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sex-linked inheritance

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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
#1
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
#2
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...
November 9, 2016: Heredity
https://www.readbyqxmd.com/read/27781385/an-epigenetic-perspective-on-the-midwife-toad-experiments-of-paul-kammerer-1880-1926
#3
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...
October 26, 2016: 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
#4
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...
October 12, 2016: 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
#5
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...
October 3, 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
#6
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...
October 12, 2016: Pediatric Research
https://www.readbyqxmd.com/read/27629040/matrilineal-inheritance-of-a-key-mediator-of-prenatal-maternal-effects
#7
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
https://www.readbyqxmd.com/read/27618130/histological-and-transcriptomic-changes-in-male-zebrafish-testes-due-to-early-life-exposure-to-low-level-2-3-7-8-tetrachlorodibenzo-p-dioxin
#8
Bridget B Baker, Jeremiah S Yee, Danielle N Meyer, Doris Yang, Tracie R Baker
We have shown that zebrafish (Danio rerio) are an excellent model for evaluating the link between early life stage exposure to environmental chemicals and disease in adulthood and subsequent unexposed generations. Previously, we used this model to identify transgenerational effects of dioxin (2,3,7,8-tetrachlorodibenzo-p-dioxin [TCDD]) on skeletal development, sex ratio, and reproductive capacity. Transgenerational inheritance of TCDD toxicity, notably decreased reproductive capacity, appears to be mediated through the male germ line...
October 2016: Zebrafish
https://www.readbyqxmd.com/read/27599147/genomic-signatures-of-sex-biased-demography-progress-and-prospects
#9
Timothy H Webster, Melissa A Wilson Sayres
Sex-biased demographic events have played a crucial role in shaping human history. Many of these processes affect genetic variation and can therefore leave detectable signatures in the genome because autosomal, X-linked, Y-linked, and mitochondrial DNA inheritance differ between sexes. Here, we discuss how sex-biased processes shape patterns of genetic diversity across the genome, review recent genomic evidence for sex-biased demography in modern human populations, and suggest directions for future research...
September 3, 2016: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/27536043/y-chromosomal-genes-affecting-male-fertility-a-review
#10
REVIEW
Jasdeep Kaur Dhanoa, Chandra Sekhar Mukhopadhyay, Jaspreet Singh Arora
The mammalian sex-chromosomes (X and Y) have evolved from autosomes and are involved in sex determination and reproductive traits. The Y-chromosome is the smallest chromosome that consists of 2-3% of the haploid genome and may contain between 70 and 200 genes. The Y-chromosome plays major role in male fertility and is suitable to study the evolutionary relics, speciation, and male infertility and/or subfertility due to its unique features such as long non-recombining region, abundance of repetitive sequences, and holandric inheritance pattern...
July 2016: Veterinary World
https://www.readbyqxmd.com/read/27525896/review-recent-progress-in-identification-and-characterization-of-loci-associated-with-sex-linked-congenital-cataract
#11
D D Zhang, J Z Du, J Topolewski, X M Wang
Congenital cataract is a common cause of blindness in children; however, its pathogenesis remains unclear. Genetic factors have been shown to play an important role in the pathogenesis of congenital cataract. The current genetic models of congenital cataract include autosomal dominant, autosomal recessive, and sex-linked inheritance. Sex-linked congenital cataract could be inherited through the X or Y chromosome. Congenital cataract is a symptom associated with several X-linked disorders, including Nance-Horan syndrome, Lowe syndrome, Conradi-Hünermann-Happle syndrome, oculo-facio-cardio-dental syndrome, and Alport syndrome...
2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27518813/genetic-basis-of-cry1f-resistance-in-a-laboratory-selected-asian-corn-borer-strain-and-its-cross-resistance-to-other-bacillus-thuringiensis-toxins
#12
Yueqin Wang, Yidong Wang, Zhenying Wang, Alejandra Bravo, Mario Soberón, Kanglai He
The Asian corn borer (ACB), Ostrinia furnacalis (Guenée) (Lepidoptera: Crambidae), is the most destructive insect pest of corn in China. Susceptibility to the Cry1F toxin derived from Bacillus thuringiensis has been demonstrated for ACB, suggesting the potential for Cry1F inclusion as part of an insect pest management program. Insects can develop resistance to Cry toxins, which threatens the development and use of Bt formulations and Bt crops in the field. To determine possible resistance mechanisms to Cry1F, a Cry1F-resistant colony of ACB (ACB-FR) that exhibited more than 1700-fold resistance was established through selection experiments after 49 generations of selection under laboratory conditions...
2016: PloS One
https://www.readbyqxmd.com/read/27507266/in-silico-analyses-of-mitochondrial-orfans-in-freshwater-mussels-bivalvia-unionoida-provide-a-framework-for-future-studies-of-their-origin-and-function
#13
Alyssa Mitchell, Davide Guerra, Donald Stewart, Sophie Breton
BACKGROUND: Many species of bivalves exhibit a unique system of mtDNA transmission named Doubly Uniparental Inheritance (DUI). Under this system, species have two distinct, sex-linked mitochondrial genomes: the M-type mtDNA, which is transmitted by males to male offspring and found in spermatozoa, and the F-type mtDNA, which is transmitted by females to all offspring, and found in all tissues of females and in somatic tissues of males. Bivalves with DUI also have sex-specific mitochondrial ORFan genes, (M-orf in the M mtDNA, F-orf in the F mtDNA), which are open reading frames having no detectable homology and no known function...
2016: BMC Genomics
https://www.readbyqxmd.com/read/27485667/the-sex-locus-is-tightly-linked-to-factors-conferring-sex-specific-lethal-effects-in-the-mosquito-aedes-aegypti
#14
E Krzywinska, V Kokoza, M Morris, E de la Casa-Esperon, A S Raikhel, J Krzywinski
In many taxa, sex chromosomes are heteromorphic and largely non-recombining. Evolutionary models predict that spread of recombination suppression on the Y chromosome is fueled by the accumulation of sexually antagonistic alleles in close linkage to the sex determination region. However, empirical evidence for the existence of sexually antagonistic alleles is scarce. In the mosquito Aedes aegypti, the sex-determining chromosomes are homomorphic. The region of suppressed recombination, which surrounds the male-specific sex-determining gene, remains very small, despite ancient origin of the sex chromosomes in the Aedes lineage...
August 3, 2016: Heredity
https://www.readbyqxmd.com/read/27440667/a-neo-w-chromosome-in-a-tropical-butterfly-links-colour-pattern-male-killing-and-speciation
#15
David A S Smith, Ian J Gordon, Walther Traut, Jeremy Herren, Steve Collins, Dino J Martins, Kennedy Saitoti, Piera Ireri, Richard Ffrench-Constant
Sexually antagonistic selection can drive both the evolution of sex chromosomes and speciation itself. The tropical butterfly the African Queen, Danaus chrysippus, shows two such sexually antagonistic phenotypes, the first being sex-linked colour pattern, the second, susceptibility to a male-killing, maternally inherited mollicute, Spiroplasma ixodeti, which causes approximately 100% mortality in male eggs and first instar larvae. Importantly, this mortality is not affected by the infection status of the male parent and the horizontal transmission of Spiroplasma is unknown...
July 27, 2016: Proceedings. Biological Sciences
https://www.readbyqxmd.com/read/27353121/prenatal-diagnosis-for-haemophilia-the-thai-experience
#16
A Chuansumrit, W Sasanakul, P Promsonthi, N Sirachainan, P Panburana, P Kadegasem, P Wongwerawattanakoon
BACKGROUND: Haemophilia is a lifelong X-linked recessive inherited bleeding disorder. Since the haemophilia management in economically less-developed countries is inadequately provided, prevention of new cases of haemophilia is essentially required. SUBJECTS AND METHODS: A total of 42 pregnancies in 37 women at risk for severe and moderate haemophilia (A = 33, B = 4) were enrolled. The prenatal diagnostic (PND) procedure was performed in 32 women, while 10 women refused further PND procedure after knowing their foetuses were female (n = 8) and male (n = 2)...
November 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/27352833/alterations-in-heart-rate-variability-during-everyday-life-are-linked-to-insulin-resistance-a-role-of-dominating-sympathetic-over-parasympathetic-nerve-activity
#17
Maria K Svensson, Stina Lindmark, Urban Wiklund, Peter Rask, Marcus Karlsson, Jan Myrin, Joel Kullberg, Lars Johansson, Jan W Eriksson
AIMS: To evaluate the role of the autonomic nervous system (ANS) in the development of insulin resistance (IR) and assess the relationship between IR and activity of ANS using power spectrum analysis of heart rate variability (HRV). SUBJECTS AND METHODS: Twenty-three healthy first-degree relatives of patients with type 2 diabetes (R) and 24 control subjects without family history of diabetes (C) group-matched for age, BMI and sex were included. Insulin sensitivity (M value) was assessed by hyperinsulinemic (56 mU/m(2)/min) euglycemic clamp...
2016: Cardiovascular Diabetology
https://www.readbyqxmd.com/read/27303449/complexities-of-x-chromosome-inactivation-status-in-female-human-induced-pluripotent-stem-cells-a-brief-review-and-scientific-update-for-autism-research
#18
REVIEW
Mary G Dandulakis, Kesavan Meganathan, Kristen L Kroll, Azad Bonni, John N Constantino
Induced pluripotent stem cells (iPSCs) allow researchers to make customized patient-derived cell lines by reprogramming noninvasively retrieved somatic cells. These cell lines have the potential to faithfully represent an individual's genetic background; therefore, in the absence of available human brain tissue from a living patient, these models have a significant advantage relative to other models of neurodevelopmental disease. When using human induced pluripotent stem cells (hiPSCs) to model X-linked developmental disorders or inherited conditions that undergo sex-specific modulation of penetrance (e...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27302555/mutation-update-for-kabuki-syndrome-genes-kmt2d-and-kdm6a-and-further-delineation-of-x-linked-kabuki-syndrome-subtype-2
#19
Nina Bögershausen, Vincent Gatinois, Vera Riehmer, Hülya Kayserili, Jutta Becker, Michaela Thoenes, Pelin Özlem Simsek-Kiper, Mouna Barat-Houari, Nursel H Elcioglu, Dagmar Wieczorek, Sigrid Tinschert, Guillaume Sarrabay, Tim M Strom, Aurélie Fabre, Gareth Baynam, Elodie Sanchez, Gudrun Nürnberg, Umut Altunoglu, Yline Capri, Bertrand Isidor, Didier Lacombe, Carole Corsini, Valérie Cormier-Daire, Damien Sanlaville, Fabienne Giuliano, Kim-Hanh Le Quan Sang, Honorine Kayirangwa, Peter Nürnberg, Thomas Meitinger, Koray Boduroglu, Barbara Zoll, Stanislas Lyonnet, Andreas Tzschach, Alain Verloes, Nataliya Di Donato, Isabelle Touitou, Christian Netzer, Yun Li, David Geneviève, Gökhan Yigit, Bernd Wollnik
Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, short stature, various organ malformations, and a variable degree of intellectual disability. Mutations in KMT2D have been identified as the main cause for KS, whereas mutations in KDM6A are a much less frequent cause. Here, we report a mutation screening in a case series of 347 unpublished patients, in which we identified 12 novel KDM6A mutations (KS type 2) and 208 mutations in KMT2D (KS type 1), 132 of them novel...
September 2016: Human Mutation
https://www.readbyqxmd.com/read/27283943/venous-thromboembolism-does-not-share-familial-susceptibility-with-retinal-vascular-occlusion-or-glaucoma-a-nationwide-family-study
#20
Bengt Zöller, Xinjun Li, Jan Sundquist, Kristina Sundquist
Inherited hypercoagulable states (i.e. thrombophilia) have been suggested to be involved in retinal vascular occlusion but results are divergent. Vascular micronutrition and ischemia have been hypothesised to be involved in the pathogenesis of glaucoma. This nationwide study determines the importance of family history of venous thromboembolism (VTE) as a risk factor for retinal vein occlusion (RVO), retinal artery occlusion (RAO), primary open angle glaucoma (POAG) and primary angle-closure glaucoma (PACG)...
November 2016: Journal of Thrombosis and Thrombolysis
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