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https://www.readbyqxmd.com/read/28811388/hill-robertson-interference-reduces-genetic-diversity-on-a-young-plant-y-chromosome
#1
Josh Hough, Wei Wang, Spencer C H Barrett, Stephen I Wright
X and Y chromosomes differ in effective population size (Ne ), rates of recombination, and exposure to natural selection, all of which can affect patterns of genetic diversity. On Y chromosomes with suppressed recombination, natural selection is expected to eliminate linked neutral variation and lower the Ne of Y compared to X chromosomes or autosomes. However, female-biased sex ratios and high variance in male reproductive success can also reduce Y-linked Ne , making it difficult to infer the causes of low Y-diversity...
August 15, 2017: Genetics
https://www.readbyqxmd.com/read/28810293/-comparative-study-of-three-different-decalcifying-solutions-in-bone-metastasis-specimens-with-breast-cancer
#2
H Y Wu, T Wang, K L Chen, Z W Fan, X H Pu, B Zhang, X S Fan, F Q Meng
Objective: To investigate the optimal strategy for immunohistochemical (IHC) staining in bone metastasis specimens from breast cancer. Methods: Twenty-eight bone metastases specimens from breast cancers were divided into three groups and subjected to different decalcifying agents (group A-10% nitrate, group B-EDTA decalcification, and group C-imported decalcifying solution RapidCal). The effects of those on HE and IHC staining for Ki-67, ER, PR, GATA3, RANK, RANKL, HER2 and HER2 FISH results were assessed. Results: There were no significant differences among three groups in HE morphology and IHC staining...
August 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/28810240/efficient-statistical-method-for-association-analysis-of-x-linked-variants
#3
Heejin Jin, Taesung Park, Sungho Won
BACKGROUND/AIMS: Unlike the gene-poor Y chromosome, the X chromosome contains over 1,000 genes that are essential for viability of cells. Females have 2 X chromosomes, and thus female X-linked gene expression would be expected to be twice that of males. To adjust this imbalance, one of the 2 X-linked genes is often inactivated, and this is known as X-chromosome inactivation (XCI). However, recent studies described that a gene can be nonrandomly selected for inactivation from 2 X-linked genes and that XCI is not observed in some X-linked genes...
August 16, 2017: Human Heredity
https://www.readbyqxmd.com/read/28806168/mapping-the-mouse-allelome-reveals-tissue-specific-regulation-of-allelic-expression
#4
Daniel Andergassen, Christoph P Dotter, Daniel Wenzel, Verena Sigl, Philipp C Bammer, Markus Muckenhuber, Daniela Mayer, Tomasz M Kulinski, Hans-Christian Theussl, Josef M Penninger, Christoph Bock, Denise P Barlow, Florian M Pauler, Quanah J Hudson
To determine the dynamics of allelic-specific expression during mouse development, we analyzed RNA-seq data from 23 F1 tissues from different developmental stages, including 19 female tissues allowing X chromosome inactivation (XCI) escapers to also be detected. We demonstrate that allelic expression arising from genetic or epigenetic differences is highly tissue-specific. We find that tissue-specific strain-biased gene expression may be regulated by tissue-specific enhancers or by post-transcriptional differences in stability between the alleles...
August 14, 2017: ELife
https://www.readbyqxmd.com/read/28801976/implications-of-fetoplacental-mosaicism-on-cell-free-dna-testing-for-sex-chromosome-aneuploidies
#5
Francesca Romana Grati, Komal Bajaj, Valentina Zanatta, Francesca Malvestiti, Barbara Malvestiti, Livia Marcato, Beatrice Grimi, Federico Maggi, Giuseppe Simoni, Susan J Gross, Jose Ferreira
OBJECTIVE: The unique biological behavior of sex chromosomes has implications for cell-free DNA (cfDNA) testing. Our purpose is to predict the i) false positive/negative rates (FPR/FNR) of cfDNA testing consequent to feto-placental mosaicism for any sex chromosome anomaly (SCA) ii) positive (PPV) and negative predictive values (NPV) of a high- and low-risk cfDNA result for any SCA. METHOD: Retrospective analysis of 67030 chorionic villus sampling (CVS) karyotypes, including feto-placental mosaicism cases...
August 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28801450/genomic-analysis-of-hairy-cell-leukemia-identifies-novel-recurrent-genetic-alterations
#6
Benjamin H Durham, Bartlomiej Getta, Sascha Dietrich, Justin Taylor, Helen Won, James M Bogenberger, Sasinya Scott, Eunhee Kim, Young Rock Chung, Stephen S Chung, Jennifer Hüllein, Tatjana Walther, Lu Wang, Sydney X Lu, Christopher C Oakes, Raoul Tibes, Torsten Haferlach, Barry S Taylor, Martin S Tallman, Michael F Berger, Jae H Park, Thorsten Zenz, Omar Abdel-Wahab
Classical hairy cell leukemia (cHCL) is characterized by a near 100% frequency of the BRAFV600E mutation while ~30% of variant HCL (vHCL) have MAP2K1 mutations. However, recurrent genetic alterations cooperating with BRAFV600E or MAP2K1 mutations in HCL, as well as those in MAP2K1- wildtype vHCL, are not well defined. We therefore performed deep targeted mutational and copy number analysis of cHCL (n=53) and vHCL (n=8). The most common genetic alteration in cHCL outside of BRAFV600E was heterozygous loss of chromosome 7q, the minimally deleted region of which targeted wildtype BRAF, subdividing cHCL into those hemizygous versus heterozygous for the BRAFV600E mutation...
August 11, 2017: Blood
https://www.readbyqxmd.com/read/28798311/genomic-regions-and-genes-related-to-inter-population-differences-in-body-size-in-the-ground-beetle-carabus-japonicus
#7
Ryohei Komurai, Tomochika Fujisawa, Yutaka Okuzaki, Teiji Sota
Body size is a key trait in diversification among animal species, and revealing the gene regions responsible for body size diversification among populations or related species is important in evolutionary biology. We explored the genomic regions associated with body size differences in Carabus japonicus ground beetle populations by quantitative trait locus (QTL) mapping of F2 hybrids from differently sized parents from two populations using restriction site-associated DNA sequencing and de novo assembly of the beetle whole genome...
August 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28797703/preimplantation-genetic-diagnosis-of-x-linked-charcot-marie-tooth-disease-by-indirect-linkage-analysis
#8
Irena Borgulová, Martina Putzová, Inna Soldatova, David Stejskal
OBJECTIVE: To present methodical approach of preimplantation genetic diagnosis (PGD) as an option for an unaffected pregnancy in reproductive-age couples who have a genetic risk of the X-linked dominant peripheral neuropathy Charcot-Marie-Tooth type 1 disease. PATIENTS AND METHODS: We performed PGD of X-linked Charcot-Marie-Tooth type 1 disease using haplotyping/indirect linkage analysis, when during analysis we reach to exclude embryos that carry a high-risk haplotype linked to the causal mutation p...
August 7, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28797153/-chorionic-villus-cell-culture-and-karyotype-analysis-in-1-983-cases-of-spontaneous-miscarriage
#9
S M Yuan, C Liao, D Z Li, J Z Huang, S Y Hu, M Ke, H Z Zhong, C X Yi
Objective: To investigate the relationship between spontaneous miscarriage and embryonic chromosome abnormalities, and to evaluate the clinical application of karyotype analysis by chorionic villus cell culture. Methods: The chorionic villus karyotype of 1 983 cases of miscarriage from January 2010 to July 2016 in Guangzhou Women and Children's Mecical Center were analyzed retrospectively. The miscarried chorionic villi were obtained by curettage under sterilized condition. The chromosome specimens were prepared after chorionic villus cell culture...
July 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/28796844/genome-wide-identification-of-autosomal-genes-with-allelic-imbalance-of-chromatin-state
#10
Andrej J Savol, Peggy I Wang, Yesu Jeon, David Colognori, Eda Yildirim, Stefan F Pinter, Bernhard Payer, Jeannie T Lee, Ruslan I Sadreyev
In mammals, monoallelic gene expression can result from X-chromosome inactivation, genomic imprinting, and random monoallelic expression (RMAE). Epigenetic regulation of RMAE is not fully understood. Here we analyze allelic imbalance in chromatin state of autosomal genes using ChIP-seq in a clonal cell line. We identify approximately 3.7% of autosomal genes that show significant differences between chromatin states of two alleles. Allelic regulation is represented among several functional gene categories including histones, chromatin modifiers, and multiple early developmental regulators...
2017: PloS One
https://www.readbyqxmd.com/read/28796536/x-chromosome-encoded-micrornas-are-functionally-increased-in-cystic-fibrosis-monocytes
#11
Paul J McKiernan, Kevin P Molloy, Sally A Cryan, Noel G McElvaney, Catherine M Greene
No abstract text is available yet for this article.
August 10, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28796413/complex-genetic-control-of-lung-tumorigenesis-in-resistant-mice-strains
#12
Alice Dassano, Giulia Pintarelli, Chiara E Cotroneo, Angela Pettinicchio, Elena Forcati, Loris De Cecco, Andrea Borrego, Francesca Colombo, Tommaso A Dragani, Giacomo Manenti
The SM/J mouse strain is resistant to chemically induced lung tumorigenesis despite having a haplotype, in the pulmonary adenoma susceptibility locus (Pas1) locus, that confers tumor susceptibility in other strains. To clarify this inconsistent genotype-phenotype correlation, we crossed SM/J mice with another resistant strain and did genome-wide linkage analysis in the (C57BL/6J x SM/J)F2 progeny exposed to urethane to induce lung tumors. Overall, >80% of F2 mice of both sexes developed from 1 to 20 lung tumors...
August 10, 2017: Cancer Science
https://www.readbyqxmd.com/read/28794991/correspondence-to-heterozygous-mutation-in-the-x-chromosomal-ndufa1-gene-in-a-girl-with-complex-i-deficiency-and-a-novel-ndufa1-mutation-leads-to-progressive-mitochondrial-complex-i-specific-neurodegenerative-disease
#13
https://www.readbyqxmd.com/read/28794910/first-report-of-two-rare-entities-in-a-family-49-xxxxy-and-45-x
#14
Yavuz Şahin, Aysegül Özcan
49,XXXXY and 45,X syndromes are sex chromosome aneuploidies in which the affected individuals present with hypergonadotropic hypogonadism, short or long stature, and skeletal malformations. Psychological, endocrinological, and orthopaedic disorders constitute the major problems in the clinical follow-up. We report a family with two rare entities: 49,XXXXY and 45, X. Sex chromosome abnormalities should especially be in mind in the evaluation of patients with micropenis, mental retardation, and hypergonadotropic hypogonadism...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28794482/the-white-gene-controls-copulation-success-in-drosophila-melanogaster
#15
Chengfeng Xiao, Shuang Qiu, R Meldrum Robertson
Characteristics of male courtship behavior in Drosophila melanogaster have been well-described, but the genetic basis of male-female copulation is largely unknown. Here we show that the white (w) gene, a classical gene for eye color, is associated with copulation success. 82.5% of wild-type Canton-S flies copulated within 60 minutes in circular arenas, whereas few white-eyed mutants mated successfully. The w (+) allele exchanged to the X chromosome or duplicated to the Y chromosome in the white-eyed genetic background rescued the defect of copulation success...
August 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28794204/chromosome-topology-guides-the-drosophila-dosage-compensation-complex-for-target-gene-activation
#16
Tamás Schauer, Yad Ghavi-Helm, Tom Sexton, Christian Albig, Catherine Regnard, Giacomo Cavalli, Eileen Em Furlong, Peter B Becker
X chromosome dosage compensation in Drosophila requires chromosome-wide coordination of gene activation. The male-specific lethal dosage compensation complex (DCC) identifies and binds to X-chromosomal high-affinity sites (HAS) from which it boosts transcription. A sub-class of HAS, PionX sites, represent first contacts on the X. Here, we explored the chromosomal interactions of representative PionX sites by high-resolution 4C and determined the global chromosome conformation by Hi-C in sex-sorted embryos. Male and female X chromosomes display similar nuclear architecture, concordant with clustered, constitutively active genes...
August 9, 2017: EMBO Reports
https://www.readbyqxmd.com/read/28794032/recombinant-origins-of-pathogenic-and-nonpathogenic-mouse-gammaretroviruses-of-polytropic-host-range
#17
Devinka Bamunusinghe, Qingping Liu, Ronald Plishka, Michael A Dolan, Matthew Skorski, Andrew J Oler, Venkat R K Yedavalli, Alicia Buckler-White, Janet W Hartley, Christine A Kozak
Ecotropic, xenotropic and polytropic mouse leukemia viruses (E-, X-, P-MLVs) exist in mice as infectious viruses and endogenous retroviruses (ERVs) inserted into mouse chromosomes. All 3 MLV subgroups are linked to leukemogenesis, which involves generation of recombinants with polytropic host range. Although P-MLVs are deemed to be the proximal agents of disease induction, few biologically characterized infectious P-MLVs have been sequenced for comparative analysis. We analyzed the complete genomes of 16 naturally occurring infectious P-MLVs, 12 of which were typed for pathogenic potential...
August 9, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28792998/validation-of-qf-pcr-for-prenatal-diagnoses-in-a-brazilian-population
#18
Renata Wendel de Moraes, Mario Henrique Burlacchini de Carvalho, Antonio Gomes de Amorim-Filho, Rossana Pulcineli Vieira Francisco, Renata Moscolini Romão, José Eduardo Levi, Marcelo Zugaib
OBJECTIVES: Quantitative fluorescence polymerase chain reaction (QF-PCR) is a rapid and reliable method for screening aneuploidies, but in Brazil, it is not used in public services. We investigated the accuracy of QF-PCR for the prenatal recognition of common aneuploidies and compared these results with cytogenetic results in our laboratory. METHOD: A ChromoQuant QF-PCR kit containing 24 primer pairs targeting loci on chromosomes 21, 13, 18, X and Y was employed to identify aneuploidies of the referred chromosomes...
July 2017: Clinics
https://www.readbyqxmd.com/read/28792980/evolutionary-implications-of-heterochromatin-and-rdna-in-chromosome-number-and-genome-size-changes-during-dysploidy-a-case-study-in-reichardia-genus
#19
Sonja Siljak-Yakovlev, Bernard Godelle, Vlatka Zoldos, Joan Vallès, Teresa Garnatje, Oriane Hidalgo
In this study we showed that constitutive heterochromatin, GC-rich DNA and rDNA are implicated in chromosomal rearrangements during the basic chromosome number changing (dysploidy) in Reichardia genus. This small Mediterranean genus comprises 8-10 species and presents three basic chromosome numbers (x = 9, 8 and 7). To assess genome evolution and differentiation processes, studies were conducted in a dysploid series of six species: R. dichotoma, R. macrophylla and R. albanica (2n = 18), R. tingitana and R. gaditana (2n = 16), and R...
2017: PloS One
https://www.readbyqxmd.com/read/28790322/genomic-signatures-of-adaptive-introgression-from-european-mouflon-into-domestic-sheep
#20
Mario Barbato, Frank Hailer, Pablo Orozco-terWengel, James Kijas, Paolo Mereu, Pierangela Cabras, Raffaele Mazza, Monica Pirastru, Michael W Bruford
Mouflon (Ovis aries musimon) became extinct from mainland Europe after the Neolithic, but remnant populations from the Mediterranean islands of Corsica and Sardinia have been used for reintroductions across Europe since the 19(th)-century. Mouflon x sheep hybrids are larger-bodied than mouflon, potentially showing increased male reproductive success, but little is known about genomic levels of admixture, or about the adaptive significance of introgression between resident mouflon and local sheep breeds. Here we analysed Ovine medium-density SNP array genotypes of 92 mouflon from six geographic regions, along with data from 330 individuals of 16 domestic sheep breeds...
August 8, 2017: Scientific Reports
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