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https://www.readbyqxmd.com/read/28228961/concurrent-van-der-woude-syndrome-and-turner-syndrome-a-case-report
#1
Evan Los, Hayley Baines, Ines Guttmann-Bauman
Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28227475/label-free-detection-of-sex-determining-region-y-sry-via-capacitive-biosensor
#2
Shilpa Sivashankar, Christos Sapsanis, Sumeyra Agambayev, Ulrich Buttner, Khaled Nabil Salama, Shilpa Sivashankar, Christos Sapsanis, Sumeyra Agambayev, Ulrich Buttner, Khaled Nabil Salama, Khaled Nabil Salama, Shilpa Sivashankar, Sumeyra Agambayev, Christos Sapsanis, Ulrich Buttner
In this work, we present for the first time, the use of a simple fractal capacitive biosensor for the quantification and detection of sex-determining region Y (SRY) genes. This section of genetic code, which is found on the Y chromosome, finds importance for study as it causes fetuses to develop characteristics of male sex-like gonads when a mutation occurs. It is also an important genetic code in men, and disorders involving the SRY gene can cause infertility and sexual malfunction that lead to a variety of gene mutational disorders...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28224649/sex-chromosomal-abnormalities-associated-with-equine-infertility-validation-of-a-simple-molecular-screening-tool-in-the-purebred-spanish-horse
#3
G Anaya, A Molina, M Valera, M Moreno-Millán, P Azor, P Peral-García, S Demyda-Peyrás
Chromosomal abnormalities in the sex chromosome pair (ECAX and ECAY) are widely associated with reproductive problems in horses. However, a large proportion of these abnormalities remains undiagnosed due to the lack of an affordable diagnostic tool that allows for avoiding karyotyping tests. Hereby, we developed an STR (single-tandem-repeat)-based molecular method to determine the presence of the main sex chromosomal abnormalities in horses in a fast, cheap and reliable way. The frequency of five ECAX-linked (LEX026, LEX003, TKY38, TKY270 and UCDEQ502) and two ECAY-linked (EcaYH12 and SRY) markers was characterized in 261 Purebred Spanish Horses to determine the efficiency of the methodology developed to be used as a chromosomal diagnostic tool...
February 22, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28223527/ancient-x-chromosomes-reveal-contrasting-sex-bias-in-neolithic-and-bronze-age-eurasian-migrations
#4
Amy Goldberg, Torsten Günther, Noah A Rosenberg, Mattias Jakobsson
Dramatic events in human prehistory, such as the spread of agriculture to Europe from Anatolia and the late Neolithic/Bronze Age migration from the Pontic-Caspian Steppe, can be investigated using patterns of genetic variation among the people who lived in those times. In particular, studies of differing female and male demographic histories on the basis of ancient genomes can provide information about complexities of social structures and cultural interactions in prehistoric populations. We use a mechanistic admixture model to compare the sex-specifically-inherited X chromosome with the autosomes in 20 early Neolithic and 16 late Neolithic/Bronze Age human remains...
February 21, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28223406/sex-drives-dimorphic-immune-responses-to-viral-infections
#5
REVIEW
Soumitra Ghosh, Robyn S Klein
New attention to sexual dimorphism in normal mammalian physiology and disease has uncovered a previously unappreciated breadth of mechanisms by which females and males differentially exhibit quantitative phenotypes. Thus, in addition to the established modifying effects of hormones, which prenatally and postpubertally pattern cells and tissues in a sexually dimorphic fashion, sex differences are caused by extragonadal and dosage effects of genes encoded on sex chromosomes. Sex differences in immune responses, especially during autoimmunity, have been studied predominantly within the context of sex hormone effects...
March 1, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28223312/natural-variation-and-dosage-of-the-hei10-meiotic-e3-ligase-control-arabidopsis-crossover-recombination
#6
Piotr A Ziolkowski, Charles J Underwood, Christophe Lambing, Marina Martinez-Garcia, Emma J Lawrence, Liliana Ziolkowska, Catherine Griffin, Kyuha Choi, F Chris H Franklin, Robert A Martienssen, Ian R Henderson
During meiosis, homologous chromosomes undergo crossover recombination, which creates genetic diversity and balances homolog segregation. Despite these critical functions, crossover frequency varies extensively within and between species. Although natural crossover recombination modifier loci have been detected in plants, causal genes have remained elusive. Using natural Arabidopsis thaliana accessions, we identified two major recombination quantitative trait loci (rQTLs) that explain 56.9% of crossover variation in Col×Ler F2 populations...
February 21, 2017: Genes & Development
https://www.readbyqxmd.com/read/28220980/the-fire-ant-social-chromosome-supergene-variant-sb-shows-low-diversity-but-high-divergence-from-sb
#7
Rodrigo Pracana, Anurag Priyam, Ilya Levantis, Richard A Nichols, Yannick Wurm
Variation in social behavior is common yet little is known about the genetic architectures underpinning its evolution. A rare exception is in the fire ant Solenopsis invicta: Alternative variants of a supergene region determine whether a colony will have exactly one or up to dozens of queens. The two variants of this region are carried by a pair of "social chromosomes", SB and Sb, which resemble a pair of sex chromosomes. Recombination is suppressed between the two chromosomes in the supergene region. While the X-like SB can recombine with itself in SB/SB queens, recombination is effectively absent in the Y-like Sb because Sb/Sb queens die before reproducing...
February 21, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28219225/-effect-of-nccn-2015-risk-stratification-on-prognosis-of-patients-with-acute-myeloid-leukemia-after-allogeneic-hematopoietic-stem-cell-transplantation
#8
Y Lu, T Wu, Y L Zhao, X Y Cao, D Y Liu, J P Zhang, M Xiong, J R Zhou, R J Sun, Z J Wei, H Wang, H X Liu, T Wang, C R Tong, S Q Ji, D P Lu
Objective: To analyze the effect of NCCN (2015) risk stratification on prognosis of patients with acute myeloid leukemia (AML) after allogeneic hematopoietic stem cell transplantation (allo-HSCT) . Methods: Retrospective analysis of 258 patients with AML in CR (186 cases in CR(1), 72 cases in CR(2)) who underwent allogeneic HSCT in our hospital between April 2012 and March 2015 according to NCCN (2015) risk stratification. Of them, 63 cases were classified as low risk, 112 cases intermediate risk and 83 cases high risk...
January 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/28217965/copy-number-variations-in-testicular-maturation-arrest
#9
A Halder, P Kumar, M Jain, V K Iyer
Testicular maturation arrest is characterized by interruption of germ cell development and differentiation. Genetic factors play important role in the causation of human disease, including male infertility. The objective was to study copy number variations in testicular maturation arrest using single nucleotide polymorphism (SNP) microarray technique. Conventional cytogenetics, targeted fluorescence in situ hybridization (FISH) and sequence-tagged site (STS) polymerase chain reaction (PCR) were used to confirm some of the SNP microarray findings...
February 19, 2017: Andrology
https://www.readbyqxmd.com/read/28214601/the-inhibition-of-mating-in-phycomyces-blakesleeanus-by-light-is-dependent-on-the-mada-madb-complex-that-acts-in-a-sex-specific-manner
#10
Viplendra P S Shakya, Alexander Idnurm
Light is an environmental signal that influences reproduction in the Mucoromycotina fungi, as it does in many other species of fungi. Mating in Phycomyces blakesleeanus is inhibited by light, but the molecular mechanisms for this inhibition are uncharacterized. In this analysis, the role of the light-sensing MadA-MadB complex in mating was tested. The MadA-MadB complex is homologous to the Neurospora crassa White Collar complex. Three genes required for cell type determination in the sex locus or pheromone biosynthesis are transcriptionally-regulated by light and are controlled by MadA and MadB...
February 15, 2017: Fungal Genetics and Biology: FG & B
https://www.readbyqxmd.com/read/28211924/a-selfish-b-chromosome-induces-genome-elimination-by-disrupting-the-histone-code-in-the-jewel-wasp-nasonia-vitripennis
#11
John C Aldrich, Alexandra Leibholz, Manjinder S Cheema, Juan Ausiό, Patrick M Ferree
Intragenomic conflict describes a phenomenon in which genetic elements act 'selfishly' to gain a transmission advantage at the expense of the whole genome. A non-essential, selfish B chromosome known as Paternal Sex Ratio (PSR) induces complete elimination of the sperm-derived hereditary material in the jewel wasp Nasonia vitripennis. PSR prevents the paternal chromatin from forming chromosomes during the first embryonic mitosis, leading to its loss. Although paternally transmitted, PSR evades self-elimination in order to be inherited...
February 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28209763/revisiting-suppression-of-interspecies-hybrid-male-lethality-in-caenorhabditis-nematodes
#12
Lauren E Ryan, Eric S Haag
Within the nematode genus Caenorhabditis, C. briggsae and C. nigoni are among the most closely related species known. They differ in sexual mode, with C. nigoni retaining the ancestral XO male-XX female outcrossing system, while C. briggsae recently evolved self-fertility and an XX-biased sex ratio. Wild-type C. briggsae and C. nigoni can produce fertile hybrid XX female progeny, but XO progeny are either 100% inviable (when C. briggsae is the mother) or viable but sterile (when C. nigoni is the mother). A recent study provided evidence suggesting that loss of the Cbr-him-8 meiotic regulator in C...
February 16, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28208955/high-serum-estradiol-and-heavy-metals-responsible-for-human-spermiation-defect-a-pilot-study
#13
Manish Jain, Amanpreet Kaur Kalsi, Amita Srivastava, Yogendra Kumar Gupta, Ashutosh Halder
INTRODUCTION: Spermiation is a process of releasing sperm into the lumen of seminiferous tubules. Failure in releasing sperm into the lumen is designated as spermiation defect. Spermiation defect cases present as oligo-azoospermia or azoospermia despite normal gonadotropins and testicular histology/cytology. Human spermiation defect never got attention to investigate infertility practice. Most of the information on spermiation defect, so far is from animal experiments. We assume some cases of non-obstructive azoospermia with normal gonadotropins and testicular histology/cytology could be due to spermiation defect...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28206607/evolution-of-dosage-compensation-in-anolis-carolinensis-a-reptile-with-xx-xy-chromosomal-sex-determination
#14
Shawn M Rupp, Timothy H Webster, Kimberly C Olney, Elizabeth D Hutchins, Kenro Kusumi, Melissa A Wilson Sayres
No abstract text is available yet for this article.
January 1, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/28197167/vviaprt3-and-vvifsex-two-genes-involved-in-sex-specification-able-to-distinguish-different-flower-types-in-vitis
#15
João L Coito, Miguel J N Ramos, Jorge Cunha, Helena G Silva, Sara Amâncio, Maria M R Costa, Margarida Rocheta
Vitis vinifera vinifera is a hermaphrodite subspecies, while its ancestor, Vitis vinifera sylvestris, is dioecious. We have identified two genes that together allow the discrimination between male, female and hermaphrodite Vitis plants. The sex locus region on chromosome 2 was screened resulting in the discovery of a new gene, VviFSEX. The same screening revealed another gene, VviAPRT3, located in the sex region, that be used as a sex marker. Both genes are good candidates to be involved in flower sex differentiation in grapevine...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28195584/live-birth-in-an-archosauromorph-reptile
#16
Jun Liu, Chris L Organ, Michael J Benton, Matthew C Brandley, Jonathan C Aitchison
Live birth has evolved many times independently in vertebrates, such as mammals and diverse groups of lizards and snakes. However, live birth is unknown in the major clade Archosauromorpha, a group that first evolved some 260 million years ago and is represented today by birds and crocodilians. Here we report the discovery of a pregnant long-necked marine reptile (Dinocephalosaurus) from the Middle Triassic (∼245 million years ago) of southwest China showing live birth in archosauromorphs. Our discovery pushes back evidence of reproductive biology in the clade by roughly 50 million years, and shows that there is no fundamental reason that archosauromorphs could not achieve live birth...
February 14, 2017: Nature Communications
https://www.readbyqxmd.com/read/28192063/karyotype-diversity-in-doradidae-siluriformes-doradoidea-and-presence-of-the-heteromorphic-zz-zw-sex-chromosome-system-in-the-family
#17
Fábio Hiroshi Takagui, Lucas Ferreira de Moura, Daniela Cristina Ferreira, Liano Centofante, Carla de Andrade Vitorino, Vanessa Bueno, Vladimir Pavan Margarido, Paulo Cesar Venere
Karyotypes and other chromosomal markers as revealed by conventional and molecular cytogenetic protocols in four species of the catfish family Doradidae from the Araguaia-Tocantins river basin, namely Hassar wilderi, Leptodoras cataniae, Tenellus leporhinus and Tenellus trimaculatus were examined. All species had diploid chromosome number 2n = 58 and karyotypes dominated by biarmed chromosomes, simple NOR phenotype, that is, one chromosome pair bearing this site in terminal position, but some differences in karyotypes and distribution of constitutive heterochromatin, position of rDNA sites...
February 13, 2017: Zebrafish
https://www.readbyqxmd.com/read/28190856/virilism-and-ectopic-expression-of-hsd17b5-in-mature-cystic-teratoma
#18
Yohei Kawaguchi, Hiroko Mizuno, Mai Horikawa, Mayuko Kano, Kengo Yamada, Fumiko Yamakawa, Takashi Maekawa, Yuto Yamazaki, Keely M McNamara, Hironobu Sasano, Masayuki Hayashi
Mature cystic teratoma (MCT) is rarely involved in the overproduction of steroid hormones in contrast to sex cord stromal tumors. A 31-year-old woman visited our hospital with hirsutism, hoarseness, and hair loss from the scalp. Serum testosterone and free-testosterone levels were 7.3 ng/ml and 2.3 pg/ml, respectively, which were markedly in excess of the age adjusted female standard levels. Basal blood levels of steroid hormones and serum levels of 17-hydroxyprogesterone at 1 h after intravenous injection of adrenocorticotropic hormone demonstrated that 21-hydroxylase deficiency was not the underlying cause of her virilization...
2017: Tohoku Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28187242/maintenance-of-polygenic-sex-determination-in-a-fluctuating-environment-an-individual-based-model
#19
Andrew W Bateman, Bradley R Anholt
R. A. Fisher predicted that individuals should invest equally in offspring of both sexes, and that the proportion of males and females produced (the primary sex ratio) should evolve towards 1:1 when unconstrained. For many species, sex determination is dependent on sex chromosomes, creating a strong tendency for balanced sex ratios, but in other cases multiple autosomal genes interact to determine sex. In such cases, the maintenance of multiple sex-determining alleles at multiple loci and the consequent between-family variability in sex ratios presents a puzzle, as theory predicts that such systems should be unstable...
February 10, 2017: Journal of Evolutionary Biology
https://www.readbyqxmd.com/read/28186115/stable-cretaceous-sex-chromosomes-enable-molecular-sexing-in-softshell-turtles-testudines-trionychidae
#20
Michail Rovatsos, Peter Praschag, Uwe Fritz, Lukáš Kratochvšl
Turtles demonstrate variability in sex determination ranging from environmental sex determination (ESD) to highly differentiated sex chromosomes. However, the evolutionary dynamics of sex determining systems in this group is not well known. Differentiated ZZ/ZW sex chromosomes were identified in two species of the softshell turtles (Trionychidae) from the subfamily Trionychinae and Z-specific genes were identified in a single species. We tested Z-specificity of a subset of these genes by quantitative PCR comparing copy gene numbers in male and female genomes in 10 species covering the phylogenetic diversity of trionychids...
February 10, 2017: Scientific Reports
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