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Evolution, Composition and Regulation of Supernumerary B Chromosomes

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ISBN: 9783038977865 / 9783038977872 Year: Pages: 254 DOI: 10.3390/books978-3-03897-787-2 Language: eng
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Science (General) --- Biology
Added to DOAB on : 2019-08-28 11:21:28
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Abstract

Supernumerary B chromosomes (Bs) are dispensable genetic elements found in thousands of species of plants and animals, and some fungi. Since their discovery more than a century ago, they have been a source of puzzlement, as they only occur in some members of a population and are absent from others. When they do occur, they are often harmful, and in the absence of “selfishness”, based on mechanisms of mitotic and meiotic drive, there appears to be no obvious reason for their existence. Cytogeneticists have long wrestled with questions about the biological existence of these enigmatic elements, including their lack of any adaptive properties, apparent absence of functional genes, their origin, sequence organization, and co-evolution as nuclear parasites. Emerging new technologies are now enabling researchers to step up a gear, to look enthusiastically beyond the previous limits of the horizon, and to uncover the secrets of these “silent” chromosomes. This book provides a comprehensive guide to theoretical advancements in the field of B chromosome research in both animal and plant systems.

Keywords

repetitive elements --- RNA-Seq --- genomics --- evolution --- cytogenetics --- supernumerary elements --- extra chromosomes --- B chromosomes --- transmission --- drive --- host/parasite interaction --- supernumerary chromosomes --- karyotype evolution --- genome instability --- supernumerary chromosomes --- heterochromatin --- parent-of-origin effects --- paternal X chromosome --- maternal X chromosome --- controlling element --- teleost --- population analysis --- whole genome resequencing --- DNA copy number variation --- ribosomal DNA --- B chromosomes --- FISH (fluorescence in situ hybridisation) --- GISH (genomic in situ hybridisation) --- Prospero autumnale complex --- supernumerary chromosomal segments (SCS) evolution --- tandem repeats --- Drosophila --- supernumerary --- satellite DNA --- sSMC --- B chromosomes --- dot-like (micro) Bs --- karyotypic characteristics --- ?s --- B morphotypes --- Apodemus peninsulae --- maize B chromosome --- centromere --- inactivation --- reactivation --- de novo centromere formation --- epigenetics --- supernumerary chromosomes --- additional chromosomes --- chromosome polymorphism --- evolution --- B chromosomes --- karyotypes --- genome evolution --- interphase nucleus --- mammals --- genes --- repetitive DNA --- transcription of heterochromatin --- B chromosomes --- grasshoppers --- DNA composition --- repeat clusters --- euchromatin degradation --- microdissected DNA probes --- B chromosome --- satellite DNA --- mobile element --- organelle DNA --- chromosome evolution --- fluorescent in situ hybridization --- Orthoptera --- satellite DNA --- supernumerary chromosome --- RepeatExplorer --- supernumerary chromosomes --- B chromosomes --- next-generation sequencing --- coverage ratio analysis --- n/a --- B chromosome --- transmission --- origin --- drive --- n/a

Towards Mechanism-based Treatments for Fragile X Syndrome

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ISBN: 9783039215058 / 9783039215065 Year: Pages: 250 DOI: 10.3390/books978-3-03921-506-5 Language: eng
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Science (General) --- Biology
Added to DOAB on : 2019-12-09 11:49:15
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Abstract

It has been more than 25 years since the identification of the FMR1 gene and the demonstration of the causative role of CGG-repeat expansion in the disease pathology of fragile X syndrome (FXS), but the underlying mechanisms involved in the expansion mutation and the resulting gene silencing still remain elusive. Our understanding of the pathways impacted by the loss of FMRP function has grown tremendously, and has opened new avenues for targeted treatments for FXS. However, the failure of recent clinical trials that were based on successful preclinical studies using the Fmr1 knockout mouse model has forced the scientific community to revisit clinical trial design and identify objective outcome measures. There has also been a renewed interest in restoring FMR1 gene expression as a possible treatment approach for FXS. This special issue of Brain Sciences highlights the progress that has been made towards understanding the disease mechanisms and how this has informed the development of treatment strategies that are being explored for FXS.

Keywords

fragile X syndrome --- clinical trials --- targeted treatments --- drug development --- fragile X syndrome --- clinical trials --- treatment development --- best practices --- fragile X syndrome --- newborn screening --- early identification --- fragile X syndrome --- X chromosome --- females --- FMR1 --- anxiety --- avoidance --- cognition --- behavior --- brain --- Fragile X --- FMRP --- Fxr2 --- Fmr1 --- fragile X syndrome --- executive function --- working memory --- set-shifting --- cognitive flexibility --- inhibitory control --- attention --- planning --- processing speed --- Fragile X syndrome 1 --- Fragile X-associated Tremor/Ataxia Syndrome 2 --- CRISPR 3 --- Trinucleotide Repeat 4 --- Gene editing --- fragile X syndrome --- FMR1 gene --- voice of the person --- voice of the patient --- characteristics that have the greatest impact --- developmental disorders --- fragile X syndrome --- language development --- automated vocal analysis --- adeno-associated virus --- autism spectrum disorders --- cerebral spinal fluid --- fragile X mental retardation protein --- neurodevelopmental disorders --- viral vector --- fragile X syndrome --- gene reactivation --- RNA:DNA hybrid --- FMRP --- histone methylation --- DNA methylation --- FMR1 --- PRC2 --- fragile X syndrome --- unstable repeat diseases --- epigenetic gene silencing --- DNA methylation --- repeat instability --- pluripotent stem cells --- CGG Repeat Expansion Disease --- DNA instability --- expansion --- contraction --- mismatch repair (MMR) --- base excision repair (BER) --- transcription coupled repair (TCR) --- double-strand break repair (DSBR) --- Non-homologous end-joining (NHEJ) --- mosaicism --- protein synthesis --- Fragile X Syndrome --- biomarker --- iPSC --- fibroblast --- lymphoblast --- fragile X syndrome --- molecular biomarkers --- FMR1 --- FMRP --- intellectual disability --- Fmr1 KO mouse --- ASD --- n/a

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MDPI - Multidisciplinary Digital Publishing Institute (2)


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eng (2)


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2019 (2)