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https://www.readbyqxmd.com/read/29335530/segregation-of-mitochondrial-dna-heteroplasmy-through-a-developmental-genetic-bottleneck-in-human-embryos
#1
Vasileios I Floros, Angela Pyle, Sabine Dietmann, Wei Wei, Walfred W C Tang, Naoko Irie, Brendan Payne, Antonio Capalbo, Laila Noli, Jonathan Coxhead, Gavin Hudson, Moira Crosier, Henrik Strahl, Yacoub Khalaf, Mitinori Saitou, Dusko Ilic, M Azim Surani, Patrick F Chinnery
Mitochondrial DNA (mtDNA) mutations cause inherited diseases and are implicated in the pathogenesis of common late-onset disorders, but how they arise is not clear1,2. Here we show that mtDNA mutations are present in primordial germ cells (PGCs) within healthy female human embryos. Isolated PGCs have a profound reduction in mtDNA content, with discrete mitochondria containing ~5 mtDNA molecules. Single-cell deep mtDNA sequencing of in vivo human female PGCs showed rare variants reaching higher heteroplasmy levels in late PGCs, consistent with the observed genetic bottleneck...
January 15, 2018: Nature Cell Biology
https://www.readbyqxmd.com/read/29335528/exd2-governs-germ-stem-cell-homeostasis-and-lifespan-by-promoting-mitoribosome-integrity-and-translation
#2
Joana Silva, Suvi Aivio, Philip A Knobel, Laura J Bailey, Andreu Casali, Maria Vinaixa, Isabel Garcia-Cao, Étienne Coyaud, Alexis A Jourdain, Pablo Pérez-Ferreros, Ana M Rojas, Albert Antolin-Fontes, Sara Samino-Gené, Brian Raught, Acaimo González-Reyes, Lluís Ribas de Pouplana, Aidan J Doherty, Oscar Yanes, Travis H Stracker
Mitochondria are subcellular organelles that are critical for meeting the bioenergetic and biosynthetic needs of the cell. Mitochondrial function relies on genes and RNA species encoded both in the nucleus and mitochondria, and on their coordinated translation, import and respiratory complex assembly. Here, we characterize EXD2 (exonuclease 3'-5' domain-containing 2), a nuclear-encoded gene, and show that it is targeted to the mitochondria and prevents the aberrant association of messenger RNAs with the mitochondrial ribosome...
January 15, 2018: Nature Cell Biology
https://www.readbyqxmd.com/read/29333015/a-profile-of-pediatric-solid-tumors-a-single-institution-experience-in-kashmir
#3
Namita Sharma, Ayesha Ahmad, Gull M Bhat, Sheikh A Aziz, Mohammad Maqbool Lone, Nisar A Bhat
Aims: The purpose of this retroprospective study was to study the epidemiological characteristics and outcomes of children with solid tumors at our institution. Subjects and Methods: Three hundred and three pediatrics patients registered at Regional Cancer Centre (RCC), Sher-i-Kashmir Institute of Medical Sciences (SKIMS), Srinagar, Kashmir, between January 2008 and June 2014, were analyzed with regard to demographic status, presenting complaints, investigations, treatment, morbidity, and outcomes...
October 2017: Indian Journal of Medical and Paediatric Oncology
https://www.readbyqxmd.com/read/29328972/establishment-of-tusmi003-a-an-induced-pluripotent-stem-cell-ipsc-line-from-a-62-year-old-chinese-han-patient-with-alzheimer-s-disease-with-apoe3-4-genetic-background
#4
Ying Wang, Hongxiang Yu, Yue Zhang, Jing Zhang, Keni Chen, Heng Sun, Shulin Meng, Gang Li, Ying Lei, Jian Zhao
A 62-year old Chinese Han Alzheimer's disease (AD) female patient with ApoE3/4 genetic background donated her Peripheral blood mononuclear cells (PBMC). The non-integrating episomal vector system was used to reprogrammed PBMCs with the human OKSM transcription factors. The pluripotency of transgene-free iPSCs was confirmed by immunocytochemistry for pluripotency markers and by the ability of the iPSCs to differentiate spontaneously into 3 germ layers in vitro. In addition, the iPSC line displayed a normal karyotype...
January 4, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29326167/the-protein-kinase-ck2-substrate-jabba-modulates-lipid-metabolism-during-drosophila-oogenesis
#5
Emily A McMillan, Sheila M Longo, Michael D Smith, Sarah Broskin, Baicheng Lin, Nisha K Singh, Todd I Strochlic
Lipid metabolism plays a critical role in female reproduction. During oogenesis, maturing oocytes accumulate high levels of neutral lipids that are essential for both energy production and for the synthesis of other lipid molecules. Metabolic pathways within the ovary are partially regulated by protein kinases that link metabolic status to oocyte development. While the functions of several kinases in this process are well established, the roles that many other kinases play in coordinating metabolic state with female germ cell development are unknown...
January 11, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29324788/esrp1-is-a-marker-of-mouse-fetal-germ-cells-and-differentially-expressed-during-spermatogenesis
#6
Shaghayegh Saeidi, Farnaz Shapouri, Robb U de Iongh, Franca Casagranda, Jessie M Sutherland, Patrick S Western, Eileen A McLaughlin, Mary Familari, Gary R Hime
ESRP1 regulates alternative splicing, producing multiple transcripts from its target genes in epithelial tissues. It is upregulated during mesenchymal to epithelial transition associated with reprogramming of fibroblasts to iPS cells and has been linked to pluripotency. Mouse fetal germ cells are the founders of the adult gonadal lineages and we found that Esrp1 mRNA was expressed in both male and female germ cells but not in gonadal somatic cells at various stages of gonadal development (E12.5-E15.5). In the postnatal testis, Esrp1 mRNA was highly expressed in isolated cell preparations enriched for spermatogonia but expressed at lower levels in those enriched for pachytene spermatocytes and round spermatids...
2018: PloS One
https://www.readbyqxmd.com/read/29288215/klu-suppresses-megasporocyte-cell-fate-through-swr1-mediated-activation-of-wrky28-expression-in-arabidopsis
#7
Lihua Zhao, Hanyang Cai, Zhenxia Su, Lulu Wang, Xinyu Huang, Man Zhang, Piaojuan Chen, Xiaozhuan Dai, Heming Zhao, Ravishankar Palanivelu, Xuemei Chen, Yuan Qin
Germ-line specification is essential for sexual reproduction. In the ovules of most flowering plants, only a single hypodermal cell enlarges and differentiates into a megaspore mother cell (MMC), the founder cell of the female germ-line lineage. The molecular mechanisms restricting MMC specification to a single cell remain elusive. We show that the Arabidopsis transcription factor WRKY28 is exclusively expressed in hypodermal somatic cells surrounding the MMC and is required to repress these cells from acquiring MMC-like cell identity...
December 29, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29281008/testicular-organoids-a-new-model-to-study-the-testicular-microenvironment-in-vitro
#8
João Pedro Alves-Lopes, Jan-Bernd Stukenborg
BACKGROUND: In recent decades, a broad range of strategies have been applied to model the testicular microenvironment in vitro. These models have been utilized to study testicular physiology and development. However, a system that allows investigations into testicular organogenesis and its impact in the spermatogonial stem-cell (SSC) niche in vitro has not been developed yet. Recently, the creation of tissue-specific organ-like structures called organoids has resurged, helping researchers to answer scientific questions that previous in vitro models could not help to elucidate...
December 21, 2017: Human Reproduction Update
https://www.readbyqxmd.com/read/29278721/the-pax-protein-eyegone-eyg-interacts-with-the-pi-rna-component-aubergine-aub-and-controls-egg-chamber-development-in-drosophila
#9
David Blom-Dahl, Natalia Azpiazu
The eyegone (eyg) gene encodes Eyg, a transcription factor of the Pax family with multiple roles during Drosophila development. Eyg has been shown to be nuclear in the cells where it functions. In this report we describe a new functional cytoplasmic distribution of Eyg during egg chamber development in the female ovarioles. The protein is present from the germarium until stage 10 of cyst development. The majority of egg chambers that develop in the absence of Eyg arrest their development before stage 10, show augmented levels of the telomeric retro-transposon TART-A and low levels of heterochromatin marks in the oocyte nucleus...
December 23, 2017: Developmental Biology
https://www.readbyqxmd.com/read/29274886/establishment-of-human-ipsc-line-nccsi003-a-from-cd34-cells-of-peripheral-blood-collected-during-apheresis-of-healthy-donor-from-indian-ethnicity
#10
Sophia Fernandes, Shruti Tembe, Prajakta Shinde, Sameer Melinkeri, Vaijayanti Kale, Lalita Limaye
We present generation of iPSCs from CD34+ cells isolated from peripheral blood, collected during apheresis of a healthy female individual. We nucleofected the CD34+cells by episomal vectors containing Oct4, Sox2, L-Myc, Lin28, Klf4 and p53DD (dominant negative mutation in p53). The resultant colonies showed cobble-stone appearance and stained positive for alkaline phosphatase. The colonies demonstrated presence of pluripotency markers by immunofluorescence, flow-cytometry and PCR. The plasmids were lost from cells subsequently during passages as assessed by PCR...
December 20, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29274449/proton-mrs-detection-of-high-lipid-levels-and-low-adc-is-characteristics-of-germinoma
#11
Fumiyuki Yamasaki, Yasuyuki Kinoshita, Takeshi Takayasu, Satoshi Usui, Manish Kolakshyapati, Motoki Takano, Sayuru Tsuyuguchi, Vishwa Jeet Amatya, Yuji Akiyama, Yukio Takeshima, Kazuhiko Sugiyama, Kaoru Kurisu
BACKGROUND: The differentiation of germinoma from other tumors by conventional MRI can be very difficult. The purpose of our study was to determine if proton magnetic resonance spectroscopy and diffusion-weighted imaging could give additional information for definitive diagnosis of germinoma. MATERIALS AND METHODS: Our institutional review board approved this retrospective study. We reviewed the images of 26 patients with histologically confirmed germinoma who were treated in our institution between 2003 and 2016...
December 20, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29247201/sox30-is-required-for-male-fertility-in-mice
#12
Chun-Wei Allen Feng, Cassy Spiller, Donna J Merriner, Moira K O'Bryan, Josephine Bowles, Peter Koopman
Male infertility is a major and growing problem and, in most cases, the specific root cause is unknown. Here we show that the transcription factor SOX30 plays a critical role in mouse spermatogenesis. Sox30-null mice are healthy and females are fertile, but males are sterile. In the absence of Sox30 meiosis initiates normally in both sexes but, in males, germ cell development arrests during the post-meiotic round spermatid period. In the mutant testis, acrosome and axoneme development are aberrant, multinucleated germ cells (symplasts) form and round spermatids unable to process beyond step 3 of spermiogenesis...
December 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29246570/integration-free-induced-pluripotent-stem-cells-derived-from-a-patient-with-autosomal-recessive-alport-syndrome-aras
#13
Bernd Kuebler, Begoña Aran, Laia Miquel-Serra, Yolanda Muñoz, Elisabet Ars, Gemma Bullich, Monica Furlano, Roser Torra, Merce Marti, Anna Veiga, Angel Raya
A skin biopsy was obtained from a 25-year-old female patient with autosomal recessive Alport syndrome (ARAS) with the homozygous COL4A3 mutation c.345delG, p.(P166Lfs*37). Dermal fibroblasts were derived and reprogrammed by nucleofection with episomal plasmids carrying OCT3/4, SOX2, KLF4 LIN28, L-MYC and p53shRNA. The generated induced Pluripotent Stem Cell (iPSC) clone AS FiPS1 Ep6F-2 was free of genomically integrated reprogramming genes, had the specific homozygous mutation, a stable karyotype, expressed pluripotency markers and generated embryoid bodies which were differentiated towards the three germ layers in vitro...
December 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29244016/oleic-acid-in-the-modulation-of-oocyte-and-preimplantation-embryo-development
#14
Shabnam Fayezi, Jo L M R Leroy, Marefat Ghaffari Novin, Masoud Darabi
Potential reproductive effects are considered as the major aspect of biomolecules functionality in an organism. The recent identification of differential patterns of fatty acids across ovarian follicles and their association with levels of sexual maturity highlights the importance of these biomolecules. It is well known that fatty acids are highly diverse in terms of their functional properties. Oleic acid is chemically classified as an unsaturated omega-9 fatty acid. Besides serving as an important energy source, oleic acid is involved in metabolic and structural roles...
December 15, 2017: Zygote: the Biology of Gametes and Early Embryos
https://www.readbyqxmd.com/read/29242197/jak-signaling-regulates-germline-cyst-breakdown-and-primordial-follicle-formation-in-mice
#15
Kun Huang, Ye Wang, Tuo Zhang, Meina He, Guanghong Sun, Jia Wen, Hao Yan, Han Cai, Changfu Yong, Guoliang Xia, Chao Wang
In female mammals, primordial follicles consist of two types of cells, namely, oocytes and pregranulosa cells that surround the oocytes. The size of the primordial follicle pool determines the reproductive ability of female mammals. However, the underlying mechanisms controlling primordial follicle assembly remain unclear. In this study, we show that oocyte-derived Janus kinase (JAK) signaling is vital for germline cyst breakdown and primordial follicle formation in vitro JAK2 and JAK3 activity is increased while germline cysts are breaking down...
December 14, 2017: Biology Open
https://www.readbyqxmd.com/read/29237021/human-specific-subcellular-compartmentalization-of-p-element-induced-wimpy-testis-like-piwil-granules-during-germ-cell-development-and-spermatogenesis
#16
Maria Gomes Fernandes, Nannan He, Fang Wang, Liesbeth Van Iperen, Cristina Eguizabal, Roberto Matorras, Bernard A J Roelen, Susana M Chuva De Sousa Lopes
STUDY QUESTION: What is the dynamics of expression of P-element induced wimpy testis-like (PIWIL) proteins in the germline during human fetal development and spermatogenesis? SUMMARY ANSWER: PIWIL1, PIWIL2, PIWIL3 and PIWIL4 were expressed in a sex-specific fashion in human germ cells (GC) during development and adulthood. PIWILs showed a mutually exclusive pattern of subcellular localization. PIWILs were present in the intermitochondrial cement and a single large granule in meiotic GC and their expression was different from that observed in mice, highlighting species-differences...
December 11, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29227254/-modern-approaches-to-diagnosis-and-treatment-of-tumors-of-female-genitals-of-children-and-adolescents-review
#17
A Solopova, A Makatsaryia, O Yakovleva, V Moskvicheva
The article discusses the features of epidemiology, morphology, clinical course and modern principles of diagnostics and treatment of tumors of female genitals of children and adolescents. Special attention is paid to ovarian germ cell tumors. The use of immunohistochemical and tumor markers enables the differential diagnosis among malignant ovarian germ cell tumors. Nowadays surgical methods, chemotherapy and radiation therapy are applied in treatment of tumors of female genitals. The main standard of surgical operation of ovarian tumors is removal of appendages on the side of the affection...
November 2017: Georgian Medical News
https://www.readbyqxmd.com/read/29217907/synchronous-breast-cancer-and-gallbladder-diseases-a-chromosomal-analysis-a-pilot-study-at-a-tertiary-care-centre
#18
Devendra Chaudhary, Rahul Ahluwalia, Arvind Rai
Out of a total of 50 study-eligible patients, 15 patients were found to have synchronous breast cancer and gallbladder diseases. Fourteen such patients had breast cancer and cholelithiasis while 1 patient had breast cancer with gallbladder cancer. Amongst these 15 patients, 7 patients tested positive for chromosomal aberrations on karyotyping. Aberrations in these patients were seen on chromosomes 13 and 17 with 2 patients having deletion 13q, 2 having deletion 17q, and 2 having deletions on 17p while one patient had multiple deletions on chromosomes 13q and 17p...
December 2017: Indian Journal of Surgery
https://www.readbyqxmd.com/read/29208639/reconstitution-of-female-germ-cell-fate-determination-and-meiotic-initiation-in-mammals
#19
So I Nagaoka, Mitinori Saitou
Meiosis is a fundamental process that underpins sexual reproduction. In mammals, the execution of meiosis is tightly integrated within the complex processes of oogenesis and spermatogenesis, and elucidation of the molecular mechanisms regulating meiotic initiation remains challenging. We have recently developed in vitro culture strategies to induce mouse pluripotent stem cells into germ cells, which successfully contribute to both oogenesis and spermatogenesis and to fertile offspring. The culture strategies faithfully recapitulate transcriptional and epigenetic dynamics as well as signaling principles for germ cell specification, proliferation, and female sex determination/meiotic induction, providing a valuable platform for studies to illuminate the molecular mechanisms underlying such critical processes...
December 5, 2017: Cold Spring Harbor Symposia on Quantitative Biology
https://www.readbyqxmd.com/read/29204019/histologically-confirmed-intracranial-tumors-managed-at-enugu-nigeria
#20
Chika Anele Ndubuisi, Samuel C Ohaegbulam, Linda U Iroegbu, Mike Ezeali Ekuma, Wilfred C Mezue, Uwadiegwu Alphonsus Erechukwu
Background: There is controversy about the global distribution of intracranial tumors (ICTs). The previous reports from Africa suggested low frequency and different pattern of distribution of brain tumors from what obtains in other continents. The limitations at that time, including paucity of diagnostic facilities and personnel, have improved. Objective: The objective of this study is to analyze the current trend and distribution of histology confirmed brain tumors managed in Enugu, in a decade...
October 2017: Journal of Neurosciences in Rural Practice
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