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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) ...
Huang Hsien-Neng HN Graduate Institute of Pathology, College of Medicine, National Taiwan University, Taipei, Taiwan, 10002; Department of Pathology, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu, Taiwan, - - 2014
This study aims to evaluate the relationships between chromosome 20q13.2 zinc finger protein 217 (ZNF217) locus amplification, ZNF217 expression, E-cadherin expression, and PI3K-Akt pathway alterations (activating PIK3CA mutations or loss of phosphatase and tensin homolog [PTEN] expression), and whether these molecular alterations can predict the clinical survival data in ovarian ...
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 ...
Atack E E Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, - - 2014
We report a 12-year-old boy referred to the Clinical Genetics service in view of facial dysmorphism, learning difficulties and autistic spectrum disorder. 60K arrayCGH revealed an 8.2-Mb duplication on chromosome 13q31.3q32.3, which was paternally inherited. This specific duplication on chromosome 13 has not been previously reported in the medical literature, ...
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 ...
Fujii Jun J Department of Biology, Waseda University, Tokyo, - - 2014
In mice and humans, the androgen receptor (AR) gene, located on the X chromosome, is not known to be involved in sex determination. In the Japanese frog Rana rugosa the AR is located on the sex chromosomes (X, Y, Z and W). Phylogenetic analysis shows that the AR on the ...
Dufresnes Christophe C Department of Ecology and evolution, Biophore Building, University of Lausanne, Lausanne, - - 2014
In contrast with mammals and birds, most poikilothermic vertebrates feature structurally undifferentiated sex chromosomes, which may result either from frequent turnovers, or from occasional events of XY recombination. The latter mechanism was recently suggested to be responsible for sex-chromosome homomorphy in European tree frogs (Hyla arborea). However, no single case ...
Leamy Larry J LJ Department of Biological Sciences, University of North Carolina at Charlotte , Charlotte, NC , - - 2014
Obesity in human populations, currently a serious health concern, is considered to be the consequence of an energy imbalance in which more energy in calories is consumed than is expended. We used interval mapping techniques to investigate the genetic basis of a number of energy balance traits in an F11 ...
Takehana Yusuke Y 1] Laboratory of Bioresources, National Institute for Basic Biology, Okazaki 444-8585, Japan [2] Department of Basic Biology, the Graduate University for Advanced Studies (SOKENDAI), Okazaki 444-8585, - - 2014
Sex chromosomes harbour a primary sex-determining signal that triggers sexual development of the organism. However, diverse sex chromosome systems have been evolved in vertebrates. Here we use positional cloning to identify the sex-determining locus of a medaka-related fish, Oryzias dancena, and find that the locus on the Y chromosome contains ...
Galizi Roberto R 1] Department of Life Sciences, Imperial College London, South Kensington Campus, London SW7 2AZ, UK [2] Centro di Genomica Funzionale, University of Perugia, Dipartimento di Medicina Sperimentale Via Gambuli, Edificio D, 3° Piano, 06132 Perugia, - - 2014
It has been theorized that inducing extreme reproductive sex ratios could be a method to suppress or eliminate pest populations. Limited knowledge about the genetic makeup and mode of action of naturally occurring sex distorters and the prevalence of co-evolving suppressors has hampered their use for control. Here we generate ...
Scerbo María J MJ Laboratory of Neurophysiology, Instituto de Investigación Médica Mercedes y Martín Ferreyra, INIMEC-CONICET - Universidad Nacional de Córdoba Córdoba, - - 2014
The organizational action of testosterone during critical periods of development is the cause of numerous sex differences in the brain. However, sex differences in neuritogenesis have been detected in primary neuronal hypothalamic cultures prepared before the peak of testosterone production by fetal testis. In the present study we assessed the ...
Olivier-Van Stichelen Stéphanie S Laboratory of Cellular and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institute of Health Bethesda, MD, - - 2014
O-GlcNAc Transferase (OGT) catalyzes protein O-GlcNAcylation, an abundant and dynamic nuclear and cytosolic modification linked to epigenetic regulation of gene expression. The steady-state levels of O-GlcNAc are influenced by extracellular glucose concentrations suggesting that O-GlcNAcylation may serve as a metabolic sensor. Intriguingly, human OGT is located on the X-chromosome (Xq13) ...
Hemmat Morteza M Cytogenetics Department, Quest Diagnostics Nichols Institute, 33608 Ortega Hwy, 92675 San Juan Capistrano, CA, - - 2014
Advances in genome-wide molecular cytogenetics allow identification of novel submicroscopic DNA copy number alterations (aCNAs) and copy-neutral loss of heterozygosity (cnLOH) resulting in homozygosity for known gene mutations in myeloid neoplasms. We describe the use of an oligo-SNP array for genomic profiling of aCNA and cnLOH, together with sequence analysis ...
Moumni Imen I 0000-0003-0914-3916 Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, El Belvedere, 1002 Tunis, - - 2014
β-Globin haplotypes are important to establish the ethnic origin and predict the clinical development of sickle cell disease patients (SCD). To determine the chromosomal background of β (S) Tunisian sickle cell patients, in this first study in Tunisia, we have explored four polymorphic regions of β-globin cluster on chromosome 11. ...
Wang Lixiang L Key Laboratory of Chemistry of Plant Resources in Arid Regions, Xinjiang Technical Institute of Physics and Chemistry, Chinese Academy of Sciences, Urumqi, 830011 China ; Key State Laboratory of Plant Cell & Chromosome Engineering Center of Agricultural Resources Research, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, 286 Huaizhong Road, Shijiazhuang, Hebei 050021 - - 2014
In the present study, genetic linkage analysis was carried out to map the fiber color loci Lc 1 and Lc 2 on two brown cotton cultivars with SSR and EST-SSR markers in the reference map by F2 segregation populations. The Lc 1 locus carried by Xincaimian6 (Gossypium hirsutum L.) was ...
Shandilya Jayasha J Department of Biological Sciences, University at Buffalo, Cooke Hall, North Campus, Buffalo, New York 14260, - - 2014
Tumour suppressors safeguard the fidelity of the mitotic checkpoint by transcriptional regulation of genes that encode components of the mitotic checkpoint complex (MCC). Here we report a new role for the tumour suppressor and transcription factor, WT1, in the mitotic checkpoint. We show that WT1 regulates the MCC by directly ...
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 ...
Kjeldsen Eigil E Department of Hematology, HemoDiagnostic Laboratory, Cancer Cytogenetics Section, Aarhus University Hospital, Tage-Hansens Gade 2, Ent. 4A, DK-8000 Aarhus C, - - 2014
Nonrandom clonal chromosomal aberrations can be detected in approximately 55% of adult patients with acute myeloid leukemia (AML). Recurrent cytogenetic abnormalities play an important role in diagnosis, classification and prognosis of AML. However, several chromosomal abnormalities have not been completely determined or characterized, primarily because of their low incidence and ...
Zagaria Antonella A Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section - University of Bari, P.zza G. Cesare, 11 70124 Bari, - - 2014
The runt-related transcription factor 1 (RUNX1) gene is a transcription factor that acts as a master regulator of hematopoiesis and represents one of the most frequent targets of chromosomal rearrangements in human leukemias. The t(7;21)(p22;q22) rearrangement generating a 5'RUNX1-3'USP42 fusion transcript has been reported in two cases of pediatric acute ...
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