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sex-linked inheritance

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https://www.readbyqxmd.com/read/28659664/inherited-variation-in-cytokine-acute-phase-response-and-calcium-metabolism-genes-affects-susceptibility-to-infective-endocarditis
#1
Anastasia V Ponasenko, Anton G Kutikhin, Maria V Khutornaya, Natalia V Rutkovskaya, Natalia V Kondyukova, Yuri N Odarenko, Yana V Kazachek, Anna V Tsepokina, Leonid S Barbarash, Arseniy E Yuzhalin
Infective endocarditis (IE) is a septic inflammation of the endocardium. Recognition of microbial patterns, cytokine and acute phase responses, hemostasis features, and alterations in plasma lipid and calcium profile all have been reported to affect pathogenesis and clinical course of IE. Having recruited 123 patients with IE and 300 age-, sex-, and ethnicity-matched healthy blood donors, we profiled their genomic DNA for 35 functionally significant polymorphisms within the 22 selected genes involved in the abovementioned pathways, with the further genetic association analysis...
2017: Mediators of Inflammation
https://www.readbyqxmd.com/read/28566542/wolbachia-induced-meiotic-drive-and-feminization-is-associated-with-an-independent-occurrence-of-selective-mitochondrial-sweep-in-a-butterfly
#2
Mai Miyata, Tatsuro Konagaya, Kenji Yukuhiro, Masashi Nomura, Daisuke Kageyama
Maternally inherited Wolbachia endosymbionts manipulate arthropod reproduction in various ways. In the butterfly Eurema mandarina, a cytoplasmic incompatibility-inducing Wolbachia strain wCI and the associated mtDNA haplotypes are known to originate from the sister species Eurema hecabe, which offered a good case study for microbe-mediated hybrid introgression. Besides wCI, some females with the Z0 karyotype harbour a distinct Wolbachia strain wFem, which causes all-female production by meiotic drive and feminization...
May 2017: Biology Letters
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/28516454/a-multiscale-computational-modelling-approach-predicts-mechanisms-of-female-sex-risk-in-the-setting-of-arousal-induced-arrhythmias
#4
Pei-Chi Yang, Laura L Perissinotti, Fernando López-Redondo, Yibo Wang, Kevin R DeMarco, Mao-Tsuen Jeng, Igor Vorobyov, Robert D Harvey, Junko Kurokawa, Sergei Y Noskov, Colleen E Clancy
KEY POINTS: This study represents a first step toward predicting mechanisms of sex-based arrhythmias that may lead to important developments in risk stratification and may inform future drug design and screening. We undertook simulations to reveal the conditions (i.e. pacing, drugs, sympathetic stimulation) required for triggering and sustaining reentrant arrhythmias. Using the recently solved cryo-EM structure for the Eag-family channel as a template, we revealed potential interactions of oestrogen with the pore loop hERG mutation (G604S)...
July 15, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28500672/telomere-length-and-fetal-programming-a-review-of-recent-scientific-advances
#5
Valerie E Whiteman, Anjali Goswami, Hamisu M Salihu
We sought to synthesize a comprehensive literature review comprising recent research linking fetal programming to fetal telomere length. We also explored the potential effects fetal telomere length shortening has on fetal phenotypes. Utilizing the PubMed database as our primary search engine, we retrieved and reviewed 165 articles of published research. The inclusion criteria limited the articles to those that appeared within the last ten years, were pertinent to humans, and without restriction to language of publication...
May 2017: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/28427323/detection-of-qtl-for-traits-related-to-adaptation-to-sub-optimal-climatic-conditions-in-chickens
#6
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/28425581/clinical-biochemical-and-genetic-features-of-41-han-chinese-families-with-primary-hypertrophic-osteoarthropathy-and-their-therapeutic-response-to-etoricoxib-results-from-a-6-months-prospective-clinical-intervention
#7
Shan-Shan Li, Jin-We He, Wen-Zhen Fu, Yu-Juan Liu, Yun-Qiu Hu, Zhen-Lin Zhang
Primary hypertrophic osteoarthropathy (PHO) is a rare inherited disease caused by genetic defects in prostaglandin metabolism pathway; disturbed prostaglandin E2 (PGE2 ) catabolism resulting in increased PGE2 levels is suggested in the pathogenesis. Forty-three Han Chinese patients with PHO were studied and 41 of them were treated. Mutations in HPGD gene, causing hypertrophic osteoarthropathy, primary, autosomal recessive 1 (PHOAR1; OMIM 259100), were identified in 7 patients, and mutations in SLCO2A1 gene, causing hypertrophic osteoarthropathy, primary, autosomal recessive 2 (PHOAR2; OMIM 614441), were identified in 36 patients...
April 20, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28198143/demographics-of-polycystic-kidney-disease-and-captive-population-viability-in-pygmy-hippopotamus-choeropsis-liberiensis
#8
Gabriella L Flacke, Joseph L Tomkins, Robert Black, Beatrice Steck
Polycystic kidney disease (PKD) was previously diagnosed at necropsy in several pygmy hippopotami (Choeropsis liberiensis) from the Smithsonian National Zoo and Zoo Basel, suggesting a threat to the long-term viability of the captive population. We determined the incidence and demographics of PKD in the captive population historically; we tested if the condition is linked to pedigree; we investigated mode of inheritance; we examined effects of PKD on longevity; we conducted survival analysis; and we examined long-term population viability...
March 2017: Zoo Biology
https://www.readbyqxmd.com/read/28159751/x-chromosome-control-of-genome-scale-recombination-rates-in-house-mice
#9
Beth L Dumont
Sex differences in recombination are widespread in mammals, but the causes of this pattern are poorly understood. Previously, males from two interfertile subspecies of house mice, Mus musculus musculus and M. m. castaneus, were shown to exhibit a ∼30% difference in their global crossover frequencies. Much of this crossover rate divergence is explained by six autosomal loci and a large-effect locus on the X chromosome. Intriguingly, the allelic effects at this X-linked locus are transgressive, with the allele conferring increased crossover rate being transmitted by the low crossover rate M...
April 2017: Genetics
https://www.readbyqxmd.com/read/28115992/sex-specific-chromatin-landscapes-in-an-ultra-compact-chordate-genome
#10
Pavla Navratilova, Gemma Barbara Danks, Abby Long, Stephen Butcher, John Robert Manak, Eric M Thompson
BACKGROUND: In multicellular organisms, epigenome dynamics are associated with transitions in the cell cycle, development, germline specification, gametogenesis and inheritance. Evolutionarily, regulatory space has increased in complex metazoans to accommodate these functions. In tunicates, the sister lineage to vertebrates, we examine epigenome adaptations to strong secondary genome compaction, sex chromosome evolution and cell cycle modes. RESULTS: Across the 70 MB Oikopleura dioica genome, we profiled 19 histone modifications, and RNA polymerase II, CTCF and p300 occupancies, to define chromatin states within two homogeneous tissues with distinct cell cycle modes: ovarian endocycling nurse nuclei and mitotically proliferating germ nuclei in testes...
2017: Epigenetics & Chromatin
https://www.readbyqxmd.com/read/28107058/rapid-changes-in-the-sex-linkage-of-male-coloration-in-introduced-guppy-populations
#11
Swanne P Gordon, Andrés López-Sepulcre, Diana Rumbo, David N Reznick
Theory predicts that the sex linkage of sexually selected traits can influence the direction and rate of evolution and should itself evolve in response to sex-specific selection. Some studies have found intraspecific differences in sex linkage associated with differences in selection pressures, but we know nothing about how fast these differences can evolve. Here we show that introduced guppy populations showing rapid evolution of male coloration also show rapid changes in sex-linkage patterns. A comparison, using hormonal manipulations in females, of introduced populations of different ages suggests a consistent increase of autosomal or X-linked coloration 2 years after introduction from high- to low-predation environments...
February 2017: American Naturalist
https://www.readbyqxmd.com/read/28017851/immediate-and-delayed-anxiety-and-depression-like-profiles-in-the-adolescent-wistar-kyoto-rat-model-of-endogenous-depression-following-postweaning-social-isolation
#12
Reshma A Shetty, Monika Sadananda
In order to understand links that exist between inherited risk or predisposition, brain and behavioural development, endocrine regulation and social/environmental stimuli, animal models are crucial. The Wistar-Kyoto (WKY) rat has been shown to have validity as a model of adult and adolescent depression. While sex- and age-specific differences in some of the face, predictive and construct validities of the model such as depression-like behaviours have been established, anhedonia and anxiety using other induced anxiety paradigms such as elevated plus maze remain equivocal...
December 23, 2016: Behavioural Brain Research
https://www.readbyqxmd.com/read/27994972/pursuing-the-quest-for-better-understanding-the-taxonomic-distribution-of-the-system-of-doubly-uniparental-inheritance-of-mtdna
#13
Arthur Gusman, Sophia Lecomte, Donald T Stewart, Marco Passamonti, Sophie Breton
There is only one exception to strict maternal inheritance of mitochondrial DNA (mtDNA) in the animal kingdom: a system named doubly uniparental inheritance (DUI), which is found in several bivalve species. Why and how such a radically different system of mitochondrial transmission evolved in bivalve remains obscure. Obtaining a more complete taxonomic distribution of DUI in the Bivalvia may help to better understand its origin and function. In this study we provide evidence for the presence of sex-linked heteroplasmy (thus the possible presence of DUI) in two bivalve species, i...
2016: PeerJ
https://www.readbyqxmd.com/read/27920511/relationships-between-fto-rs9939609-mc4r-rs17782313-and-ppar%C3%AE-rs1801282-polymorphisms-and-the-occurrence-of-selected-metabolic-and-hormonal-disorders-in-middle-aged-and-elderly-men-a-preliminary-study
#14
Iwona Rotter, Karolina Skonieczna-Żydecka, Danuta Kosik-Bogacka, Grażyna Adler, Aleksandra Rył, Maria Laszczyńska
PURPOSE: Metabolic disorders, including MetS, obesity, and lipid disorders, may be related to genetic factors. Metabolic disorders are associated with decreased TS levels in aging men. The aim of this study was to evaluate the relationship between FTO rs9939609, MC4R rs17782313, and PPARγ rs1801282 polymorphisms and the presence of MetS and its components, the concurrent lipid disorders, as well as sex hormone concentrations. SUBJECTS AND METHODS: This study involved 272 men of Caucasian descent aged 50-75 years...
2016: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/27827389/recombination-changes-at-the-boundaries-of-fully-and-partially-sex-linked-regions-between-closely-related-silene-species-pairs
#15
J L Campos, S Qiu, S Guirao-Rico, R Bergero, D Charlesworth
The establishment of a region of suppressed recombination is a critical change during sex chromosome evolution, leading to such properties as Y (and W) chromosome genetic degeneration, accumulation of repetitive sequences and heteromorphism. Although chromosome inversions can cause large regions to have suppressed recombination, and inversions are sometimes involved in sex chromosome evolution, gradual expansion of the non-recombining region could potentially sometimes occur. We here test whether closer linkage has recently evolved between the sex-determining region and several genes that are partially sex-linked in Silene latifolia, using Silene dioica, a closely related dioecious plants whose XY sex chromosome system is inherited from a common ancestor...
April 2017: Heredity
https://www.readbyqxmd.com/read/27781385/an-epigenetic-perspective-on-the-midwife-toad-experiments-of-paul-kammerer-1880-1926
#16
REVIEW
Alexander O Vargas, Quirin Krabichler, Carlos Guerrero-Bosagna
Paul Kammerer was the most outstanding neo-Lamarckian experimentalist of the early 20th century. He reported spectacular results in the midwife toad, including crosses of environmentally modified toads with normal toads, where acquired traits were inherited in Mendelian fashion. Accusations of fraud generated a great scandal, ending with Kammerer's suicide. Controversy reignited in the 1970s, when journalist Arthur Koestler argued against these accusations. Since then, others have argued that Kammerer's results, even if real, were not groundbreaking and could be explained by somatic plasticity, inadvertent selection, or conventional genetics...
January 2017: Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution
https://www.readbyqxmd.com/read/27731327/incomplete-offspring-sex-bias-in-australian-populations-of-the-butterfly-eurema-hecabe
#17
D J Kemp, F E Thomson, W Edwards, I Iturbe-Ormaetxe
Theory predicts unified sex ratios for most organisms, yet biases may be engendered by selfish genetic elements such as endosymbionts that kill or feminize individuals with male genotypes. Although rare, feminization is established for Wolbachia-infected Eurema butterflies. This paradigm is presently confined to islands in the southern Japanese archipelago, where feminized phenotypes produce viable all-daughter broods. Here, we characterize sex bias for E. hecabe in continental Australia. Starting with 186 wild-caught females, we reared >6000 F1-F3 progeny in pedigree designs that incorporated selective antibiotic treatments...
March 2017: Heredity
https://www.readbyqxmd.com/read/27720178/child-onset-and-adolescent-onset-acquired-thrombotic-thrombocytopenic-purpura-with-severe-adamts13-deficiency-a-cohort-study-of-the-french-national-registry-for-thrombotic-microangiopathy
#18
Bérangère S Joly, Alain Stepanian, Thierry Leblanc, David Hajage, Hervé Chambost, Jérôme Harambat, Fanny Fouyssac, Vincent Guigonis, Guy Leverger, Tim Ulinski, Thérésa Kwon, Chantal Loirat, Paul Coppo, Agnès Veyradier
BACKGROUND: Thrombotic thrombocytopenic purpura is a rare thrombotic microangiopathy, related to a severe ADAMTS13 deficiency (a disintegrin and metalloprotease with thromboSpondin type 1 repeats, member 13; activity <10% of normal). Childhood-onset thrombotic thrombocytopenic purpura is very rare and initially often misdiagnosed, especially when ADAMTS13 deficiency is acquired (ie, not linked to inherited mutations of the ADAMTS13 gene). We aimed to investigate initial presentation, management, and outcome of acquired thrombotic thrombocytopenic purpura in children...
November 2016: Lancet Haematology
https://www.readbyqxmd.com/read/27632780/impact-of-consanguineous-marriages-and-degrees-of-inbreeding-on-fertility-child-mortality-secondary-sex-ratio-selection-intensity-and-genetic-load-a-cross-sectional-study-from-northern-india
#19
Mohd Fareed, Mir Kaisar Ahmad, Malik Azeem Anwar, Mohammad Afzal
BACKGROUND: The aim of our study was to understand the relationship between consanguineous marriages and reproductive outcomes. METHODS: A total of 999 families were recruited from five Muslim populations of Jammu region. Family pedigrees were drawn to access the family history and inbreeding status in terms of coefficient of inbreeding (F). Fertility, mortality, secondary sex ratio, selection intensity, and lethal equivalents were measured using standard methods...
January 2017: Pediatric Research
https://www.readbyqxmd.com/read/27629040/matrilineal-inheritance-of-a-key-mediator-of-prenatal-maternal-effects
#20
Barbara Tschirren, Ann-Kathrin Ziegler, Joel L Pick, Monika Okuliarová, Michal Zeman, Mathieu Giraudeau
Sex-linkage is predicted to evolve in response to sex-specific or sexually antagonistic selection. In line with this prediction, most sex-linked genes are associated with reproduction in the respective sex. In addition to traits directly involved in fertility and fecundity, mediators of maternal effects may be predisposed to evolve sex-linkage, because they indirectly affect female fitness through their effect on offspring phenotype. Here, we test for sex-linked inheritance of a key mediator of prenatal maternal effects in oviparous species, the transfer of maternally derived testosterone to the eggs...
September 14, 2016: Proceedings. Biological Sciences
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