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Y Chromosom

Xuehong Guo, Yan He, Xiuxiu Zhang, Chanjuan Wang, Ting Zhang, Zhizhong Guan
OBJECTIVE: To study the distribution of haplotypes of Y-chromosomal short tandem repeats (Y-STR) loci among three ethnic minorities from Guizhou, China. METHODS: Twenty four Y-STR loci of 174 unrelated males were amplified with a Microreader(TM)24Y Direct ID System kit. Capillary electrophoresis was carried out on an ABI 3100 Genetic Analyzer, and the data was analyzed with GeneMapper software. RESULTS: Seventy six haplotypes were identified for the 24 Y-STR loci among the three ethnic minorities, including 13 from the Qiangs, 35 from the Manchurians, and 28 from the Shes, with the corresponding Haplotype Diversity (HD) being 0...
August 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Junkun Chen, Liqin Hu, Jingzhen Yang, Ping Liu
OBJECTIVE: To detect numerical chromosomal aberrations and copy number variations (CNVs) in abortus tissue samples with a benchtop semiconductor sequencing platform (SSP). METHODS: One hundred and forty patients with early spontaneous abortions at between 7 and 16 weeks were selected. Following DNA extraction, library preparation, high-throughput sequencing was carried out. RESULTS: Chromosomal anomalies were detected in 82 cases (58.57%), which included 67 aneuploidies and 15 CNVs...
August 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Reiner A Veitia
Increasing levels of aneuploidy of the sex chromosomes in human lymphocytes with age have been noted for several decades. The percentage of chromosome Y loss can reach up to 1.5% or even more, whereas the levels of X0 cells in females can increase up to 5% with age. Here, I propose simple mathematical models of the dynamics of 'normal' sex chromosome loss with age. These exponential models provide more mechanistic insights than linear regressions. They account for the lower incidence of sex chromosome loss in young individuals and its increase with age...
August 10, 2018: European Journal of Human Genetics: EJHG
Hagai Y Shpigler, Michael C Saul, Emma E Murdoch, Frida Corona, Amy C Cash-Ahmed, Christopher H Seward, Sriram Chandrasekaran, Lisa J Stubbs, Gene E Robinson
Social interactions can be divided into two categories, affiliative and agonistic. How neurogenomic responses reflect these opposing valences is a central question in the biological embedding of experience. To address this question, we exposed honey bees to a queen larva, which evokes nursing, an affiliative alloparenting interaction, and measured the transcriptomic response of the mushroom body brain region at different times after exposure. Hundreds of genes were differentially expressed at distinct time points, revealing a dynamic temporal patterning of the response...
August 10, 2018: Genes, Brain, and Behavior
Ziad Jowhar, Sigal Shachar, Prabhakar R Gudla, Darawalee Wangsa, Erin Torres, Jill L Russ, Gianluca Pegoraro, Thomas Ried, Armin Raznahan, Tom Misteli
Sex chromosome aneuploidies (SCAs) are common genetic syndromes characterized by the presence of an aberrant number of X and Y chromosomes due to meiotic defects. These conditions impact structure and function of diverse tissues, but the proximal effects of SCA on genome organization are unknown. Here, to determine the consequences of SCAs on global genome organization, we have analyzed multiple architectural features of chromosome organization in a comprehensive set of primary cells from SCA patients with various ratios of X and Y chromosomes by use of imaging-based high-throughput Chromosome Territory Mapping (HiCTMap)...
August 9, 2018: Molecular Biology of the Cell
Lisa De Lorenzi, Silvana Arrighi, Debora Groppetti, Stefania Bonacina, Pietro Parma
In mammals, the regression of the müllerian ducts is regulated by the action of the AMH hormone which is produced by testes during embryonic development. The action of this hormone is mediated by the only known receptor AMHR2. Mutations occurring in the AHM hormone and/or in the AMHR2 receptor gene cause the lack of regression of müllerian ducts, which may therefore persist even in male embryos carrying a XY chromosomal arrangement. This is known as the persistent müllerian duct syndrome (PMDS). A female German Shepherd dog was referred to the veterinary clinic because of urinary incontinence...
August 8, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Mitsuaki Ogata, Max Lambert, Tariq Ezaz, Ikuo Miura
Sex-determining mechanisms change repeatedly throughout evolution and it is difficult to track this continual process. The Japanese soil-frog Glandirana rugosa is a remarkable evolutionary witness to the ongoing process of the evolution of sex-determining modes. The two geographic groups, designated XY and Neo-ZW, have homologous sex chromosomes, yet display opposite types of sex-chromosomes, XX-XY and ZZ-ZW, respectively. These two groups are sympatric at the edges of their respective ranges in Central Japan...
August 7, 2018: Molecular Ecology
Jinglin Zhang, Yuhang Zhou, Tingting Huang, Feng Wu, Yi Pan, Yujuan Dong, Yan Wang, Aden K Y Chan, Liping Liu, Johnny S H Kwan, Alvin H K Cheung, Chi Chun Wong, Angela K F Lo, Alfred S L Cheng, Jun Yu, Kwok Wai Lo, Wei Kang, Ka Fai To
Fibroblast growth factors (FGFs) and their receptors are significant components during fundamental cellular processes. FGF18 plays a distinctive role in modulating the activity of both tumor cells and tumor microenvironment. This study aims to comprehensively investigate the expression and functional role of FGF18 in gastric cancer (GC) and elucidate its regulatory mechanisms. The upregulation of FGF18 was detected in seven out of eleven (63.6%) GC cell lines. In primary GC samples, FGF18 was overexpressed in genomically stable and chromosomal instability subtypes of GC and its overexpression was associated with poor survival...
August 6, 2018: Oncogene
Anna Buchman, Omar S Akbari
Despite the importance of Y-chromosomes in evolution and sex determination, their heterochromatic, repeat-rich nature makes them difficult to sequence (due, in part, to ambiguities in sequence alignment and assembly) and to genetically manipulate, and therefore they generally remain poorly understood. For example, the D. melanogaster Y-chromosome, one of the most extensively studied Y-chromosomes, is widely heterochromatic and composed mainly of highly repetitive sequences, with only a handful of expressed genes scattered throughout its length...
August 6, 2018: Insect Molecular Biology
Gabriel J Sandoval, John L Pulice, Hubert Pakula, Monica Schenone, David Y Takeda, Marius Pop, Gaylor Boulay, Kaylyn E Williamson, Matthew J McBride, Joshua Pan, Roodolph St Pierre, Emily Hartman, Levi A Garraway, Steven A Carr, Miguel N Rivera, Zhe Li, Lucienne Ronco, William C Hahn, Cigall Kadoch
Chromosomal rearrangements resulting in the fusion of TMPRSS2, an androgen-regulated gene, and the ETS family transcription factor ERG occur in over half of prostate cancers. However, the mechanism by which ERG promotes oncogenic gene expression and proliferation remains incompletely understood. Here, we identify a binding interaction between ERG and the mammalian SWI/SNF (BAF) ATP-dependent chromatin remodeling complex, which is conserved among other oncogenic ETS factors, including ETV1, ETV4, and ETV5. We find that ERG drives genome-wide retargeting of BAF complexes in a manner dependent on binding of ERG to the ETS DNA motif...
July 19, 2018: Molecular Cell
Y L Guo, L Wang, S W Xue, S Z Qu, J Yang, H Xu, Z X Bai, N Liu, X D Kong
Objective: To investigate the value of single nucleotide polymorphism array (SNP-array) for fetuses with abnormal ultrasound findings. Method: A total of 904 fetuses with abnormal ultrasound findings were enrolled in this study from May 2015 to November 2017, and 434 (48.0%) cases received conventional karyotyping analysis at the same time. According to different abnormal ultrasound category, 904 cases were divided into 5 groups: 280 cases (31.0%) in single system structural anomalies, 31 cases (3.4%) in multiple system structural anomalies, 331 cases (36...
July 25, 2018: Zhonghua Fu Chan Ke za Zhi
L M Buschiazzo, D A Caraballo, E Cálcena, M L Longarzo, C A Labaroni, J M Ferro, M S Rossi, A D Bolzán, Cecilia Lanzone
The genus Ctenomys comprises about 70 species with great chromosome diversity. The Corrientes group is one of the most chromosomally variable lineages in the genus, where the diploid number (2n) varies from 41 to 70. In this group, three nominal species and numerous polymorphic and polytypic populations have been described. In order to get insight into the chromosomal evolution of this species complex, we applied different banding and molecular cytogenetic techniques. The results were interpreted in an evolutionary context, based on mitochondrial cytochrome b analyses...
August 3, 2018: Genetica
Mikkel Meyer Andersen, James Curran, Jacob de Zoete, Duncan Taylor, John Buckleton
Many methods have been suggested for evaluating the evidential value of a matching Y-chromosomal DNA profile obtained from a biological stain associated with a crime scene and the Y-chromosomal DNA profile of a suspect. Most of these methods are based on estimating the population frequency of the Y-profile. The common independence assumption between loci for autosomal DNA profiles cannot be used for Y-chromosomal DNA profiles. In this paper we reconsider the problem of population frequency estimation by application of Bayesian networks and the Chow-Liu algorithm to model dependencies between loci...
July 22, 2018: Forensic Science International. Genetics
Levi S Teitz, Tatyana Pyntikova, Helen Skaletsky, David C Page
Amplicons-large, highly identical segmental duplications-are a prominent feature of mammalian Y chromosomes. Although they encode genes essential for fertility, these amplicons differ vastly between species, and little is known about the selective constraints acting on them. Here, we develop computational tools to detect amplicon copy number with unprecedented accuracy from high-throughput sequencing data. We find that one-sixth (16.9%) of 1,216 males from the 1000 Genomes Project have at least one deleted or duplicated amplicon...
August 2, 2018: American Journal of Human Genetics
Kvetoslava Michalova, Petr Steiner, Reza Alaghehbandan, Kiril Trpkov, Petr Martinek, Petr Grossmann, Delia Perez Montiel, Maris Sperga, Lubomir Straka, Kristyna Prochazkova, Dana Cempirkova, Vladimir Horava, Stela Bulimbasic, Kristyna Pivovarcikova, Ondrej Daum, Ondrej Ondic, Pavla Rotterova, Michal Michal, Milan Hora, Ondrej Hes
BACKGROUND: We present a series of papillary renal cell carcinomas (PRCC) reminiscent of so-called "oncocytic variant of papillary renal cell carcinoma" (OPRCC), included in the 2016 WHO classification as a potential type 3 PRCC. OPRCC is a poorly understood entity, cytologically characterized by oncocytic cells with non-overlapping low grade nuclei. OPRCC is not genotypically distinct and the studies concerning this variant have shown an inconsistent genetic profile. The tumors presented herein demonstrated predominantly papillary/tubulopapillary architecture and differed from OPRCC by pseudostratification and grade 2-3 nuclei (Fuhrman/ISUP)...
August 2018: Annals of Diagnostic Pathology
Julie Di Cristofaro, Stéphane Mazières, Audrey Tous, Cornelia Di Gaetano, Alice A Lin, Paul Nebbia, Alberto Piazza, Roy J King, Peter Underhill, Jacques Chiaroni
The rarity of human remains makes it difficult to apprehend the first settlements in Corsica. It is admitted that initial colonization could have occurred during the Mesolithic period when glaciations would have shortened the open water travel distance from the continent. Mesolithic sites in Corsica show relatively short and irregular occupation, and suggest discontinuous settling of very mobile groups probably traveling by boat. Previous genetic studies on Corsican populations showed internal differentiation and a relatively poor genetic relationship with continental populations, despite intense historical contacts, however local Mesolithic-based genetic inheritance has never been properly estimated...
2018: PloS One
Sofiane Y Mersaoui, Raymund J Wellinger
Chromosome stability relies on an adequate length and complete replication of telomeres, the physical ends of chromosomes. Telomeres are composed of short direct repeat DNA and the associated nucleoprotein complex is essential for providing end-stability. In addition, the so-called end-replication problem of the conventional replication requires that telomeres be elongated by a special mechanism which, in virtually all organisms, is based by a reverse transcriptase, called telomerase. Although, at the conceptual level, telomere functions are highly similar in most organisms, the telomeric nucleoprotein composition appears to diverge significantly, in particular if it is compared between mammalian and budding yeast cells...
July 31, 2018: Current Genetics
Himanshu S Raje, Molly E Lieux, Patrick J DiMario
The ribosomal RNA genes (rDNA) of Drosophila melanogaster reside within centromere-proximal nucleolar organizers on both the X and Y chromosomes. Each locus contains between 200-300 tandem repeat rDNA units that encode 18S, 5.8S, 2S, and 28S ribosomal RNAs (rRNAs) necessary for ribosome biogenesis. In arthropods like Drosophila, about 60% of the rDNA genes have R1 and/or R2 retrotransposons inserted at specific sites within their 28S regions; these units likely fail to produce functional 28S rRNA. We showed earlier that R2 expression increases upon nucleolar stress caused by the loss of the ribosome assembly factor, Nucleolar Phosphoprotein of 140 kDa (Nopp140)...
July 31, 2018: Transcription
Qian Wang, Bo Jin, Gang An, Qian Zhong, Meijun Chen, Xiaoying Luo, Zhilong Li, Youjing Jiang, Weibo Liang, Lin Zhang
Y-chromosomal short tandem repeats (Y-STRs) have been widely used in forensic analysis and population genetics. With low to moderate mutation rates, conventional Y-STR panels, including commercially available Y-STR kits, enable the identification of male pedigrees but typically fail to differentiate related male individuals. The introduction of rapidly mutating Y-chromosomal short tandem repeats (RM Y-STRs) with higher mutation rates (μ > 10-2 ) has been demonstrated to increase the discrimination capacity of unrelated men and the differentiation rate of related men compared with standard Y-STRs...
July 30, 2018: International Journal of Legal Medicine
Chih-Chun Yeh, Ching-Jin Chang, Yuh-Ching Twu, Chen-Chung Chu, Bi-Shan Liu, Ji-Ting Huang, Shu-Ting Hung, Yung-Syu Chan, Yi-Jui Tsai, Sheng-Wei Lin, Marie Lin, Lung-Chih Yu
The Xga and CD99 antigens of the human Xg blood group system show a unique and sex-specific phenotypic relationship. The phenotypic relationship is believed to result from transcriptional coregulation of the XG and CD99 genes, which span the pseudoautosomal boundary of the X and Y chromosomes. However, the molecular genetic background responsible for these blood groups has remained undetermined. During the present investigation, we initially conducted a pilot study aimed at individuals with different Xga /CD99 phenotypes; this used targeted next-generation sequencing of the genomic areas relevant to XG and CD99 This was followed by a large-scale association study that demonstrated a definite association between a single nucleotide polymorphism (SNP) rs311103 and the Xga /CD99 blood groups...
August 14, 2018: Blood Advances
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