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https://www.readbyqxmd.com/read/29334207/screening-for-causative-mutations-of-major-prolificacy-genes-in-iranian-fat-tailed-sheep
#1
Ramin Abdoli, Seyed Ziaeddin Mirhoseini, Navid Ghavi Hossein-Zadeh, Pouya Zamani
Background: The presence of different missense mutations in sheep breeds have shown that the bone morphogenetic protein receptor 1B (BMPR1B), bone morphogenetic protein 15 (BMP15) and growth differentiation factor 9 (GDF9) genes play a vital role in ovulation rate and prolificacy in ewes. Therefore, the present study aims to investigate BMPR1B, BMP15 and GDF9 gene mutations in prolific ewes of Iranian fat-tailed Lori-Bakhtiari sheep. MATERIALS AND METHODS: In the present experimental study, genomic DNA was extracted from whole blood of 10 prolific Lori-Bakhtiari ewes with at least two twinning records in the first four parities to identify point mutations of the BMPR1B, BMP15 and GDF9 genes, using DNA sequencing...
April 2018: International Journal of Fertility & Sterility
https://www.readbyqxmd.com/read/29330299/effects-of-allelic-variations-in-the-human-myxovirus-resistance-protein-a-on-its-antiviral-activity
#2
Laura Graf, Alexej Dick, Franziska Sendker, Emanuel Barth, Manja Marz, Oliver Daumke, Georg Kochs
Only a minority of patients infected with seasonal influenza A viruses exhibits a severe or fatal outcome of infection, but the reasons for this inter-individual variability in influenza susceptibility are unclear. To gain further insights into the molecular mechanisms underlying this variability, we investigated naturally occurring allelic variations of the myxovirus resistance 1 (MX1) gene coding for the influenza restriction factor MxA. The interferon-induced dynamin-like GTPase consists of an N-terminal GTPase domain, a bundle signaling element, and a C-terminal stalk responsible for oligomerization and viral target recognition...
January 12, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29325573/genetic-diversity-of-three-surface-protein-genes-in-plasmodium-malariae-from-three-asian-countries
#3
Suttipat Srisutham, Naowarat Saralamba, Kanlaya Sriprawat, Mayfong Mayxay, Frank Smithuis, Francois Nosten, Sasithon Pukrittayakamee, Nicholas P J Day, Arjen M Dondorp, Mallika Imwong
BACKGROUND: Genetic diversity of the three important antigenic proteins, namely thrombospondin-related anonymous protein (TRAP), apical membrane antigen 1 (AMA1), and 6-cysteine protein (P48/45), all of which are found in various developmental stages of Plasmodium parasites is crucial for targeted vaccine development. While studies related to the genetic diversity of these proteins are available for Plasmodium falciparum and Plasmodium vivax, barely enough information exists regarding Plasmodium malariae...
January 11, 2018: Malaria Journal
https://www.readbyqxmd.com/read/29291218/complete-genome-sequencing-of-cucumber-mosaic-virus-from-black-pepper-revealed-rare-deletion-in-the-methyltransferase-domain-of-1a-gene
#4
K A Revathy, A I Bhat
The complete genome of cucumber mosaic virus (CMV) from black pepper was sequenced and compared with CMV isolates from subgroups I and II reported worldwide. Percent identity and phylogenetic analyses clearly indicated that the CMV isolate from black pepper (BP) belongs to subgroup IB. Sequence analyses also showed the presence of a rare deletion of nine nucleotides in the putative methyltransferase domain of 1a gene which was observed only in two more isolates of CMV among one hundred 1a gene sequences of CMV for which sequence information is available in the database...
September 2017: Virusdisease
https://www.readbyqxmd.com/read/29283376/differential-selective-pressures-experienced-by-the-aurora-kinase-gene-family
#5
Joni M Seeling, Alexis A Farmer, Adam Mansfield, Hyuk Cho, Madhusudan Choudhary
Aurora kinases (AKs) are serine/threonine kinases that are essential for cell division. Humans have three AK genes: AKA, AKB, and AKC. AKA is required for centrosome assembly, centrosome separation, and bipolar spindle assembly, and its mutation leads to abnormal spindle morphology. AKB is required for the spindle checkpoint and proper cytokinesis, and mutations cause chromosome misalignment and cytokinesis failure. AKC is expressed in germ cells, and has a role in meiosis analogous to that of AKB in mitosis...
December 28, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29283210/ube2a-deficiency-in-two-siblings-a-novel-splicing-variant-inherited-from-a-maternal-germline-mosaicism
#6
Teresa Giugliano, Claudia Santoro, Annalaura Torella, Francesca Del Vecchio Blanco, Pia Bernardo, Vincenzo Nigro, Giulio Piluso
UBE2A deficiency is a syndromic condition of X-linked intellectual disability (ID) characterized by typical dysmorphic features that include synophrys, prominent supraorbital ridges, almond-shaped, and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, micropenis, and onychodystrophy. To date, only seven familial UBE2A intragenic mutations and nine larger microdeletions encompassing UBE2A have been reported. Here, we describe two siblings with X-linked ID and typical clinical features of UBE2A deficiency caused by a novel hemizygous variant, identified by massively parallel sequencing of X-exome...
December 28, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29282103/within-host-evolution-of-enterococcus-faecium-during-longitudinal-carriage-and-transition-to-bloodstream-infection-in-immunocompromised-patients
#7
Danesh Moradigaravand, Theodore Gouliouris, Beth Blane, Plamena Naydenova, Catherine Ludden, Charles Crawley, Nicholas M Brown, M Estée Török, Julian Parkhill, Sharon J Peacock
BACKGROUND: Enterococcus faecium is a leading cause of hospital-acquired infection, particularly in the immunocompromised. Here, we use whole genome sequencing of E. faecium to study within-host evolution and the transition from gut carriage to invasive disease. METHODS: We isolated and sequenced 180 E. faecium from four immunocompromised patients who developed bloodstream infection during longitudinal surveillance of E. faecium in stool and their immediate environment...
December 27, 2017: Genome Medicine
https://www.readbyqxmd.com/read/29278416/molecular-phylogeny-systematics-and-revision-of-the-type-species-of-lobomonas-l-francei-volvocales-chlorophyta-and-closely-related-taxa
#8
Nicole Sausen, Veronica Malavasi, Michael Melkonian
In the present study, three new strains of the rare volvocalean green alga Lobomonas were isolated from field-collected samples, one from Sardinia (Italy) and two from Argentina and comparatively studied. The Sardinian and one of the Argentinian strains were identified as Lobomonas francei, the type species of the genus, while the second Argentinian strain corresponded to L. panduriformis. Two additional nominal species of Lobomonas from culture collections (L. rostrata and L. sphaerica) were included in the analysis and shown to be morphologically and molecularly identical to the L...
December 26, 2017: Journal of Phycology
https://www.readbyqxmd.com/read/29277692/characterisation-of-signalling-and-regulation-of-common-calcitonin-receptor-splice-variants-and-polymorphisms
#9
Emma Dal Maso, Rasmus Just, Caroline Hick, Arthur Christopoulos, Patrick M Sexton, Denise Wootten, Sebastian G B Furness
The calcitonin receptor (CTR) is a class B G protein-coupled receptor that is a therapeutic target for the treatment of hypercalcaemia of malignancy, Paget's disease and osteoporosis. In primates, the CTR is subject to alternative splicing, with a unique, primate-specific splice variant being preferentially expressed in reproductive organs, lung and kidney. In addition, humans possess a common non-synonymous single-nucleotide polymorphism (SNP) encoding a proline/leucine substitution in the C-terminal tail...
December 22, 2017: Biochemical Pharmacology
https://www.readbyqxmd.com/read/29274536/are-there-fitness-costs-of-adaptive-pyrethroid-resistance-in-the-amphipod-hyalella-azteca
#10
Jennifer R Heim, Donald P Weston, Kaley Major, Helen Poynton, Kara E Huff Hartz, Michael J Lydy
Pyrethroid-resistant Hyalella azteca with voltage-gated sodium channel mutations have been identified at multiple locations throughout California. In December 2013, H. azteca were collected from Mosher Slough in Stockton, CA, USA, a site with reported pyrethroid (primarily bifenthrin and cyfluthrin) sediment concentrations approximately twice the 10-d LC50 for laboratory-cultured H. azteca. These H. azteca were shipped to Southern Illinois University Carbondale and have been maintained in pyrethroid-free culture since collection...
December 20, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/29274514/distribution-of-single-nucleotide-polymorphisms-and-protein-domain-architecture-of-toll-like-receptor-2-in-pahari-cattle-indian-non-descript-indigenous-breed
#11
Verma Subhash, Sodhi Monika, Salwan Richa, Shekhar Chander, Singh Geetanjali, Sharma Mandeep
Distribution of polymorphism in TLR2 gene was studied in Pahari (Indian non-descript indigenous breed) cattle of Himachal Pradesh. The complete sequence of TLR2 gene consisted of 136bp 5'-UTR, 2355bp CDS and 1316bp 3'UTR. The phylogenetic analysis revealed clustering of Indian Zebu with Bos taurus as the nearest neighbour. The nucleotide sequences of TLR2 revealed the occurrence of 19 SNPs including 47% non-synonymous and 53% synonymous SNPs within TLR domain among all bovines. The dS/dN ratio (ω)<1 at polymorphic sites revealed purifying selection and thus, indicating the presence of highly conserved domains...
December 15, 2017: Research in Veterinary Science
https://www.readbyqxmd.com/read/29274186/slow-evolution-of-sex-biased-genes-in-the-reproductive-tissue-of-the-dioecious-plant-salix-viminalis
#12
Iulia Darolti, Alison E Wright, Pascal Pucholt, Sofia Berlin, Judith E Mank
The relative rate of evolution for sex-biased genes has often been used as a measure of the strength of sex-specific selection. In contrast to studies in a wide variety of animals, far less is known about the molecular evolution of sex-biased genes in plants, particularly in dioecious angiosperms. Here, we investigate the gene expression patterns and evolution of sex-biased genes in the dioecious plant Salix viminalis. We observe lower rates of sequence evolution for male-biased genes expressed in the reproductive tissue compared to unbiased and female-biased genes...
December 23, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/29273445/selective-pressure-on-the-protein-coding-genes-of-the-pufferfish-is-correlated-with-phenotypic-traits
#13
Hyeonju Ahn, Chul Lee, Bo-Hye Nam, Eun Bae Kim, Kelsey Caetano-Anolles, Heebal Kim
The pufferfish accumulates neurotoxic tetrodotoxin in its body and inflates by filling its stomach with water. These traits are unique to this species, and may be a result of adaptation post-divergence of Tetraodontidae. However, evolution of the protein-coding genes in the pufferfish has not yet been well elucidated. Detection of positive selection on these genes can help us understand the mechanisms associated with functional evolution. We downloaded well-annotated gene information of two pufferfish species, Takifugu rubripes and Tetraodon nigroviridis, from the public ENSEMBL database...
December 19, 2017: Marine Genomics
https://www.readbyqxmd.com/read/29259316/correction-of-a-disease-mutation-using-crispr-cas9-assisted-genome-editing-in-japanese-black-cattle
#14
Mitsumi Ikeda, Shuichi Matsuyama, Satoshi Akagi, Katsuhiro Ohkoshi, Sho Nakamura, Shiori Minabe, Koji Kimura, Misa Hosoe
Isoleucyl-tRNA synthetase (IARS) syndrome is a recessive disease of Japanese Black cattle caused by a single nucleotide substitution. To repair the mutated IARS gene, we designed clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) to create a double-strand break near the mutation site. CRISPR/Cas9 and donor DNA that contained a synonymous codon for the correct amino acid and an Aequorea coerulescens Green Fluorescent Protein (AcGFP) cassette with a piggyBac transposase recognition site at both ends were introduced into bovine fetal fibroblast (BFF) cells isolated from a homozygous mutant calf...
December 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29220511/unbiased-estimate-of-synonymous-and-non-synonymous-substitution-rates-with-non-stationary-base-composition
#15
Laurent Guéeguen, Laurent Duret
The measurement of synonymous and non-synonymous substitution rates (dS and dN) is useful for assessing selection operating on protein sequences or for investigating mutational processes affecting genomes. In particular, the ratio dNdS is expected to be a good proxy for ω, the ratio of fixation robabilities of non-synonymous mutations relative to that of neutral mutations. Standard methods for estimating dN, dS or ω rely on the assumption that the base composition of sequences is at the equilibrium of the evolutionary process...
December 6, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/29220486/transcriptome-signatures-of-selection-drift-introgression-and-gene-duplication-in-the-evolution-of-an-extremophile-endemic-plant
#16
Angela K Hawkins, Elyssa R Garza, Valerie A Dietz, Oscar J Hernandez, W Daryl Hawkins, A Millie Burrell, Alan E Pepper
Plants on serpentine soils provide extreme examples of adaptation to environment, and thus offer excellent models for the study of evolution at the molecular and genomic level. Serpentine outcrops are derived from ultramafic rock and have extremely low levels of essential plant nutrients (e.g. N, P, K, Ca), as well as toxic levels of heavy metals (e.g. Ni, Cr, Co) and low moisture availability. These outcrops provide habitat to a number of endemic plant species, including the annual mustard Caulanthus amplexicaulis var...
December 6, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/29214630/a-del-phenotype-attributed-to-rhd-exon-9-sequence-deletion-slipped-strand-mispairing-and-blood-group-polymorphisms
#17
Genghis H Lopez, Robyn M Turner, Eunike C McGowan, Elizna M Schoeman, Stacy A Scott, Helen O'Brien, Glenda M Millard, Eileen V Roulis, Amanda J Allen, Yew-Wah Liew, Robert L Flower, Catherine A Hyland
BACKGROUND: The RhD blood group antigen is extremely polymorphic and the DEL phenotype represents one such class of polymorphisms. The DEL phenotype prevalent in East Asian populations arises from a synonymous substitution defined as RHD*1227A. However, initially, based on genomic and cDNA studies, the genetic basis for a DEL phenotype in Taiwan was attributed to a deletion of RHD Exon 9 that was never verified at the genomic level by any other independent group. Here we investigate the genetic basis for a Caucasian donor with a DEL partial D phenotype and compare the genomic findings to those initial molecular studies...
December 6, 2017: Transfusion
https://www.readbyqxmd.com/read/29208649/whole-genome-sequencing-of-hulunbuir-short-tailed-sheep-for-identifying-candidate-genes-related-to-the-short-tail-phenotype
#18
Dafu Zhi, Lai Da, Moning Liu, Chen Cheng, Yukun Zhang, Xin Wang, Xiunan Li, Zhipeng Tian, Yanyan Yang, Tingyi He, Xin Long, Wei Wei, Guifang Cao
The Hulunbuir short-tailed sheep (Ovis aries) is a breed native to China, in which the short-tail phenotype is the result of artificial and natural selection favoring a specific set of genetic mutations. Here, we analyzed the genetic differences between short-tail and normal-tail phenotypes at the genomic level. Selection signals were identified in genome-wide sequences. From 16 sheep, we identified 72,101,346 single nucleotide polymorphisms. Selection signals were detected based on the fixation index and heterozygosity...
December 5, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29206198/genome-wide-comprehensive-analysis-the-molecular-phylogenetic-evaluation-and-tissue-specific-expression-of-sabath-gene-family-in-salvia-miltiorrhiza
#19
Bin Wang, Shiqiang Wang, Zhezhi Wang
The plant SABATH gene family is a group of O-methyltransferases (O-MTs), which belongs to the S-adenosyl-l-methionine-dependent methyltransferases (SAM-MTs). The resulting reaction products of SABATH genes play an important role in various processes of plant development. In this study, a total of 30 SABATH genes were detected in Salvia miltiorrhiza, which is an important medicinal plant, widely used to treat cardiovascular disease. Multiple sequence alignment and phylogenetic analyses showed that SmSABATH genes could be classified into three groups...
December 5, 2017: Genes
https://www.readbyqxmd.com/read/29203331/a-crucial-role-of-paralogous-%C3%AE-defensin-genes-in-the-chinese-alligator-innate-immune-system-revealed-by-the-first-determination-of-a-crocodilia-defensin-cluster
#20
Ke-Yi Tang, Xin Wang, Qiu-Hong Wan, Sheng-Guo Fang
The β-defensin, one of the antimicrobial peptides (AMPs), is a significant component of the innate immune with a broad range of antimicrobial activities. Differing from the widely-studied mammals and birds, limited information about β-defensins has been reported in reptiles, especially in crocodilians. As a same ancient species as dinosaurs and the most endangered species of 23 crocodilians, the survival of Chinese alligator (Alligator sinensis) means a powerful immune system and possible involvement of AMPs in its immune resistance...
December 1, 2017: Developmental and Comparative Immunology
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