scholarly journals Photoperiod-Specific Expression of Eyes Absent 3 Splice Variant in the Pars Tuberalis of the Japanese Quail

2020 ◽  
Author(s):  
Nobuhiro Nakao ◽  
Kei Nakagawa ◽  
Asuna Sasaki ◽  
Arisa Yamaguchi ◽  
Nobumichi Tsushima ◽  
...  
Keyword(s):  
Japanese Quail ◽  
Splice Variant ◽  
Pars Tuberalis ◽  
Specific Expression ◽  
Eyes Absent

scholarly journals A Novel Tissue and Stem Cell Specific TERF1 Splice Variant Is Downregulated in Tumour Cells

2019 ◽  
Vol 21 (1) ◽  
pp. 85
Author(s):  
Yousef Ashraf Tawfik Morcos ◽  
Gregoire Najjar ◽  
Sabine Meessen ◽  
Britta Witt ◽  
Anca Azoitei ◽  
...  
Keyword(s):  
Stem Cells ◽  
Cell Lines ◽  
Splice Variant ◽  
Polyclonal Antibodies ◽  
Genome Comparison ◽  
Rna Expression ◽  
Specific Expression ◽  
Hematopoietic Stem ◽  
C Terminus ◽  
The Impact

In this study, we describe the identification of a novel splice variant of TERF1/PIN2, one of the main components of the telomeric shelterin complex. This new splice variant is identical to TERF1, apart from a 30 amino acid internal insertion near to the C-terminus of TERF1. Based on genome comparison analyses and RNA expression data, we show that this splice variant is conserved among hominidae but absent from all other species. RNA expression and histological analyses show specific expression in human spermatogonial and hematopoietic stem cells (HSCs), while all other analyzed tissues lack the expression of this TERF1-isoform, hence the name TERF1-tsi (TERF1-tissue-specific-isoform). In addition, we could not detect any expression in primary human cells and established cancer cell lines. Immunohistochemistry results involving two new rabbit polyclonal antibodies, generated against TERF1-tsi specific peptides, indicate nuclear localization of TERF1-tsi in a subset of spermatogonial stem cells. In line with this observation, immunofluorescence analyzes in various cell lines consistently revealed that ectopic TERF1-tsi localizes to the cell nucleus, mainly but not exclusively at telomeres. In a first attempt to evaluate the impact of TERF1-tsi in the testis, we have tested its expression in normal testis samples versus matched tumor samples from the same patients. Both RT-PCR and IHC show a specific downregulation of TERF1-tsi in tumor samples while the expression of TERF1 and PIN2 remains unchanged.

scholarly journals Skin-Specific Expression of ank-393, a Novel Ankyrin-3 Splice Variant

2001 ◽  
Vol 116 (2) ◽  
pp. 216-223 ◽  
Author(s):  
Bettina Peters ◽  
Thomas M. Magin ◽  
Hans Wilhelm Kaiser
Keyword(s):  
Splice Variant ◽  
Specific Expression

scholarly journals Tissue‐ and cell‐specific expression of a splice variant in the II‐III cytoplasmic loop of Cacna1b

FEBS Open Bio ◽  
2019 ◽  
Vol 9 (9) ◽  
pp. 1603-1616
Author(s):  
Alexandra Bunda ◽  
Brianna LaCarubba ◽  
Marie Akiki ◽  
Arturo Andrade
Keyword(s):  
Splice Variant ◽  
Cytoplasmic Loop ◽  
Specific Expression

scholarly journals Intron Retention: A Common Splicing Event within the Human Kallikrein Gene Family

2005 ◽  
Vol 51 (3) ◽  
pp. 506-515 ◽  
Author(s):  
Iacovos P Michael ◽  
Lisa Kurlender ◽  
Nader Memari ◽  
George M Yousef ◽  
Daisy Du ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Gene Family ◽  
Splice Variant ◽  
Hormonal Regulation ◽  
Splice Variants ◽  
Intron Retention ◽  
Expression Profiles ◽  
Catalytic Triad ◽  
Cancer Diagnostics ◽  
Specific Expression

Abstract Background: All human kallikrein (KLK) genes have at least one splice variant, some of which possess clinical utility in cancer diagnostics/prognostics. Given that introns <100 bp in length are retained in 95% of human genes and that splice variants of KLK3 and KLK4 retain intron III, we hypothesized that other proteins in this family, with a small intron III, may also retain it. Methods: Variant-specific reverse transcription-PCRs (RT-PCRs) for KLK1, KLK2, KLK5, and KLK15 were used to identify and clone the full coding sequence of intron III-containing splice variants. In addition, variant-specific RT-PCRs for the cloned KLK3 and KLK4 variants as well as for the “classical” forms of the six genes were used to determine their expression profiles in healthy tissues, their regulation by steroids, and their differential expression in prostate cancer. Results: KLK1, KLK2, KLK3, KLK4, KLK5, and KLK15 showed a common type of splice variant in which intron III is retained. Expression profiling of these splice variants revealed expression profiles similar to those of the classical mRNA forms, although the pattern of hormonal regulation was different. The KLK15 splice variant was up-regulated in 8 of 12 cancerous prostate tissues. All encoded variant proteins were predicted to be truncated and catalytically inactive because of a lack of the serine residue of the catalytic triad. Conclusions: The first six centromeric members of the KLK gene family have splice variants that retain intron III. Some variants show tissue-specific expression. The KLK15 splice variant appears to be a candidate biomarker for prostate cancer.

scholarly journals Circadian clock mechanism driving mammalian photoperiodism

2020 ◽  
Author(s):  
S.H. Wood ◽  
M.M. Hindle ◽  
Y. Mizoro ◽  
Y. Cheng ◽  
B.R.C. Saer ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Circadian Clock ◽  
Pars Tuberalis ◽  
Eyes Absent ◽  
Environmental Cue ◽  
Long Duration ◽  
Genome Wide ◽  
Seasonal Habitats ◽  
Circadian Transcription ◽  
Clock Mechanism

AbstractThe annual photoperiod cycle provides the critical environmental cue synchronizing rhythms of life in seasonal habitats. In 1936, Bünning proposed a circadian-based coincidence timer for photoperiodic synchronization in plants. Formal studies support the universality of this so-called coincidence timer, but we lack understanding of the mechanisms involved. Here we show in mammals that long photoperiods induce the circadian transcription factor BMAL2, in the pars tuberalis of the pituitary, and triggers summer biology through the eyes absent / thyrotrophin (EYA3 / TSH) pathway. Conversely, long-duration melatonin signals on short photoperiods induce circadian repressors including DEC1, suppressing BMAL2 and the EYA3/TSH pathway, triggering winter biology. These actions are associated with progressive genome-wide changes in chromatin state, elaborating the effect of the circadian coincidence timer. Hence, circadian clock-pituitary epigenetic pathway interactions form the basis of the mammalian coincidence timer mechanism. Our results constitute a blueprint for circadian-based seasonal timekeeping in vertebrates.

scholarly journals SLC14 family of facilitative urea transporters (version 2019.4) in the IUPHAR/BPS Guide to Pharmacology Database

2019 ◽  
Vol 2019 (4) ◽  
Author(s):  
Gavin Stewart
Keyword(s):  
Experimental Evidence ◽  
Concentration Gradient ◽  
Splice Variant ◽  
Molecular Level ◽  
Splice Variants ◽  
The Body ◽  
Protein Catabolism ◽  
Extracellular Loop ◽  
Specific Expression ◽  
C And N

As a product of protein catabolism, urea is moved around the body and through the kidneys for excretion. Although there is experimental evidence for concentrative urea transporters, these have not been defined at the molecular level. The SLC14 family are facilitative transporters, allowing urea movement down its concentration gradient. Multiple splice variants of these transporters have been identified; for UT-A transporters, in particular, there is evidence for cell-specific expression of these variants with functional impact [3]. Topographical modelling suggests that the majority of the variants of SLC14 transporters have 10 TM domains, with a glycosylated extracellular loop at TM5/6, and intracellular C- and N-termini. The UT-A1 splice variant, exceptionally, has 20 TM domains, equivalent to a combination of the UT-A2 and UT-A3 splice variants.

The development of melatonin-binding sites in the ovine fetus

1994 ◽  
Vol 142 (3) ◽  
pp. 475-484 ◽  
Author(s):  
R J A Helliwell ◽  
L M Williams
Keyword(s):  
G Protein ◽  
Binding Sites ◽  
Early Stage ◽  
Specific Binding ◽  
Melatonin Receptors ◽  
Pars Tuberalis ◽  
Dependent Manner ◽  
Pars Distalis ◽  
Specific Expression ◽  
Fetal Sheep

Abstract The pineal hormone, melatonin, is important in the timing of seasonal reproduction in the sheep. Melatonin of maternal origin readily crosses the placenta; its function in the fetal sheep is, however, unclear. To gain an insight into the role of melatonin in ovine development we have identified specific melatonin receptors throughout gestation using 2-[125I]iodomelatonin and quantitative in vitro autoradiography. Specific binding was found at the earliest time studied at 30 days of gestation, over the developing thyroid (term=145 days). At 31 days of gestation specific labelling was found over the thyroid and pituitary glands, the spinal nerves, nasal cavity and developing bronchi. This binding was diminished by over 50% in the presence of 10−4 m GTPγS (an analogue of guanosine triphosphate) indicating that the 2-[125I]iodomelatonin binding at this early stage of gestation represents a receptor coupled to a regulatory G-protein. By 40 days of gestation specific binding was found over the nasal epithelium, cochlear epithelium, regions of the brain, especially the hind brain and the vestibulocochlear and glossopharyngeal nerves, and both the pars distalis and pars tuberalis of the pituitary. As gestation proceeded, labelling over the pars distalis appeared to become more scattered in nature while that on the pars tuberalis remained consistent. Saturation studies of both the neuronal and pituitary binding sites at 121 days of gestation and in the newborn lamb revealed a single class of high-affinity binding sites with Kd values in the picomolar range. Also at 121 days of gestation, binding over the fetal pars tuberalis was diminished in a dose-dependent manner by GTPγS, again confirming that specific binding is indicative of a receptor coupled to a regulatory G-protein. These data demonstrate a potential for sensitivity to melatonin from early in gestation, as well as the developmentally specific expression of the melatonin receptor in certain tissues, and suggest a wider role for melatonin in ovine fetal development than previously considered. Journal of Endocrinology (1994) 142, 475–484

scholarly journals Photoinducible Phase-Specific Light Induction ofCry1Gene in the Pars Tuberalis of Japanese Quail

Endocrinology ◽  
2004 ◽  
Vol 145 (4) ◽  
pp. 1612-1616 ◽  
Author(s):  
Shinobu Yasuo ◽  
Miwa Watanabe ◽  
Akira Tsukada ◽  
Tsuyoshi Takagi ◽  
Masayuki Iigo ◽  
...  
Keyword(s):  
Japanese Quail ◽  
Pars Tuberalis ◽  
Light Induction

scholarly journals TMOD-30. CHARACTERIZATION OF AN ALTERNATIVELY SPLICED NTRK2 VARIANT IN GLIOMAS

2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi269-vi269
Author(s):  
Siobhan Pattwell ◽  
Sonali Arora ◽  
P J Cimino ◽  
Frank Szulzewsky ◽  
Pia Hoellerbauer ◽  
...  
Keyword(s):  
Human Brain ◽  
Splice Variant ◽  
Clinical Investigation ◽  
The Cancer Genome Atlas ◽  
Human Gliomas ◽  
Specific Expression ◽  
Normal Human Brain ◽  
Wide Range ◽  
Normal Human

Abstract Recent work has uncovered oncogenic TRK fusions in a wide range of cancer types, including adult and pediatric gliomas. With some exceptions, many of these fusions tend to occur at very low frequencies below 1–2%, with unclear clinical significance, yet they highlight a potentially important and rapidly evolving role for NTRK1, NTRK2, NTRK3 in glioma biology. Basic scientific and clinical investigation surrounding TRKs’ role in cancer has often been hindered due to the nonspecific nature of antibodies and kinase inhibitors, combined with a lack of precise exon-specific expression data from patient populations. Tropomyosin receptor B (TrkB), encoded by the NTRK2 gene, is most known for its established roles in neuronal survival, proliferation, differentiation, apoptosis, learning, and memory. TrkB exerts diverse effects on cellular outcomes through interactions with downstream signaling cascades and has been shown to exhibit complex alternative splicing patterns. Here we show a novel role for a TrkB splice variant in human gliomas via NTRK2 transcript analyses in normal human brain and gliomas using The Cancer Genome Atlas (TCGA) and Genotype-Tissue Expression Project (GTEx). Using a novel antibody designed against this splice variant, immunostaining shows altered receptor localization within human gliomas compared to normal human brain. This NTRK2 splice variant enhances PDGF-driven gliomas in vivo in an RCAS-TVA mouse model and augments PDGF-induced signaling in vitro. Through the lens of NTRK2, these results highlight the importance of expanding upon whole gene-level and kinase-fusion analyses to explore TRK splicing in basic and translational research.

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