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https://www.readbyqxmd.com/read/28535386/sex-differences-satellite-dna-directs-male-specific-gene-expression
#1
Patrick M Ferree
Dosage compensation in some animals involves up-regulation of genes on the male's X chromosome. A study in the fruit fly Drosophila melanogaster shows that satellite DNA, and corresponding small non-coding RNA, helps the dosage compensation machinery preferentially find X sequences.
May 22, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28534314/rapid-molecular-sexing-of-three-spined-sticklebacks-gasterosteus-aculeatus-l-based-on-large-y-chromosomal-insertions
#2
Theo C M Bakker, Thomas Giger, Joachim G Frommen, Carlo R Largiadèr
There is a need for rapid and reliable molecular sexing of three-spined sticklebacks, Gasterosteus aculeatus, the supermodel species for evolutionary biology. A DNA region at the 5' end of the sex-linked microsatellite Gac4202 was sequenced for the X chromosome of six females and the Y chromosome of five males from three populations. The Y chromosome contained two large insertions, which did not recombine with the phenotype of sex in a cross of 322 individuals. Genetic variation (SNPs and indels) within the insertions was smaller than on flanking DNA sequences...
May 22, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28534046/genetic-analysis-of-age-at-onset-variation-in-spinocerebellar-ataxia-type-2
#3
K P Figueroa, Hilary Coon, Nieves Santos, Luis Velazquez, Luis Almaguer Mederos, Stefan-M Pulst
OBJECTIVE: To examine heritability of the residual variability of spinocerebellar ataxia type 2 (SCA2) age at onset (AO) after controlling for CAG repeat length. METHODS: From 1955 to 2001, dates of birth, CAG repeat lengths, AO, sex, familial inheritances, and clinical manifestations were collected for a large Cuban SCA2 cohort of 382 affected individuals, including 129 parent-child pairs and 69 sibships. Analyses were performed with log-transformed AO in the GENMOD procedure to predict AO using repeat length, taking into account family structure...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28533817/mosaicism-for-structural-non-centromeric-autosomal-rearrangements-in-disease-defined-carriers-sex-differences-in-the-rearrangements-profile-and-maternal-age-distributions
#4
REVIEW
Natalia V Kovaleva, Philip D Cotter
BACKGROUND: Mosaicism for an autosomal structural rearrangement (Rea) associated with clinical manifestation of chromosomal imbalance is rare. Consequently, there is a lack of basic epidemiological characterization of this kind of mosaicism, such as population rate, cytogenetic profile of Reas involved, maternal age distribution, and sex (male to female) ratio among Rea carriers. The objectives of the present study were: (i) determination of the Rea profile in clinically affected individuals, (ii) comparative analysis of the cytogenetic profile and involvement of single chromosomes to rearrangements in affected and previously reported asymptomatic carriers, (iii) analysis of the male/female ratio in carriers of various types of Rea, and, (iv) examination of parental ages distributions according to carriers' sex...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28532280/trends-and-characteristics-of-fetal-and-neonatal-mortality-due-to-congenital-anomalies-colombia-1999-2008
#5
Claudia Patricia Roncancio, Sandra Patricia Misnaza, Isabel Cristina Peña, Franklyn Edwin Prieto, Michael J Cannon, Diana Valencia
OBJECTIVE: To describe fetal and neonatal mortality due to congenital anomalies in Colombia. METHODS: We analyzed all fetal and neonatal deaths due to a congenital anomaly registered with the Colombian vital statistics system during 1999-2008. RESULTS: The registry included 213,293 fetal deaths and 7,216,727 live births. Of the live births, 77,738 (1.08%) resulted in neonatal deaths. Congenital anomalies were responsible for 7321 fetal deaths (3...
May 22, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28525341/morphological-analysis-of-testicles-in-cats-with-disorders-of-sex-development
#6
S Dzimira, W Nizanski, J A Madej
Disorders of sex development (DSD) are rare in cats. They can be caused by chromosomal aberrations, gene mutations or other undefined factors. The aim of the present study was to compare the histological structure and immunohistochemical reactivity of testes in cats with DSD and in healthy cats. The research material consisted of the gonads of four cats - phenotypic males with an incorrect structure of the reproductive system. The control group consisted of the testes of four healthy cats - routinely castrated phenotypical males...
March 28, 2017: Polish Journal of Veterinary Sciences
https://www.readbyqxmd.com/read/28523965/safety-evaluation-of-an-oat-grain-alkaloid-gramine-by-genotoxicity-assays
#7
Manash Pratim Pathak, Rudragoud S Policegoudra, Danswrang Goyary, Aparoop Das, Santa Mandal, Srijita Chakraborti, Nilutpal Sharma Bora, Johirul Islam, Pompy Patowary, P Srinivas Raju, Pronobesh Chattopadhyay
Gramine is a natural indole alkaloid that has been isolated from different raw plants occurring mainly in Avena sativa, etc. The study was aimed to investigate the possible in vitro antioxidant, in vitro mutagenic, in vitro antimutagenic, and in vivo genotoxic activity of gramine using ferric reducing ability of plasma (FRAP) assay, Metal chelating, Ames bacterial reverse mutation test, and the mouse bone marrow micronucleus assay as well as chromosomal aberration. Four concentrations of gramine viz. 250, 500, 1000, and 2000 μg/mL were evaluated for its antioxidant activity in FRAP Assay and Metal Chelating Test...
May 19, 2017: Drug and Chemical Toxicology
https://www.readbyqxmd.com/read/28521575/high-frequency-of-de-novo-daz-microdeletion-in-sperm-nuclei-of-subfertile-men-possible-involvement-of-genome-instability-in-idiopathic-male-infertility
#8
Hossein Mozdarani, Pegah Ghoraeian, Sohail Mozdarani, Parvin Fallahi, Anahita Mohseni-Meybodi
The occurrence and diagnosis of Y-chromosome microdeletions, specifically deletions of the DAZ (Deleted in Azoospermia) genes are an important issue in male infertility. Screening Y chromosome microdeletion is mainly done using polymerase chain reaction (PCR) on blood leukocytes. However, there is some evidence indicating that presence of DAZ in somatic cells might not be indicative of its presence in the germ cell lineage. Therefore, a total of 130 men with poor semen quality were examined for presence of DAZ microdeletion in their leukocytes...
May 19, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28520984/genome-wide-association-study-of-heavy-smoking-and-daily-nondaily-smoking-in-the-hispanic-community-health-study-study-of-latinos-hchs-sol
#9
Nancy L Saccone, Leslie S Emery, Tamar Sofer, Stephanie M Gogarten, Diane M Becker, Erwin P Bottinger, Li-Shiun Chen, Robert C Culverhouse, Weimin Duan, Dana B Hancock, H Dean Hosgood, Eric O Johnson, Ruth J F Loos, Tin Louie, George Papanicolaou, Krista M Perreira, Erik J Rodriquez, Claudia Schurmann, Adrienne M Stilp, Adam A Szpiro, Gregory A Talavera, Kent D Taylor, James F Thrasher, Lisa R Yanek, Cathy C Laurie, Eliseo J Pérez-Stable, Laura J Bierut, Robert C Kaplan
Introduction: Genetic variants associated with nicotine dependence have previously been identified, primarily in European-ancestry populations. No genome-wide association studies (GWAS) have been reported for smoking behaviors in Hispanics/Latinos in the U.S. and Latin America, who are of mixed ancestry with European, African, and American Indigenous components. Methods: We examined genetic associations with smoking behaviors in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) [N=12,741 with smoking data, 5,119 ever smokers], using ~2...
May 17, 2017: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
https://www.readbyqxmd.com/read/28518099/dissection-of-larval-zebrafish-gonadal-tissue
#10
Xinjian Wang, Sijie Chen, Wei Zhang, Yiyuan Ren, Quan Zhang, Gang Peng
Although wild zebrafish possess a ZZ/ZW sex-determination system, domesticated zebrafish have lost the sex chromosome. They utilize a polygenic sex determination system, where several genes distributed throughout the genome collectively determine the sex identities of individual fish. Currently, the genes involved in regulating gonad development and how they work remain elusive. Normally, isolating gonadal tissue is the first step to examine the sex developmental processes. Here, we present a procedure to isolate gonadal tissue from 17 dpf (days post fertilization) and 25 dpf zebrafish larvae...
April 26, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28510597/ubiquitylation-of-the-acetyltransferase-mof-in-drosophila-melanogaster
#11
Sarah Schunter, Raffaella Villa, Victoria Flynn, Jan B Heidelberger, Anne-Kathrin Classen, Petra Beli, Peter B Becker
The nuclear acetyltransferase MOF (KAT8 in mammals) is a subunit of at least two multi-component complexes involved in transcription regulation. In the context of complexes of the 'Non-Specific-Lethal' (NSL) type it controls transcription initiation of many nuclear housekeeping genes and of mitochondrial genes. While this function is conserved in metazoans, MOF has an additional, specific function in Drosophila in the context of dosage compensation. As a subunit of the male-specific-lethal dosage compensation complex (MSL-DCC) it contributes to the doubling of transcription output from the single male X chromosome by acetylating histone H4...
2017: PloS One
https://www.readbyqxmd.com/read/28510293/a-test-for-y-linked-additive-and-epistatic-effects-on-surviving-bacterial-infections-in-drosophila-melanogaster
#12
Ian C Kutch, Kenneth M Fedorka
Y and W chromosomes offer a theoretically powerful way for sexual dimorphism to evolve. Consistent with this possibility, Drosophila melanogaster Y-chromosomes can influence gene regulation throughout the genome; particularly immune-related genes. In order for Y-linked regulatory variation (YRV) to contribute to adaptive evolution it must be comprised of additive genetic variance, such that variable Ys induce consistent phenotypic effects within the local gene pool. We assessed the potential for Y-chromosomes to adaptively shape gram-negative and gram-positive bacterial defense by introgressing Ys across multiple genetic haplotypes from the same population...
May 16, 2017: Journal of Evolutionary Biology
https://www.readbyqxmd.com/read/28508054/flexible-adaptation-of-male-germ-cells-from-female-ipscs-of-endangered-tokudaia-osimensis
#13
Arata Honda, Narantsog Choijookhuu, Haruna Izu, Yoshihiro Kawano, Mizuho Inokuchi, Kimiko Honsho, Ah-Reum Lee, Hiroki Nabekura, Hiroshi Ohta, Tomoyuki Tsukiyama, Yasuhide Ohinata, Asato Kuroiwa, Yoshitaka Hishikawa, Mitinori Saitou, Takamichi Jogahara, Chihiro Koshimoto
In mammals, the Y chromosome strictly influences the maintenance of male germ cells. Almost all mammalian species require genetic contributors to generate testes. An endangered species, Tokudaia osimensis, has a unique sex chromosome composition XO/XO, and genetic differences between males and females have not been confirmed. Although a distinctive sex-determining mechanism may exist in T. osimensis, it has been difficult to examine thoroughly in this rare animal species. To elucidate the discriminative sex-determining mechanism in T...
May 2017: Science Advances
https://www.readbyqxmd.com/read/28506992/reduced-mad2-levels-dampen-apoptotic-response-to-non-exchange-sex-chromosomes-and-lead-to-sperm-aneuploidy
#14
Imrul Faisal, Liisa Kauppi
In meiosis, non-exchange homologous chromosomes are at risk for missegregation and should be monitored by the spindle assembly checkpoint (SAC) to avoid formation of aneuploid gametes. Sex chromosome missegregation is particularly common and can lead to sterility or to aneuploid offspring (e.g. individuals with Turner or Klinefelter syndrome). Despite major implications for health and reproduction, modifiers of meiotic SAC robustness and the subsequent apoptotic response in male mammals remain obscure. Levels of SAC proteins, e...
May 15, 2017: Development
https://www.readbyqxmd.com/read/28506826/an-x-chromosome-linked-mouse-model-ndufa1-s55a-for-systemic-partial-complex-i-deficiency-for-studying-predisposition-to-neurodegeneration-and-other-diseases
#15
Chul Kim, Prasanth Potluri, Ahmed Khalil, Daria Gaut, Meagan McManus, Shannon Compton, Douglas C Wallace, Nagendra Yadava
The respiratory chain Complex I deficiencies are the most common cause of mitochondrial diseases. Complex I biogenesis is controlled by 58 genes and at least 47 of these cause mitochondrial disease in humans. Two of these are X-chromosome linked nuclear (nDNA) genes (NDUFA1 and NDUFB11), and 7 are mitochondrial (mtDNA, MT-ND1-6, 4L) genes, which may be responsible for sex-dependent variation in the presentation of mitochondrial diseases. In this study, we describe an X-chromosome linked mouse model (Ndufa1(S55A)) for systemic partial Complex I deficiency...
May 12, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28502828/premature-ovarian-insufficiency-an-adolescent-series
#16
Kallirroi Chaloutsou, Pantelis Aggelidis, Andreas Pampanos, Eleni Theochari, Lina Michala
STUDY OBJECTIVE: To study the presentation and causes of premature ovarian insufficiency (POI) in adolescents DESIGN: Retrospective notes review SETTING: Tertiary Referral Outpatient clinic for Pediatric and Adolescent Gynecology PARTICIPANTS: Adolescents with POI INTERVENTIONS: Standard POI evaluation MAIN OUTCOME MEASURES: Age and clinical symptoms at presentation, causative factor for POI, if identified. RESULTS: We identified 22 girls with POI, with a mean age of 15...
May 11, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28502657/rpl10l-is-required-for-male-meiotic-division-by-compensating-for-rpl10-during-meiotic-sex-chromosome-inactivation-in-mice
#17
Long Jiang, Tao Li, Xingxia Zhang, Beibei Zhang, Changping Yu, Yang Li, Suixing Fan, Xiaohua Jiang, Teka Khan, Qiaomei Hao, Peng Xu, Daita Nadano, Mahmoud Huleihel, Eitan Lunenfeld, P Jeremy Wang, Yuanwei Zhang, Qinghua Shi
The mammalian sex chromosomes have undergone profound changes during their evolution from an ancestral pair of autosomes [1-4]. Specifically, the X chromosome has acquired a paradoxical sex-biased function by redistributing gene contents [5, 6] and has generated a disproportionately high number of retrogenes that are located on autosomes and exhibit male-biased expression patterns [6]. Several selection-based models have been proposed to explain this phenomenon, including a model of sexual antagonism driving X inactivation (SAXI) [6-8] and a compensatory mechanism based on meiotic sex chromosome inactivation (MSCI) [6, 8-11]...
May 22, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28501862/chromosome-painting-in-trogon-s-surrucura-aves-trogoniformes-reveals-a-karyotype-derived-by-chromosomal-fissions-fusions-and-inversions
#18
Tiago M Degrandi, Analía Del Valle Garnero, Patricia C M O'Brien, Malcolm A Ferguson-Smith, Rafael Kretschmer, Edivaldo H C de Oliveira, Ricardo J Gunski
Trogons are forest birds with a wide distribution, being found in Africa, Asia, and America, and are included in the order Trogoniformes, family Trogonidae. Phylogenetic studies using molecular data have not been able to determine the phylogenetic relationship among the different genera of trogons. So far, no cytogenetic data for these birds exist. Hence, the aim of this study was to characterize the karyotype of Trogon surrucura surrucura by means of classical and molecular cytogenetics. We found a diploid chromosome number of 2n = 82, similar to most birds, with several derived features compared to chicken and the putative ancestral avian karyotype...
May 13, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28500471/w-enriched-satellite-sequence-in-the-indian-meal-moth-plodia-interpunctella-lepidoptera-pyralidae
#19
Martina Dalíková, Magda Zrzavá, Svatava Kubíčková, František Marec
The W chromosome of most lepidopteran species represents the largest heterochromatin entity in the female genome. Although satellite DNA is a typical component of constitutive heterochromatin, there are only a few known satellite DNAs (satDNAs) located on the W chromosome in moths and butterflies. In this study, we isolated and characterized new satDNA (PiSAT1) from microdissected W chromosomes of the Indian meal moth, Plodia interpunctella. Even though the PiSAT1 is mainly localized near the female-specific segment of the W chromosome, short arrays of this satDNA also occur on autosomes and/or the Z chromosome...
May 12, 2017: Chromosome Research
https://www.readbyqxmd.com/read/28500332/sexual-homomorphism-in-dioecious-trees-extensive-tests-fail-to-detect-sexual-dimorphism-in-populus-%C3%A2
#20
Athena D McKown, Jaroslav Klápště, Robert D Guy, Raju Y Soolanayakanahally, Jonathan La Mantia, Ilga Porth, Oleksandr Skyba, Faride Unda, Carl J Douglas, Yousry A El-Kassaby, Richard C Hamelin, Shawn D Mansfield, Quentin C B Cronk
The evolution of sexual dimorphism and expansion of sex chromosomes are both driven through sexual conflict, arising from differing fitness optima between males and females. Here, we pair work in poplar (Populus) describing one of the smallest sex-determining regions known thus far in complex eukaryotes (~100 kbp) with comprehensive tests for sexual dimorphism using >1300 individuals from two Populus species and assessing 96 non-reproductive functional traits. Against expectation, we found sexual homomorphism (no non-reproductive trait differences between the sexes), suggesting that gender is functionally neutral with respect to non-reproductive features that affect plant survival and fitness...
May 12, 2017: Scientific Reports
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