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https://www.readbyqxmd.com/read/29332164/skewing-of-the-genetic-architecture-at-the-zmym3-human-specific-5-utr-short-tandem-repeat-in-schizophrenia
#1
F Alizadeh, A Bozorgmehr, J Tavakkoly-Bazzaz, M Ohadi
Differential expansion of a number of human short tandem repeats (STRs) at the critical core promoter and 5' untranslated region (UTR) support the hypothesis that at least some of these STRs may provide a selective advantage in human evolution. Following a genome-wide screen of all human protein-coding gene 5' UTRs based on the Ensembl database ( http://www.ensembl.org ), we previously reported that the longest STR in this interval is a (GA)32, which belongs to the X-linked zinc finger MYM-type containing 3 (ZMYM3) gene...
January 13, 2018: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/29325969/population-structure-and-genetic-diversity-of-rhipicephalus-microplus-in-zimbabwe
#2
Marvelous Sungirai, Samantha Baron, Nicolaas A Van der Merwe, Doreen Zandile Moyo, Patrick De Clercq, Christine Maritz-Olivier, Maxime Madder
Recently there was an expansion in the geographic range of Rhipicephalus microplus in Zimbabwe. In order to understand gene flow patterns and population structure in this highly invasive and adaptable cattle tick, a population genetics study was carried out. Eighty-seven R. microplus tick samples drawn from 5 distinct populations were genotyped using eight polymorphic microsatellite loci. Genetic diversity (He) was high (0.755-0.802) in all the populations, suggesting high levels of gene flow with 97% of genetic variation found within populations and 3% amongst populations...
January 8, 2018: Acta Tropica
https://www.readbyqxmd.com/read/29325626/fragile-x-syndrome-and-fragile-x-associated-tremor-ataxia-syndrome
#3
Deborah A Hall, Elizabeth Berry-Kravis
Fragile X-associated disorders encompass several conditions, which are caused by expansion mutations in the fragile X mental retardation 1 (FMR1) gene. Fragile X syndrome is the most common inherited etiology of intellectual disability and results from a full mutation or >200 CGG repeats in FMR1. It is associated with developmental delay, autism spectrum disorder, and seizures. Fragile X-associated tremor/ataxia syndrome is a progressive neurodegenerative disease that occurs in premutation carriers of 55-200 CGG repeats in FMR1 and is characterized by kinetic tremor, gait ataxia, parkinsonism, executive dysfunction, and neuropathy...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325609/the-cag-polyglutamine-repeat-diseases-a-clinical-molecular-genetic-and-pathophysiologic-nosology
#4
Colleen A Stoyas, Albert R La Spada
Throughout the genome, unstable tandem nucleotide repeats can expand to cause a variety of neurologic disorders. Expansion of a CAG triplet repeat within a coding exon gives rise to an elongated polyglutamine (polyQ) tract in the resultant protein product, and accounts for a unique category of neurodegenerative disorders, known as the CAG-polyglutamine repeat diseases. The nine members of the CAG-polyglutamine disease family include spinal and bulbar muscular atrophy (SBMA), Huntington disease, dentatorubral pallidoluysian atrophy, and six spinocerebellar ataxias (SCA 1, 2, 3, 6, 7, and 17)...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325606/repeat-expansion-diseases
#5
Henry Paulson
More than 40 diseases, most of which primarily affect the nervous system, are caused by expansions of simple sequence repeats dispersed throughout the human genome. Expanded trinucleotide repeat diseases were discovered first and remain the most frequent. More recently tetra-, penta-, hexa-, and even dodeca-nucleotide repeat expansions have been identified as the cause of human disease, including some of the most common genetic disorders seen by neurologists. Repeat expansion diseases include both causes of myotonic dystrophy (DM1 and DM2), the most common genetic cause of amyotrophic lateral sclerosis/frontotemporal dementia (C9ORF72), Huntington disease, and eight other polyglutamine disorders, including the most common forms of dominantly inherited ataxia, the most common recessive ataxia (Friedreich ataxia), and the most common heritable mental retardation (fragile X syndrome)...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325134/continued-propagation-of-the-crf19_cpx-variant-among-hiv-positive-msm-patients-in-spain
#6
S Pérez-Parra, M Álvarez, J A Fernandez-Caballero, A B Pérez, J Santos, O Bisbal, A Aguilera, M Rivero, L García-Fraile, F García
Objectives: The HIV-1 CRF19_cpx genetic form has been recently associated with greater pathogenicity. We used CoRIS, a national cohort of 31 reference hospitals in Spain, to investigate the current epidemiological situation of this variant in Spain. Patients and methods: We analysed 4734 naive HIV-1-positive patients diagnosed during the 2007-15 period with an available pol gene sequence in the CoRIS resistance database. HIV-1 CRF19_cpx was ascribed through REGA3...
January 8, 2018: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/29324975/strong-population-bottleneck-and-repeated-demographic-expansions-of-populus-adenopoda-salicaceae-in-subtropical-china
#7
Liqiang Fan, Honglei Zheng, Richard I Milne, Lei Zhang, Kangshan Mao
Background and Aims: Glacial refugia and inter-/postglacial recolonization routes during the Quaternary of tree species in Europe and North America are well understood, but far less is known about those of tree species in subtropical eastern Asia. Thus, we have examined the phylogeographic history of Populus adenopoda (Salicaceae), one of the few poplars that naturally occur in this subtropical area. Methods: Genetic variations across the range of the species in subtropical China were surveyed using ten nuclear microsatellite loci and four chloroplast fragments (matK, trnG-psbK, psbK-psbI and ndhC-trnV)...
January 6, 2018: Annals of Botany
https://www.readbyqxmd.com/read/29324738/population-structure-analysis-of-the-neglected-parasite-thelazia-callipaeda-revealed-high-genetic-diversity-in-eastern-asia-isolates
#8
Xi Zhang, Ya Li Shi, Lu Lu Han, Chen Xiong, Shi Qi Yi, Peng Jiang, Zeng Xian Wang, Ji Long Shen, Jing Cui, Zhong Quan Wang
BACKGROUND: Thelazia callipaeda is the causative agent of thelaziasis in canids, felids and humans. However, the population genetic structure regarding this parasite remains unclear. METHODOLOGY/PRINCIPAL FINDINGS: In this study, we first explored the genetic variation of 32 T. callipaeda clinical isolates using the following multi-molecular markers: cox1, cytb, 12S rDNA, ITS1 and 18S rDNA. The isolates were collected from 13 patients from 11 geographical locations in China...
January 11, 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29321868/global-mtdna-genetic-structure-and-hypothesized-invasion-history-of-a-major-pest-of-citrus-diaphorina-citri-hemiptera-liviidae
#9
Yufa Luo, Ingi Agnarsson
The Asian citrus psyllid Diaphorina citri Kuwayama is a key pest of citrus as the vector of the bacterium causing the "huanglongbing" disease (HLB). To assess the global mtDNA population genetic structure, and possible dispersal history of the pest, we investigated genetic variation at the COI gene collating newly collected samples with all previously published data. Our dataset consists of 356 colonies from 106 geographic sites worldwide. High haplotype diversity (H-mean = 0.702 ± 0.017), low nucleotide diversity (π-mean = 0...
January 2018: Ecology and Evolution
https://www.readbyqxmd.com/read/29321849/population-genomics-and-geographical-parthenogenesis-in-japanese-harvestmen-opiliones-sclerosomatidae-leiobunum
#10
Mercedes Burns, Marshal Hedin, Nobuo Tsurusaki
Naturally occurring population variation in reproductive mode presents an opportunity for researchers to test hypotheses regarding the evolution of sex. Asexual reproduction frequently assumes a geographical pattern, in which parthenogenesis-dominated populations are more broadly dispersed than their sexual conspecifics. We evaluate the geographical distribution of genomic signatures associated with parthenogenesis using nuclear and mitochondrial DNA sequence data from two Japanese harvestman sister taxa, Leiobunum manubriatum and Leiobunum globosum...
January 2018: Ecology and Evolution
https://www.readbyqxmd.com/read/29319812/deuterostome-genomics-lineage-specific-protein-expansions-that-enabled-chordate-muscle-evolution
#11
Jun Inoue, Noriyuki Satoh
Fish-like larvae were foundational to the chordate body plan, given the basal placement of free-living lancelets. That body plan probably made it possible for chordate ancestors to swim by beating a tail formed of notochord and bilateral paraxial muscles. In order to investigate the molecular genetic basis of the origin and evolution of paraxial muscle, we deduced the evolutionary histories of 16 contractile protein genes from paraxial muscle, based on genomic data from all five deuterostome lineages, using a newly developed orthology identification pipeline and a species tree...
January 8, 2018: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/29316893/frequency-of-sca8-sca10-sca12-sca36-fxtas-and-c9orf72-repeat-expansions-in-sca-patients-negative-for-the-most-common-sca-subtypes
#12
Gülsah Aydin, Gabriele Dekomien, Sabine Hoffjan, Wanda Maria Gerding, Jörg T Epplen, Larissa Arning
BACKGROUND: Spinocerebellar ataxia (SCA) subtypes are often caused by expansions in non-coding regions of genes like SCA8, SCA10, SCA12 and SCA36. Other ataxias are known to be associated with repeat expansions such as fragile X-associated tremor ataxia syndrome (FXTAS) or expansions in the C9orf72 gene. When no mutation has been identified in the aforementioned genes next-generation sequencing (NGS)-based diagnostics may also be applied. In order to define an optimal diagnostic strategy, more information about the frequency and phenotypic characteristics of rare repeat expansion disorders associated with ataxia should be at hand...
January 9, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29315358/htt-db-new-features-and-updates
#13
Bruno Reis Dotto, Evelise Leis Carvalho, Alexandre Freitas da Silva, Filipe Zimmer Dezordi, Paulo Marcos Pinto, Tulio de Lima Campos, Antonio Mauro Rezende, Gabriel da Luz Wallau
Horizontal Transfer (HT) of genetic material between species is a common phenomenon among Bacteria and Archaea species and several databases are available for information retrieval and data mining. However, little attention has been given to this phenomenon among eukaryotic species mainly due to the lower proportion of these events. In the last years, a vertiginous amount of new HT events involving eukaryotic species was reported in the literature, highlighting the need of a common repository to keep the scientific community up to date and describe overall trends...
January 1, 2018: Database: the Journal of Biological Databases and Curation
https://www.readbyqxmd.com/read/29313877/matriclans-shape-populations-insights-from-the-angolan-namib-desert-into-the-maternal-genetic-history-of-southern-africa
#14
Sandra Oliveira, Anne-Maria Fehn, Teresa Aço, Fernanda Lages, Magdalena Gayà-Vidal, Brigitte Pakendorf, Mark Stoneking, Jorge Rocha
OBJECTIVES: Southern Angola is a poorly studied region, inhabited by populations that have been associated with different migratory movements into southern Africa. Apart from Kx'a-speaking San foragers and Bantu-speaking pastoralists, ethnographic and linguistic studies have suggested the existence of an enigmatic array of pre-Bantu communities, like the Kwepe (formerly Khoe-Kwadi speakers), Twa and Kwisi. Here, we evaluate previous peopling hypotheses by assessing the relationships between different southern Angolan populations, based on newly collected linguistic data and complete mtDNA genomes...
January 3, 2018: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/29311336/troy-brain-stem-cells-cycle-through-quiescence-and-regulate-their-number-by-sensing-niche-occupancy
#15
Onur Basak, Teresa G Krieger, Mauro J Muraro, Kay Wiebrands, Daniel E Stange, Javier Frias-Aldeguer, Nicolas C Rivron, Marc van de Wetering, Johan H van Es, Alexander van Oudenaarden, Benjamin D Simons, Hans Clevers
The adult mouse subependymal zone provides a niche for mammalian neural stem cells (NSCs). However, the molecular signature, self-renewal potential, and fate behavior of NSCs remain poorly defined. Here we propose a model in which the fate of active NSCs is coupled to the total number of neighboring NSCs in a shared niche. Using knock-in reporter alleles and single-cell RNA sequencing, we show that the Wnt target Tnfrsf19/Troy identifies both active and quiescent NSCs. Quantitative analysis of genetic lineage tracing of individual NSCs under homeostasis or in response to injury reveals rapid expansion of stem-cell number before some return to quiescence...
January 8, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29306351/dissection-of-ancestral-genetic-contributions-to-creole-goat-populations
#16
N Sevane, O Cortés, L T Gama, A Martínez, P Zaragoza, M Amills, D O Bedotti, C Bruno de Sousa, J Cañon, S Dunner, C Ginja, M R Lanari, V Landi, P Sponenberg, J V Delgado
Goats have played a key role as source of nourishment for humans in their expansion all over the world in long land and sea trips. This has guaranteed a place for this species in the important and rapid episode of livestock expansion triggered by Columbus' arrival in the Americas in the late 1400s. The aims of this study are to provide a comprehensive perspective on genetic diversity in American goat populations and to assess their origins and evolutionary trajectories. This was achieved by combining data from autosomal neutral genetic markers obtained in more than two thousand samples that encompass a wide range of Iberian, African and Creole goat breeds...
January 8, 2018: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/29306330/papain-like-cysteine-proteases-in-carica-papaya-lineage-specific-gene-duplication-and-expansion
#17
Juan Liu, Anupma Sharma, Marie Jamille Niewiara, Ratnesh Singh, Ray Ming, Qingyi Yu
BACKGROUND: Papain-like cysteine proteases (PLCPs), a large group of cysteine proteases structurally related to papain, play important roles in plant development, senescence, and defense responses. Papain, the first cysteine protease whose structure was determined by X-ray crystallography, plays a crucial role in protecting papaya from herbivorous insects. Except the four major PLCPs purified and characterized in papaya latex, the rest of the PLCPs in papaya genome are largely unknown...
January 6, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29304377/the-comoros-show-the-earliest-austronesian-gene-flow-into-the-swahili-corridor
#18
Nicolas Brucato, Veronica Fernandes, Stéphane Mazières, Pradiptajati Kusuma, Murray P Cox, Joseph Wainaina Ng'ang'a, Mohammed Omar, Marie-Claude Simeone-Senelle, Coralie Frassati, Farida Alshamali, Bertrand Fin, Anne Boland, Jean-Francois Deleuze, Mark Stoneking, Alexander Adelaar, Alison Crowther, Nicole Boivin, Luisa Pereira, Pascal Bailly, Jacques Chiaroni, François-Xavier Ricaut
At the dawn of the second millennium, the expansion of the Indian Ocean trading network aligned with the emergence of an outward-oriented community along the East African coast to create a cosmopolitan cultural and trading zone known as the Swahili Corridor. On the basis of analyses of new genome-wide genotyping data and uniparental data in 276 individuals from coastal Kenya and the Comoros islands, along with large-scale genetic datasets from the Indian Ocean rim, we reconstruct historical population dynamics to show that the Swahili Corridor is largely an eastern Bantu genetic continuum...
January 4, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29304259/maize-reproductive-development-and-kernel-set-under-limited-plant-growth-environments
#19
Lucas Borrás, Lucas N Vitantonio-Mazzini
Maize grain yield is highly related to the number of kernels that are established during the flowering period. Kernel number depends on the accumulation of ear biomass and the efficiency of using this biomass for kernel set. Ear biomass depends on the rate of plant biomass accumulation and the proportion of this biomass that is allocated to the ear. In contrast to other major crops, the proportion of plant biomass that is allocated to the ear is not constant in maize, being almost zero under stress conditions...
January 3, 2018: Journal of Experimental Botany
https://www.readbyqxmd.com/read/29302199/cell-to-cell-transmission-of-polyglutamine-aggregates-in-c-elegans
#20
Dong-Kyu Kim, Kyu-Won Cho, Woo Jung Ahn, Dayana Perez-Acuña, Hyunsu Jeong, He-Jin Lee, Seung-Jae Lee
Huntington disease (HD) is an inherited neurodegenerative disorder characterized by motor and cognitive dysfunction caused by expansion of polyglutamine (polyQ) repeat in exon 1 of huntingtin (HTT). In patients, the number of glutamine residues in polyQ tracts are over 35, and it is correlated with age of onset, severity, and disease progression. Expansion of polyQ increases the propensity for HTT protein aggregation, process known to be implicated in neurodegeneration. These pathological aggregates can be transmitted from neuron to another neuron, and this process may explain the pathological spreading of polyQ aggregates...
December 2017: Experimental Neurobiology
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