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Huifei Liu, William R Sukov, Jae Y Ro
CONTEXT: - Pleomorphic hyalinizing angiectatic tumor (PHAT) of soft parts, hemosiderotic fibrolipomatous tumor (HFLT), and myxoinflammatory fibroblastic sarcoma (MIFS) are 3 distinct entities of low-grade spindle cell mesenchymal neoplasm. These tumors have similar clinical presentations and partially overlapping but distinctive pathologic features. A recurrent translocation, t(1;10)(p22;q24), has been detected in a subset of PHAT, HFLT, MIFS, and HFLT/MIFS hybrid cases. Translocation t(1;10)(p22;q24) involves transforming growth factor beta-receptor 3 ( TGFBR3) and meningioma-expressed antigen 5 ( MGEA5) genes on chromosomes 1p22 and 10q24, respectively...
July 6, 2018: Archives of Pathology & Laboratory Medicine
Carolina Medina-Gomez, John P Kemp, Niki L Dimou, Eskil Kreiner, Alessandra Chesi, Babette S Zemel, Klaus Bønnelykke, Cindy G Boer, Tarunveer S Ahluwalia, Hans Bisgaard, Evangelos Evangelou, Denise H M Heppe, Lynda F Bonewald, Jeffrey P Gorski, Mohsen Ghanbari, Serkalem Demissie, Gustavo Duque, Matthew T Maurano, Douglas P Kiel, Yi-Hsiang Hsu, Bram C J van der Eerden, Cheryl Ackert-Bicknell, Sjur Reppe, Kaare M Gautvik, Truls Raastad, David Karasik, Jeroen van de Peppel, Vincent W V Jaddoe, André G Uitterlinden, Jonathan H Tobias, Struan F A Grant, Pantelis G Bagos, David M Evans, Fernando Rivadeneira
Bone mineral density is known to be a heritable, polygenic trait whereas genetic variants contributing to lean mass variation remain largely unknown. We estimated the shared SNP heritability and performed a bivariate GWAS meta-analysis of total-body lean mass (TB-LM) and total-body less head bone mineral density (TBLH-BMD) regions in 10,414 children. The estimated SNP heritability is 43% (95% CI: 34-52%) for TBLH-BMD, and 39% (95% CI: 30-48%) for TB-LM, with a shared genetic component of 43% (95% CI: 29-56%)...
July 25, 2017: Nature Communications
Yu-Chien Kao, Valentina Ranucci, Lei Zhang, Yun-Shao Sung, Edward A Athanasian, David Swanson, Brendan C Dickson, Cristina R Antonescu
Myxoinflammatory fibroblastic sarcoma (MIFS) is a low grade soft tissue sarcoma with a predilection for acral sites, being associated with a high rate of local recurrence but very infrequent distant metastases. Although a t(1;10) translocation resulting in TGFBR3-MGEA5 fusion has been reported as a recurrent genetic event in MIFS, this abnormality is seen only in a subset of cases. As no studies to date have investigated the spectrum of alternative genetic alterations in TGFBR3-MGEA5 fusion negative MIFS, we undertook a genetic analysis of this particular cohort for further molecular classification...
November 2017: American Journal of Surgical Pathology
Thomas A Masters, David A Tumbarello, Margarita V Chibalina, Folma Buss
APPL1- and RAB5-positive signaling endosomes play a crucial role in the activation of AKT in response to extracellular stimuli. Myosin VI (MYO6) and two of its cargo adaptor proteins, GIPC and TOM1/TOM1L2, localize to these peripheral endosomes and mediate endosome association with cortical actin filaments. Loss of MYO6 leads to the displacement of these endosomes from the cell cortex and accumulation in the perinuclear space. Depletion of this myosin not only affects endosome positioning, but also induces actin and lipid remodeling consistent with endosome maturation, including accumulation of F-actin and the endosomal lipid PI(3)P...
June 6, 2017: Cell Reports
Alexandre Torchio Dias, Évelin Aline Zanardo, Roberta Lelis Dutra, Flavia Balbo Piazzon, Gil Monteiro Novo-Filho, Marilia Moreira Montenegro, Amom Mendes Nascimento, Mariana Rocha, Fabricia Andreia Rosa Madia, Thais Virgínia Moura Machado Costa, Cintia Milani, Regina Schultz, Fernanda Toledo Gonçalves, Cintia Fridman, Guilherme Lopes Yamamoto, Débora Romeo Bertola, Chong Ae Kim, Leslie Domenici Kulikowski
Congenital anomalies are the second highest cause of infant deaths, and, in most cases, diagnosis is a challenge. In this study, we characterize patterns of DNA copy number aberrations in different samples of post-mortem tissues from patients with congenital malformations. Twenty-eight patients undergoing autopsy were cytogenomically evaluated using several methods, specifically, Multiplex Ligation-dependent Probe Amplification (MLPA), microsatellite marker analysis with a MiniFiler kit, FISH, a cytogenomic array technique and bidirectional Sanger sequencing, which were performed on samples of different tissues (brain, heart, liver, skin and diaphragm) preserved in RNAlater, in formaldehyde or by paraffin-embedding...
August 2016: Experimental and Molecular Pathology
Rebecca V Steenaard, Symen Ligthart, Lisette Stolk, Marjolein J Peters, Joyce B van Meurs, Andre G Uitterlinden, Albert Hofman, Oscar H Franco, Abbas Dehghan
BACKGROUND: Tobacco smoking, a risk factor for coronary artery disease (CAD), is known to modify DNA methylation. We hypothesized that tobacco smoking modifies methylation of the genes identified for CAD by genome-wide association study (GWAS). RESULTS: We selected genomic regions based on 150 single-nucleotide polymorphisms (SNPs) identified in the largest GWAS on CAD. We investigated the association between current smoking and the CpG sites within and near these CAD-related genes...
2015: Clinical Epigenetics
Emily K Herman, Giselle Walker, Mark van der Giezen, Joel B Dacks
Endosomal sorting complexes required for transport (ESCRTs) are heteromeric protein complexes required for multivesicular body (MVB) morphogenesis. ESCRTs I, II, III and III-associated are ubiquitous in eukaryotes and presumably ancient in origin. ESCRT 0 recruits cargo to the MVB and appears to be opisthokont-specific, bringing into question aspects of the current model of ESCRT mechanism. One caveat to the restricted distribution of ESCRT 0 was the previous limited availability of amoebozoan genomes, the supergroup closest to opisthokonts...
February 15, 2011: Journal of Cell Science
Tuanlao Wang, Ning Sheng Liu, Li-Fong Seet, Wanjin Hong
The maintenance of cellular homeostasis and execution of regulatory mechanisms to dynamically govern various cellular processes require the correct delivery of proteins to their target subcellular compartments. It is estimated that over 30% of the proteins encoded by the human genome, projected to encode about 25 000 proteins and other macromolecules, are delivered to the secretory and endocytic pathways where movement of proteins between various compartments is primarily mediated by vesicles/carriers budding from one compartment for delivery to another...
September 2010: Traffic
Chandra A Reynolds, Mun-Gwan Hong, Ulrika K Eriksson, Kaj Blennow, Fredrik Wiklund, Boo Johansson, Bo Malmberg, Stig Berg, Andrey Alexeyenko, Henrik Grönberg, Margaret Gatz, Nancy L Pedersen, Jonathan A Prince
We conducted dense linkage disequilibrium (LD) mapping of a series of 25 genes putatively involved in lipid metabolism in 1567 dementia cases [including 1270 with Alzheimer disease (AD)] and 2203 Swedish controls. Across a total of 448 tested genetic markers, the strongest evidence of association was as anticipated for APOE (rs429358 at P approximately 10(-72)) followed by a previously reported association of ABCA1 (rs2230805 at P approximately 10(-8)). In the present study, we report two additional markers near the SREBF1 locus on chromosome 17p that were also significant after multiple testing correction (best P = 3...
May 15, 2010: Human Molecular Genetics
Yuko Yanagida-Ishizaki, Tomomi Takei, Ray Ishizaki, Hitoshi Imakagura, Senye Takahashi, Hye-Won Shin, Yohei Katoh, Kazuhisa Nakayama
Tom1 (target of Myb 1) and its related proteins (Tom1L1/Srcasm and Tom1L2) constitute a protein family, which share an N-terminal VHS (Vps27, Hrs and STAM) domain and a following GAT (GGA and Tom1) domain. Tom1L1 has potential binding sequences for Tsg101, which is one of key regulators of the multivesicular body (MVB) formation. To obtain a clue to the role of Tom1L1 in the MVB formation, we have characterized the Tom1L1-Tsg101 interaction. We have found that not only the PTAP sequence in the GAT domain but also the PSAP sequence in the C-terminal region of Tom1L1 is responsible for its interaction with the UEV domain of Tsg101 and competes with the HIV-1 Gag protein for the Tsg101 interaction...
2008: Cell Structure and Function
Santhosh Girirajan, Paula M Hauck, Stephen Williams, Christopher N Vlangos, Barbara B Szomju, Sara Solaymani-Kohal, Philip D Mosier, Kimber L White, Kathleen McCoy, Sarah H Elsea
Studies have shown that the TOM1 family of proteins, including TOM1 and TOM1L1, are actively involved in endosomal trafficking and function in the immune response. However, much less is known about the function of TOM1L2. To understand the biological importance of TOM1L2 and the potential significance of its cellular role, we created and evaluated Tom1l2 gene-trapped mice with reduced Tom1l2 expression. Mice hypomorphic for Tom1l2 exhibited numerous infections and tumors compared to wild-type littermates. Associated with this increased risk for infection and tumor formation, apparently healthy Tom1l2 hypomorphs also had splenomegaly, elevated B- and T-cell counts, and an impaired humoral response, although at a reduced penetrance...
April 2008: Mammalian Genome: Official Journal of the International Mammalian Genome Society
Taiqiang Yan, Jay S Wunder, Nalan Gokgoz, Mona Gill, Sasha Eskandarian, Robert K Parkes, Shelley B Bull, Robert S Bell, Irene L Andrulis
BACKGROUND: Amplification of several genes that map to a region of chromosome 17p11.2, including COPS3, was observed in high-grade osteosarcoma. These genes were also shown to be overexpressed and may be involved in osteosarcoma tumorigenesis. COPS3 encodes a subunit of the COP9 signalosome implicated in the ubiquitination and ultimately degradation of the P53 tumor suppressor. To determine the relation between COPS3 amplification, P53 mutation, and patient outcome in osteosarcoma, tumors from a large cohort of patients with high-grade osteosarcoma and long-term clinical follow-up were examined...
May 1, 2007: Cancer
Mélanie Franco, Olivia Furstoss, Valérie Simon, Chrsitine Benistant, Wan Jing Hong, Serge Roche
The Src family of protein-tyrosine kinases (SFK) play important roles in mitogenesis and morphological changes induced by growth factors. The involved substrates are, however, ill defined. Using an antiphosphotyrosine antibody to screen tyrosine-phosphorylated cDNA expression library, we have identified Tom1L1, an adaptor protein of the Tom1 family and a novel substrate and activator of the SFK. Surprisingly, we found that Tom1L1 does not promote DNA synthesis induced by Src. Furthermore, we report that Tom1L1 negatively regulates SFK mitogenic signaling induced by platelet-derived growth factor (PDGF) through modulation of SFK-receptor association: (i) Tom1L1 inhibits DNA synthesis induced by PDGF; (ii) inhibition is overcome by c-myc expression or p53 inactivation, two regulators of SFK mitogenic function; (iii) Src or Fyn coexpression overrides Tom1L1 mitogenic activity; (iv) overexpression of the adaptor reduces Src association with the receptor; and (v) protein inactivation potentiates receptor complex formation, allowing increased SFK activation and DNA synthesis...
March 2006: Molecular and Cellular Biology
Yohei Katoh, Hitoshi Imakagura, Mutsumi Futatsumori, Kazuhisa Nakayama
Tom1 (target of Myb 1) and its related proteins (Tom1L1/Srcasm and Tom1L2) constitute a protein family and share an N-terminal VHS (Vps27p/Hrs/Stam) domain and a following GAT (GGA and Tom1) domain, both of which are also conserved in the GGA family proteins. However, the C-terminal half is not significantly conserved between the Tom1 and GGA families or even between Tom1 and Tom1L1. We have previously shown that the GAT domain of Tom1 interacts with Tollip (Toll-interacting protein), which is associated with endosomes, to which it recruits Tom1...
March 3, 2006: Biochemical and Biophysical Research Communications
Rosa Puertollano
Tom1L1 (Tom1-like1) and related proteins Tom1 (Target of Myb1) and Tom1L2 (Tom1-like2) constitute a new protein family characterized by the presence of a VHS (Vps27p/Hrs/Stam) domain in the N-terminal portion followed by a GAT (GGA and Tom) domain. Recently it was demonstrated that the GAT domain of both Tom1 and Tom1L1 binds ubiquitin, suggesting that these proteins might participate in the sorting of ubiquitinated proteins into multivesicular bodies (MVBs). Here we report a novel interaction between Tom1L1 and members of the MVB sorting machinery...
March 11, 2005: Journal of Biological Chemistry
Jassu Atiye, Maija Wolf, Sippy Kaur, Outi Monni, Tom Böhling, Aarne Kivioja, Eva Tas, Massimo Serra, Maija Tarkkanen, Sakari Knuutila
Little is known about the genomic alterations underlying osteosarcoma. We performed a genomewide high-resolution gene copy number analysis of 22 osteosarcoma samples using comparative genomic hybridization on a cDNA microarray that contained cDNA clones of about 13,000 genes. Nineteen of the 22 cases had amplifications that on average spanned more than 1 Mb and contained more than 10 genes. Numerous regions of gain and loss were identified, and their boundaries were defined at high resolution. Novel amplicons were found at 14q11, 17q25, and 22q11-q13...
February 2005: Genes, Chromosomes & Cancer
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