our perception of its simple and elegant nature, but importantly ensuring the maximal benefit for our patients.
Molecular biology and genetics of epilepsy.
Willmore LJ,Ueda Y
Acta Medica Okayama , 2002,
Abstract: Genetic and molecular biological methodologies are being applied to the study of patients with epilepsy at an ever-increasing pace. Accurate classification of epilepsy within large families has allowed identification of genes through linkage analysis and then isolation of gene products. Mutations causing ion channel abnormalities coupled with clinical patterns of focal epilepsy syndromes are beginning to change our thinking about the etiology of recurrent seizures in all patients. Molecular methodology is beginning to have impact on understanding of the mechanisms of actions of drugs used to treat epilepsy and will have an impact on how future treatments are designed.
Molecular genetics of atrial fibrillation
Samir B Damani, Eric J Topol
Genome Medicine , 2009, DOI: 10.1186/gm54
Abstract: Atrial fibrillation (AF) has an enormous societal impact because of its very high incidence, its potential for devastating clinical consequences, the difficulty of its management and its associated financial burdens [1-4]. It is the most common persistent cardiac dysrhythmia and also the most common cause of arrhythmia-related hospitalizations [5,6]. The relative risk of death for people with AF is over 20% higher per year than that of age-matched controls, with stroke accounting for the majority of that greater risk [2]. Currently, it is estimated that AF affects approximately 2.3 million people in the United States, with an expected fivefold increase in prevalence by 2050 [7]. With life expectancies increasing in both developed and developing countries, the growing global disability and financial burden of AF has crippling implications for society.Given these projections, new strategies are desperately needed to prevent and better treat AF. Over the past 2 years, there has been an unprecedented series of genomic findings giving us considerable insight into the underpinnings of the most common diseases, including diabetes mellitus, myocardial infarction, various types of cancer and AF [8]. Here, we review the recent advances in the genetics of AF and suggest routes towards an individualized medical approach.Hypertension, heart failure, advanced age and diabetes are well known risk factors for AF [9,10]. However, significant proportions of patients, up to 30% in some large studies, develop AF in the absence of these factors ('lone' AF) [11,12]. Furthermore, multivariable modeling has shown that AF, particularly if premature in onset, more than triples the risk of future disease in offspring [13]. Evidence for even stronger heritability is seen in those with a first-degree relative diagnosed with lone AF before the age of 60; these patients were five times more likely to develop AF than the general population [14,15].Despite the abundance of data implicating a geneti
Universality and predictability in molecular quantitative genetics  [PDF]
Armita Nourmohammad,Torsten Held,Michael L?ssig
Quantitative Biology , 2013,
Abstract: Molecular traits, such as gene expression levels or protein binding affinities, are increasingly accessible to quantitative measurement by modern high-throughput techniques. Such traits measure molecular functions and, from an evolutionary point of view, are important as targets of natural selection. We review recent developments in evolutionary theory and experiments that are expected to become building blocks of a quantitative genetics of molecular traits. We focus on universal evolutionary characteristics: these are largely independent of a trait's genetic basis, which is often at least partially unknown. We show that universal measurements can be used to infer selection on a quantitative trait, which determines its evolutionary mode of conservation or adaptation. Furthermore, universality is closely linked to predictability of trait evolution across lineages. We argue that universal trait statistics extends over a range of cellular scales and opens new avenues of quantitative evolutionary systems biology.
Chondrosarcoma: With Updates on Molecular Genetics  [PDF]
Mi-Jung Kim,Kyung-Ja Cho,Alberto G. Ayala,Jae Y. Ro
Sarcoma , 2011, DOI: 10.1155/2011/405437
Abstract: Chondrosarcoma (CHS) is a malignant cartilage-forming tumor and usually occurs within the medullary canal of long bones and pelvic bones. Based on the morphologic feature alone, a correct diangosis of CHS may be difficult, Therefore, correlation of radiological and clinicopathological features is mandatory in the diagnosis of CHS. The prognosis of CHS is closely related to histologic grading, however, histologic grading may be subjective with high inter-observer variability. In this paper, we present histologic grading system and clinicopathological and radiological findings of conventional CHS. Subtypes of CHSs, such as dedifferentiated, mesenchymal, and clear cell CHSs are also presented. In addition, we introduce updated cytogenetic and molecular genetic findings to expand our understanding of CHS biology. New markers of cell differentiation, proliferation, and cell signaling might offer important therapeutic and prognostic information in near future.
Molecular genetics of colorectal cancer
Cruz-Bustillo Clarens,D.;
Revista Espa?ola de Enfermedades Digestivas , 2004, DOI: 10.4321/S1130-01082004000100007
Abstract: colorectal tumours constitute an excellent system to study carcinogenesis and the molecular events implicated in the development of cancer. attending to the way it is transmitted, colorectal cancer may appear in one of three forms: sporadic, familial, and hereditary. the sporadic form is most common and has no familial or hereditary associated factor thus far, while familial and hereditary forms show the same inheritance pattern. hereditary colorectal cancers develop by means of defined stages that go from lesions in the crypt of the colon through adenomas to manifest cancer. they are characterised by the accumulation of multiple mutations in tumour suppressor genes and oncogenes that affect the balance between cell proliferation and apoptosis. the colorectal carcinogenesis pathway is not unique and there are probably several ways for the initiation, development and progression of colorectal tumours.
Chondrosarcoma: With Updates on Molecular Genetics  [PDF]
Mi-Jung Kim,Kyung-Ja Cho,Alberto G. Ayala,Jae Y. Ro
Sarcoma , 2011, DOI: 10.1155/2011/405437
Abstract: Chondrosarcoma (CHS) is a malignant cartilage-forming tumor and usually occurs within the medullary canal of long bones and pelvic bones. Based on the morphologic feature alone, a correct diangosis of CHS may be difficult, Therefore, correlation of radiological and clinicopathological features is mandatory in the diagnosis of CHS. The prognosis of CHS is closely related to histologic grading, however, histologic grading may be subjective with high inter-observer variability. In this paper, we present histologic grading system and clinicopathological and radiological findings of conventional CHS. Subtypes of CHSs, such as dedifferentiated, mesenchymal, and clear cell CHSs are also presented. In addition, we introduce updated cytogenetic and molecular genetic findings to expand our understanding of CHS biology. New markers of cell differentiation, proliferation, and cell signaling might offer important therapeutic and prognostic information in near future. 1. Introduction Chondrosarcoma (CHS) is a rare malignant tumor that produces cartilage matrix. The estimated overall incidence of CHSs is 1 in 200,000 per year [1], and it is the third most frequent malignant bone tumor after multiple myeloma and osteosarcoma. It is estimated that CHSs account for approximately 3.6% of the annual incidence of all primary bone malignancies in the USA [2] and 20~30% of primary malignant bone tumors [3]. CHSs that arise de novo are called primary CHSs, whereas CHSs developing superimposed on preexisting benign cartilage tumors such as an enchondroma or osteochondroma are referred to as secondary CHSs. CHSs are a heterogeneous group of tumors that can be categorized by anatomic location as central when they occur within the medullary canal or peripheral when they occur in the cartilage cap of an exostosis. In addition to conventional CHSs that show hyaline cartilage differentiation, there are other types of CHSs such as dedifferentiated, mesenchymal, or clear cell, subtypes which show distinct genetic and clinicopathologic characteristics [4] (Tables 1 and 2). Myxoid CHS is not included in this paper because its existence in bone is highly controversial. Table 1: Classification of CHSs. Table 2: Summary of frequency, age, sex, and prognosis of CHSs. Most (about 85%) of CHSs, however, are of conventional CHSs, and the majority arises in the medullary cavity of long bone. The minority (up to 15%) of conventional CHSs is secondary peripheral CHSs which develop from the surface of bone as a result of malignant transformation within the cartilage cap of a preexisting benign
Design of siRNA Therapeutics from the Molecular Scale  [PDF]
Phillip Angart,Daniel Vocelle,Christina Chan,S. Patrick Walton
Pharmaceuticals , 2013, DOI: 10.3390/ph6040440
Abstract: While protein-based therapeutics is well-established in the market, development of nucleic acid therapeutics has lagged. Short interfering RNAs (siRNAs) represent an exciting new direction for the pharmaceutical industry. These small, chemically synthesized RNAs can knock down the expression of target genes through the use of a native eukaryotic pathway called RNA interference (RNAi). Though siRNAs are routinely used in research studies of eukaryotic biological processes, transitioning the technology to the clinic has proven challenging. Early efforts to design an siRNA therapeutic have demonstrated the difficulties in generating a highly-active siRNA with good specificity and a delivery vehicle that can protect the siRNA as it is transported to a specific tissue. In this review article, we discuss design considerations for siRNA therapeutics, identifying criteria for choosing therapeutic targets, producing highly-active siRNA sequences, and designing an optimized delivery vehicle. Taken together, these design considerations provide logical guidelines for generating novel siRNA therapeutics.
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