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Human testis

Yan-Wei Sha, Xiong Wang, Zhi-Ying Su, Chengrong Wang, Zhi-Yong Ji, Li-Bin Mei, Ling Zhang, Bing-Bing Deng, Xian-Jing Huang, Wei Yan, Jie Chen, Ping Li, Yuan-Qing Cui, Qing-Lan Qu, Chenghong Yin, Xue-Mei He
Oligoasthenoteratozoospermia (OAT) is characterized as low sperm count, decreased sperm motility and structural abnormalities of the sperm head in the same patient. However, very few studies reported the genetic alterations associated with OAT. Here we report a 38-year-old patient with OAT from a consanguineous family, with 2-6 million/mL sperm density, 2.1-3.8% normal sperm morphology and immotile sperm. Whole-exome sequencing (WES) identified homozygous variant c.1259A>G:p.Y420C in the TDRD6 gene. TDRD6 is a testis-specific expressed protein that was localized to the chromatoid bodies in germ cells and played an important role in the nonsense-mediated decay pathway...
March 15, 2018: Gene
Jiang He, Yuzu Zhao, Erhu Zhao, Xianxing Wang, Zhen Dong, Yibiao Chen, Liqun Yang, Hongjuan Cui
Background: The cancer-testis specific gene Opa interacting protein 5 (OIP5) is a testis-specific gene that is reactivated in many human cancers, but its functions in glioblastoma remain unclear. Here, we assessed the significance of OIP5 in the tumorigenesis and metastasis of glioblastoma for the first time. Methods: An immunohistochemistry assay was performed to detect OIP5 expression changes in glioblastoma patients. Overall survival analysis was performed to evaluate the prognostic significance of OIP5...
March 14, 2018: Neuro-oncology
Fernanda Ramos-Gomes, Julia Bode, Alyona Sukhanova, Svetlana V Bozrova, Mara Saccomano, Miso Mitkovski, Julia Eva Krueger, Anja K Wege, Walter Stuehmer, Pavel S Samokhvalov, Daniel Baty, Patrick Chames, Igor Nabiev, Frauke Alves
Early detection of malignant tumours and, especially, micrometastases and disseminated tumour cells is still a challenge. In order to implement highly sensitive diagnostic tools we demonstrate the use of nanoprobes engineered from nanobodies (single-domain antibodies, sdAbs) and fluorescent quantum dots (QDs) for single- and two-photon detection and imaging of human micrometastases and disseminated tumour cells in ex vivo biological samples of breast and pancreatic metastatic tumour mouse models expressing human epidermal growth factor receptor 2 (HER2) or carcinoembryonic antigen (CEA)...
March 15, 2018: Scientific Reports
F de Michele, J Poels, M G Giudice, F De Smedt, J Ambroise, M Vermeulen, D Gruson, C Wyns
STUDY QUESTION: How does the formation of the blood-testis barrier (BTB), as reflected by the expression of connexin 43 and claudin 11 proteins during the pubertal transition period, take place in vitro compared to samples from a large cohort of pre/peripubertal boys? SUMMARY ANSWER: The BTB connexin 43 and claudin 11 expression patterns appeared to be partially achieved in organotypic culture when compared to that in samples from 71 pre/peripubertal patients. WHAT IS KNOWN ALREADY: Although alterations in the protein expression patterns of the BTB, whose main components are connexin 43 and claudin 11, are known to be associated with impaired spermatogenesis in mice and adult men, there is a lack of knowledge on its formation in pre-peripubertal human tissue both in vitro and in vivo...
March 12, 2018: Molecular Human Reproduction
Zhiming Li, Shuai Chen, Yufeng Yang, Xuan Zhuang, Chi-Meng Tzeng
The objective of this study was to identify genes regulated by methylation that were involved in spermatogenesis failure in non-obstructive azoospermia (NOA). Testis biopsies of patients with NOA and OA (with normal spermatogenesis) were evaluated by microarray analysis to examine DNA methylation and mRNA expression using our established integrative approach. Of the coordinately hypermethylated and down-regulated gene list, zinc-finger CCHC-type containing 13 ( ZCCHC13 ) was present within the nuclei of germ cells of testicular tissues according immunohistochemistry, and there was decreased protein expression in men with NOA compared with OA controls...
December 2018: Cell Death Discovery
Karolina Nowicka-Bauer, Małgorzata Ozgo, Adam Lepczynski, Marzena Kamieniczna, Agnieszka Malcher, Wiesław Skrzypczak, Maciej Kurpisz
The aim of this study was to identify and analyse human sperm proteins from normozoospermic men using 2-dimensional electrophoresis (2-DE) and mass spectrometry (MS). We identified 73 different sperm proteins, including two less characterized human sperm proteins, Annexin A7 (ANXA7) and c14orf105. Bioinformatic analysis of detected sperm proteins revealed new carbohydrate and lipid metabolic pathways, which supply energy to motile sperm. A comparison of our data with available mRNA microarray data from the human testis allows for validation of identified sperm proteins and aids in the recognition of their physiological pathways...
March 8, 2018: Reproductive Biology
Huizhen Wang, Bo Wang, Jinxiang Liu, Aoyun Li, He Zhu, XuBo Wang, Quanqi Zhang
As constituent factors of Piwi-interacting RNA (piRNA) pathways, Piwi proteins are essential for germline maintenance and gonadal development. Previous studies show that Piwi-piRNA pathways could be regulated by hypothalamic-pituitary-gonadal (HPG) axis, however, related studies have not been reported in marine species. Here we reported the identification of turbot (Scophthalmus maximus) piwil1 gene, which was abundantly expressed in testis and ovary in a tissue-specific manner. Phylogenetic and genomic structure analyses revealed that piwil1 was conserved in its sequence and function during vertebrate evolution...
March 7, 2018: Gene
Carolina Mondillo, María Luisa Varela, Adriana María Belén Abiuso, Ramiro Vázquez
Histamine (HA) is a pleiotropic biogenic amine synthesized exclusively by histidine decarboxylase (HDC) in most mammalian tissues. The literature on the role of HA within the male gonad has expanded over the last years, attracting attention to potential unexpected side-effects of anti-histamines on testicular function. In this regard, HA receptors (HRH1, HRH2 and HRH4) have been described in Leydig cells of different species, including human. Via these receptors, HA has been reported to trigger positive or negative interactions with the LH/hCG signaling pathway depending upon its concentration, thereby contributing to the local control of testicular androgen levels...
March 9, 2018: Reproduction: the Official Journal of the Society for the Study of Fertility
Shun Bai, Le Cheng, Yingwen Zhang, Chunsen Zhu, Zhiping Zhu, Ruping Zhu, C Yan Cheng, Lan Ye, Ke Zheng
STUDY QUESTION: What is the physiological role of Rictor in spermatogenic cells? SUMMARY ANSWER: Germline expression of Rictor regulates spermatogonial differentiation and has an essential role in coordinating germ cells and Sertoli cells in maintaining intact cell-cell adhesion dynamics and cytoskeleton-based architecture in the seminiferous epithelium. WHAT IS KNOWN ALREADY: The mechanistic target of rapamycin (mTOR) resides in its functions as the catalytic subunits of the structurally and functionally distinct mTORC1 and mTORC2 complexes...
February 6, 2018: Molecular Human Reproduction
Ignacio Hugo Castro, Alejandro Ferrari, María Georgina Herrera, Martín Ezequiel Noguera, Lorenzo Maso, Monica Benini, Alessandra Rufini, Roberto Testi, Paola Costantini, Javier Santos
Friedreich's ataxia is a disease caused by a decrease in the levels of expression or loss of functionality of the mitochondrial protein frataxin (FXN). The development of an active and stable recombinant variant of FXN is important for protein replacement therapy. Although valuable data about the mature form FXN81-210 has been collected, not enough information is available about the conformation of the frataxin precursor (FXN1-210). We investigated the conformation, stability and function of a recombinant precursor variant (His6-TAT-FXN1-210), which includes a TAT peptide in the N-terminal region to assist with transport across cell membranes...
March 2018: FEBS Open Bio
Fouzia Siraj, Shruti Sharma, Chandra Bhushan Rai, Pawan Vasudeva
A 27-year-old male presented with a gradually increasing left scrotal mass. There was no significant past medical history. Ultrasonography of the left scrotum showed a hypoechoic, intratesticular mass with solid and cystic components. Laboratory investigations revealed normal serum levels of alpha-fetoprotein, beta human chorionic gonadotropin and lactate dehydrogenase. He underwent left high inguinal orchidectomy due to suspicion of testicular malignancy. After histopathologic examination and immunostaining, a diagnosis of high-grade primary testicular leimyosarcoma was ascertained...
March 2018: Turkish Journal of Urology
Giovanna Liguori, Simona Tafuri, Chika Miyoshi, Masashi Yanagisawa, Caterina Squillacioti, Valeria De Pasquale, Nicola Mirabella, Alfredo Vittoria, Anna Costagliola
The peptides orexin A (OXA) and orexin B (OXB) derived from the proteolytic cleavage of a common precursor molecule, prepro-orexin, were originally described in the rat hypothalamus. Successively, they have been found in many other brain regions as well as in peripheral organs of mammals and other less evolved animals. The widespread localization of orexins accounts for the multiple activities that they exert in the body, including the regulation of energy homeostasis, feeding, metabolism, sleep and arousal, stress, addiction, and cardiovascular and endocrine functions...
February 26, 2018: Acta Histochemica
Anu Bashamboo, Caroline Eozenou, Anne Jorgensen, Joelle Bignon-Topalovic, Jean-Pierre Siffroi, Capucine Hyon, Attila Tar, Péter Nagy, Janos Sólyom, Zita Halász, Annnabel Paye-Jaouen, Sophie Lambert, David Rodriguez-Buritica, Rita Bertalan, Laetitia Martinerie, Ewa Rajpert-De Meyts, John C Achermann, Ken McElreavey
Emerging evidence from murine studies suggests that mammalian sex determination is the outcome of an imbalance between mutually antagonistic male and female regulatory networks that canalize development down one pathway while actively repressing the other. However, in contrast to testis formation, the gene regulatory pathways governing mammalian ovary development have remained elusive. We performed exome or Sanger sequencing on 79 46,XX SRY-negative individuals with either unexplained virilization or with testicular/ovotesticular disorders/differences of sex development (TDSD/OTDSD)...
February 16, 2018: American Journal of Human Genetics
Seung-Eun Lee, JongKeon Song, Korbinian Bösl, André C Müller, Dijana Vitko, Keiryn L Bennett, Giulio Superti-Furga, Akhilesh Pandey, Richard K Kandasamy, Min-Sik Kim
Chromosome-centric Human Proteome Project aims at identifying and characterizing protein products encoded from all human protein-coding genes. As of early 2017, 19,837 protein-coding genes have been annotated in the neXtProt database including 2,691 missing proteins that have never been identified by mass spectrometry. Missing proteins may be low abundant in many cell types or expressed only in a few cell types in human body such as sperms in testis. In this study, we performed expression proteomics of two near haploid cell types such as HAP1 and KBM-7 to hunt for missing proteins...
February 23, 2018: Proteomics
Martina Belli, Nahoko Iwata, Tomoko Nakamura, Akira Iwase, Dwayne Stupack, Shunichi Shimasaki
Germline knockout studies in female mice demonstrated an essential role for FOXL2 in early follicle development, while an inducible granulosa cell (GC) specific deletion of Foxl2 in adults has shown ovary-to-testis somatic sex reprogramming. In women, over 120 different germline mutations in the FOXL2 gene have been shown to cause blepharophimosis/ptosis/epicantus inversus syndrome associated with or without primary ovarian insufficiency. By contrast, a single somatic mutation (FOXL2C134W) accounts for almost all adult-type GC tumors (aGCTs)...
February 19, 2018: Endocrinology
Mia P Castiglione, Raddy L Ramos, Joerg R Leheste, German Torres
Mammalian cells accumulate DNA lesions when they undergo phases of the cell cycle or during normal cellular activity. In this regard, several DNA repair signaling pathways have evolved to maintain genome stability and avoid the potential acquisition of mutations. To define and further characterize the expression of DNA double-strand breaks in humans and mice, we used immunocytochemistry to localize a DNA damage signal within the spatial confines of the cell nucleus. We show that DNA double-strand breaks are abundantly expressed in post-mitotic neurons of the human and mouse brain...
February 21, 2018: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
Ashwini Raghavendra, Priyakshi Kalita-de Croft, Ana Cristina Vargas, Chanel E Smart, Peter T Simpson, Jodi M Saunus, Sunil R Lakhani
AIMS: A better understanding of the expression of cancer testis antigens (CTA) in breast cancer might identify new immunotherapy options, especially for triple-negative (TN) tumours, which lack expression of conventional therapeutic targets ER, PR and HER2 (receptors for Oestrogen, Progesterone and Human epidermal growth factor). The aim of this study was to quantify the expression of MAGE-A and NY-ESO-1 CTAs in breast cancer, and relate this to known clinicopathologic parameters. METHODS AND RESULTS: We surveyed MAGE-A and NY-ESO-1 protein expression in an unselected cohort of 367 breast tumours (out of which 65 tumours were TN), with accompanying clinical follow-up data, using immunohistochemistry (IHC) analysis of tissue microarrays...
February 21, 2018: Histopathology
J Zhang, M Gong
Since discovered in 1994, leptin has been thought to be a pleiotropic hormone that regulates food intake, controls energy balance in the body and influences multiple tissues in the body. Leptin plays an important mediating role in the regulation of neuroendocrine and can transmit the nutritional status signals to the reproductive-related central nervous system. Many studies have shown that leptin may play an important role in the control of reproductive function. Leptin can act on all levels of the hypothalamus-pituitary-gonadal (HPG) axis and may have local effects on the function of testis and spermatogenesis...
February 20, 2018: Andrologia
Fumiaki Beppu, Hitomi Kondo, Satoshi Kasatani, Yoshinori Aoki, Naohiro Gotoh
In this study, we measured the quantity of marine-derived tocopherol (MDT), a monounsaturated vitamin E (VE), stored in the body tissue of mice fed with a diet containing a VE-rich fraction extracted from salmon roe. We first prepared the calibration curves for the MDT concentration using an HPLC-fluorescence system. Ranging from 0.016 to 50 μg/mL, the slope was expressed as first-order equations, with R2 values = 0.99. The mice were fed with an AIN-93 based diet containing MDT in doses of 21.4 mg/kg for 4 weeks, and the storage in the heart, lung, liver, stomach, small intestine, large intestine, kidney, pancreas, spleen, testis, skeletal muscle, visceral white adipose tissue (WAT), subcutaneous WAT and brain was quantified...
February 19, 2018: Journal of Oleo Science
Stacy Colaco, Deepak Modi
The human Y chromosome harbors genes that are responsible for testis development and also for initiation and maintenance of spermatogenesis in adulthood. The long arm of the Y chromosome (Yq) contains many ampliconic and palindromic sequences making it predisposed to self-recombination during spermatogenesis and hence susceptible to intra-chromosomal deletions. Such deletions lead to copy number variation in genes of the Y chromosome resulting in male infertility. Three common Yq deletions that recur in infertile males are termed as AZF (Azoospermia Factor) microdeletions viz...
February 17, 2018: Reproductive Biology and Endocrinology: RB&E
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