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https://www.readbyqxmd.com/read/28738367/extensive-amplification-of-telomeric-repeats-in-the-karyotypically-highly-diverse-african-pygmy-mice
#1
Victor Colomina, Josette Catalan, Janice Britton-Davidian, Frédéric Veyrunes
Telomeres are ribonucleoprotein structures protecting the physical ends of eukaryotic chromosomes. However, telomeric sequences can also occur at non-terminal regions of chromosomes, forming the so-called interstitial telomeric sequences (ITSs). Some ITSs are considered as relics of past chromosomal rearrangements and as such provide important insights into karyotype evolution. By FISH, we explored the distribution of telomeric motifs in the genome of a complex of mammalian species that has long been recognized for its extraordinary karyotypic diversity: the African pygmy mice...
July 22, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28732460/novel-efficient-genome-wide-snp-panels-for-the-conservation-of-the-highly-endangered-iberian-lynx
#2
Daniel Kleinman-Ruiz, Begoña Martínez-Cruz, Laura Soriano, Maria Lucena-Perez, Fernando Cruz, Beatriz Villanueva, Jesús Fernández, José A Godoy
BACKGROUND: The Iberian lynx (Lynx pardinus) has been acknowledged as the most endangered felid species in the world. An intense contraction and fragmentation during the twentieth century left less than 100 individuals split in two isolated and genetically eroded populations by 2002. Genetic monitoring and management so far have been based on 36 STRs, but their limited variability and the more complex situation of current populations demand more efficient molecular markers. The recent characterization of the Iberian lynx genome identified more than 1...
July 21, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28730893/multicenter-study-of-genetic-abnormalities-associated-with-severe-oligospermia-and-non-obstructive-azoospermia
#3
Chong Xie, Xiangfeng Chen, Yulin Liu, Zhengmu Wu, Ping Ping
Objective * Chong Xie, Xiangfeng Chen, and Yulin Liu contributed equally to this work. Genetic defects are identified in nearly 20% of infertile males. Determining the frequency and types of major genetic abnormalities in severe male infertility helps inform appropriate genetic counseling before assisted reproductive techniques. Methods Cytogenetic results of 912 patients with non-obstructive azoospermia (NOA) and severe oligozoospermia (SOS) in Eastern China were reviewed in this multicenter study from January 2011 to December 2015...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28727099/identification-of-differentially-expressed-proteins-in-testicular-semen-of-sex-reversed-female-xx-and-normal-male-xy-rainbow-trout
#4
J Nynca, M Adamek, A Ciereszko
Masculinized females, named sex-reversed females (SRF), have a male phenotype but retain the female genotype (XX) and all spermatozoa produced in their testes carry the X chromosome. Masculinization of females leads to incomplete testicular development and the production of lower-quality semen. The mechanism of masculinization is unknown at present. Therefore, the aim of our study was to identify differentially abundant proteins in testicular semen of normal males and SRF using a difference in-gel electrophoresis approach...
July 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28726283/vocal-and-gestural-productions-of-24-month-old-children-with-sex-chromosome-trisomies
#5
Laura Zampini, Lara Draghi, Gaia Silibello, Francesca Dall'Ara, Claudia Rigamonti, Chiara Suttora, Paola Zanchi, Nicoletta Salerni, Faustina Lalatta, Paola Vizziello
BACKGROUND: Children with sex chromosome trisomies (SCT) frequently show problems in language development. However, a clear description of the communicative patterns of these children is still lacking. AIMS: To describe the first stages of language development in children with SCT in comparison with those in typically developing (TD) children. The purpose was to verify the existence of possible differences in communicative skills (in both vocal and gestural modality) and identify the presence of possible early predictors (i...
July 20, 2017: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/28721856/repeat-induced-point-mutation-and-other-genome-defense-mechanisms-in-fungi
#6
Eugene Gladyshev
Transposable elements have colonized the genomes of nearly all organisms, including fungi. Although transposable elements may sometimes provide beneficial functions to their hosts their overall impact is considered deleterious. As a result, the activity of transposable elements needs to be counterbalanced by the host genome defenses. In fungi, the primary genome defense mechanisms include repeat-induced point mutation (RIP) and methylation induced premeiotically, meiotic silencing by unpaired DNA, sex-induced silencing, cosuppression (also known as somatic quelling), and cotranscriptional RNA surveillance...
July 2017: Microbiology Spectrum
https://www.readbyqxmd.com/read/28715980/clinical-aspects-of-infertile-47-xyy-patients-a-retrospective-study
#7
Parnaz Borjian Boroujeni, Marjan Sabbaghian, Ahmad Vosough Dizaji, Shabnam Zarei Moradi, Navid Almadani, Faranak Mohammadpour Lashkari, Mohamad Reza Zamanian, Anahita Mohseni Meybodi
47,XYY syndrome is a sex chromosomal anomaly in men, which may be associated with infertility and has an incidence of 0.1% of male births. The clinical and paraclinical characteristics of men suffering from this anomaly have not been fully described. In this retrospective study, we present 37 cases of 47,XYY infertile men with sperm counts varying from normal to azoospermia, referred to the Genetics Laboratory at the Royan Institute, Iran. Thirteen individuals were mosaic and 24 non-mosaics. Non-mosaic patients were classified as azoospermic (nine cases) and normospermic/oligozoospermic men (15 cases)...
July 18, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28712569/extensive-farming-in-estonia-started-through-a-sex-biased-migration-from-the-steppe
#8
Lehti Saag, Liivi Varul, Christiana Lyn Scheib, Jesper Stenderup, Morten E Allentoft, Lauri Saag, Luca Pagani, Maere Reidla, Kristiina Tambets, Ene Metspalu, Aivar Kriiska, Eske Willerslev, Toomas Kivisild, Mait Metspalu
The transition from hunting and gathering to farming in Europe was brought upon by arrival of new people carrying novel material culture and genetic ancestry. The exact nature and scale of the transition-both material and genetic-varied in different parts of Europe [1-7]. Farming-based economies appear relatively late in Northeast Europe, and the extent to which they involve change in genetic ancestry is not fully understood due to the lack of relevant ancient DNA data. Here we present the results from new low-coverage whole-genome shotgun sequence data from five hunter-gatherers and five first farmers of Estonia whose remains date to 4,500 to 6,300 years before present...
July 11, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28706210/regulation-of-aromatase-expression-in-the-anterior-amygdala-of-the-developing-mouse-brain-depends-on-er%C3%AE-and-sex-chromosome-complement
#9
Carla Daniela Cisternas, Lucas Ezequiel Cabrera Zapata, María Angeles Arevalo, Luis Miguel Garcia-Segura, María Julia Cambiasso
During development sex differences in aromatase expression in limbic regions of mouse brain depend on sex chromosome factors. Genes on the sex chromosomes may affect the hormonal regulation of aromatase expression and this study was undertaken to explore that possibility. Male E15 anterior amygdala neuronal cultures expressed higher levels of aromatase (mRNA and protein) than female cultures. Furthermore, treatment with oestradiol (E2) or dihydrotestosterone (DHT) increased Cyp19a1 expression and aromatase protein levels only in female neuronal cultures...
July 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28705249/vector-control-with-driving-y-chromosomes-modelling-the-evolution-of-resistance
#10
Andrea Beaghton, Pantelis John Beaghton, Austin Burt
BACKGROUND: The introduction of new malaria control interventions has often led to the evolution of resistance, both of the parasite to new drugs and of the mosquito vector to new insecticides, compromising the efficacy of the interventions. Recent progress in molecular and population biology raises the possibility of new genetic-based interventions, and the potential for resistance to evolve against these should be considered. Here, population modelling is used to determine the main factors affecting the likelihood that resistance will evolve against a synthetic, nuclease-based driving Y chromosome that produces a male-biased sex ratio...
July 14, 2017: Malaria Journal
https://www.readbyqxmd.com/read/28705237/ddradseq-reveals-determinants-for-temperature-dependent-sex-reversal-in-nile-tilapia-on-lg23
#11
Stephan Wessels, Ina Krause, Claudia Floren, Ekkehard Schütz, Jule Beck, Christoph Knorr
BACKGROUND: In Nile tilapia sex determination is governed by a male heterogametic system XX/XY either on LG1 or LG23. The latter carries a Y-specific duplicate of the amh gene, which is a testis-determining factor. Allelic variants in the amh gene demonstrated to be major triggers for autosomal and temperature-dependent sex reversal. Further, QTL on LG23 and LG20 show a temperature-responsiveness with influence on the phenotypic sex relative to the sex chromosomes. Here we present a ddRADseq based approach to identify genomic regions that show unusual large differentiation in terms of fixation index (FST) between temperature-treated pseudomales and non-masculinized females using a comparative genome-scan...
July 14, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28699276/y-chromosome-and-mtdna-variation-confirms-independent-domestications-and-directional-hybridization-in-south-american-camelids
#12
J C Marín, K Romero, R Rivera, W E Johnson, B A González
Investigations of genetic diversity and domestication in South American camelids (SAC) have relied on autosomal microsatellite and maternally-inherited mitochondrial data. We present the first integrated analysis of domestic and wild SAC combining male and female sex-specific markers (male specific Y-chromosome and female-specific mtDNA sequence variation) to assess: (i) hypotheses about the origin of domestic camelids, (ii) directionality of introgression among domestic and/or wild taxa as evidence of hybridization and (iii) currently recognized subspecies patterns...
July 11, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28697408/a-finding-in-genetic-polymorphism-analysis-study-a-case-of-non-mosaic-47-xxx-without-manifestations
#13
Xingyi Yang, Zilan Ye, Xiaofang Zhang, Huijun Wang, Chao Liu
Trisomy X (47, XXX) is a sex chromosome aneuploidy condition in which females have an extra X chromosome, compared to the 46, XX karyotype in typical females. There is considerable variation in the phenotype, with some individuals very mildly affected and others with more significant physical and psychological features. However, the trisomy X in this case, without any of these phenotype, is rarely reported. Here, we report a case found during DNA sample collection in a study of genetic polymorphism analysis of loci in Chinese ethnic group, of a female with neither laboratory or clinical signs of Triple X syndrome...
June 30, 2017: Legal Medicine
https://www.readbyqxmd.com/read/28697367/meiotic-sex-chromosome-inactivation-compensation-by-gene-traffic
#14
Manyuan Long, J J Emerson
It has been widely observed that sex-related genes are copied from sex chromosomes and inserted into autosomes, a process termed 'gene traffic'. However, the adaptive significance of this phenomenon is unclear. Now, direct evidence has been provided that gene traffic may allow functional compensation during meiotic sex chromosome activation.
July 10, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28695982/combinations-of-genotoxic-tests-for-the-evaluation-of-group-1-iarc-carcinogens
#15
REVIEW
Jacky Bhagat
Many of the known human carcinogens are potent genotoxins that are efficiently detected as carcinogens in human populations but certain types of compounds such as immunosuppressants, sex hormones, etc. act via non-genotoxic mechanism. The absence of genotoxicity and the diversity of modes of action of non-genotoxic carcinogens make predicting their carcinogenic potential extremely challenging. There is evidence that combinations of different short-term tests provide a better and efficient prediction of human genotoxic and non-genotoxic carcinogens...
July 11, 2017: Journal of Applied Toxicology: JAT
https://www.readbyqxmd.com/read/28693116/long-term-follow-up-of-a-child-with-klinefelter-syndrome-and-achondroplasia-from-infancy-to-16-years
#16
Jessica D Arditi, Loretta Thomaidis, Helen Frysira, Artemis Doulgeraki, George P Chrousos, Christina Kanaka-Gantenbein
BACKGROUND: Achondroplasia (ACH), an autosomal dominant skeletal dysplasia, occurs in approximately 1:20,000 births. On the other hand, 47,XXY aneuploidy (Klinefelter syndrome [KS]) is the most common sex chromosome disorder, with a prevalence of approximately 1:600 males. To the best of our knowledge, only five cases of patients presenting both ACH and KS have been reported to date in the international literature. However, none of these cases has been longitudinally followed during the entire childhood...
June 23, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28692038/par-terra-directs-homologous-sex-chromosome-pairing
#17
Hsueh-Ping Chu, John E Froberg, Barry Kesner, Hyun Jung Oh, Fei Ji, Ruslan Sadreyev, Stefan F Pinter, Jeannie T Lee
In mammals, homologous chromosomes rarely pair outside meiosis. One exception is the X chromosome, which transiently pairs during X-chromosome inactivation (XCI). How two chromosomes find each other in 3D space is not known. Here, we reveal a required interaction between the X-inactivation center (Xic) and the telomere in mouse embryonic stem (ES) cells. The subtelomeric, pseudoautosomal regions (PARs) of the two sex chromosomes (X and Y) also undergo pairing in both female and male cells. PARs transcribe a class of telomeric RNA, dubbed PAR-TERRA, which accounts for a vast majority of all TERRA transcripts...
July 10, 2017: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/28690112/the-discovery-of-xy-sex-chromosomes-in-a-boa-and-python
#18
Tony Gamble, Todd A Castoe, Stuart V Nielsen, Jaison L Banks, Daren C Card, Drew R Schield, Gordon W Schuett, Warren Booth
For over 50 years, biologists have accepted that all extant snakes share the same ZW sex chromosomes derived from a common ancestor [1-3], with different species exhibiting sex chromosomes at varying stages of differentiation. Accordingly, snakes have been a well-studied model for sex chromosome evolution in animals [1, 4]. A review of the literature, however, reveals no compelling support that boas and pythons possess ZW sex chromosomes [2, 5]. Furthermore, phylogenetic patterns of facultative parthenogenesis in snakes and a sex-linked color mutation in the ball python (Python regius) are best explained by boas and pythons possessing an XY sex chromosome system [6, 7]...
July 5, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28689333/the-ribavirin-pregnancy-registry-an-interim-analysis-of-potential-teratogenicity-at-the-mid-point-of-enrollment
#19
Susan M Sinclair, Judith K Jones, Richard K Miller, Michael F Greene, Paul Y Kwo, Willis C Maddrey
INTRODUCTION: Significant teratogenic effects have been demonstrated in all animal species exposed to ribavirin. Ribavirin is prescribed for chronic hepatitis C and is contraindicated in women who are pregnant and in the male sexual partners of women who are pregnant. Both sexes are advised to avoid pregnancy for 6 months after exposure. The Ribavirin Pregnancy Registry was established in 2003 to monitor pregnancy exposures to ribavirin for signals of possible human teratogenicity. METHODS: This voluntary registry enrolls pregnant women with prenatal exposure to ribavirin...
July 8, 2017: Drug Safety: An International Journal of Medical Toxicology and Drug Experience
https://www.readbyqxmd.com/read/28688201/contrasting-patterns-of-x-chromosome-divergence-underlie-multiple-sex-ratio-polymorphisms-in-stalk-eyed-flies
#20
Kimberly A Paczolt, Josephine A Reinhardt, Gerald S Wilkinson
Sex-linked segregation distorters cause offspring sex ratios to differ from equality. Theory predicts that such selfish alleles may either go to fixation and cause extinction, reach a stable polymorphism, or initiate an evolutionary arms race with genetic modifiers. The extent to which a sex ratio distorter follows any of these trajectories in nature is poorly known. Here we used X-linked sequence and simple tandem repeat data for three sympatric species of stalk-eyed flies (Teleopsis whitei and two cryptic species of T...
July 8, 2017: Journal of Evolutionary Biology
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