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https://www.readbyqxmd.com/read/27914130/braf-mutated-colorectal-cancer-exhibits-distinct-clinicopathological-features-from-wild-type-braf-expressing-cancer-independent-of-the-microsatellite-instability-status
#1
Min Hye Jang, Sehun Kim, Dae Yong Hwang, Wook Youn Kim, So Dug Lim, Wan Seop Kim, Tea Sook Hwang, Hye Seung Han
In patients with colorectal cancer (CRC), the BRAF V600E mutation has been reported to be associated with several clinicopathological features and poor survival. However, the prognostic implications of BRAF V600E mutation and the associated clinicopathological characteristics in CRCs remain controversial. Therefore, we reviewed various clinicopathological features, including BRAF status, in 349 primary CRCs and analyzed the relationship between BRAF status and various clinicopathological factors, including overall survival...
January 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/27912758/emerging-polymorphisms-in-falciparum-kelch-13-gene-in-northeastern-region-of-india
#2
Neelima Mishra, Ram Suresh Bharti, Prashant Mallick, Om Prakash Singh, Bina Srivastava, Roma Rana, Sobhan Phookan, Hardev Prasad Gupta, Pascal Ringwald, Neena Valecha
BACKGROUND: Recent reports of emergence and spread of artemisinin resistance in the Southeast Asia region, including Myanmar, pose a greater threat to malaria control and elimination in India. Whole genome sequencing studies have associated mutations in the K13 propeller gene (k13), PF3D7_1343700 with artemisinin resistance both in vitro and in vivo. The aim of the present study was to find the k13 gene polymorphisms in Plasmodium falciparum parasites from the three sites in the Northeast region of India, bordering Bangladesh and Myanmar...
December 3, 2016: Malaria Journal
https://www.readbyqxmd.com/read/27911952/high-interannual-variability-in-connectivity-and-genetic-pool-of-a-temperate-clingfish-matches-oceanographic-transport-predictions
#3
Maria Klein, Sara Teixeira, Jorge Assis, Ester A Serrão, Emanuel J Gonçalves, Rita Borges
Adults of most marine benthic and demersal fish are site-attached, with the dispersal of their larval stages ensuring connectivity among populations. In this study we aimed to infer spatial and temporal variation in population connectivity and dispersal of a marine fish species, using genetic tools and comparing these with oceanographic transport. We focused on an intertidal rocky reef fish species, the shore clingfish Lepadogaster lepadogaster, along the southwest Iberian Peninsula, in 2011 and 2012. We predicted high levels of self-recruitment and distinct populations, due to short pelagic larval duration and because all its developmental stages have previously been found near adult habitats...
2016: PloS One
https://www.readbyqxmd.com/read/27911911/genetic-diversity-and-structure-analysis-of-percocypris-pingi-cypriniformes-cyprinidae-implications-for-conservation-and-hatchery-release-in-the-yalong-river
#4
Xiaoyan Li, Yuanping Deng, Kun Yang, Weixiong Gan, Rukui Zeng, Longjun Deng, Zhaobin Song
Percocypris pingi is a near threatened cyprinid species, which has suffered a dramatic decline due to anthropogenic factors. As one response to this decline, hatchery release for P. pingi has been conducted in the lower reaches of the Yalong River since 2012. To understand the conservation status of this species and the potential impact of the release of hatchery-reared fish, we studied the genetic diversity and population structure of wild and hatchery populations of P. pingi. Two hatchery populations (Jinping [JPH] and Ya'an [YAH]) and two wild populations (Muli [MLW] and Woluo [WLW]) of P...
2016: PloS One
https://www.readbyqxmd.com/read/27910885/bonobo-personality-traits-are-heritable-and-associated-with-vasopressin-receptor-gene-1a-variation
#5
Nicky Staes, Alexander Weiss, Philippe Helsen, Marisa Korody, Marcel Eens, Jeroen M G Stevens
Despite being closely related, bonobos and chimpanzees show remarkable behavioral differences, the proximate origins of which remain unknown. This study examined the link between behavioral variation and variation in the vasopressin 1a receptor gene (Avpr1a) in bonobos. Chimpanzees are polymorphic for a ~360 bp deletion (DupB), which includes a microsatellite (RS3) in the 5' promoter region of Avpr1a. In chimpanzees, the DupB deletion has been linked to lower sociability, lower social sensitivity, and higher anxiety...
December 2, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27910066/traditional-approaches-to-molecular-genetic-analysis
#6
Christopher J Walker, Paul J Goodfellow
Molecular studies of endometrial cancer have evolved with the tools available to researchers: the methods for measuring nucleic acids, protein expression, and combinations thereof. Today "molecular genetic analysis" implies a broad range of indirect and direct tests that yield molecular phenotypes or genotypes, immunotypes, or signatures that were not conceived of when the histologic and biologic heterogeneity was first fully acknowledged.We will provide a historical perspective on molecular genetic studies of endometrial cancers focusing on candidate genes and how early foundational research shaped both our understanding of the disease and current research directions...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27910065/pathology-of-endometrial-carcinoma
#7
Sigurd F Lax
On a clinicopathological and molecular level, two distinctive types of endometrial carcinoma, type I and type II, can be distinguished. Endometrioid carcinoma, the typical type I carcinoma, seems to develop through an estrogen-driven "adenoma carcinoma" pathway from atypical endometrial hyperplasia/endometrioid intraepithelial neoplasia (AEH/EIN). It is associated with elevated serum estrogen and high body mass index and expresses estrogen and progesterone receptors. They are mostly low grade and show a favorable prognosis...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27909816/ecological-and-physical-barriers-shape-genetic-structure-of-the-alpine-porcini-boletus-reticuloceps
#8
Bang Feng, Jian Wei Liu, Jianping Xu, Kuan Zhao, Zai Wei Ge, Zhu L Yang
The Alpine porcini, Boletus reticuloceps, is an ectomycorrhizal mushroom distributed in subalpine areas of Southwest China, central China, and Taiwan Island. This distribution pattern makes it an ideal organism to infer how ectomycorrhizal fungi have reacted to historical tectonic and climatic changes, and to illustrate the mechanism for the disjunction of organisms between Southwest China and Taiwan. In this study, we explored the phylogeographic pattern of B. reticuloceps by microsatellite genotyping, DNA sequencing, ecological factor analysis, and species distribution modeling...
December 1, 2016: Mycorrhiza
https://www.readbyqxmd.com/read/27909454/linkage-and-association-analyses-of-schizophrenia-with-genetic-variations-on-chromosome-22q11-in-koreans
#9
Se Chang Yoon, Yong Lee Jang, Jong-Won Kim, Eun-Young Cho, Dong Yeon Park, Kyung Sue Hong, Yu Sang Lee
OBJECTIVE: Chromosome 22q11 has been implicated as a susceptibility locus of schizophrenia. It also contains various candidate genes for which evidence of association with schizophrenia has been reported. To determine whether genetic variations in chromosome 22q11 are associated with schizophrenia in Koreans, we performed a linkage analysis and case-control association study. METHODS: Three microsatellite markers within a region of 4.35 Mb on 22q11 were genotyped for 47 multiplex schizophrenia families, and a non-parametric linkage analysis was applied...
November 2016: Psychiatry Investigation
https://www.readbyqxmd.com/read/27907100/patterns-of-fish-connectivity-between-a-marine-protected-area-and-surrounding-fished-areas
#10
Rita Sahyoun, Paolo Guidetti, Antonio Di Franco, Serge Planes
Patterns of connectivity and self-recruitment are recognized as key factors shaping the dynamics of marine populations. Connectivity is also essential for maintaining and restoring natural ecological processes with genetic diversity contributing to the adaptation and persistence of any species in the face of global disturbances. Estimates of connectivity are crucial to inform the design of both marine protected areas (MPAs) and MPA networks. Among several approaches, genetic structure is frequently used as a proxy for patterns of connectivity...
2016: PloS One
https://www.readbyqxmd.com/read/27907032/genetic-structure-in-the-northern-range-margins-of-common-ash-fraxinus-excelsior-l
#11
Mari Mette Tollefsrud, Tor Myking, Jørn Henrik Sønstebø, Vaidotas Lygis, Ari Mikko Hietala, Myriam Heuertz
During post glacial colonization, loss of genetic diversity due to leading edge effects may be attenuated in forest trees because of their prolonged juvenile phase, allowing many migrants to reach the colonizing front before populations become reproductive. The northern range margins of temperate tree taxa in Europe are particularly suitable to study the genetic processes that follow colonization because they have been little affected by northern refugia. Here we examined how post glacial range dynamics have shaped the genetic structure of common ash (Fraxinus excelsior L...
2016: PloS One
https://www.readbyqxmd.com/read/27905665/multiple-paternity-in-a-wild-population-of-armadillidium-vulgare-influence-of-infection-with-wolbachia
#12
V Valette, S Durand, N Bech, F Grandjean, S Beltran-Bech
Female multiple mating has been extensively studied to understand how nonobvious benefits, generally thought to be of genetic nature, could overcome heavy costs such as an increased risk of infection during mating. However, the impact of infection itself on multiple mating has rarely been addressed. The interaction between the bacterium Wolbachia and its terrestrial crustacean host, Armadillidium vulgare, is a relevant model to investigate this question. In this association, Wolbachia is able to turn genetic males into functional females (i...
November 4, 2016: Journal of Evolutionary Biology
https://www.readbyqxmd.com/read/27905471/evidence-of-genotypic-adaptation-to-the-exposure-to-volcanic-risk-at-the-dopamine-receptor-drd4-locus
#13
Charlotte Faurie, Clement Mettling, Mohamed Ali Bchir, Danang Sri Hadmoko, Carine Heitz, Evi Dwi Lestari, Michel Raymond, Marc Willinger
Humans have colonized and adapted to extremely diverse environments, and the genetic basis of some such adaptations, for example to high altitude, is understood. In some cases, local or regional variation in selection pressure could also cause behavioural adaptations. Numerous genes influence behaviour, such as alleles at the dopamine receptor locus D4 (DRD4), which are associated with attitude toward risk in experimental settings. We demonstrate genetic differentiation for this gene, but not for five unlinked microsatellite loci, between high- and low risk environments around Mount Merapi, an active volcano in Java, Indonesia...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27905141/first-case-of-sterility-associated-with-sex-chromosomal-abnormalities-in-a-jenny
#14
J Dorado, G Anaya, M Bugno-Poniewierska, A Molina, A Mendez-Sanchez, I Ortiz, M Moreno-Millán, M Hidalgo, P Peral García, S Demyda-Peyrás
Chromosomal abnormalities are one of the main causes of genetic infertility in horses. Currently, their detection rate is rising due to the use of new diagnostic tools employing molecular markers linked to the sex chromosome pair. Despite genetic similarities, there are no previous reports of sterility associated with chromosomal abnormalities in the domestic donkey (Equus asinus). Hereby, we determined the presence of a chromosomal mosaicism in a female donkey with reproductive problems using molecular methodologies developed for horses...
December 1, 2016: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/27904978/development-and-characterization-of-twelve-microsatellite-markers-for-porphyra-linearis-greville
#15
Elena Varela-Álvarez, Cristina Paulino, Ester A Serrão
The genus Porphyra (and its sister genus Pyropia) contains important red algal species that are cultivated and/or harvested for human consumption, sustaining a billion-dollar aquaculture industry. A vast amount of research has been focused on species of this genus, including studies on genetics and genomics among other areas. Twelve novel microsatellite markers were developed here for Porphyra linearis. Markers were characterized using 32 individuals collected from four natural populations of P. linearis with total heterozygosity varying from 0...
November 30, 2016: Genetica
https://www.readbyqxmd.com/read/27903261/discrete-phenotypes-are-not-underpinned-by-genome-wide-genetic-differentiation-in-the-squat-lobster-munida-gregaria-crustacea-decapoda-munididae-a-multi-marker-study-covering-the-patagonian-shelf
#16
Chen Wang, Shobhit Agrawal, Jürgen Laudien, Vreni Häussermann, Christoph Held
BACKGROUND: DNA barcoding has demonstrated that many discrete phenotypes are in fact genetically distinct (pseudo)cryptic species. Genetically identical, isogenic individuals, however, can also express similarly different phenotypes in response to a trigger condition, e.g. in the environment. This alternative explanation to cryptic speciation often remains untested because it requires considerable effort to reject the hypothesis that the observed underlying genetic homogeneity of the different phenotypes may be trivially caused by too slowly evolving molecular markers...
December 1, 2016: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/27902704/methylation-of-breast-cancer-predisposition-genes-in-early-onset-breast-cancer-australian-breast-cancer-family-registry
#17
Cameron M Scott, JiHoon Eric Joo, Neil O'Callaghan, Daniel D Buchanan, Mark Clendenning, Graham G Giles, John L Hopper, Ee Ming Wong, Melissa C Southey
DNA methylation can mimic the effects of both germline and somatic mutations for cancer predisposition genes such as BRCA1 and p16INK4a. Constitutional DNA methylation of the BRCA1 promoter has been well described and is associated with an increased risk of early-onset breast cancers that have BRCA1-mutation associated histological features. The role of methylation in the context of other breast cancer predisposition genes has been less well studied and often with conflicting or ambiguous outcomes. We examined the role of methylation in known breast cancer susceptibility genes in breast cancer predisposition and tumor development...
2016: PloS One
https://www.readbyqxmd.com/read/27899194/strategies-for-clinical-implementation-of-screening-for-hereditary-cancer-syndromes
#18
REVIEW
Brandie Heald, Jessica Marquard, Pauline Funchain
Hereditary cancer syndromes generally account for 5%-10% of malignancies. While these syndromes are rare, affected patients carry significantly elevated risks of developing cancer, as do their at-risk relatives. Identification of these patients is critical to ensure timely and appropriate genetic testing relevant to cancer patients and their relatives. Several guidelines and tools are available to assist clinicians. Patients suspected to have hereditary cancer syndromes should be offered genetic testing in the setting of genetic counseling by a qualified genetics professional...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27898962/genetic-variation-and-differentiation-in-parent-descendant-cattle-and-bison-populations
#19
M A Cronin, V L R Leesburg
Genetic variation and differentiation at 32 microsatellite loci was quantified for parent-descendant cattle populations and parent-descendant bison () populations. We compared heterozygosity () and allelic richness () for 587 cattle of four breeds and three lines derived from them, and 188 bison in three pairs of parent-descendant populations. and were less in the Line 1 Hereford inbred cattle population than in the parent Hereford breed. and were intermediate in a composite population (CGC, derived from crossing Red Angus, Charolais, and Tarentaise) compared to the three parent breeds...
November 2016: Journal of Animal Science
https://www.readbyqxmd.com/read/27898704/genetic-structure-and-potential-environmental-determinants-of-local-genetic-diversity-in-japanese-honeybees-apis-cerana-japonica
#20
Teruyoshi Nagamitsu, Mika Yasuda, Fuki Saito-Morooka, Maki N Inoue, Mio Nishiyama, Koichi Goka, Shinji Sugiura, Kaoru Maeto, Kimiko Okabe, Hisatomo Taki
Declines in honeybee populations have been a recent concern. Although causes of the declines remain unclear, environmental factors may be responsible. We focused on the potential environmental determinants of local populations of wild honeybees, Apis cerana japonica, in Japan. This subspecies has little genetic variation in terms of its mitochondrial DNA sequences, and genetic variations at nuclear loci are as yet unknown. We estimated the genetic structure and environmental determinants of local genetic diversity in nuclear microsatellite genotypes of fathers and mothers, inferred from workers collected at 139 sites...
2016: PloS One
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