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https://www.readbyqxmd.com/read/27893151/anomalies-in-human-sex-determination-provide-unique-insights-into-the-complex-genetic-interactions-of-early-gonad-development
#1
REVIEW
Anu Bashamboo, Caroline Eozenou, Sandra Rojo, Ken McElreavey
Human sex-determination (SD) involves complex mutually antagonistic genetic interactions of testis- and ovary-determining pathways. For many years both male and female sex-determination was considered to be regulated by a linear cascade of pro-male and pro-female genes respectively, however it has become clear that male and female development is achieved through the repression of the alternative state. A gene determining the formation of a testis may function by repressing the female state and vice-versa. Uniquely in development, SD is achieved by suppression of the alternate fate and maintained in adulthood by a mutually antagonistic double-repressive pathway...
November 28, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27886129/insights-into-the-hypertensive-effects-of-tityus-serrulatus-scorpion-venom-purification-of-an-angiotensin-converting-enzyme-like-peptidase
#2
Daniela Cajado-Carvalho, Alexandre Kazuo Kuniyoshi, Bruno Duzzi, Leo Kei Iwai, Úrsula Castro de Oliveira, Inácio de Loiola Meirelles Junqueira de Azevedo, Roberto Tadashi Kodama, Fernanda Vieira Portaro
The number of cases of envenomation by scorpions has grown significantly in Brazil since 2007, with the most severe cases being caused by the Tityus serrulatus scorpion. Although envenomed patients mostly suffer neurotoxic manifestations, other symptoms, such as hypertension, cannot be exclusively attributed to neurotoxins. Omics analyses have detected plentiful amounts of metalloproteases in T. serrulatus venom. However, the roles played by these enzymes in envenomation are still unclear. Endeavoring to investigate the functions of scorpion venom proteases, we describe here for the first time an Angiotensin I-Converting Enzyme-like peptidase (ACE-like) purified from T...
November 24, 2016: Toxins
https://www.readbyqxmd.com/read/27884790/altered-spermatogenesis-steroidogenesis-and-suppressed-fertility-in-adult-male-rats-exposed-to-genistein-a-non-steroidal-phytoestrogen-during-embryonic-development
#3
R Meena, Ch Supriya, K Pratap Reddy, P Sreenivasula Reddy
This article focuses on the effects of prenatal exposure to genistein on the mother, her pregnancy and reproductive functions of the male progeny, since these issues have ethological relevance in both animals and humans. Pregnant Wistar rats received i.p. injections of genistein at a dose level of 2, 20 or 100 mg/kg body weight daily from 12(th) to 19(th) day of gestation. Male pups from control and genistein exposed animals were weaned and allowed to develop until 100 days of age; however, when they were 90 days old, twelve males from each group were cohabited with untreated 90-day old females for 8 days...
November 21, 2016: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/27869121/direct-identification-of-clinically-relevant-neoepitopes-presented-on-native-human-melanoma-tissue-by-mass-spectrometry
#4
Michal Bassani-Sternberg, Eva Bräunlein, Richard Klar, Thomas Engleitner, Pavel Sinitcyn, Stefan Audehm, Melanie Straub, Julia Weber, Julia Slotta-Huspenina, Katja Specht, Marc E Martignoni, Angelika Werner, Rüdiger Hein, Dirk H Busch, Christian Peschel, Roland Rad, Jürgen Cox, Matthias Mann, Angela M Krackhardt
Although mutations may represent attractive targets for immunotherapy, direct identification of mutated peptide ligands isolated from human leucocyte antigens (HLA) on the surface of native tumour tissue has so far not been successful. Using advanced mass spectrometry (MS) analysis, we survey the melanoma-associated immunopeptidome to a depth of 95,500 patient-presented peptides. We thereby discover a large spectrum of attractive target antigen candidates including cancer testis antigens and phosphopeptides...
November 21, 2016: Nature Communications
https://www.readbyqxmd.com/read/27863958/the-expression-of-bitter-taste-receptors-in-mesenteric-cerebral-and-omental-arteries
#5
Jing-Guo Chen, Na-Na Ping, Dong Liang, Meng-Yi Li, Yan-Ni Mi, Sen Li, Lei Cao, Yan Cai, Yong-Xiao Cao
AIM: Bitter taste is sensed by the bitter taste receptor (TAS2R), which is mainly expressed in the tongue as well as in extra-oral organs, such as the gastrointestinal tract, respiratory tract, brain, heart and testis. This study aimed to investigate whether TAS2R is expressed in the mesenteric, cerebral and omental arteries. MAIN METHODS: The expression levels of TAS2R mRNA and protein were determined by reverse-transcription polymerase chain reaction and Western blotting, respectively...
November 15, 2016: Life Sciences
https://www.readbyqxmd.com/read/27862157/gonadal-tumour-risk-in-292-phenotypic-female-patients-with-disorders-of-sex-development-containing-y-chromosome-or-y-derived-sequence
#6
He Huang, Chunqing Wang, Qinjie Tian
OBJECTIVE: Phenotypic female disorders of sex development (DSD) patients with Y chromosome or Y-derived sequence have an increased risk of gonadal germ cell tumours (GCTs). The objective of the study was to evaluate tumour risk of DSD, summarize the clinical characteristics of patients with GCTs and propose management suggestions. METHODS: Medical records of 292 patients diagnosed DSD and undergoing bilateral gonadectomy at Peking Union Medical College Hospital from January 1996 to March 2016 were retrospectively reviewed...
October 13, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27856800/normal-testes-asymmetry-evaluated-by-apparent-diffusion-coefficient-and-magnetization-transfer-ratio
#7
Athina C Tsili, Alexandra Ntorkou, Dimitrios Giannakis, Nikolaos Sofikitis, Maria I Argyropoulou
BACKGROUND: In humans, the left testis generally hangs lower than the right and the right is larger than the left. Magnetic resonance imaging (MRI) represents an important adjuvant modality in the investigation of testicular diseases. PURPOSE: To assess if normal testes asymmetry is related to apparent diffusion coefficient (ADC) and magnetization transfer ratio (MTR). MATERIAL AND METHODS: The normal testes from 106 men were included. Testicular volume (TV) was calculated by using the ellipsoid formula: length × width × height × 0...
November 17, 2016: Acta Radiologica
https://www.readbyqxmd.com/read/27855777/successful-transmission-and-transcriptional-deployment-of-a-human-chromosome-via-mouse-male-meiosis
#8
Christina Ernst, Jeremy Pike, Sarah J Aitken, Hannah K Long, Nils Eling, Lovorka Stojic, Frances Connor, Tim F Rayner, Margus Lukk, Robert J Klose, Claudia Kutter, Duncan T Odom
Most human aneuploidies originate maternally, due in part to the presence of highly stringent checkpoints during male meiosis. Indeed, male sterility is common among aneuploid mice used to study chromosomal abnormalities, and male germline transmission of exogenous DNA has been rarely reported. Here we show that despite aberrant testis architecture, males of the aneuploid Tc1 mouse strain produce viable sperm and transmit human chromosome 21 to create aneuploid offspring. In these offspring, we mapped transcription, transcriptional initiation, enhancer activity, non-methylated DNA and transcription factor binding in adult tissues...
November 18, 2016: ELife
https://www.readbyqxmd.com/read/27852815/alcohol-based-solutions-for-bovine-testicular-tissue-fixation
#9
Nelson C Cabrera, Jorge R Espinoza, Paul Vargas-Jentzsch, Patricio Sandoval, Luis A Ramos, Pedro M Aponte
Tissue fixation, a central element in histotechnology, is currently performed with chemical compounds potentially harmful for human health and the environment. Therefore, alternative fixatives are being developed, including alcohol-based solutions. We evaluated several ethanol-based mixtures with additives to study fixative penetration rate, tissue volume changes, and morphologic effects in the bovine testis. Fixatives used were Bouin solution, 4% formaldehyde (F4), 70% ethanol (E70), E70 with 1.5% glycerol (E70G), E70 with 5% acetic acid (E70A), E70 with 1...
November 15, 2016: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/27849015/sterile-inflammation-as-a-factor-in-human-male-infertility-involvement-of-toll-like-receptor-2-biglycan-and-peritubular-cells
#10
C Mayer, M Adam, L Glashauser, K Dietrich, J U Schwarzer, F-M Köhn, L Strauss, H Welter, M Poutanen, A Mayerhofer
Changes in the wall of seminiferous tubules in men with impaired spermatogenesis imply sterile inflammation of the testis. We tested the hypothesis that the cells forming the wall of seminiferous tubules, human testicular peritubular cells (HTPCs), orchestrate inflammatory events and that Toll like receptors (TLRs) and danger signals from the extracellular matrix (ECM) of this wall are involved. In cultured HTPCs we detected TLRs, including TLR2. A TLR-2 ligand (PAM) augmented interleukin 6 (IL-6), monocyte chemo-attractant protein-1 (MCP-1) and pentraxin 3 (PTX3) in HTPCs...
November 16, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27846257/eys-is-a-protein-associated-with-the-ciliary-axoneme-in-rods-and-cones
#11
Giovanna Alfano, Przemyslaw M Kruczek, Amna Z Shah, Barbara Kramarz, Glen Jeffery, Andrew C Zelhof, Shomi S Bhattacharya
PURPOSE: Mutations in the EYS gene are a common cause of autosomal recessive retinitis pigmentosa (arRP), yet the role of the EYS protein in humans is presently unclear. The aim of this study was to investigate the isoform structure, expression and potential function of EYS in the mammalian retina in order to better understand its involvement in the pathogenesis of arRP. METHODS: To achieve the objective, we examined the expression of mRNA transcripts of EYS isoforms in human tissues and cell lines by RT-PCR...
2016: PloS One
https://www.readbyqxmd.com/read/27837020/density-of-immunogenic-antigens-does-not-explain-the-presence-or-absence-of-the-t-cell-inflamed-tumor-microenvironment-in-melanoma
#12
Stefani Spranger, Jason J Luke, Riyue Bao, Yuanyuan Zha, Kyle M Hernandez, Yan Li, Alexander P Gajewski, Jorge Andrade, Thomas F Gajewski
Melanoma metastases can be categorized by gene expression for the presence of a T-cell-inflamed tumor microenvironment, which correlates with clinical efficacy of immunotherapies. T cells frequently recognize mutational antigens corresponding to nonsynonymous somatic mutations (NSSMs), and in some cases shared differentiation or cancer-testis antigens. Therapies are being pursued to trigger immune infiltration into non-T-cell-inflamed tumors in the hope of rendering them immunotherapy responsive. However, whether those tumors express antigens capable of T-cell recognition has not been explored...
November 11, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27835883/ranbpm-ranbp9-regulates-mouse-c-kit-receptor-level-and-is-essential-for-normal-development-of-bone-marrow-progenitor-cells
#13
Sandrine Puverel, Erkan Kiris, Satyendra Singh, Kimberly D Klarmann, Vincenzo Coppola, Jonathan R Keller, Lino Tessarollo
c-Kit is a tyrosine kinase receptor important for gametogenesis, hematopoiesis, melanogenesis and mast cell biology. Dysregulation of c-Kit function is oncogenic and its expression in the stem cell niche of a number of tissues has underlined its relevance for regenerative medicine and hematopoietic stem cell biology. Yet, very little is known about the mechanisms that control c-Kit protein levels. Here we show that the RanBPM/RanBP9 scaffold protein binds to c-Kit and is necessary for normal c-Kit protein expression in the mouse testis and subset lineages of the hematopoietic system...
November 8, 2016: Oncotarget
https://www.readbyqxmd.com/read/27819146/mps1-ttk-a-novel-target-and-biomarker-for-cancer
#14
Yuan Xie, Anqiang Wang, Jianzhen Lin, Liangcai Wu, Haohai Zhang, Xiaobo Yang, Xueshuai Wan, Ruoyu Miao, Xinting Sang, Haitao Zhao
Monopolar spindle1 (Mps1, also known as TTK) is the core component of the spindle assembly checkpoint, which functions to ensure proper distribution of chromosomes to daughter cells. Mps1 is hardly detectable in normal organs except the testis and placenta. However, high levels of Mps1 are found in many types of human malignancies, including glioblastoma, thyroid carcinoma, breast cancer, and other cancers. Several Mps1 inhibitors can inhibit the proliferation of cancer cells and exhibit demonstrable survival benefits...
November 7, 2016: Journal of Drug Targeting
https://www.readbyqxmd.com/read/27814751/recurrent-merkel-cell-carcinoma-of-the-testis-with-unknown-primary-site-a-case-report
#15
Angela Mweempwa, Alvin Tan, Michael Dray
BACKGROUND: Merkel cell carcinoma is a rare and aggressive neuroendocrine tumor that commonly arises in the skin. It is rare for it to occur in the testes. There are only seven cases of testicular Merkel cell carcinoma reported in the literature. CASE PRESENTATION: A 66-year-old Maori man presented to our hospital with left testicular swelling. His alpha-fetoprotein and beta-human chorionic gonadotrophin levels were within normal limits. His lactate dehydrogenase concentration was elevated to 267 U/L...
November 5, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27812195/the-cstf2t-polyadenylation-gene-plays-a-sex-specific-role-in-learning-behaviors-in-mice
#16
Jaryse C Harris, Joseph M Martinez, Petar N Grozdanov, Susan E Bergeson, Paula Grammas, Clinton C MacDonald
Polyadenylation is an essential mechanism for the processing of mRNA 3' ends. CstF-64 (the 64,000 Mr subunit of the cleavage stimulation factor; gene symbol Cstf2) is an RNA-binding protein that regulates mRNA polyadenylation site usage. We discovered a paralogous form of CstF-64 called τCstF-64 (Cstf2t). The Cstf2t gene is conserved in all eutherian mammals including mice and humans, but the τCstF-64 protein is expressed only in a subset of mammalian tissues, mostly testis and brain. Male mice that lack Cstf2t (Cstf2t-/- mice) experience disruption of spermatogenesis and are infertile, although female fertility is unaffected...
2016: PloS One
https://www.readbyqxmd.com/read/27805905/analysis-of-drosophila-p8-and-p52-mutants-reveals-distinct-roles-for-the-maintenance-of-tfiih-stability-and-male-germ-cell-differentiation
#17
Grisel Cruz-Becerra, Mandy Juárez, Viviana Valadez-Graham, Mario Zurita
Eukaryotic gene expression is activated by factors that interact within complex machinery to initiate transcription. An important component of this machinery is the DNA repair/transcription factor TFIIH. Mutations in TFIIH result in three human syndromes: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. Transcription and DNA repair defects have been linked to some clinical features of these syndromes. However, how mutations in TFIIH affect specific developmental programmes, allowing organisms to develop with particular phenotypes, is not well understood...
October 2016: Open Biology
https://www.readbyqxmd.com/read/27802063/in-silico-analysis-of-candidate-proteins-sharing-homology-with-streptococcus-agalactiae-proteins-and-their-role-in-male-infertility
#18
Rajeshwari Parida, Luna Samanta
: Leukocytospermia is a physiologic condition defined as human semen with a leukocyte count of >1 x 10(6) cells/ml that is often correlated with male infertility. Moreover, bacteriospermia has been associated with leukocytospermia ultimately leading to male infertility. We have found that semen samples with >1 x 10(6)/ml leukocytes and/or bacteriospermia have oxidative predominance as evidenced by augmented protein carbonyl and lipid peroxidation status of the semen which is implicated in sperm dysfunction...
November 1, 2016: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/27798603/zika-virus-infection-damages-the-testes-in-mice
#19
Jennifer Govero, Prabagaran Esakky, Suzanne M Scheaffer, Estefania Fernandez, Andrea Drury, Derek J Platt, Matthew J Gorman, Justin M Richner, Elizabeth A Caine, Vanessa Salazar, Kelle H Moley, Michael S Diamond
Zika virus (ZIKV) infection of pregnant women can cause congenital malformations including microcephaly, which has focused global attention on this emerging pathogen(1). In addition to transmission by mosquitoes, ZIKV can be detected in the seminal fluid of affected males for extended periods of time and transmitted sexually(2). Here, using a mouse-adapted African ZIKV strain (Dakar 41519), we evaluated the consequences of infection in the male reproductive tract of mice. We observed persistence of ZIKV, but not the closely related Dengue virus (DENV), in the testis and epididymis of male mice, and this was associated with tissue injury that caused diminished testosterone and inhibin B levels, and oligospermia...
October 31, 2016: Nature
https://www.readbyqxmd.com/read/27786492/a-flexible-data-analysis-pipeline-for-high-confidence-proteogenomics
#20
Hendrik Weisser, James C Wright, Jonathan M Mudge, Petra Gutenbrunner, Jyoti S Choudhary
Proteogenomics leverages information derived from proteomic data in order to improve genome annotations. Of particular interest are "novel" peptides that provide direct evidence of protein expression for genomic regions not previously annotated as protein-coding. We present a modular, automated data analysis pipeline aimed at detecting such "novel" peptides in proteomic datasets. This pipeline implements criteria developed by proteomics and genome annotation experts for high-stringency peptide identification and filtering...
October 27, 2016: Journal of Proteome Research
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