473,081 results match your criteria Chromosome research : an international journal on the molecular supramolecular and evolutionary aspects of chromosome biology[Journal]


FTDP-17 mutations alter the aggregation and microtubule stabilization propensity of tau in an isoform-specific fashion.

Biochemistry 2018 Dec 18. Epub 2018 Dec 18.

More than fifty different intronic and exonic autosomal dominant mutations in the tau gene have been linked to the neurodegenerative disorder frontotemporal dementia with Parkinsonism linked to chromosome-17 (FTDP-17). Although the pathological and clinical presentation of this disorder is heterogeneous among patients, the deposition of tau as pathological aggregates is a common feature. Collectively, FTDP-17 mutations have been shown to alter tau's ability to stabilize microtubules, enhance its aggregation, alter mRNA splicing, or induce its hyperphosphorylation, among other effects. Read More

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http://dx.doi.org/10.1021/acs.biochem.8b01039DOI Listing
December 2018

Differential Expression of dmrt1 in Astyanax scabripinnis (Teleostei, Characidade) Is Correlated with B Chromosome Occurrence.

Zebrafish 2018 Dec 18. Epub 2018 Dec 18.

1 Departamento de Genética e Evolução, Programa de Pós-Graduação em Biologia Evolutiva e Genética Molecular, Universidade Federal de São Carlos , São Carlos, Brazil .

Astyanax is an abundant fish genus in South America. Some species of this group are characterized by the presence of B chromosomes and absence of morphologically differentiated sex chromosomes. In this study, we used quantitative real-time polymerase chain reaction to characterize mRNA expression of dmrt1 in Astyanax scabripinnis gonads. Read More

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http://dx.doi.org/10.1089/zeb.2018.1650DOI Listing
December 2018

Prevalence rates of spina bifida in Alberta, Canada: 2001-2015. Can we achieve more prevention?

Birth Defects Res 2018 Dec 18. Epub 2018 Dec 18.

Analytics and Reporting Branch, Alberta Health, Edmonton, Alberta, Canada.

Background: Despite a substantial prevention of neural tube defects with mandatory folic acid (FA) fortification, a significant number of cases still exist in Alberta, Canada, particularly spina bifida (SB). The purpose of this study was to review cases with SB to provide a possible explanation as to why SB is still prevalent in Alberta.

Methods: Cases with SB born between 2001 and 2015, ascertained by the Alberta Congenital Anomalies Surveillance System, were reviewed. Read More

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http://dx.doi.org/10.1002/bdr2.1438DOI Listing
December 2018

Cross-sectional associations of sex hormones with leucocyte telomere length, a marker of biological age, in a community-based cohort of older men.

Clin Endocrinol (Oxf) 2018 Dec 18. Epub 2018 Dec 18.

PathWest Laboratory Medicine, Sir Charles Gairdner Hospital, Perth, Western Australia, 6009, Australia.

Context: Telomeres protect chromosomes from damage, and shorter leucocyte telomere length (LTL) is a marker of advancing biological age. The association between testosterone (T) and its bioactive metabolites, dihydrotestosterone (DHT) and estradiol (E2) with telomere length, particularly in older men, is uncertain. The study aimed to clarify associations of sex hormones with LTL in older men. Read More

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http://dx.doi.org/10.1111/cen.13918DOI Listing
December 2018

A newly-identified cluster of glutathione S-transferase genes provides Verticillium wilt resistance in cotton.

Plant J 2018 Dec 18. Epub 2018 Dec 18.

North China Key Laboratory for Germplasm Resources of Education Ministry, Co-Innovation Center for Cotton Industry of Hebei Province, Hebei Agricultural University, Baoding, 071001, China.

As the largest cultivated fiber crop in the world, cotton (Gossypium hirsutum) is often exposed to various biotic stresses during its growth periods. Verticillium wilt, caused by Verticillium dahliae, is a severe disease in cotton, and the molecular mechanism of cotton resistance to Verticillium wilt needs to be further investigated. Here, we revealed that the cotton genome contained nine types of GST genes. Read More

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http://dx.doi.org/10.1111/tpj.14206DOI Listing
December 2018

PREDICTING BIOLOGICAL EFFECTS ALONG HADRONTHERAPY DOSE PROFILES BY THE BIANCA BIOPHYSICAL MODEL.

Radiat Prot Dosimetry 2018 Dec 17. Epub 2018 Dec 17.

National Institute of Nuclear Physics (INFN), INFN-Sezione di Pavia, via Bassi 6, Pavia, Italy.

The BIANCA biophysical model of cell death and chromosome aberrations was further refined and applied to predict the biological effectiveness along Spread-Out Bragg Peaks used in hadrontherapy. The simulation outcomes were compared with in vitro survival data on protons, He-ions and C-ions over a wide LET range, and the particle- and LET-dependence of the DNA Cluster Lesions (CLs) yields used as input parameters was investigated. For each particle type, the CL yield was found to increase with LET in a linear-quadratic fashion; fitting the CL yields allowed to predict cell death and chromosome aberrations in principle at any depth along a longitudinal proton dose profile used at CNAO. Read More

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http://dx.doi.org/10.1093/rpd/ncy263DOI Listing
December 2018

Comparison of the hepatic metabolism of triazolam in wild-type and Cyp3a-knockout mice for understanding CYP3A-mediated metabolism in CYP3A-humanized mice in vivo.

Xenobiotica 2018 Dec 18:1-37. Epub 2018 Dec 18.

a Laboratory of DDS design and Drug Disposition, Graduate School of Pharmaceutical Sciences , Chiba University , Chiba 260-8675 , Japan.

1. To investigate cytochrome P450 3A (CYP3A)-mediated metabolism in vivo, plasma concentrations of triazolam (TRZ) are often monitored as a CYP3A marker in CYP3A-humanised mice. However, it has not been determined whether plasma concentrations of TRZ after intravenous administration can reflect hepatic CYP3A activity in CYP3A-humanised mice. Read More

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http://dx.doi.org/10.1080/00498254.2018.1560516DOI Listing
December 2018

Mid-region parathyroid hormone-related protein is a genome-wide chromatin-binding factor that promotes growth and differentiation of HB2 epithelial cells from the human breast.

Biofactors 2018 Dec 18. Epub 2018 Dec 18.

Dipartimento di Scienze e Tecnologie Biologiche, Chimiche e Farmaceutiche (STEBICEF), Università di Palermo, Palermo, Italy.

Human parathyroid hormone-related protein (PTHrP) is a polyhormone that undergoes proteolytic cleavage producing smaller peptides which exert diversified biological effects. PTHrP signalization is prominently involved in breast development and physiology, but the studies have been focused onto either N-terminal species or full-length protein introduced by gene transfer techniques. Our present work investigates for the first time the effect of the mid-region PTHrP secretory form, that is, the fragment [38-94], on HB2 non-tumoral breast epithelial cells. Read More

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http://dx.doi.org/10.1002/biof.1484DOI Listing
December 2018

Genetic variants in SLC22A3 contribute to the susceptibility to colorectal cancer.

Int J Cancer 2018 Dec 18. Epub 2018 Dec 18.

Department of Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.

Previous a genome-wide association study (GWAS) of colorectal cancer in Japanese population has identified a risk region at the chromosome 6q26-q27 associated with colorectal cancer risk. However, the causal gene at this locus remained unclear. In this study, we enrolled a total of 14 candidate functional single nucleotide polymorphisms (SNPs) at 6q26-q27 (318 kb), and then genotyped them by TaqMan method in a Chinese population including 1,147 colorectal cancer cases and 1,203 controls. Read More

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http://dx.doi.org/10.1002/ijc.32079DOI Listing
December 2018

Female XX sex chromosomes increase survival and extend lifespan in aging mice.

Aging Cell 2018 Dec 17:e12871. Epub 2018 Dec 17.

Department of Neurology, Biomedical Sciences Graduate Program, and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, California.

Female longevity is observed in humans and much of the animal kingdom, but its causes remain elusive. Using a genetic manipulation that generates XX and XY mice, each with either ovaries or testes, we show that the female XX sex chromosome complement increases survival during aging in male and female mice. In combination with ovaries, it also extends lifespan. Read More

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http://dx.doi.org/10.1111/acel.12871DOI Listing
December 2018

Forensic and phylogenetic analyses among three Yi populations in Southwest China with 27 Y chromosomal STR loci.

Int J Legal Med 2018 Dec 17. Epub 2018 Dec 17.

Department of Forensic Toxicological Analysis, West China School of Basic Medical Sciences & Forensic Medicine, Sichuan University, Chengdu, 610016, Sichuan, China.

We have analyzed the Y chromosome haplotypes of 510 non-related Yi males grouped in three Chinese provinces (Guizhou, Sichuan, and Yunnan) using the Yfiler® Plus Kit. A total of 484 haplotypes were detected, out of which 460 were unique. The observed haplotype diversity and discrimination capacity were 0. Read More

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http://dx.doi.org/10.1007/s00414-018-1984-4DOI Listing
December 2018

Analysis of genes encoding seed storage proteins (SSPs) in chickpea (Cicer arietinum L.) reveals co-expressing transcription factors and a seed-specific promoter.

Funct Integr Genomics 2018 Dec 17. Epub 2018 Dec 17.

National Institute of Plant Genome Research, Aruna Asaf Ali Marg, PO Box No. 10531, New Delhi, 110067, India.

Improvement of the quality and quantity of chickpea seed protein can be greatly facilitated by an understanding of the genic organization and the genetic architecture of the genes encoding seed storage proteins (SSPs). The aim of this study was to provide a comprehensive analysis of the chickpea SSP genes, putative co-expressing transcription factors (TFs), and to identify a seed-specific SSP gene promoter. A genome-wide identification of SSP genes in chickpea led to the identification of 21 non-redundant SSP encoding genes located on 6 chromosomes. Read More

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http://dx.doi.org/10.1007/s10142-018-0650-8DOI Listing
December 2018

Copula-based score test for bivariate time-to-event data, with application to a genetic study of AMD progression.

Lifetime Data Anal 2018 Dec 17. Epub 2018 Dec 17.

Department of Biostatistics, University of Pittsburgh, Pittsburgh, PA, USA.

Motivated by a genome-wide association study to discover risk variants for the progression of Age-related Macular Degeneration (AMD), we develop a computationally efficient copula-based score test, in which the dependence between bivariate progression times is taken into account. Specifically, a two-step estimation approach with numerical derivatives to approximate the score function and observed information matrix is proposed. Both parametric and weakly parametric marginal distributions under the proportional hazards assumption are considered. Read More

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http://dx.doi.org/10.1007/s10985-018-09459-5DOI Listing
December 2018

Transcriptome-based gene expression profiling of diploid radish (Raphanus sativus L.) and the corresponding autotetraploid.

Mol Biol Rep 2018 Dec 17. Epub 2018 Dec 17.

National Key Laboratory of Crop Genetics and Germplasm Enhancement, Key Laboratory of Horticultural Crop Biology and Genetic Improvement (East China) of MOA, College of Horticulture, Nanjing Agricultural University, Nanjing, 210095, People's Republic of China.

Polyploidy is an important evolutionary factor in most land plant lineages which possess more than two complete sets of chromosomes. Radish (Raphanus sativus L.) is an economically annual/biennial root vegetable crop worldwide. Read More

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http://dx.doi.org/10.1007/s11033-018-4549-1DOI Listing
December 2018

Perspective: DNA Copy Number Variations in Cardiovascular Diseases.

Epigenet Insights 2018 12;11:2516865718818839. Epub 2018 Dec 12.

Genomics Division, Defence Institute of Physiology and Allied Sciences, DRDO, Delhi, India.

Human genome contains many variations, often called mutations, which are difficult to detect and have remained a challenge for years. A substantial part of the genome encompasses repeats and when such repeats are in the coding region they may lead to change in the gene expression profile followed by pathological conditions. Structural variants are alterations which change one or more sequence feature in the chromosome such as change in the copy number, rearrangements, and translocations of a sequence and can be balanced or unbalanced. Read More

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http://dx.doi.org/10.1177/2516865718818839DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6291864PMC
December 2018

Identification of a rare homozygous variant due to uniparental disomy in a patient with a neurodevelopmental disorder.

Intractable Rare Dis Res 2018 Nov;7(4):245-250

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

Because biallelic variants have been reported in patients with neurodevelopmental disorders associated with various degrees of developmental delay, intractable seizures, and distinctive features; this condition is recognized as an autosomal recessive disorder. Previously, eleven patients have been reported and most of them have compound heterozygous variants, leading to premature termination. In these patients, all reported variants were unique and there were no common pathogenic variants identified. Read More

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http://dx.doi.org/10.5582/irdr.2018.01117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290849PMC
November 2018

A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment.

Intractable Rare Dis Res 2018 Nov;7(4):223-228

Key Laboratory for Rare Disease Research of Shandong Province, Key Laboratory for Biotech Drugs of the Ministry of Health, Shandong Medical Biotechnological Center, Shandong Academy of Medical Sciences, Ji'nan, China.

Turner syndrome (TS), also known as Congenital ovarian hypoplasia syndrome, occurs when the X chromosome is partially or completely missing in females. Its main clinical manifestations include growth disorders, reproductive system abnormalities, cardiovascular abnormalities, and autoimmune diseases. TS is highly prevalent in China. Read More

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http://dx.doi.org/10.5582/irdr.2017.01056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290843PMC
November 2018

Physicochemical and Genotoxic Evaluations of Singed Cowhide Meat () Wastewater.

J Health Pollut 2018 Dec 3;8(20):181207. Epub 2018 Dec 3.

Department of Cell Biology and Genetics, Environmental Biology Unit, Faculty of Science, University of Lagos, Lagos, Nigeria.

Introduction: In spite of doubts over the safety and nutritional benefits of singed cowhide meat, called in some parts of Nigeria, and its potential negative impact on the hide and leather industry, consumption in Nigeria and many parts of Africa has continued unabated.

Objectives: In the present study, physicochemical and genotoxic assessments of wastewater used to rinse ready-to-cook singed cowhide meat were carried out.

Methods: Physicochemical analyses were carried out using the American Public Health Association procedures, while genotoxic assessment was carried out using Allium cepa chromosome assay. Read More

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http://dx.doi.org/10.5696/2156-9614-8.20.181207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6285674PMC
December 2018

Functionality of Two Origins of Replication in Strains With a Single Chromosome.

Front Microbiol 2018 30;9:2932. Epub 2018 Nov 30.

LOEWE Centre for Synthetic Microbiology-SYNMIKRO, Philipps-Universität Marburg, Marburg, Germany.

Chromosomal inheritance in bacteria usually entails bidirectional replication of a single chromosome from a single origin into two copies and subsequent partitioning of one copy each into daughter cells upon cell division. However, the human pathogen and other harbor two chromosomes, a large Chr1 and a small Chr2. Chr1 and Chr2 have different origins, an type origin and a P1 plasmid-type origin, respectively, driving the replication of respective chromosomes. Read More

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http://dx.doi.org/10.3389/fmicb.2018.02932DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6284228PMC
November 2018

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.

Nat Genet 2018 Dec 17. Epub 2018 Dec 17.

Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

We combined de novo mutation (DNM) data from 10,927 individuals with developmental delay and autism to identify 253 candidate neurodevelopmental disease genes with an excess of missense and/or likely gene-disruptive (LGD) mutations. Of these genes, 124 reach exome-wide significance (P < 5 × 10) for DNM. Intersecting these results with copy number variation (CNV) morbidity data shows an enrichment for genomic disorder regions (30/253, likelihood ratio (LR) +1. Read More

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http://dx.doi.org/10.1038/s41588-018-0288-4DOI Listing
December 2018

A single circular chromosome yeast.

Cell Res 2018 Dec 17. Epub 2018 Dec 17.

Key Laboratory of Synthetic Biology, CAS Center for Excellence in Molecular Plant Sciences, Shanghai Institute of Plant Physiology and Ecology, Chinese Academy of Sciences, 200032, Shanghai, China.

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http://dx.doi.org/10.1038/s41422-018-0110-yDOI Listing
December 2018

Kinase-dead ATR differs from ATR loss by limiting the dynamic exchange of ATR and RPA.

Nat Commun 2018 Dec 17;9(1):5351. Epub 2018 Dec 17.

Institute for Cancer Genetics, Department of Pathology and Cell Biology, College of Physicians & Surgeons, Columbia University, New York, NY, 10032-3802, USA.

ATR kinase is activated by RPA-coated single-stranded DNA (ssDNA) to orchestrate DNA damage responses. Here we show that ATR inhibition differs from ATR loss. Mouse model expressing kinase-dead ATR (Atr), but not loss of ATR (Atr), displays ssDNA-dependent defects at the non-homologous region of X-Y chromosomes during male meiosis leading to sterility, and at telomeres, rDNA, and fragile sites during mitosis leading to lymphocytopenia. Read More

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http://dx.doi.org/10.1038/s41467-018-07798-3DOI Listing
December 2018

Local and global chromatin interactions are altered by large genomic deletions associated with human brain development.

Nat Commun 2018 Dec 17;9(1):5356. Epub 2018 Dec 17.

Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, 94304, CA, USA.

Large copy number variants (CNVs) in the human genome are strongly associated with common neurodevelopmental, neuropsychiatric disorders such as schizophrenia and autism. Here we report on the epigenomic effects of the prominent large deletion CNVs on chromosome 22q11.2 and on chromosome 1q21. Read More

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http://dx.doi.org/10.1038/s41467-018-07766-xDOI Listing
December 2018

Genomic insights into multidrug-resistance, mating and virulence in Candida auris and related emerging species.

Nat Commun 2018 Dec 17;9(1):5346. Epub 2018 Dec 17.

Broad Institute of MIT and Harvard, Cambridge, MA, 02144, USA.

Candida auris is an emergent multidrug-resistant fungal pathogen causing increasing reports of outbreaks. While distantly related to C. albicans and C. Read More

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http://dx.doi.org/10.1038/s41467-018-07779-6DOI Listing
December 2018

Structural basis of meiotic telomere attachment to the nuclear envelope by MAJIN-TERB2-TERB1.

Nat Commun 2018 Dec 17;9(1):5355. Epub 2018 Dec 17.

Institute for Cell and Molecular Biosciences, Faculty of Medical Sciences, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.

Meiotic chromosomes undergo rapid prophase movements, which are thought to facilitate the formation of inter-homologue recombination intermediates that underlie synapsis, crossing over and segregation. The meiotic telomere complex (MAJIN, TERB1, TERB2) tethers telomere ends to the nuclear envelope and transmits cytoskeletal forces via the LINC complex to drive these rapid movements. Here, we report the molecular architecture of the meiotic telomere complex through the crystal structure of MAJIN-TERB2, together with light and X-ray scattering studies of wider complexes. Read More

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http://dx.doi.org/10.1038/s41467-018-07794-7DOI Listing
December 2018

Rapid recapitulation of non-alcoholic steatohepatitis upon loss of HCF-1 function in mice.

Mol Cell Biol 2018 Dec 17. Epub 2018 Dec 17.

Center for Integrative Genomics, Génopode, University of Lausanne, CH-1015 Lausanne, Switzerland

Host-cell factor 1 (HCF-1), encoded by the ubiquitously expressed X-linked gene , is an epigenetic co-regulator important for mouse development and cell proliferation, including during liver regeneration. We used a hepatocyte-specific inducible knock-out allele (called ), to induce HCF-1 loss in hepatocytes of hemizygous males by four days. In heterozygous females, owing to random X-chromosome inactivation, upon allele induction, a 50/50 mix of HCF-1 positive and negative hepatocyte clusters is engineered. Read More

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http://dx.doi.org/10.1128/MCB.00405-18DOI Listing
December 2018

[A teaching design to introduce chromosomal aberration in genetics using case studies of chimeric genes].

Yi Chuan 2018 Dec;40(12):1129-1135

College of Life Science, Shihezi University, Shihezi 832000, China.

Chromosome structural variations disturb the inherent balance system, affecting biological reproduction and development. It has been a long standing question that teachers often face in undergraduate genetics teaching as to how to further interpret the underlying mechanisms that cause the disorder of the balance system. Some chimeric genes are the products of chromosome structure variation and have specific biological functions. Read More

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http://dx.doi.org/10.16288/j.yczz.18-158DOI Listing
December 2018

[Mapping and cloning of GAD1-2 for long awn using CSSLs in rice (Oryza sativa L.)].

Yi Chuan 2018 Dec;40(12):1101-1111

Institute of Rice, Fujian Academy of Agricultural Sciences, Fuzhou 350018, China.

Rice is an important food crop in the world. The awn may protect rice seeds from being cut by birds, which is important in rice domestication, survival and diffusion. However, the characteristic of awn is gradually washed out during rice domestication and artificial selection. Read More

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http://dx.doi.org/10.16288/j.yczz.18-044DOI Listing
December 2018

A Novel PITX2c Gain-of-Function Mutation, p.Met207Val, in Patients With Familial Atrial Fibrillation.

Am J Cardiol 2018 Dec 3. Epub 2018 Dec 3.

EA4612 Neurocardiologie, Université Lyon 1, Lyon, France. Electronic address:

Genome-wide studies have associated several genetic variants upstream of PITX2 on chromosome 4q25 with atrial fibrillation (AF), suggesting a potential role of PITX2 in AF. Our study aimed at identifying rare coding variants in PITX2 predisposing to AF. The Polymerase chain reaction sequencing of PITX2c was performed in 60 unrelated patients with idiopathic AF. Read More

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http://dx.doi.org/10.1016/j.amjcard.2018.11.047DOI Listing
December 2018

Detection of mutations in SF3B1, EIF1AX and GNAQ in primary orbital melanoma by candidate gene analysis.

BMC Cancer 2018 Dec 17;18(1):1262. Epub 2018 Dec 17.

Orbital Service, Moorfields Eye Hospital, City Road, London, EC1V 2PD, UK.

Background: Ocular melanoma is a rare but often deadly malignancy that arises in the uvea (commonest primary site), conjunctiva or the orbit. Primary orbital melanoma (POM) is exceedingly rare, with approximately 60 cases reported to date. Despite recent advances in our understanding of the genetics of primary uveal and conjunctival melanomas, this information is lacking for POM. Read More

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http://dx.doi.org/10.1186/s12885-018-5190-zDOI Listing
December 2018

DAWN: a resource for yielding insights into the diversity among wheat genomes.

BMC Genomics 2018 Dec 17;19(1):941. Epub 2018 Dec 17.

School of Agriculture, Food and Wine, University of Adelaide, PMB 1, Glen Osmond, 5064, SA, Australia.

Background: Democratising the growing body of whole genome sequencing data available for Triticum aestivum (bread wheat) has been impeded by the lack of a genome reference and the large computational requirements for analysing these data sets.

Results: DAWN (Diversity Among Wheat geNomes) integrates data from the T. aestivum Chinese Spring (CS) IWGSC RefSeq v1. Read More

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http://dx.doi.org/10.1186/s12864-018-5228-2DOI Listing
December 2018

Offline encoding impaired by epigenetic regulations of monoamines in the guided propagation model of autism.

BMC Neurosci 2018 Dec 17;19(1):80. Epub 2018 Dec 17.

LIMSI (Computer Sciences Laboratory for Mechanics and Engineering Sciences), CNRS, rue John Von Neumann, Campus Universitaire d'Orsay - Bâtiment 508, 91403, Orsay Cedex, France.

Background: Environmental factors can modify the expression of genes, including those involved in the metabolism of neurotransmitters. Accounting for a control role of monoamine neurotransmitters, the guided propagation (GP) memory model may contribute to investigate the consequences of neuromodulation impairments on development disorders such as autism. A prenatal transient excess of 'monoamine oxidase A' enzyme is assumed here to trigger persistent epigenetic regulations that would induce imbalanced metabolisms of synaptic monoamines. Read More

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http://dx.doi.org/10.1186/s12868-018-0477-1DOI Listing
December 2018

Chromosome map of the Siamese cobra: did partial synteny of sex chromosomes in the amniote represent "a hypothetical ancestral super-sex chromosome" or random distribution?

BMC Genomics 2018 Dec 17;19(1):939. Epub 2018 Dec 17.

Laboratory of Animal Cytogenetics and Comparative Genomics (ACCG), Department of Genetics, Faculty of Science, Kasetsart University, Bangkok, 10900, Thailand.

Background: Unlike the chromosome constitution of most snakes (2n=36), the cobra karyotype shows a diploid chromosome number of 38 with a highly heterochromatic W chromosome and a large morphologically different chromosome 2. To investigate the process of sex chromosome differentiation and evolution between cobras, most snakes, and other amniotes, we constructed a chromosome map of the Siamese cobra (Naja kaouthia) with 43 bacterial artificial chromosomes (BACs) derived from the chicken and zebra finch libraries using the fluorescence in situ hybridization (FISH) technique, and compared it with those of the chicken, the zebra finch, and other amniotes.

Results: We produced a detailed chromosome map of the Siamese cobra genome, focusing on chromosome 2 and sex chromosomes. Read More

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http://dx.doi.org/10.1186/s12864-018-5293-6DOI Listing
December 2018

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Int J Mol Sci 2018 Dec 16;19(12). Epub 2018 Dec 16.

State Key Lab of Rice Biology, China National Rice Research Institute, Hangzhou 311400, China.

Notched belly grain (NBG) is a type of deformed grain shape that has been associated with inferior appearance and tastes in rice. NBG is coordinated by both environments and genetics. In this study, we report on the first map-based cloning of an NBG gene on chromosome 4, denoted NBG4, which is a novel allele of encoding a cytochrome P450 (CYP724B1) involved in brassinosteroid (BR) biosynthesis. Read More

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http://dx.doi.org/10.3390/ijms19124069DOI Listing
December 2018

Lactose Intolerance, Dairy Avoidance, and Treatment Options.

Nutrients 2018 Dec 15;10(12). Epub 2018 Dec 15.

Department of Medicine, Division of Gastroenterology, Jewish General Hospital, McGill University School of Medicine, 3755 Cote St Catherine Rd, Room E110, Montreal, QC H3T 1E2, Canada.

Lactose intolerance refers to symptoms related to the consumption of lactose-containing dairy foods, which are the most common source for this disaccharide. While four causes are described, the most common is the genetically-determined adult onset lactose maldigestion due to loss of intestinal lactase governed by control of the gene by a 14,000 kb promoter region on chromosome 2. Gastrointestinal symptoms from lactose have expanded to include systemic effects and have also been confounded by other food intolerances or functional gastrointestinal disorders. Read More

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http://dx.doi.org/10.3390/nu10121994DOI Listing
December 2018

Regulation of Structure-Specific Endonucleases in Replication Stress.

Genes (Basel) 2018 Dec 14;9(12). Epub 2018 Dec 14.

Program in Molecular & Computational Biology, University of Southern California, Los Angeles, CA 90089, USA.

Replication stress results in various forms of aberrant replication intermediates that need to be resolved for faithful chromosome segregation. Structure-specific endonucleases (SSEs) recognize DNA secondary structures rather than primary sequences and play key roles during DNA repair and replication stress. Holliday junction resolvase MUS81 (methyl methane sulfonate (MMS), and UV-sensitive protein 81) and XPF (xeroderma pigmentosum group F-complementing protein) are a subset of SSEs that resolve aberrant replication structures. Read More

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http://dx.doi.org/10.3390/genes9120634DOI Listing
December 2018

Resistance to Spot Blotch in Two Mapping Populations of Common Wheat Is Controlled by Multiple QTL of Minor Effects.

Int J Mol Sci 2018 Dec 14;19(12). Epub 2018 Dec 14.

International Maize and Wheat Improvement Center (CIMMYT), Apdo. Postal 6-641, Mexico DF 06600, Mexico.

Spot blotch (SB) is an important fungal disease of wheat in South Asia and South America. Host resistance is regarded as an economical and environmentally friendly approach of controlling SB, and the inheritance of resistance is mostly quantitative. In order to gain a better understanding on the SB resistance mechanism in CIMMYT germplasm, two bi-parental mapping populations were generated, both comprising 232 F progenies. Read More

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http://dx.doi.org/10.3390/ijms19124054DOI Listing
December 2018

A case report: Co-occurrence of Wilson disease and oculocutaneous albinism in a Chinese patient.

Medicine (Baltimore) 2018 Dec;97(50):e13744

The Affiliated Hospital of the Neurology Institute of Anhui University of Chinese Medicine, Hefei, Anhui, China.

Rationale: Both Wilson disease (WD) and Oculocutaneous Albinism (OCA) are rare autosomal recessive disorders that are caused by mutations on chromosome 13 and chromosome 11, respectively. Here, we report on a patient with coexisting WD and OCA, initially presenting episodes of tremors.

Patient Concerns: WD is a disorder of copper metabolism. Read More

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http://dx.doi.org/10.1097/MD.0000000000013744DOI Listing
December 2018

Fetal congenital heart disease: Associated anomalies, identification of genetic anomalies by single-nucleotide polymorphism array analysis, and postnatal outcome.

Medicine (Baltimore) 2018 Dec;97(50):e13617

Department of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.

Background: Congenital heart disease (CHD) is one of the most common birth defects; however, the mechanisms underlying its development are poorly understood. Recently, heritable genetic factors, including copy number variations (CNVs) and single nucleotide polymorphisms (SNPs), have been implicated in its etiology. The aim of this study was to investigate the utility of a SNP array for the prenatal diagnosis of CHD and the improvement of prenatal genetic counseling and to compare this approach to traditional chromosome analysis. Read More

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http://dx.doi.org/10.1097/MD.0000000000013617DOI Listing
December 2018

Regulation of senescence by telomeres and telomerase.

Authors:
Makoto T Hayashi

Nihon Rinsho 2016 Sep;74(9):1485-1490

Telomeres are vital for chromosome end protection against activation of DNA damage response. Telomere attrition leads to cell cycle arrest, which underlies cellular senescence and can restrict tissue replenishment. Although stem cells express telomerase reverse tran- scriptase, which elongates telomeric DNA, its activity is not enough to fully compensate for chronic telomere shortening. Read More

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September 2016

miR-505-3p is a repressor of the puberty onset in female mice.

J Endocrinol 2018 Dec 1. Epub 2018 Dec 1.

J Xiao, The College of Chemistry, Chemical Engineering and Biotechnology, Donghua University, Shanghai, China.

Puberty onset is a complex trait regulated by multiple genetic and environmental factors. In this study, we narrowed a puberty related QTL region down to a 1.7 Mb region on chromosome X in female mice and inferred miR-505-3p as the functional gene. Read More

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http://dx.doi.org/10.1530/JOE-18-0533DOI Listing
December 2018
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The reported point centromeres of Scheffersomyces stipitis are retrotransposon LTRs.

Yeast 2018 Dec 17. Epub 2018 Dec 17.

UCD Conway Institute, School of Medicine, University College Dublin, Dublin 4, Ireland.

Point centromeres, found in some ascomycete yeasts such Saccharomyces cerevisiae, are very different in structure from the centromeres of other eukaryotes. They are tiny, non-repetitive, and contain only two short conserved sequence motifs. Until recently, point centromeres were thought to have a single evolutionary origin, in the budding yeast family Saccharomycetaceae. Read More

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http://dx.doi.org/10.1002/yea.3375DOI Listing
December 2018

Increasing the diagnostic yield of exome sequencing by copy number variant analysis.

PLoS One 2018 17;13(12):e0209185. Epub 2018 Dec 17.

Department of Genetics, University of North Carolina, Chapel Hill, NC, United States of America.

As whole exome sequencing (WES) becomes more widely used in the clinical realm, a wealth of unanalyzed information will be routinely generated. Using WES read depth data to predict copy number variation (CNV) could extend the diagnostic utility of this previously underutilized data by providing clinically important information such as previously unsuspected deletions or duplications. We evaluated ExomeDepth, a free R package, in addition to an aneuploidy prediction method, to detect CNVs in WES data. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0209185PLOS
December 2018

Genome-wide association mapping of spot blotch resistance in wheat association mapping initiative (WAMI) panel of spring wheat (Triticum aestivum L.).

PLoS One 2018 17;13(12):e0208196. Epub 2018 Dec 17.

International Maize and Wheat Improvement Center (CIMMYT), DPS Marg, New Delhi, India.

Spot blotch (SB) caused by Bipolaris sorokiniana, is one of the most important diseases of wheat in the eastern part of south Asia causing considerable yield loss to the wheat crop. There is an urgent need to identify genetic loci closely associated with resistance to this pathogen for developing resistant cultivars. Hence, genomic regions responsible for SB resistance were searched using a wheat association mapping initiative (WAMI) panel involving 287 spring wheat genotypes of different origin. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0208196PLOS
December 2018
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Chromosome analysis using benchtop flow analysers and high speed cell sorters.

Cytometry A 2018 Dec 17. Epub 2018 Dec 17.

Cytometry Core Facility, Wellcome Sanger Institute, Cambridge, CB10 1SA, UK.

The use of the DNA dyes Hoechst (HO) and chromomycin A3 (CA3) has become the preferred combination for the bivariate analysis of chromosomes from both human and animals. This analysis requires a flow cytometer equipped with lasers of specific wavelength and of higher power than is typical on a conventional bench top flow cytometer. In this study, we have investigated the resolution of chromosome peaks in a human cell line with normal flow karyotype using different combinations of DNA dyes on a number of flow cytometers available in a flow cytometry core facility. Read More

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http://dx.doi.org/10.1002/cyto.a.23692DOI Listing
December 2018

Gene networks orchestrated by MeGI: a single-factor mechanism underlying sex determination in persimmon.

Plant J 2018 Dec 17. Epub 2018 Dec 17.

Graduate School of Agriculture, Kyoto University, Kyoto, 606-8502, Japan.

Separating male and female sex organs is one of the main strategies used to maintain genetic diversity within a species. However, the genetic determinants and their regulatory mechanisms have been identified in only a few species. In dioecious persimmons, the homeodomain transcription factor, MeGI, which is the target of a Y chromosome-encoded small-RNA, OGI, can determine floral sexuality. Read More

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http://doi.wiley.com/10.1111/tpj.14202
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http://dx.doi.org/10.1111/tpj.14202DOI Listing
December 2018
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GAS5 promotes podocyte injury in sepsis by inhibiting PTEN expression.

Eur Rev Med Pharmacol Sci 2018 Dec;22(23):8423-8430

Intensive Care Unit, The First Affiliated Hospital, Zhengzhou University, Zhengzhou, China.

Objective: To investigate the potential role of long noncoding RNA (lncRNA) growth arrest specific transcript 5 (GAS5) in sepsis-induced podocyte injury and its underlying mechanism.

Materials And Methods: The sepsis model was established by lipopolysaccharide (LPS) induction in podocytes. The expression levels of Nephrin and GAS5 were detected by quantitative Real-time polymerase chain reaction (qRT-PCR) after LPS induction in podocytes for 12 h, 24 h and 36 h, respectively. Read More

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December 2018

Pervasive transcription fine-tunes replication origin activity.

Elife 2018 Dec 17;7. Epub 2018 Dec 17.

Institut Jacques Monod, CNRS UMR 7592, Université Paris-Diderot, Paris, France.

RNA polymerase (RNAPII) transcription occurs pervasively, raising the important question of its functional impact on other DNA-associated processes, including replication. In budding yeast, replication originates from Autonomously Replicating Sequences (ARSs), generally located in intergenic regions. The influence of transcription on ARSs function has been studied for decades, but these earlier studies have neglected the role of non-annotated transcription. Read More

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http://dx.doi.org/10.7554/eLife.40802DOI Listing
December 2018

Newborn screening for Prader-Willi syndrome is feasible: Early diagnosis for better outcomes.

Am J Med Genet A 2018 Dec 17. Epub 2018 Dec 17.

Department of Pediatrics, Division of Genetics and Metabolism, University of California, Irvine, California.

Prader-Willi syndrome (PWS), is a complex genetic disease affecting 1/15,000 individuals, characterized by lack of expression of genes on the paternal chromosome 15q11-q13 region. Clinical features include central hypotonia, poor suck, learning and behavior problems, growth hormone deficiency with short stature, hyperphagia, and morbid obesity. Despite significant advances in genetic testing, the mean age for diagnosis in PWS continues to lag behind. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.60681
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http://dx.doi.org/10.1002/ajmg.a.60681DOI Listing
December 2018
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A case-control genome wide association study of substance use disorder (SUD) identifies novel variants on chromosome 7p14.1 in patients from the United Arab Emirates (UAE).

Am J Med Genet B Neuropsychiatr Genet 2018 Dec 16. Epub 2018 Dec 16.

School of Psychiatry and Clinical Neurosciences, The University of Western Australia, Crawley, Western Australia, Australia.

Genome wide association studies (GWASs) have provided insights into the molecular basis of the disorder in different population. This study presents the first GWAS of substance use disorder (SUD) in patients from the United Arab Emirates (UAE). The aim was to identify genetic association(s) that may provide insights into the molecular basis of the disorder. Read More

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http://dx.doi.org/10.1002/ajmg.b.32708DOI Listing
December 2018