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https://www.readbyqxmd.com/read/28643760/validation-of-microsatellite-instability-histology-scores-with-bethesda-guidelines-in-hereditary-nonpolyposis-colorectal-cancer
#1
Mustafa Kaya, Fatih Basak, Abdullah Sisik, Mustafa Hasbahceci, Gurhan Bas, Orhan Alimoglu, Cumhur Selçuk Topal, Gozde Kir
AIMS: Hereditary nonpolyposis colorectal cancer (HNPCC) is a subgroup of colorectal cancer (CRC) which should be differentiated because of the high risk for additional cancers and risk evaluation for other family members, especially for CRC. It is not practical to perform genetic testing for all CRC patients; therefore, various prediction modalities, for example, Bethesda guideline (BG) were studied in the literature. We aimed to assess the association of microsatellite instability (MSI), histology scores, and BG for predicting HNPCC risk...
April 2017: Journal of Cancer Research and Therapeutics
https://www.readbyqxmd.com/read/28643016/screening-for-lynch-syndrome-in-young-saudi-colorectal-cancer-patients-using-microsatellite-instability-testing-and-next-generation-sequencing
#2
Masood Alqahtani, Caitlin Edwards, Natasha Buzzacott, Karen Carpenter, Khalid Alsaleh, Abdulmalik Alsheikh, Waleed Abozeed, Miral Mashhour, Afnan Almousa, Yousef Housawi, Shareefa Al Hawwaj, Barry Iacopetta
Individuals with Lynch syndrome (LS) have germline variants in DNA mismatch repair (MMR) genes that confer a greatly increased risk of colorectal cancer (CRC), often at a young age. Identification of these individuals has been shown to increase their survival through improved surveillance. We previously identified 33 high risk cases for LS in the Saudi population by screening for microsatellite instability (MSI) in the tumor DNA of 284 young CRC patients. The aim of the present study was to identify MMR gene variants in this cohort of patients...
June 22, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28642589/multiple-origins-and-a-narrow-genepool-characterise-the-african-tea-germplasm-concordant-patterns-revealed-by-nuclear-and-plastid-dna-markers
#3
Moses Cheloti Wambulwa, Muditha Kasun Meegahakumbura, Samson Kamunya, Alice Muchugi, Michael Möller, Jie Liu, Jian-Chu Xu, De-Zhu Li, Lian-Ming Gao
Despite the highly economic value of tea in Africa, its genetic and geographic origins remain largely unexplored. Here we address this by collecting 439 samples across 11 countries in Africa and Asia to investigate the origin and genepool composition of African tea based on 23 nuclear microsatellites loci (nSSRs) and three cpDNA intergenic spacer regions. Our results indicated that the African tea represents a potpourri originating from multiple introductions over time. The nSSR analysis revealed that the majority (79%) of tea accessions collected in Africa belong to Indian Assam tea which have likely originated from India and/or Sri Lanka...
June 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28642457/human-mediated-secondary-contact-of-two-tortoise-lineages-results-in-sex-biased-introgression
#4
Eva Graciá, Roberto C Rodríguez-Caro, Ana C Andreu, Uwe Fritz, Andrés Giménez, Francisco Botella
Human-mediated secondary contact of recently diverged taxa offers valuable opportunities for studying the evolutionary mechanisms involved in the establishment and maintenance of genetic boundaries between taxa. We used mitochondrial and microsatellite markers to examine a recently introduced population of the spur-thighed tortoise (Testudo graeca) of mixed origin in the Doñana National Park (SW Spain). The earliest records of tortoises in Doñana trace back to the 18th century, but several population reinforcements in the 20th century with animals from Morocco are well-documented...
June 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28640885/phylogeography-of-a-tough-rock-survivor-in-european-dry-grasslands
#5
Daniela Listl, Peter Poschlod, Christoph Reisch
Phylogeographic analyses of plants in Europe have revealed common glacial refugia and migration routes for several trees and herbs with arctic-alpine distributions. The postglacial histories of dry grassland species in central Europe have rarely been analyzed, even though the extremely species-rich habitat is threatened. Sedum album (Crassulaceae) is a common inhabitant of rocky sites in central European dry grasslands. We inferred the phylogeographic history of S. album over its distribution range in Europe...
2017: PloS One
https://www.readbyqxmd.com/read/28640387/dna-mismatch-repair-deficiency-and-hereditary-syndromes-in-latino-patients-with-colorectal-cancer
#6
Charité N Ricker, Diana L Hanna, Cheng Peng, Nathalie T Nguyen, Mariana C Stern, Stephanie L Schmit, Greg E Idos, Ravi Patel, Steven Tsai, Veronica Ramirez, Sonia Lin, Vinay Shamasunadara, Afsaneh Barzi, Heinz-Josef Lenz, Jane C Figueiredo
BACKGROUND: The landscape of hereditary syndromes and clinicopathologic characteristics among US Latino/Hispanic individuals with colorectal cancer (CRC) remains poorly understood. METHODS: A total of 265 patients with CRC who were enrolled in the Hispanic Colorectal Cancer Study were included in the current study. Information regarding CRC risk factors was elicited through interviews, and treatment and survival data were abstracted from clinical charts. Tumor studies and germline genetic testing results were collected from medical records or performed using standard molecular methods...
June 22, 2017: Cancer
https://www.readbyqxmd.com/read/28640116/distribution-of-somatic-mutations-of-cancer-related-genes-according-to-microsatellite-instability-status-in-korean-gastric-cancer
#7
Joonhong Park, Han Mo Yoo, Woori Jang, Soyoung Shin, Myungshin Kim, Yonggoo Kim, Seung-Woo Lee, Jeong Goo Kim
In studies of the molecular basis of gastric cancer (GC), microsatellite instability (MSI) is one of the key factors. Somatic mutations found in GC are expected to contribute to MSI-high (H) tumorigenesis. We estimated somatic mutation distribution according to MSI status in 52 matched pair GC samples using the Ion Torrent Ion S5 XL with the AmpliSeq Cancer Hotspot panel.Seventy-five (9.8%) somatic variants consisting of 34 hotspot mutations and 41 other likely pathogenic variants were identified in 34 GC samples...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28638980/first-report-of-typical-brazilian-toxoplasma-gondii-genotypes-from-isolates-of-free-range-chickens-gallus-gallus-domesticus-circulating-in-the-state-of-para%C3%A3-ba-northeast-brazil
#8
Thais Ferreira Feitosa, Vinícius Longo Ribeiro Vilela, João Leite de Almeida-Neto, Lídio Ricardo Bezerra de Melo, Dayana Firmino de Morais, Bruna Farias Alves, Fabiana Nakashima, Solange Maria Gennari, Ana Célia Rodrigues Athayde, Hilda Fátima de Jesus Pena
This study evaluated, for the first time, the genetic diversity of Toxoplasma gondii isolates from free-range chickens from the state of Paraíba, Northeast Brazil. Tissue samples from 33 chickens from properties in five municipalities of Paraíba (Esperança, Olho d'Água, Malta, Monteiro, and Patos) were bioassayed in mice. The brains of mice infected with T. gondii cysts were used for DNA extraction and genotyping. Genotyping was performed using 11 PCR-RFLP markers and 15 microsatellite (MS) markers. Complete genotyping results were obtained for 29 isolates, with nine genotypes detected by RFLP and 15 genotypes identified by MS...
June 21, 2017: Parasitology Research
https://www.readbyqxmd.com/read/28637425/the-colonization-and-divergence-patterns-of-brandt-s-vole-lasiopodomys-brandtii-populations-reveal-evidence-of-genetic-surfing
#9
Ke Li, Michael H Kohn, Songmei Zhang, Xinrong Wan, Dazhao Shi, Deng Wang
BACKGROUND: The colonial habit of Brandt's vole (Lasiopodomys brandtii) differs from that of most other species of the genus Microtus. The demographic history of this species and the patterns shaping its current genetic structure remain unknown. Here, we explored patterns of genetic differentiation and infered the demographic history of Brandt's vole populations through analyses of nuclear microsatellite and D-loop sequences. RESULTS: Phylogenetic analyses divided the sampled populations into three main clusters, which represent the southeastern, northeastern and western parts of the total range in Mongolia and China...
June 21, 2017: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/28635966/testing-models-of-refugial-isolation-colonization-and-population-connectivity-in-two-species-of-montane-salamanders
#10
S M Rovito, S D Schoville
Pleistocene glaciations have profoundly affected patterns of genetic diversity within many species. Temperate alpine organisms likely experienced dramatic range shifts, given that much of their habitat was glaciated during this time. While the effects of glaciations are relatively well understood, the spatial locations of refugia and processes that gave rise to current patterns of diversity are less well known. We use a microsatellite data set to test hypotheses of population connectivity and refugial isolation in the web-toed salamanders (Hydromantes) of the Sierra Nevada...
June 21, 2017: Heredity
https://www.readbyqxmd.com/read/28635682/relationship-between-human-mutl-homolog-1-hmlh1-hypermethylation-and-colorectal-cancer-a-meta-analysis
#11
Hui-Feng Zhang, You-Wang Lu, Zhen-Rong Xie, Kun-Hua Wang
BACKGROUND Hypermethylation of CpG islands in gene promoter regions is an important mechanism of gene inactivation in cancers. Promoter hypermethylation of human mutL homolog 1 (hMLH1) has been implicated in a subset of colorectal cancers that show microsatellite instability (MSI), while the connection of the epigenetic inactivation of hMLH1 in colorectal cancers remains unknown. The aim of this study was to evaluate the relationship between the promoter hypermethylation of hMLH1 and colorectal cancers by performing a meta-analysis...
June 21, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28635639/immune-checkpoints-as-a-target-for-colorectal-cancer-treatment
#12
REVIEW
Alessandro Passardi, Matteo Canale, Martina Valgiusti, Paola Ulivi
Anti-tumor immunity is a new line of research for the treatment of patients with solid tumors. In this field, negative regulators of the immune system called immune checkpoints play a key role in limiting antitumor immunologic responses. For this reason, immune checkpoint-inhibiting agents, such as those directed against cytotoxic T-lymphocyte antigen 4 (CTLA-4) and programmed death-1 receptor (PD1) and its ligand PD-L1, have been developed as antitumor drugs, producing interesting results in preclinical and clinical studies...
June 21, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28634825/a-rapid-and-cost-effective-approach-for-the-development-of-polymorphic-microsatellites-in-non-model-species-using-paired-end-rad-sequencing
#13
Dong-Xiu Xue, Yu-Long Li, Jin-Xian Liu
As one of the most informative and versatile DNA-based markers, microsatellites have been widely used in population and conservation genetic studies. However, the development of microsatellites has traditionally been laborious, time-consuming, and expensive. In the present study, a rapid and cost-effective "RAD-seq-Assembly-Microsatellite" approach was developed to identify abundant microsatellite markers in non-model species using the roughskin sculpin Trachidermus fasciatus as a representative. Overlapping paired-end Illumina reads generated by restriction-site-associated DNA sequencing (RAD-seq) were clustered based on the similarity of reads containing the restriction enzyme recognition site and then assembled into contigs, which were used for microsatellite discovery and primer design...
June 20, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/28633358/phylogeography-of-herbarium-specimens-of-asexually-propagated-paper-mulberry-broussonetia-papyrifera-l-l-h%C3%A3-r-ex-vent-moraceae-reveals-genetic-diversity-across-the-pacific
#14
Claudia Payacan, Ximena Moncada, Gloria Rojas, Andrew Clarke, Kuo-Fang Chung, Robin Allaby, Daniela Seelenfreund, Andrea Seelenfreund
Background and Aims: Paper mulberry or Broussonetia papyrifera (L.) L'Hér. ex Vent. (Moraceae) is a dioecious species native to continental South-east Asia and East Asia, including Taiwan, that was introduced to the Pacific by pre-historic voyagers and transported intentionally and propagated asexually across the full range of Austronesian expansion from Taiwan to East Polynesia. The aim of this study was to gain insight into the dispersal of paper mulberry into Oceania through the genetic analysis of herbaria samples which represent a more complete coverage of the historical geographical range of the species in the Pacific before later introductions and local extinctions occurred...
June 14, 2017: Annals of Botany
https://www.readbyqxmd.com/read/28632152/isolation-and-characterization-of-microsatellite-loci-for-cotesia-plutellae-hymenoptera-braconidae
#15
Tiansheng Liu, Fushi Ke, Shijun You, Wenbin Chen, Weiyi He, Minsheng You
Fourteen polymorphic microsatellite loci were isolated in this transcriptome-based data analysis for Cotesia plutellae, which is an important larval parasitoid of the worldwide pest Plutella xylostella. A subsequent test was performed for a wild C. plutellae population (N = 32) from Fuzhou, Fujian, southeastern China, to verify the effectiveness of the 14 microsatellite loci in future studies on C. plutellae genetic diversity. The observed number of alleles ranged from two to six. The expected and observed heterozygosity ranged from 0...
June 20, 2017: Insects
https://www.readbyqxmd.com/read/28631344/evaluation-of-the-genetic-structure-of-sika-deer-cervus-nippon-in-japan-s-kanto-and-tanzawa-mountain-areas-based-on-microsatellite-markers
#16
Sayaka Konishi, Shoko Hata, Sayumi Matsuda, Kazushi Arai, Yasushi Mizoguchi
The browsing habits of sika deer (Cervus nippon) in Japan have caused serious ecological problems. Appropriate management of sika deer populations requires understanding the different genetic structures of local populations. In the present study, we used 10 microsatellite polymorphisms to explore the genetic structures of sika deer populations (162 individuals) living in the Kanto region. The expected heterozygosity of the Tanzawa mountain range population (Group I) was lower than that of the populations in the Kanto mountain areas (Group II)...
June 19, 2017: Animal Science Journal, Nihon Chikusan Gakkaihō
https://www.readbyqxmd.com/read/28630801/characterization-of-the-transcriptome-and-est-ssr-development-in-boea-clarkeana-a-desiccation-tolerant-plant-endemic-to-china
#17
Ying Wang, Kun Liu, De Bi, Shoubiao Zhou, Jianwen Shao
BACKGROUND: Desiccation-tolerant (DT) plants can recover full metabolic competence upon rehydration after losing most of their cellular water (>95%) for extended periods of time. Functional genomic approaches such as transcriptome sequencing can help us understand how DT plants survive and respond to dehydration, which has great significance for plant biology and improving the drought tolerance of crops. Boea clarkeana Hemsl. (Gesneriaceae) is a DT dicotyledonous herb. Its genomic sequences characteristics remain unknown...
2017: PeerJ
https://www.readbyqxmd.com/read/28628639/small-molecule-inhibitors-uncover-synthetic-genetic-interactions-of-human-flap-endonuclease-1-fen1-with-dna-damage-response-genes
#18
Thomas A Ward, Peter J McHugh, Stephen T Durant
Flap endonuclease 1 (FEN1) is a structure selective endonuclease required for proficient DNA replication and the repair of DNA damage. Cellularly active inhibitors of this enzyme have previously been shown to induce a DNA damage response and, ultimately, cell death. High-throughput screens of human cancer cell-lines identify colorectal and gastric cell-lines with microsatellite instability (MSI) as enriched for cellular sensitivity to N-hydroxyurea series inhibitors of FEN1, but not the PARP inhibitor olaparib or other inhibitors of the DNA damage response...
2017: PloS One
https://www.readbyqxmd.com/read/28627509/corrigendum-developing-informative-microsatellite-markers-for-non-model-species-using-reference-mapping-against-a-model-species-genome
#19
Chih-Ming Hung, Ai-Yun Yu, Yu-Ting Lai, Pei-Jen L Shaner
This corrects the article DOI: 10.1038/srep23087.
June 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28626615/getting-off-to-a-good-start-genetic-evaluation-of-the-ex-situ-conservation-project-of-the-critically-endangered-montseny-brook-newt-calotriton-arnoldi
#20
Emilio Valbuena-Ureña, Anna Soler-Membrives, Sebastian Steinfartz, Mònica Alonso, Francesc Carbonell, Raquel Larios-Martín, Elena Obon, Salvador Carranza
Ex situ management strategies play an important role in the conservation of threatened species when the wild survival of the species cannot be ensured. Molecular markers have become an outstanding tool for the evaluation and management of captive breeding programs. Two main genetic objectives should be prioritized when planning breeding programs: the maintenance of maximum neutral genetic diversity, and to obtain "self-sustaining" captive populations. In this study, we use 24 microsatellite loci to analyze and evaluate the genetic representativity of the initial phases of the captive breeding program of the Montseny brook newt, Calotriton arnoldi, an Iberian endemic listed as Critically Endangered...
2017: PeerJ
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