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https://www.readbyqxmd.com/read/28430968/sex-chromosome-dependent-differential-viability-of-human-spermatozoa-during-prolonged-incubation
#1
Young-Ah You, Woo-Sung Kwon, Md Saidur Rahman, Yoo-Jin Park, Young-Ju Kim, Myung-Geol Pang
STUDY QUESTION: Are there significant differences in the ability of X chromosome-bearing (X) spermatozoa and Y chromosome-bearing (Y) spermatozoa to survive incubation under stressful conditions? SUMMARY ANSWER: Y spermatozoa are more vulnerable to stress than their X counterparts depending on culture period and temperature, and show higher expression of apoptotic proteins. WHAT IS KNOWN ALREADY: The primary sex ratio is determined by there being an equal number of spermatozoa carrying X and Y chromosomes...
April 19, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28427323/detection-of-qtl-for-traits-related-to-adaptation-to-sub-optimal-climatic-conditions-in-chickens
#2
Ching-Yi Lien, Michèle Tixier-Boichard, Shih-Wen Wu, Woei-Fuh Wang, Chen Siang Ng, Chih-Feng Chen
BACKGROUND: Growth traits can be used as indicators of adaptation to sub-optimal conditions. The current study aimed at identifying quantitative trait loci (QTL) that control performance under variable temperature conditions in chickens. METHODS: An F2 population was produced by crossing the Taiwan Country chicken L2 line (selected for body weight, comb area, and egg production) with an experimental line of Rhode Island Red layer R- (selected for low residual feed consumption)...
April 20, 2017: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/28424864/loss-of-chromosome-y-loy-in-blood-cells-is-associated-with-increased-risk-for-disease-and-mortality-in-aging-men
#3
REVIEW
Lars A Forsberg
Recent discoveries have shown that harboring cells without the Y chromosome in the peripheral blood is associated with increased risk for all-cause mortality and disease such as different forms of cancer, Alzheimer's disease, as well as other conditions in aging men. In the entire world, the life expectancy of men is shorter compared to women, a sex difference that has been known for centuries, but the underlying mechanism(s) are not well understood. As a male-specific genetic risk factor, an increased risk for pathology and mortality associated with mosaic loss of chromosome Y (LOY) in blood cells could help to explain that men on average live shorter lives compared to women...
April 19, 2017: Human Genetics
https://www.readbyqxmd.com/read/28423547/genomic-imbalances-are-involved-in-mir-30c-and-let-7a-deregulation-in-ovarian-tumors-implications-for-hmga2-expression
#4
Antonio Agostini, Marta Brunetti, Ben Davidson, Claes G Tropé, Sverre Heim, Ioannis Panagopoulos, Francesca Micci
The High-mobility group AT-hook 2 protein (HMGA2) is involved in different processes during tumorigenesis. High expression levels of HMGA2 are found in various types of cancer, with recent studies highlighting the important role of miRNAs in the regulation of HMGA2 expression. We report a study of 155 ovarian tumors (30 sex-cord stromal tumors, 22 borderline tumors, and 103 carcinomas) analyzed for HMGA2 expression as well as the expression of two miRNAs targeting this gene, let-7a and miR-30c. We also evaluated the expression of the fragile histidine triad (FHIT) and lin28 homologues (LIN28A/B) genes which are known to be an enhancer of miR-30c expression and a repressor of let-7a, respectively...
March 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28422154/integration-of-liver-gene-co-expression-networks-and-egwas-analyses-highlighted-candidate-regulators-implicated-in-lipid-metabolism-in-pigs
#5
Maria Ballester, Yuliaxis Ramayo-Caldas, Manuel Revilla, Jordi Corominas, Anna Castelló, Jordi Estellé, Ana I Fernández, Josep M Folch
In the present study, liver co-expression networks and expression Genome Wide Association Study (eGWAS) were performed to identify DNA variants and molecular pathways implicated in the functional regulatory mechanisms of meat quality traits in pigs. With this purpose, the liver mRNA expression of 44 candidates genes related with lipid metabolism was analysed in 111 Iberian x Landrace backcross animals. The eGWAS identified 92 eSNPs located in seven chromosomal regions and associated with eight genes: CROT, CYP2U1, DGAT1, EGF, FABP1, FABP5, PLA2G12A, and PPARA...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28419558/age-but-not-philadelphia-positivity-impairs-outcome-in-older-elderly-patients-with-acute-lymphoblastic-leukemia-in-sweden
#6
Piotr Kozlowski, Emma Lennmyr, Lucia Ahlberg, Per Bernell, Erik Hulegårdh, Holger Karbach, Karin Karlsson, Beata Tomaszewska-Toporska, Maria Åström, Heléne Hallböök
OBJECTIVES: Older/elderly patients with acute lymphoblastic leukemia (ALL) are poorly represented in clinical trials. METHODS: Using Swedish national leukemia registries, we investigated disease/patient characteristics, treatment choices, outcome, and the impact of an age-adapted protocol (introduced in 2009) in this population-based study of patients aged 55-85 years, diagnosed with ALL 2005-2012. RESULTS: Of 174 patients, 82% had B-phenotype, 11% Burkitt leukemia (excluded), and 7% T-phenotype...
April 18, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28418321/s100a10-identified-in-a-genome-wide-gene-%C3%A3-cannabis-dependence-interaction-analysis-of-risky-sexual-behaviours
#7
Renato Polimanti, Shashwath A Meda, Godfrey D Pearlson, Hongyu Zhao, Richard Sherva, Lindsay A Farrer, Henry R Kranzler, Joel Gelernter
BACKGROUND: We conducted a genome-wide gene × environment interaction analysis to identify genetic variants that interact with cannabis dependence (CaD) in influencing risky sexual behaviours (RSB). METHODS: Our sample included cannabis-exposed and sexually experienced African-American and European-American participants. A DSM-IV CaD diagnosis and RSB were evaluated using the Semi-Structured Assessment for Drug Dependence and Alcoholism. We analyzed RSBs as a score that takes into account experiences of unprotected sex and multiple sexual partners...
April 13, 2017: Journal of Psychiatry & Neuroscience: JPN
https://www.readbyqxmd.com/read/28417969/massive-introgression-drives-species-radiation-at-the-range-limit-of-anopheles-gambiae
#8
José L Vicente, Christopher S Clarkson, Beniamino Caputo, Bruno Gomes, Marco Pombi, Carla A Sousa, Tiago Antao, João Dinis, Giordano Bottà, Emiliano Mancini, Vincenzo Petrarca, Daniel Mead, Eleanor Drury, James Stalker, Alistair Miles, Dominic P Kwiatkowski, Martin J Donnelly, Amabélia Rodrigues, Alessandra Della Torre, David Weetman, João Pinto
Impacts of introgressive hybridisation may range from genomic erosion and species collapse to rapid adaptation and speciation but opportunities to study these dynamics are rare. We investigated the extent, causes and consequences of a hybrid zone between Anopheles coluzzii and Anopheles gambiae in Guinea-Bissau, where high hybridisation rates appear to be stable at least since the 1990s. Anopheles gambiae was genetically partitioned into inland and coastal subpopulations, separated by a central region dominated by A...
April 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28413602/do-sex-differences-in-ceoaes-and-2d-4d-ratios-reflect-androgen-exposure-a-study-in-women-with-complete-androgen-insensitivity-syndrome
#9
Judy van Hemmen, Peggy T Cohen-Kettenis, Thomas D Steensma, Dick J Veltman, Julie Bakker
BACKGROUND: Studies investigating the influence of perinatal hormone exposure on sexually differentiated traits would greatly benefit from biomarkers of these early hormone actions. Click-evoked otoacoustic emissions show sex differences that are thought to reflect differences in early androgen exposure. Women with complete androgen insensitivity syndrome (CAIS), who lack androgen action in the presence of XY-chromosomes, enabled us to study the effect of complete androgen inaction. The main goal was to investigate a possible link between click-evoked otoacoustic emissions and effective androgen exposure and, thus, whether this can be used as a biomarker...
2017: Biology of Sex Differences
https://www.readbyqxmd.com/read/28412934/karyotype-diversity-and-chromosomal-organization-of-repetitive-dna-in-tityus-obscurus-scorpiones-buthidae
#10
Bruno Rafael Ribeiro de Almeida, Susana Suely Rodrigues Milhomem-Paixão, Renata Coelho Rodrigues Noronha, Cleusa Yoshiko Nagamachi, Marlyson Jeremias Rodrigues da Costa, Pedro Pereira de Oliveira Pardal, Johne Souza Coelho, Julio Cesar Pieczarka
BACKGROUND: Holocentric chromosomes occur in approximately 750 species of eukaryotes. Among them, the genus Tityus (Scorpiones, Buthidae) has a labile karyotype that shows complex multivalent associations during male meiosis. Thus, taking advantage of the excellent model provided by the Buthidae scorpions, here we analyzed the chromosomal distribution of several repetitive DNA classes on the holocentric chromosomes of different populations of the species Tityus obscurus Gervais, 1843, highlighting their involvement in the karyotypic differences found among them...
April 17, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28409418/polymorphisms-in-cars-are-associated-with-gastric-cancer-risk-a-two-stage-case-control-study-in-the-chinese-population
#11
Tian Tian, Ling Xiao, Jiangbo Du, Xun Zhu, Yayun Gu, Na Qin, Caiwang Yan, Li Liu, Hongxia Ma, Yue Jiang, Jiaping Chen, Hao Yu, Juncheng Dai
BACKGROUND: The cysteinyl transfer RNA synthetase gene (CARS) is located on chromosome band 11p15.5, which is an important tumor-suppressor gene region. Mutations in CARS have been identified in many kinds of cancers; however, evidence for a relationship between genetic variants in CARS and gastric cancer at the population level is still lacking. Thus, we explored the association of variants in CARS with gastric cancer using a two-stage case-control strategy in Chinese. METHODS: We undertook a two-stage case-control study to investigate the association between polymorphisms in CARS and risk of gastric cancer with use of an Illumina Infinium(®) BeadChip and an ABI 7900 system...
April 13, 2017: Gastric Cancer
https://www.readbyqxmd.com/read/28405401/drosophila-enhancer-gal4-lines-show-ectopic-expression-during-development
#12
Sergio Casas-Tintó, Mercedes Arnés, Alberto Ferrús
In Drosophila melanogaster the most widely used technique to drive gene expression is the binary UAS/Gal4 system. We show here that a set of nervous system specific enhancers (elav, D42/Toll-6, OK6/RapGAP1) display ectopic activity in epithelial tissues during development, which is seldom considered in experimental studies. This ectopic activity is variable, unstable and influenced by the primary sequence of the enhancer and the insertion site in the chromosome. In addition, the ectopic activity is independent of the protein expressed, Gal4, as it is reproduced also with the expression of Gal80...
March 2017: Royal Society Open Science
https://www.readbyqxmd.com/read/28403217/embryonic-loss-of-human-females-with-partial-trisomy-19-identifies-region-critical-for-the-single-active-x
#13
Barbara R Migeon, Michael A Beer, Hans T Bjornsson
To compensate for the sex difference in the number of X chromosomes, human females, like human males have only one active X. The other X chromosomes in cells of both sexes are silenced in utero by XIST, the Inactive X Specific Transcript gene, that is present on all X chromosomes. To investigate the means by which the human active X is protected from silencing by XIST, we updated the search for a key dosage sensitive XIST repressor using new cytogenetic data with more precise resolution. Here, based on a previously unknown sex bias in copy number variations, we identify a unique region in our genome, and propose candidate genes that lie within, as they could inactivate XIST...
2017: PloS One
https://www.readbyqxmd.com/read/28402969/cytogenetic-characterization-of-brown-howler-monkeys-alouatta-guariba-clamitans-atelidae-platyrrhini-meiotic-confirmation-of-an-x1x1x2x2x3x3-x1x2x3y1y2-sex-chromosome-system
#14
Eliana R Steinberg, Vanessa B Fortes, Luis F Rossi, Laurete Murer, Maristela Lovato, Maria S Merani, Marta D Mudry
For brown howler monkeys (Alouatta guariba clamitans), diploid chromosome numbers varying from 2n = 45 to 2n = 52, with XX/XY, X1X1X2X2/X1X2Y, and X1X1X2X2X3X3/X1X2X3Y1Y2 sex chromosome systems have been described by mitotic studies but still await confirmation by meiotic analyses. We analyzed 3 male individuals sampled in the wild (in the municipality of Santa Maria, RS, Brazil) as well as 1 male and 1 female individual in captivity at the São Braz breeding center. Peripheral blood samples and testicular biopsies were taken...
April 13, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28402000/x-chromosome-drive-in-a-widespread-palearctic-woodland-fly-drosophila-testacea
#15
Graeme L Keais, Mark A Hanson, Brent E Gowen, Steve J Perlman
Selfish genes that bias their own transmission during meiosis can spread rapidly in populations, even if they contribute negatively to the fitness of their host. Driving X chromosomes provide a clear example of this type of selfish propagation. These chromosomes have important evolutionary and ecological consequences, and can be found in a broad range of taxa including plants, mammals, and insects. Here we report a new case of X chromosome drive (X drive) in a widespread woodland fly, Drosophila testacea. We show that males carrying the driving X (SR males) sire 80-100% female offspring, and possess a diagnostic X chromosome haplotype that is perfectly associated with the sex ratio distortion phenotype...
April 12, 2017: Journal of Evolutionary Biology
https://www.readbyqxmd.com/read/28401080/comparison-of-the-frequency-of-y-short-tandem-repeats-markers-between-sadat-and-non-sadat-populations-in-isfahan-province-of-iran
#16
Reihaneh Seyedebrahimi, Ebrahim Esfandiari, Bahman Rashidi, Rasoul Salehi, Ali Gholami Dahghi, Shahriar Dabiri, Majid Kheirollahi
BACKGROUND: Y chromosome is one of the two sex chromosomes and is male specific. Due to limited genetic exchange, the main part of that is passed virtually unchanged from one generation to next generation. The short tandem repeats (STRs) are almost constant on chromosomes that make them as an appropriate factor for use in population genetic studies. In this study, we used the STRs of Y chromosome markers in Sadat families and comparison with other families was investigated. MATERIALS AND METHODS: In this study, sampling was done from fifty unrelated males of Sadat families and fifty unrelated males of non-Sadat families...
2017: Advanced Biomedical Research
https://www.readbyqxmd.com/read/28399342/uveal-melanoma-treatment-and-prognostication
#17
Mehmet Dogrusöz, Martine J Jager, Bertil Damato
Approximately 90% of uveal melanoma develop in the choroid, with the remainder arising in the ciliary body or the iris. The treatment of uveal melanoma is aimed at conserving the eye and useful vision, and, if possible, preventing metastatic disease. Enucleation is now reserved for tumors that are large and/or involve the optic disc, having largely been replaced by various forms of radiotherapy (plaque brachy-therapy, proton beam or stereotactic radiotherapy) and laser therapy. Whereas iridectomy and iridocyclectomy are widely performed, transscleral exoresection of choroidal tumors is performed only in a few centers because it requires special skills and hypotensive anesthesia...
March 2017: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/28397325/analysis-of-cell-free-dna-in-maternal-blood-in-screening-for-aneuploidies-updated-meta-analysis
#18
REVIEW
M M Gil, V Accurti, B Santacruz, M N Plana, K H Nicolaides
OBJECTIVE: To review clinical validation or implementation studies of maternal blood cell-free (cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 and sex chromosome aneuploidies. DATA SOURCES: Searches of PubMed, Embase and the Cochrane library were performed to identify all peer-reviewed articles on cfDNA testing in screening for aneuploidies between January 2011, when the first such study was published and 31 December 2016...
April 11, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28395600/a-composite-likelihood-approach-to-predict-the-sex-of-the-baby
#19
Simone Tiberi, Bruno Scarpa, Nicola Sartori
Couples with diseases associated with the sexual chromosomes, as well as families in countries where the desire for a male is extreme, are interested in influencing the sex of the baby. We propose an original composite likelihood approach to analyse the relation between sex of the newborn and timing of the intercourse which leads to conception. Although there exist numerous works on this relation, only few studies have been carried out on independent datasets to validate the existing theories. Since the sex of the newborn is only known in case of conception, the full likelihood of the data is not easily defined without strong assumptions...
January 1, 2017: Statistical Methods in Medical Research
https://www.readbyqxmd.com/read/28391324/the-evolution-of-sex-chromosomes-and-dosage-compensation-in-plants
#20
Aline Muyle, Rylan Shearn, Gabriel Ab Marais
Plant sex chromosomes can be vastly different from those of the few historical animal model organisms from which most of our understanding of sex chromosome evolution is derived. Recently, we have seen several advancements from studies on green algae, brown algae, and land plants that are providing a broader understanding of the variable ways in which sex chromosomes can evolve in distant eukaryotic groups. Plant sex-determining genes are being identified and, as expected, are completely different from those in animals...
March 1, 2017: Genome Biology and Evolution
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