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https://www.readbyqxmd.com/read/27921326/correlation-of-genetic-results-with-testicular-histology-hormones-and-sperm-retrieval-in-nonobstructive-azoospermia-patients-with-testis-biopsy
#1
W Liu, X Gao, G Ma, L Yan, T Chen, T Li, R-M Yu, J-L Ma
To investigate the frequency and types of genetic results in different testicular histology of patients with nonobstructive azoospermia (NOA), and correlated with hormones and sperm retrieval (SR), a retrospective study was conducted in 286 Chinese NOA patients who underwent testis biopsy and 100 age-matched fertile men as the control group. Chromosome karyotype analyses were performed by the peripheral blood chromosome G-band detection method. Screening of Y chromosome microdeletions of azoospermia factor (AZF) region was performed by polymerase chain reaction (PCR) amplification of 11 sequence-tagged sites (STS)...
December 6, 2016: Andrologia
https://www.readbyqxmd.com/read/27920999/frequency-of-y-chromosome-microdeletions-among-iranian-infertile-men-with-azoospermia-and-severe-oligozoospermia-a-meta-analysis
#2
Ehsan Yousefi-Razin, Mohammad Javad Nasiri, Mir Davood Omrani
BACKGROUND: While multiple factors can contribute to male infertility, genetic factors, such as chromosomal disorders or Y-chromosome microdeletion, are responsible for about 10% of male infertility. Considering the role of Y-chromosome micro-deletions in men with oligozoospermia who volunteer for in vitro fertilization (IVF), the prevalence of such microdeletions in each particular community needs to be exactly determined. Hence, the present study attempted to analyze the available literature on the frequency of chromosome microdeletion among Iranian infertile men...
October 2016: Journal of Reproduction & Infertility
https://www.readbyqxmd.com/read/27918550/selective-y-centromere-inactivation-triggers-chromosome-shattering-in-micronuclei-and-repair-by-non-homologous-end-joining
#3
Peter Ly, Levi S Teitz, Dong H Kim, Ofer Shoshani, Helen Skaletsky, Daniele Fachinetti, David C Page, Don W Cleveland
Chromosome missegregation into a micronucleus can cause complex and localized genomic rearrangements known as chromothripsis, but the underlying mechanisms remain unresolved. Here we developed an inducible Y centromere-selective inactivation strategy by exploiting a CENP-A/histone H3 chimaera to directly examine the fate of missegregated chromosomes in otherwise diploid human cells. Using this approach, we identified a temporal cascade of events that are initiated following centromere inactivation involving chromosome missegregation, fragmentation, and re-ligation that span three consecutive cell cycles...
December 5, 2016: Nature Cell Biology
https://www.readbyqxmd.com/read/27918162/-mutations-in-genes-affecting-fertility-of-men-current-routine-laboratory-genetic-diagnostics-and-searching-for-more-dna-segments-and-genes-influencing-spermatogenesis
#4
I Hrdlička, B Chylíková, K Veselá, M Danková, M Janků, K Řežábek, R Mihalová, F Liška
OBJECTIVE: To present the results of molecular genetics analysis in men with reproductive disorders focusing on the DNA segments and genes which affect spermatogenesis. DESIGN: Original article. SETTING: Institute of Biology and Medical Genetics of the First Faculty of Medicine and General Teaching Hospital, Prague. METHODS: One hundred and twenty-three patients identified with a fertility disorder were screened for mutations of the CFTR gene...
2016: Ceská Gynekologie
https://www.readbyqxmd.com/read/27915034/atheroprotective-role-of-caveolin-1-and-enos-in-an-innovative-transplantation-model-is-mainly-mediated-by-local-effects
#5
Johannes Mierke, Marian Christoph, Christian Pfluecke, Stefanie Jellinghaus, Carsten Wunderlich, Ruth H Strasser, Karim Ibrahim, David M Poitz
Endothelial dysfunction is crucial in the initiation of atherosclerosis, which is associated with a lack of nitric oxide. The endothelial NO synthase (eNOS) is responsible for constitutive synthesis of NO and inhibited by caveolin-1 (Cav1). In the current study, we examined the influence on intima formation through single and combined deletion of eNOS and Cav1 with a focus on differentiation of local and systemic effects. A sex-mismatch transplantation of denudated aortae from female C57BL/6n (WT), Cav1(-/-), eNOS(-/-) and Cav1(-/-)/eNOS(-/-) (C/e(--/--)) mice in common carotid artery of male WT mice was performed...
November 30, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27909867/developmental-validation-of-the-homygene19-14y-system
#6
Weian Du, Ling Chen, Hong Liu, Pingming Qiu, Fayuan Li, Jing Gao, Yu Zhou, Bangchao Wang, Chao Liu
The HomyGene19+14Y System (HG19+14Y) is a PCR-based amplification kit that enables typing of 18 autosomal short tandem repeat (STR) loci (i.e., CSF1PO, D2S1338, D3S1358, D5S818, D6S1043, D7S820, D8S1179, D12S391, D13S317, D16S539, D18S51, D19S433, D21S11, FGA, Penta E, TPOX, TH01, vWA), 14 widely used Y chromosome STR (Y-STR) loci (Y_GATA_H4, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS438, DYS439, DYS456, DYS458, DYS635), and amelogenin. This multiplex system was designed for the simultaneous analysis of amelogenin-Y allele mutation, single-source searches, kinship (including familial searching), mixture profiles, international data sharing, and other forensic applications...
December 1, 2016: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/27908490/y-chromosomal-haplogroup-distribution-in-the-tuzla-canton-of-bosnia-and-herzegovina-a-concordance-study-using-four-different-in-silico-assignment-algorithms-based-on-y-str-data
#7
S Dogan, N Babic, C Gurkan, A Goksu, D Marjanovic, V Hadziavdic
Y-chromosomal haplogroups are sets of ancestrally related paternal lineages, traditionally assigned by the use of Y-chromosomal single nucleotide polymorphism (Y-SNP) markers. An increasingly popular and a less labor-intensive alternative approach has been Y-chromosomal haplogroup assignment based on already available Y-STR data using a variety of different algorithms. In the present study, such in silico haplogroup assignments were made based on 23-loci Y-STR data for 100 unrelated male individuals from the Tuzla Canton, Bosnia and Herzegovina (B&H) using the following four different algorithms: Whit Athey's Haplogroup Predictor, Jim Cullen's World Haplogroup & Haplogroup-I Subclade Predictor, Vadim Urasin's YPredictor and the NevGen Y-DNA Haplogroup Predictor...
November 1, 2016: Homo: Internationale Zeitschrift Für die Vergleichende Forschung Am Menschen
https://www.readbyqxmd.com/read/27903967/new-differentially-expressed-genes-and-differential-dna-methylation-underlying-refractory-epilepsy
#8
Xi Liu, Shu Ou, Tao Xu, Shiyong Liu, Jinxian Yuan, Hao Huang, Lu Qin, Hui Yang, Lifen Chen, Xinjie Tan, Yangmei Chen
Epigenetics underlying refractory epilepsy is poorly understood, especially in patients without distinctive genetic alterations. DNA methylation may affect gene expression in epilepsy without affecting DNA sequences. Herein, we analyzed genome-wide DNA methylation and gene expression in brain tissues of 10 patients with refractory epilepsy using methylated DNA immunoprecipitation linked with sequencing and mRNA Sequencing. Diverse distribution of differentially methylated genes was found in X chromosome, while differentially methylated genes appeared rarely in Y chromosome...
November 26, 2016: Oncotarget
https://www.readbyqxmd.com/read/27901293/live-birth-sex-ratios-and-father-s-geographic-origins-in-jerusalem-1964-1976
#9
J Groeger, M Opler, K Kleinhaus, M C Perrin, R Calderon-Margalit, O Manor, O Paltiel, D Conley, S Harlap, D Malaspina
OBJECTIVE: To examine whether ancestry influenced sex ratios of offspring in a birth cohort before parental antenatal sex selection influenced offspring sex. METHODS: We measured the sex ratio as the percent of males according to countries of birth of paternal and maternal grandfathers in 91,459 live births from 1964 to 1976 in the Jerusalem Perinatal Study. Confidence limits (CI) were computed based on an expected sex ratio of 1.05, which is 51.4% male. RESULTS: Of all live births recorded, 51...
November 30, 2016: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/27901042/transplanted-photoreceptor-precursors-transfer-proteins-to-host-photoreceptors-by-a-mechanism-of-cytoplasmic-fusion
#10
Mandeep S Singh, Jasmin Balmer, Alun R Barnard, Sher A Aslam, Daniela Moralli, Catherine M Green, Alona Barnea-Cramer, Isabel Duncan, Robert E MacLaren
Photoreceptor transplantation is a potential future treatment for blindness caused by retinal degeneration. Photoreceptor transplantation restores visual responses in end-stage retinal degeneration, but has also been assessed in non-degenerate retinas. In the latter scenario, subretinal transplantation places donor cells beneath an intact host outer nuclear layer (ONL) containing host photoreceptors. Here we show that host cells are labelled with the donor marker through cytoplasmic transfer-94±4.1% of apparently well-integrated donor cells containing both donor and host markers...
November 30, 2016: Nature Communications
https://www.readbyqxmd.com/read/27900418/rapid-microfluidic-analysis-of-a-y-str-multiplex-for-screening-of-forensic-samples
#11
Georgiana Gibson-Daw, Patricia Albani, Marcus Gassmann, Bruce McCord
In this paper, we demonstrate a rapid analysis procedure for use with a small set of rapidly mutating Y chromosomal short tandem repeat (Y-STR) loci that combines both rapid polymerase chain reaction (PCR) and microfluidic separation elements. The procedure involves a high-speed polymerase and a rapid cycling protocol to permit PCR amplification in 16 min. The resultant amplified sample is next analysed using a short 1.8-cm microfluidic electrophoresis system that permits a four-locus Y-STR genotype to be produced in 80 s...
November 30, 2016: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/27897175/accelerated-pseudogenization-on-the-neo-x-chromosome-in-drosophila-miranda
#12
Masafumi Nozawa, Kanako Onizuka, Mai Fujimi, Kazuho Ikeo, Takashi Gojobori
Y chromosomes often degenerate via the accumulation of pseudogenes and transposable elements. By contrast, little is known about X-chromosome degeneration. Here we compare the pseudogenization process between genes on the neo-sex chromosomes in Drosophila miranda and their autosomal orthologues in closely related species. The pseudogenization rate on the neo-X is much lower than the rate on the neo-Y, but appears to be higher than the rate on the orthologous autosome in D. pseudoobscura. Genes under less functional constraint and/or genes with male-biased expression tend to become pseudogenes on the neo-X, indicating the accumulation of slightly deleterious mutations and the feminization of the neo-X...
November 29, 2016: Nature Communications
https://www.readbyqxmd.com/read/27890097/forensic-genetic-study-of-29-y-strs-in-korean-population
#13
Ju Yeon Jung, Ji-Hye Park, Yu-Li Oh, Han-Sol Kwon, Hyun-Chul Park, Kyung-Hwa Park, Eun Hye Kim, Dong-Sub Lee, Si-Keun Lim
In this study, we compared two recently released commercial Y-chromosomal short tandem repeat (Y-STR) kits: the PowerPlex Y23 System (PPY23) and Yfiler® Plus PCR amplification kit (YPlus). We performed validation studies, including sensitivity, tolerance to PCR inhibitors, and mixture analysis, and a population genetics study using 306 unrelated South Korean males. PPY23 and YPlus showed similar sensitivity, but PPY23 showed higher tolerance to humic acid than YPlus. Furthermore, the detection rate of unique minor alleles called from male/male mixtures was higher for PPY23 than for YPlus...
November 2016: Legal Medicine
https://www.readbyqxmd.com/read/27889059/chad-genetic-diversity-reveals-an-african-history-marked-by-multiple-holocene-eurasian-migrations
#14
Marc Haber, Massimo Mezzavilla, Anders Bergström, Javier Prado-Martinez, Pille Hallast, Riyadh Saif-Ali, Molham Al-Habori, George Dedoussis, Eleftheria Zeggini, Jason Blue-Smith, R Spencer Wells, Yali Xue, Pierre A Zalloua, Chris Tyler-Smith
Understanding human genetic diversity in Africa is important for interpreting the evolution of all humans, yet vast regions in Africa, such as Chad, remain genetically poorly investigated. Here, we use genotype data from 480 samples from Chad, the Near East, and southern Europe, as well as whole-genome sequencing from 19 of them, to show that many populations today derive their genomes from ancient African-Eurasian admixtures. We found evidence of early Eurasian backflow to Africa in people speaking the unclassified isolate Laal language in southern Chad and estimate from linkage-disequilibrium decay that this occurred 4,750-7,200 years ago...
December 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27882599/46-xx-males-a-case-series-based-on-clinical-and-genetics-evaluation
#15
F Mohammadpour Lashkari, M Totonchi, M R Zamanian, Z Mansouri, M A Sadighi Gilani, M Sabbaghian, A Mohseni Meybodi
46,XX male sex reversal syndrome is one of the rarest sex chromosomal aberrations. The presence of SRY gene on one of the X chromosomes is the most frequent cause of this syndrome. Based on Y chromosome profile, there are SRY-positive and SRY-negative forms. The purpose of our study was to report first case series of Iranian patients and describe the different clinical appearances based on their genetic component. From the 8,114 azoospermic and severe oligozoospermic patients referred to Royan institute, we diagnosed 57 cases as sex reversal patients...
November 24, 2016: Andrologia
https://www.readbyqxmd.com/read/27879256/determination-and-regulation-of-body-composition-in-elite-athletes
#16
Peter Sonksen
In 2011, the International Association of Athletics Federations (IAAF) and IOC introduced a 'hyperandrogenism' rule that excluded women with a serum testosterone >10 nmol/L from participating in elite sport. This rule was based on the false premise that the greater lean body mass in men was a consequence of their higher serum testosterone. This rule did not have scientific backing and the Court of Arbitration for Sport subsequently rescinded the rule following an appeal from an Indian athlete barred from the Commonwealth Games...
November 22, 2016: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/27874309/abundance-and-characterization-of-perfect-microsatellites-on-the-cattle-y-chromosome
#17
Zhi-Jie Ma
Microsatellites or simple sequence repeats (SSRs) are found in most organisms and play an important role in genomic organization and function. To characterize the abundance of SSRs (1-6 base-pairs [bp]) on the cattle Y chromsome, the relative frequency and density of perfect or uninterrupted SSRs based on the published Y chromosome sequence were examined. A total of 17,273 perfect SSRs were found, with total length of 324.78 kb, indicating that approximately 0.75% of the cattle Y chromosome sequence (43.30 Mb) comprises perfect SSRs, with an average length of 18...
November 22, 2016: Animal Biotechnology
https://www.readbyqxmd.com/read/27870435/a-general-theory-of-sexual-differentiation
#18
REVIEW
Arthur P Arnold
A general theory of mammalian sexual differentiation is proposed. All biological sex differences are the result of the inequality in effects of the sex chromosomes, which are the only factors that differ in XX vs. XY zygotes. This inequality leads to male-specific effects of the Y chromosome, including expression of the testis-determining gene Sry that causes differentiation of testes. Thus, Sry sets up lifelong sex differences in effects of gonadal hormones. Y genes also act outside of the gonads to cause male-specific effects...
January 2, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/27870402/genetic-and-epigenetic-factors-underlying-sex-differences-in-the-regulation-of-gene-expression-in-the-brain
#19
REVIEW
Vikram S Ratnu, Michael R Emami, Timothy W Bredy
There are inherent biological differences between males and females that contribute to sex differences in brain function and to many sex-specific illnesses and disorders. Traditionally, it has been thought that such differences are due largely to hormonal regulation; however, there are also genetic and epigenetic effects caused by the inheritance and unequal dosage of genes located on the X and Y chromosomes. Here we discuss the evidence in favor of a genetic and epigenetic basis for sexually dimorphic behavior, as a consequence of underlying differences in the regulation of genes that drive brain function...
January 2, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/27869347/myb-transcription-factor-gene-involved-in-sex-determination-in-asparagus-officinalis
#20
Kohji Murase, Shuji Shigenobu, Sota Fujii, Kazuki Ueda, Takanori Murata, Ai Sakamoto, Yuko Wada, Katsushi Yamaguchi, Yuriko Osakabe, Keishi Osakabe, Akira Kanno, Yukio Ozaki, Seiji Takayama
Dioecy is a plant mating system in which individuals of a species are either male or female. Although many flowering plants evolved independently from hermaphroditism to dioecy, the molecular mechanism underlying this transition remains largely unknown. Sex determination in the dioecious plant Asparagus officinalis is controlled by X and Y chromosomes; the male and female karyotypes are XY and XX, respectively. Transcriptome analysis of A. officinalis buds showed that a MYB-like gene, Male Specific Expression 1 (MSE1), is specifically expressed in males...
November 21, 2016: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
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