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Mell Blair B Department of Physiology and Pharmacology, Center for Hypertension and Personalized Medicine, Program in Physiological Genomics, University of Toledo College of Medicine and Life Sciences, Toledo, OH, - - 2014
Genetic dissection of blood pressure (BP) quantitative trait loci (QTLs) in rats has facilitated the fine-mapping of regions linked to the inheritance of hypertension. The goal of the current study was to further fine-map one such genomic region on rat chromosome 1 (BPQTL1b1), the homologous region of which on human ...
Carbone Lucia L 1] Oregon Health &Science University, Department of Behavioral Neuroscience, 3181 SW Sam Jackson Park Road Portland, Oregon 97239, USA. [2] Oregon National Primate Research Center, Division of Neuroscience, 505 NW 185th Avenue, Beaverton, Oregon 97006, USA. [3] Oregon Health &Science University, Department of Molecular &Medical Genetics, 3181 SW Sam Jackson Park Road, Portland, Oregon 97239, USA. [4] Oregon Health &Science University, Bioinformatics and Computational Biology Division, Department of Medical Informatics &Clinical Epidemiology, 3181 SW Sam Jackson Park Road, Portland, Oregon 97239, - - 2014
Gibbons are small arboreal apes that display an accelerated rate of evolutionary chromosomal rearrangement and occupy a key node in the primate phylogeny between Old World monkeys and great apes. Here we present the assembly and analysis of a northern white-cheeked gibbon (Nomascus leucogenys) genome. We describe the propensity for ...
Liu Wing-Yee WY Department of Plant Science, Plant Genomics and Breeding Institute and Research Institute for Agriculture and Life Sciences, Seoul National University, 1 Gwanak-ro Gwank-gu, 151-921, Seoul, Republic of - - 2014
Bulked segregant analysis (BSA) using Affymetrix GeneChips revealed candidate genes underlying the major QTL for Phytophthora capsici resistance in Capsicum . Using the candidate genes, reliable markers for Phytophthora resistance were developed and validated. Phytophthora capsici L. is one of the most destructive pathogens of pepper (Capsicum spp.). Resistance of ...
Chapman Andrew G - - 2014
BackgroundX-chromosome inactivation silences one X chromosome in females to achieve dosage compensation with the single X chromosome in males. While most genes are silenced on the inactive X chromosome, the gene for the long non-coding RNA XIST is silenced on the active X chromosome and expressed from the inactive X ...
Zhou Huanbin H Department of Genetics, Development and Cell Biology, Iowa State University, Ames, IA 50011, - - 2014
The Cas9/sgRNA of the CRISPR/Cas system has emerged as a robust technology for targeted gene editing in various organisms, including plants, where Cas9/sgRNA-mediated small deletions/insertions at single cleavage sites have been reported in transient and stable transformations, although genetic transmission of edits has been reported only in Arabidopsis and rice. ...
Aubry Marie-Christine MC Departments of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, - - 2014
The TP63 gene encodes a member of the p53 family of transcription factors. Although TP53 is a well-known tumor suppressor gene, the role of p63 in tumorigenesis is controversial. Our group recently identified novel chromosomal rearrangements involving TP63 in approximately 6% of peripheral T-cell lymphomas, which correlated with a p63+/p40- ...
Khazaei Hamid H Department of Agricultural Sciences, University of Helsinki, P O Box 27 (Latokartanonkaari 5), 00014, Helsinki, Finland, - - 2014
We have identified QTLs for stomatal characteristics on chromosome II of faba bean by applying SNPs derived from M. truncatula , and have identified candidate genes within these QTLs using synteny between the two species. Faba bean (Vicia faba L.) is a valuable food and feed crop worldwide, but drought ...
Picq Sandrine - - 2014
BackgroundIn Vitis vinifera L., domestication induced a dramatic change in flower morphology: the wild sylvestris subspecies is dioecious while hermaphroditism is largely predominant in the domesticated subsp. V. v. vinifera. The characterisation of polymorphisms in genes underlying the sex-determining chromosomal region may help clarify the history of domestication in grapevine ...
Hysi Pirro G PG 1] Department of Twin Research and Genetic Epidemiology, King's College London, London, UK. - - 2014
Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We ...
Rovatsos Michail M Charles University in - - 2014
The green anole, Anolis carolinensis (ACA), is the model reptile for a vast array of biological disciplines. It was the first non-avian reptile to have its genome fully sequenced. During the genome project, the XX/XY system of sex chromosomes homologous to chicken chromosome 15 (GGA15) was revealed and 106 X-linked ...
Talarico G G a Memory Clinic, Department of Neurology and Psychiatry , University "Sapienza" , Rome , - - 2014
An expanded hexanucleotide (GGGGCC) repeat in a non-coding promoter region of open reading frame 72 of chromosome 9 (C9ORF72) has been recently identified as a major cause of familial and sporadic frontotemporal lobar degeneration. We describe the clinical picture of a 64-year-old woman carrying the hexanucleotide repeat expansion, who developed ...
van Arensbergen Joris J Division of Gene Regulation, Netherlands Cancer Institute, 1066 CX Amsterdam, The - - 2014
Although it was originally believed that enhancers activate only the nearest promoter, recent global analyses enabled by high-throughput technology suggest that the network of enhancer-promoter interactions is far more complex. The mechanisms that determine the specificity of enhancer-promoter interactions are still poorly understood, but they are thought to include biochemical ...
Du Meijun M Department of Pathology and Cancer Center, Medical College of Wisconsin, Milwaukee, WI - - 2014
Chromosome 8q24 locus contains regulatory variants that modulate genetic risk to various cancers including prostate cancer (PC). However, the biological mechanism underlying this regulation is not well understood. Here, we developed a chromosome conformation capture (3C)-based multiple target sequencing (3C-MTS) technology and systematically examined three PC risk regions at the ...
Liang Huizhen H Henan Sesame Research Center, Henan Academy of Agricultural Sciences, Zhengzhou, 450002, People's Republic of China, - - 2014
This study provides a foundation for further research on root genetic regulation and molecular breeding with emphasis on correlations among root traits to ensure robust root growth and well-developed root systems. A set of 447 recombinant inbred lines (RILs) derived from a cross between Jingdou23 (cultivar, female parent) and ZDD2315 ...
Humphryes Neil N Department of Biology, New York University, New York, - - 2014
Meiotic recombination has two key functions: the faithful assortment of chromosomes into gametes and the creation of genetic diversity. Both processes require that meiotic recombination occurs between homologous chromosomes, rather than sister chromatids. Accordingly, a host of regulatory factors are activated during meiosis to distinguish sisters from homologues, suppress recombination ...
Tanaka Satomi S SS Department of Kidney Development, Institute of Molecular Embryology and Genetics, Kumamoto University, 2-2-1 Honjo, Kumamoto, 860-0811, Japan, - - 2014
Sex determination is essential for the sexual reproduction to generate the next generation by the formation of functional male or female gametes. In mammals, primary sex determination is commenced by the presence or absence of the Y chromosome, which controls the fate of the gonadal primordium. The somatic precursor of ...
Vinatier Isabelle I Laboratoire CERBA, 95066 Cergy-Pontoise cedex 9, - - 2014
We report, in a 78-year old man constitutionally heterozygous for the sickle cell trait, a late onset sickle cell disease (SCD) caused by a mosaic segmental uniparental isodisomy of chromosome 11p15. The mosaic loss of heterozygosity (LOH) of the HBB gene was suggested in front of an unusually weak β(A) ...
Laczmanska Izabela I Genetics Department, Wroclaw Medical University, Wroclaw, Poland. Electronic address: - - 2014
Protein tyrosine phosphatases that act in different cellular pathways are described most commonly as tumor suppressors, but also as oncogenes. Their role has previously been described in colorectal cancer, as well as in gastric, breast, thyroid, prostate, ovarian, pancreatic, glioma, liver, leukemia and many other cancers. In a previous study, ...
Kol-Maimon Hofit H Department of Entomology, The Volcani Center, ARO, 50250, Bet Dagan, - - 2014
Mealybugs have a haplodiploid reproduction system, with paternal genome elimination (PGE); the males are diploid soon after fertilization, but during embryogenesis, the male paternal set of chromosomes becomes heterochromatic (HC) and therefore inactive. Previous studies have suggested that paternal genes can be passed on from mealybug males to their sons, ...
Okumura Akihisa A Department of Pediatrics, Faculty of Medicine, Juntendo University, Tokyo, Japan; Department of Pediatrics, Aichi Medical University, Aichi, Japan. Electronic address: - - 2014
Microdeletion and microduplication syndromes without characteristic dysmorphic features are difficult to diagnose without chromosomal microarrays. We describe the clinical course and genetic findings of monozygotic twins with intellectual disabilities and autistic features associated with mild facial dysmorphism and microdeletion of chromosome 3p14. The postnatal course of the second twin was ...
Timmons Lisa L Department of Molecular Biosciences, The University of Kansas, Lawrence, KS 66045, - - 2014
Rare Caenorhabditis elegans males arise when sex chromosome non-disjunction occurs during meiosis in self-fertilizing hermaphrodites. Non-disjunction is a relatively rare event, and males are typically observed at a frequency of less than one in five hundred wild-type animals. Males are required for genetic crosses and phenotypic analysis, yet current methods ...
Gu Guangyu G Department of Pathology, University of Utah, Salt Lake City, UT, USA; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA; Genetics Associates, Inc. Nashville, TN, - - 2014
Acute lymphoblastic leukemia (ALL) is the most common form of childhood malignancy. Detecting and characterizing recurrent translocations is critical for ALL diagnosis and treatment. IGH (immunoglobulin heavy chain) rearrangements are relatively common in lymphoproliferative disorders, including ALL. Here we report a 16-year-old boy who was diagnosed with B acute lymphoblastic ...
Cheung Catis Hin Ying CH Department of Biology and Chemistry, City University of Hong Kong, Kowloon, Hong Kong, SAR, - - 2014
Hypoxia caused by eutrophication is amongst the most pressing global problems in aquatic systems. Notably, more than 400 "dead zones" have been identified worldwide, resulting in large scale collapse of fisheries and major changes in the structure and trophodynamics. Recent studies further discovered that hypoxia can also disrupt sex hormone ...
Evans Ben J BJ Biology Department, McMaster University, Hamilton, ON, Canada - - 2014
In species with separate sexes, social systems can differ in the relative variances of male versus female reproductive success. Papionin monkeys (macaques, mangabeys, mandrills, drills, baboons, and geladas) exhibit hallmarks of a high variance in male reproductive success, including a female-biased adult sex ratio and prominent sexual dimorphism. To explore ...
Huang C Q CQ Tropical Crops Genetic Resources Institute, Chinese Academy of Tropical Agricultural Sciences/Key Laboratory of Crop Gene Resources and Germplasm Enhancement in Southern China, Ministry of Agriculture, Danzhou, 571737, Hainan, China, - - 2014
Sequence-related amplified polymorphism (SRAP) is a new molecular marker technology developed based on polymerase chain reaction. The authenticity of 84 progenies of 8 hybrid combinations of Stylosanthes guianensis was identified by SRAP markers to select the true hybrids used in the present study. A total of 35 SRAP primer combinations ...
Fabris Victoria T VT Laboratory of Hormonal Carcinogenesis, Instituto de Biología y Medicina Experimental (Consejo Nacional de Investigaciones Científicas y Técnicas - CONICET), Buenos Aires, Argentina. Electronic address: - - 2014
Cytogenetic studies of breast cancer cells have identified numerous chromosomal imbalances, including gains in human chromosome regions 1q, 4p, 8q, and 20q and losses in regions 1p, 3p, 6q, 11q, 16q, 17p, and 22q. Mouse models have been developed to study the mechanisms of mammary carcinogenesis, and in most cases, ...
Tavaniello S S Department of Agricultural, Environmental and Food Sciences, University of Molise, Via F. De Sanctis snc, 86100 Campobasso, - - 2014
The current research was conducted to compare growth, carcass traits, pH, intramuscular collagen (IMC) properties, and genetic bases of IMC and carcasses (breast-muscle weight) of different lines and generations of adult males and females of Japanese quail (Coturnix japonica). Forty-four quails (generation F0), 22 Pharaoh (F-33) meat-type males and 22 ...
Dor Lior L Hebrew University of Jerusalem; Agricultural Research - - 2014
The white grouper (Epinephelus aeneus) is a promising candidate for domestication and aquaculture due to its fast growth, excellent taste and high market price. A linkage map is an essential framework for mapping QTL for economic traits, and study of genome evolution. DNA of a single individual was deep-sequenced and ...
Pentinpuro Raija Helena RH Oral Development and Orthodontics, Institute of Dentistry, University of - - 2014
Abstract Objective. Previous results regarding human sex chromosome aneuploidies have shown that the X and Y chromosomes affect tooth size and morphology. This study looked for the effect of sex chromosome deficiency on permanent tooth crown heights. Materials and methods. The material, from the Finnish KVANTTI Research Project, consisted of ...
Brown Emily J EJ Department of Integrative Biology, University of California Berkeley, Berkeley, California 94720, - - 2014
The chromatin landscape is key for gene regulation, but little is known about how it differs between sexes or between species. Here, we study the sex-specific chromatin landscape of Drosophila miranda, a species with young sex chromosomes, and compare it with Drosophila melanogaster. We analyze six histone modifications in male ...
Kiuchi Takashi T Department of Agricultural and Environmental Biology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, 1-1-1 Yayoi, Bunkyo-ku, Tokyo 113-8657, - - 2014
The silkworm Bombyx mori uses a WZ sex determination system that is analogous to the one found in birds and some reptiles. In this system, males have two Z sex chromosomes, whereas females have Z and W sex chromosomes. The silkworm W chromosome has a dominant role in female determination, ...
Arboleda Valerie A VA University of California, Los - - 2014
To identify novel genomic regions that regulate sex determination, we utilize the powerful C57BL/6J-Y(POS) (B6-Y(POS)) model of XY sex reversal where mice with autosomes from the B6 strain and a Y-chromosome from a wild-derived strain, Mus domesticus poschiavinus (Y(POS)), show complete sex reversal. In B6-Y(POS), the presence of a 55-Megabase ...
Zhang Jisen J FAFU and UIUC-SIB Joint Center for Genomics and Biotechnology, Fujian Agriculture and Forestry University, Fuzhou, Fujian 350002, - - 2014
Sex determination is a major switch in the evolutionary history of angiosperm, resulting 11% monoecious and dioecious species. The genomic sequences of papaya sex chromosomes unveiled the molecular basis of recombination suppression in the sex determination region, and candidate genes for sex determination. Identification and analyses of sex determination genes ...
Robinson Stephen P - - 2014
One proposed consequence of inbreeding is a skewed sex ratio arising from sex specific mortality in the homogametic sex caused by inbreeding on the sex chromosome. However, recent work suggests that random distortions in sex ratio due to autosomal inbreeding may be of greater importance. In this study, we investigate ...
Pokorná Martina M Faculty of Science, Department of Ecology, Charles University in Prague, Vini─Źná 7, 128 44, Praha 2, Czech Republic, - - 2014
It is notable that the occurrence of multiple sex chromosomes differs significantly between major lineages of amniote vertebrates. In this respect, birds are especially conspicuous, as multiple sex chromosomes have not been observed in this lineage so far. On the other hand, in mammals, multiple sex chromosomes have evolved many ...
Cursino Marina Suzuki - - 2014
The red brocket deer, Mazama americana, has at least six distinct karyotypes in different regions of South America that suggest the existence of various species that are today all referred to as M. americana. From an evolutionary perspective, the red brockets are a relatively recent clade that has gone through ...
Pokorná M M Department of Ecology, Faculty of Science, Charles University in Prague, Prague, Czech - - 2014
Geckos (Gekkota) are a highly diversified group of lizards with an exceptional diversity in sex-determining systems. Despite this intriguing documented variability, data on sex determination in many lineages is still scarce. Here, we document the previously overlooked heteromorphic ZZ/ZW sex chromosomes in the thick-tailed gecko, Underwoodisaurus milii, a member of ...
Shukla Jayendra N JN University of Kentucky, United - - 2014
The red flour beetle, Tribolium castaneum follows XX (female) and XY (male) sex determination system. Maternal supply of Transformer (Tra) is required for XX insects to follow the female pathway. The nature and the source of signal that regulates male sex determination in XY beetles are not known. Parental RNAi ...
Graves Jennifer A Marshall JA La Trobe Institute of Molecular Science, Melbourne, Victoria, - - 2014
Sex chromosomes in mammals, birds, reptiles and fish represent many independent evolutionary events, but there is spectacular convergence and stunning parallels. A new study details the early stages of ZW differentiation and sex determination in a flatfish and the establishment of dosage compensation and sex reversal by epigenetic mechanisms including ...
McLachlan Sandra M SM Cedars-Sinai Research Institute & UCLA, Endocrinology, 8700 Beverly Blvd, B-131, Los Angeles, California, United States, 90048, (1) 310 423 7680, 310 423 0221 ; - - 2014
Background: Previously, we studied the genetic basis for variability in total thyroxine (TT4) as part of investigating induced Graves' hyperthyroidism in large panels of genetically diverse recombinant inbred (RI) mice. Because Graves' disease occurs predominantly in women, we used female mice. A limitation of this approach is that thyrotropin (TSH) ...
Saunders Paul A PA Institut des Sciences de l'Evolution de Montpellier, UMR 5554, Université Montpellier II, Montpellier, France. - - 2014
All therian mammals have a similar XY/XX sex determination system except for a dozen species. The African pygmy mouse, Mus minutoides, harbors an unconventional system in which all males are XY, and there are three types of females: the usual XX but also XX* and X*Y ones (the asterisk designates ...
Otto S P SP Department of Zoology & Biodiversity Research Centre, University of British Columbia, Vancouver, BC, - - 2014
A hallmark of many sex chromosomes is the dramatically reduced rate of recombination between them in the heterogametic sex (e.g. between the X and Y). Sexually antagonistic selection is thought to be the main selective driver of this reduced recombination, with tighter linkage strengthening the association between alleles favourable to ...
Gamble Tony T Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, Minnesota, USA; Bell Museum of Natural History, University of Minnesota, Minneapolis, Minnesota, - - 2014
A major barrier to evolutionary studies of sex determination and sex chromosomes has been a lack of information on the types of sex-determining mechanisms that occur among different species. This is particularly problematic in groups where most species lack visually heteromorphic sex chromosomes, such as fish, amphibians and reptiles, because ...
Arnold Arthur P AP Department of Integrative Biology & Physiology, Laboratory of Neuroendocrinology of the Brain Research Institute, University of California, Los Angeles. Electronic address: - - 2014
A sophisticated mechanistic understanding of physiology and disease requires knowledge of how sex-biasing factors cause sex differences in phenotype. In therian mammals, all sex differences are downstream of the unequal effects of XX vs. XY sex chromosomes. Three major categories of sex-biasing factors are activational and organizational effects of gonadal ...
Shao Changwei C Yellow Sea Fisheries Research - - 2014
Environmental sex determination (ESD) occurs in divergent, phylogenetically unrelated taxa, and in some species co-occurs with genetic sex determination (GSD) mechanisms. Although epigenetic regulation in response to environmental effects has long been proposed to be associated with ESD, a systemic analysis on epigenetic regulation of ESD is still lacking. Using ...
Vernet Nadège N MRC National Institute for Medical Research, London NW7 1AA, - - 2014
Outbred XY(Sry-) female mice that lack Sry due to the 11 kb deletion Sry(dl1Rlb) have very limited fertility. However, five lines of outbred XY(d) females with Y chromosome deletions Y(Del(Y)1Ct)-Y(Del(Y)5Ct) that deplete the Rbmy gene cluster and repress Sry transcription were found to be of good fertility. Here we tested ...
Warr Nick N Mammalian Genetics Unit - - 2014
Disorders of sex development (DSD) in the human population range in severity from mild genital defects to gonadal sex reversal. XY female development has been associated with heterozygous mutations in several genes, including SOX9, WT1 and MAP3K1. In contrast, XY sex reversal in mice usually requires complete absence of testis-determining ...
Hall A Brantley AB Department of Biochemistry, Virginia - - 2014
The preservation of a homomorphic sex-determining chromosome in some organisms without transformation into a heteromorphic sex chromosome is a long-standing enigma in evolutionary biology. A dominant sex-determining locus (or M-locus) in an undifferentiated homomorphic chromosome confers the male phenotype in the yellow fever mosquito Aedes aegypti. Genetic evidence suggests that ...
Kuparinen A A Ecological Genetics Research Unit, Department of Biosciences, P.O. Box 65, FI-00014 University of Helsinki, - - 2014
Mechanisms of hybridization between bream Abramis brama and roach Rutilus rutilus were studied within the native range of the species in a lake in southern Finland. Through the genetic analysis of A. brama, R. rutilus and putative hybrids, hybridization is shown to have occurred between female A. brama and male ...
Silkaitis Katherine - - 2014
Several autoimmune and neurological diseases exhibit a sex bias, but discerning the causes and mechanisms of these biases has been challenging. Sex differences begin to manifest themselves in early embryonic development, and gonadal differentiation further bifurcates the male and female phenotypes. Even at this early stage, however, there is evidence ...
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