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https://www.readbyqxmd.com/read/28103472/microsatellite-expansion-diseases-repeat-toxicity-found-in-translation
#1
Fen-Biao Gao, Joel D Richter
Sellier et al. (2017) show that translation of expanded CGG repeats in fragile X-associated tremor/ataxia syndrome is initiated at an upstream ACG near-cognate start codon. The resulting polyglycine-containing protein, but not repeat RNA, is pathogenic by disrupting the nuclear lamina.
January 18, 2017: Neuron
https://www.readbyqxmd.com/read/28103454/phenotypic-heterogeneity-by-germline-mismatch-repair-gene-defect-in-lynch-syndrome-patients
#2
Jorge Hernâni-Eusébio, Elisabete Barbosa
INTRODUCTION: Lynch syndrome is the most common form of hereditary colorectal cancer, being also responsible for endometrial and other types of cancers. It is associated with germline mutations in DNA mismatch repair genes and microsatellite instability. MLH1 and MSH2 mutations have a "classical" Lynch syndrome phenotype, with MSH2 having a higher association with extracolonic cancer. MSH6 and PMS2 mutations have an atypical phenotype. Clinical expression is heterogeneous, with correlation between mismatch repair mutated gene and phenotypic patterns...
October 2016: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28102303/panmixia-and-dispersal-from-the-mediterranean-basin-to-macaronesian-islands-of-a-macrolichen-species
#3
David Alors, Francesco Dal Grande, Paloma Cubas, Ana Crespo, Imke Schmitt, M Carmen Molina, Pradeep K Divakar
The Mediterranean region, comprising the Mediterranean Basin and the Macaronesian Islands, represents a center of diversification for many organisms. The genetic structure and connectivity of mainland and island microbial populations has been poorly explored, in particular in the case of symbiotic fungi. Here we investigated genetic diversity and spatial structure of the obligate outcrossing lichen-forming fungus Parmelina carporrhizans in the Mediterranean region. Using eight microsatellite and mating-type markers we showed that fungal populations are highly diverse but lack spatial structure...
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28101934/detection-of-neonatal-unit-clusters-of-candida-parapsilosis-fungaemia-by-microsatellite-genotyping-results-from-laboratory-based-sentinel-surveillance-south-africa-2009-2010
#4
Rindidzani E Magobo, Serisha D Naicker, Jeannette Wadula, Maphoshane Nchabeleng, Yacoob Coovadia, Anwar Hoosen, Shawn R Lockhart, Nelesh P Govender
Neonatal candidaemia is a common, deadly and costly hospital-associated disease. To determine the genetic diversity of Candida parapsilosis causing fungaemia in South African neonatal intensive care units (NICUs). From February 2009 through to August 2010, cases of candidaemia were reported through laboratory-based surveillance. C. parapsilosis isolates from neonatal cases were submitted for identification by internal transcribed spacer (ITS) region sequencing, antifungal susceptibility testing and microsatellite genotyping...
January 19, 2017: Mycoses
https://www.readbyqxmd.com/read/28101896/adaptation-of-genetically-monomorphic-bacteria-evolution-of-copper-resistance-through-multiple-horizontal-gene-transfers-of-complex-and-versatile-mobile-genetic-elements
#5
D Richard, V Ravigné, A Rieux, B Facon, C Boyer, K Boyer, P Grygiel, S Javegny, M Terville, B I Canteros, I Robène, C Vernière, A Chabirand, O Pruvost, P Lefeuvre
Copper-based antimicrobial compounds are widely used to control plant bacterial pathogens. Pathogens have adapted in response to this selective pressure. Xanthomonas citri pv. citri, a major citrus pathogen causing Asiatic citrus canker, was first reported to carry plasmid-encoded copper resistance in Argentina. This phenotype was conferred by the copLAB gene system. The emergence of resistant strains has since been reported in Réunion and Martinique. Using microsatellite-based genotyping and copLAB PCR, we demonstrated that the genetic structure of the copper-resistant strains from these three regions was made up of two distant clusters and varied for the detection of copLAB amplicons...
January 19, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28101439/development-of-highly-variable-microsatellite-markers-for-the-tetraploid-silene-stellata-caryophyllaceae
#6
Juannan Zhou, Michele R Dudash, Charles B Fenster, Elizabeth A Zimmer
PREMISE OF THE STUDY: We designed and tested microsatellite markers for the North American native species Silene stellata (Caryophyllaceae) to investigate its population genetic structure and identify selection on floral design through male reproductive success. METHODS AND RESULTS: A total of 153 candidate microsatellite loci were isolated based on next-generation sequencing. We identified 18 polymorphic microsatellite loci in three populations of S. stellata, with di- or trinucleotide repeats...
December 2016: Applications in Plant Sciences
https://www.readbyqxmd.com/read/28101438/development-and-characterization-of-est-ssr-markers-for-artocarpus-hypargyreus-moraceae
#7
Haijun Liu, Weizheng Tan, Hongbin Sun, Yu Liu, Kaikai Meng, Wenbo Liao
PREMISE OF THE STUDY: Polymorphic microsatellite markers were developed for Artocarpus hypargyreus (Moraceae), a threatened species endemic to China, to investigate the genetic diversity and structure of the species. METHODS AND RESULTS: Based on the transcriptome data of A. hypargyreus, 63 primer pairs were preliminarily designed and tested, of which 34 were successfully amplified and 10 displayed clear polymorphisms across the 67 individuals from four populations of A...
December 2016: Applications in Plant Sciences
https://www.readbyqxmd.com/read/28101437/characterization-of-16-microsatellite-markers-for-the-oreinotinus-clade-of-viburnum-adoxaceae
#8
Syndi Barish, Mónica Arakaki, Erika J Edwards, Michael J Donoghue, Wendy L Clement
PREMISE OF THE STUDY: Microsatellite loci were isolated from four species of Viburnum (Adoxaceae) to study population structure and assess species boundaries among morphologically similar South American Viburnum species of the Oreinotinus clade. METHODS AND RESULTS: Using a microsatellite-enriched library and mining next-generation sequence data, 16 microsatellites were developed. Each locus was tested on two populations of V. triphyllum and one population of V...
December 2016: Applications in Plant Sciences
https://www.readbyqxmd.com/read/28101436/development-and-characterization-of-microsatellite-primers-in-the-endangered-mediterranean-shrub-ziziphus-lotus-rhamnaceae
#9
Ana González-Robles, Antonio J Manzaneda, Jesús M Bastida, Nick Harvey, Rafael Jaime, Teresa Salido, Luisa M Martínez, Ana Fernández-Ocaña, Julio M Alcántara, Pedro J Rey
PREMISE OF THE STUDY: Microsatellite primers were developed to characterize and evaluate patterns of genetic diversity and structure in the endangered Mediterranean shrub Ziziphus lotus (Rhamnaceae). METHODS AND RESULTS: Twenty microsatellite primers were developed for Z. lotus, of which 14 were polymorphic. We evaluated microsatellite polymorphism in 97 specimens from 18 Spanish and seven Moroccan populations. Between two and eight alleles were found per locus, and the average number of alleles was 5...
December 2016: Applications in Plant Sciences
https://www.readbyqxmd.com/read/28101435/microsatellite-markers-for-nuphar-japonica-nymphaeaceae-an-aquatic-plant-in-the-agricultural-ecosystem-of-japan
#10
Toshiaki Kondo, Sonoko Watanabe, Takashi Shiga, Yuji Isagi
PREMISE OF THE STUDY: Nuphar species (Nymphaeaceae) are representative aquatic plants in irrigation ponds in Japanese agricultural ecosystems. We developed 15 polymorphic microsatellite markers for N. japonica and confirmed their utility for its close relatives N. oguraensis var. akiensis and N. ×saijoensis, which originated from natural hybridization between N. japonica and N. oguraensis. METHODS AND RESULTS: Genetic variation was characterized in 15 polymorphic loci in three populations of N...
December 2016: Applications in Plant Sciences
https://www.readbyqxmd.com/read/28101368/polymorphisms-in-the-canine-monoamine-oxidase-a-maoa-gene-identification-and-variation-among-five-broad-dog-breed-groups
#11
James Sacco, Andrew Ruplin, Paul Skonieczny, Michael Ohman
BACKGROUND: In humans, reduced activity of the enzyme monoamine oxidase type A (MAOA) due to genetic polymorphisms within the MAOA gene leads to increased brain neurotransmitter levels associated with aggression. In order to study MAOA genetic diversity in dogs, we designed a preliminary study whose objectives were to identify novel alleles in functionally important regions of the canine MAOA gene, and to investigate whether the frequencies of these polymorphisms varied between five broad breed groups (ancient, herding, mastiff, modern European, and mountain)...
2017: Canine Genetics and Epidemiology
https://www.readbyqxmd.com/read/28101205/impact-of-microsatellite-status-on-chemotherapy-for-colorectal-cancer-patients-with-kras-or-braf-mutation
#12
Chi-Jung Huang, Shih-Hung Huang, Chih-Cheng Chien, Henry Hsin-Chung Lee, Shung-Haur Yang, Chun-Chao Chang, Chia-Long Lee
KRAS and BRAF mutations are frequently detected in cases of colorectal cancer (CRC). The microsatellite status of patients with CRC and mutated KRAS/BRAF is important when determining cancer therapy. In the present study, the microsatellite status and genetic polymorphisms of KRAS (codons 12 and 13) and BRAF (V600E) were characterized in CRC tissue. The mismatch repair activity and oncogenic potential of KRAS were assessed by immunoblots from two KRAS-mutated CRC cell lines, SW480 and HCT116, with different microsatellite statuses, following treatment with 5-fluorouracil (5-FU) and oxaliplatin...
December 2016: Oncology Letters
https://www.readbyqxmd.com/read/28100010/fine-scale-genetic-structure-analyses-reveal-dispersal-patterns-in-a-critically-endangered-primate-trachypithecus-leucocephalus
#13
Weiran Wang, Meng Yao
Dispersal is a critically important life history trait of social organisms that has a major impact on the population genetic structure and social relationships within groups. Primates exhibit highly diversified dispersal and philopatry patterns, but knowledge of these patterns is difficult to obtain and usually limited to observations of a small number of focal social groups or individuals. Here, we investigated the dispersal pattern of a critically endangered colobine monkey, the white-headed langur (Trachypithecus leucocephalus), using molecular approaches, and sex-specific population genetic structure analyses at fine geographical scales...
January 18, 2017: American Journal of Primatology
https://www.readbyqxmd.com/read/28099951/complex-x-chromosomal-rearrangements-in-two-women-with-ovarian-dysfunction-implications-of-chromothripsis-chromoanasynthesis-dependent-and-independent-origins-of-complex-genomic-alterations
#14
Erina Suzuki, Hirohito Shima, Machiko Toki, Kunihiko Hanew, Keiko Matsubara, Hiroki Kurahashi, Satoshi Narumi, Tsutomu Ogata, Tsutomu Kamimaki, Maki Fukami
Our current understanding of the phenotypic consequences and the molecular basis of germline complex chromosomal rearrangements remains fragmentary. Here, we report the clinical and molecular characteristics of 2 women with germline complex X-chromosomal rearrangements. Patient 1 presented with nonsyndromic ovarian dysfunction and hyperthyroidism; patient 2 exhibited various Turner syndrome- associated symptoms including ovarian dysfunction, short stature, and autoimmune hypothyroidism. The genomic abnormalities of the patients were characterized by array-based comparative genomic hybridization, high-resolution karyotyping, microsatellite genotyping, X-inactivation analysis, and bisulfite sequencing...
January 19, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28099933/loss-of-maternal-chromosome-11-is-a-signature-event-in-sdhaf2-sdhd-and-vhl-related-paragangliomas-but-less-significant-in-sdhb-related-paragangliomas
#15
Attje S Hoekstra, Erik F Hensen, Ekaterina S Jordanova, Esther Korpershoek, Anouk Na van der Horst-Schrivers, Cees Cornelisse, Eleonora Pm Corssmit, Frederik J Hes, Jeroen C Jansen, Henricus Pm Kunst, Henri Jlm Timmers, Adrian Bateman, Diana Eccles, Judith Vmg Bovée, Peter Devilee, Jean-Pierre Bayley
Germline mutations in the succinate dehydrogenase (SDHA, SDHB, SDHC, SDHD, SDHAF2) or Von Hippel-Lindau (VHL) genes cause hereditary paraganglioma/pheochromocytoma. While SDHB (1p36) and VHL (3p25) are associated with autosomal dominant disease, SDHD (11q23) and SDHAF2 (11q13) show a remarkable parent-of-origin effect whereby tumor formation is almost completely dependent on paternal transmission of the mutant allele. Loss of the entire maternal copy of chromosome 11 occurs frequently in SDHD-linked tumors, and has been suggested to be the basis for this typical inheritance pattern...
January 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28099779/trapped-within-the-city-integrating-demography-time-since-isolation-and-population-specific-traits-to-assess-the-genetic-effects-of-urbanization
#16
André Lourenço, David Álvarez, Ian J Wang, Guillermo Velo-Antón
Urbanization is a severe form of habitat fragmentation that can cause many species to be locally extirpated and many others to become trapped and isolated within an urban matrix. The role of drift in reducing genetic diversity and increasing genetic differentiation is well recognized in urban populations. However, explicit incorporation and analysis of the demographic and temporal factors promoting drift in urban environments is poorly studied. Here, we genotyped 15 microsatellites in 320 fire salamanders from the historical city of Oviedo (Est...
January 18, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28099770/cryptic-lineages-of-a-common-alpine-mayfly-show-strong-life-history-divergence
#17
Marie Leys, Irene Keller, Christopher T Robinson, Katja Räsänen
Understanding ecological divergence of morphologically similar but genetically distinct species ̶ previously considered as a single morphospecies ̶ is of key importance in evolutionary ecology and conservation biology. Despite their morphological similarity, cryptic species may have evolved distinct adaptations. If such ecological divergence is unaccounted for, any predictions about their responses to environmental change and biodiversity loss may be biased. We used spatio-temporally replicated field surveys of larval cohort structure and population genetic analyses (using nuclear microsatellite markers) to test for life history divergence between two cryptic lineages of the alpine mayfly Baetis alpinus in the Swiss Alps...
January 18, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28097664/testing-mate-choice-and-overdominance-at-mh-in-natural-families-of-atlantic-salmon-salmo-salar
#18
C Tentelier, O Barroso-Gomila, O Lepais, A Manicki, I Romero-Garmendia, B M Jugo
This study aimed to test mate choice and selection during early life stages on major histocompatibility (MH) genotype in natural families of Atlantic salmon Salmo salar spawners and juveniles, using nine microsatellites to reconstruct families, one microsatellite linked to an MH class I gene and one minisatellite linked to an MH class II gene. MH-based mate choice was only detected for the class I locus on the first year, with lower expected heterozygosity in the offspring of actually mated pairs than predicted under random mating...
January 18, 2017: Journal of Fish Biology
https://www.readbyqxmd.com/read/28097170/microsatellite-ssr-amplification-by-pcr-usually-led-to-polymorphic-bands-evidence-which-shows-replication-slippage-occurs-in-extend-or-nascent-dna-strands
#19
Abasalt Hosseinzadeh-Colagar, Mohammad Javad Haghighatnia, Zahra Amiri, Maryam Mohadjerani, Majid Tafrihi
Microsatellites or simple sequence repeats (SSRs) are very effective molecular markers in population genetics, genome mapping, taxonomic study and other large-scale studies. Variation in number of tandem repeats within microsatellite refers to simple sequence length polymorphism (SSLP); but there are a few studies that are showed SSRs replication slippage may be occurred during in vitro amplification which are produced 'stutter products' differing in length from the main products. The purpose of this study is introducing a reliable method to realize SSRs replication slippage...
September 2016: Molecular Biology Research Communications
https://www.readbyqxmd.com/read/28097061/contrasting-molecular-and-morphological-evidence-for-the-identification-of-an-anomalous-buteo-a-cautionary-tale-for-hybrid-diagnosis
#20
William S Clark, Spencer C Galen, Joshua M Hull, Megan A Mayo, Christopher C Witt
An adult Buteo was found dead as a road-kill south of Sacramento, California, and was thought to represent the first state record of the eastern Red-shouldered Hawk (B. lineatus lineatus;). It is now a specimen in the Museum of Wildlife and Fisheries Biology (WFB 4816) at the University of California, Davis. We examined this specimen and found that many of its plumage characters differed from all other adult Red-shouldered Hawks examined, including nominate adults. Plumage markings and measurements were intermediate between Red-tailed Hawk (Buteo jamaicensis, ssp calurus) and Red-shouldered Hawk (ssp elegans), leading us to hypothesize that the bird was a hybrid...
2017: PeerJ
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