Enhancer Variants Associated With
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Genomic Correlates of Relationship QTL Involved in Fore- Versus Hind Limb Divergence in Mice
Loyola University Chicago Loyola eCommons Biology: Faculty Publications and Other Works Faculty Publications 2013 Genomic Correlates of Relationship QTL Involved in Fore- Versus Hind Limb Divergence in Mice Mihaela Palicev Gunter P. Wagner James P. Noonan Benedikt Hallgrimsson James M. Cheverud Loyola University Chicago, [email protected] Follow this and additional works at: https://ecommons.luc.edu/biology_facpubs Part of the Biology Commons Recommended Citation Palicev, M, GP Wagner, JP Noonan, B Hallgrimsson, and JM Cheverud. "Genomic Correlates of Relationship QTL Involved in Fore- Versus Hind Limb Divergence in Mice." Genome Biology and Evolution 5(10), 2013. This Article is brought to you for free and open access by the Faculty Publications at Loyola eCommons. It has been accepted for inclusion in Biology: Faculty Publications and Other Works by an authorized administrator of Loyola eCommons. For more information, please contact [email protected]. This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 License. © Palicev et al., 2013. GBE Genomic Correlates of Relationship QTL Involved in Fore- versus Hind Limb Divergence in Mice Mihaela Pavlicev1,2,*, Gu¨ nter P. Wagner3, James P. Noonan4, Benedikt Hallgrı´msson5,and James M. Cheverud6 1Konrad Lorenz Institute for Evolution and Cognition Research, Altenberg, Austria 2Department of Pediatrics, Cincinnati Children‘s Hospital Medical Center, Cincinnati, Ohio 3Yale Systems Biology Institute and Department of Ecology and Evolutionary Biology, Yale University 4Department of Genetics, Yale University School of Medicine 5Department of Cell Biology and Anatomy, The McCaig Institute for Bone and Joint Health and the Alberta Children’s Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary, Canada 6Department of Anatomy and Neurobiology, Washington University *Corresponding author: E-mail: [email protected]. -
Linkage Analysis of Candidate Loci for End-Stage Renal Disease Due to Diabetic Nephropathy
J Am Soc Nephrol 14: S195–S201, 2003 Linkage Analysis of Candidate Loci for End-Stage Renal Disease due to Diabetic Nephropathy SUDHA K. IYENGAR,*† KATHERINE A. FOX,*† MARLENE SCHACHERE,*† FAUZIA MANZOOR,*† MARY E. SLAUGHTER,*† ADRIAN M. COVIC,†‡ S. MOHAMMED ORLOFF,*† PATRICK S. HAYDEN,†‡ JANE M. OLSON,*† JEFFREY R. SCHELLING,†‡ and JOHN R. SEDOR†‡ Departments of *Epidemiology and Biostatistics, and ‡Medicine, Case Western Reserve University, and †Rammelkamp Center for Research and Education, MetroHealth Medical Center, Cleveland, Ohio. Abstract. Diabetic nephropathy (DN), a major cause of ESRD, ate in the final linkage analysis. To date, we have collected 212 is undoubtedly multifactorial and is caused by environmental sib pairs from 46 CA and 50 AA families. The average age of and genetic factors. To identify a genetic basis for DN suscep- diabetes onset was 46.8 yr versus 36.2 yr for CA and 39.5 yr tibility, we are collecting multiplex DN families in the Cauca- versus 40.2 yr for AA, in males versus females respectively. sian (CA) and African-American (AA) populations for whole Genotyping data were available for 106 sib pairs (43 CA, 63 genome scanning and candidate gene analysis. A candidate AA) from 27 CA (44% male probands) and 38 AA families gene search of diabetic sibs discordantly affected, concordantly (43% male probands). Average AA and CA sibship size was affected and concordantly unaffected for DN was performed 2.73. Singlepoint and multipoint linkage analyses indicate that with microsatellite markers in genomic regions suspected to marker D10S1654 on chromosome 10p is potentially linked to harbor nephropathy susceptibility loci. -
A Network Propagation Approach to Prioritize Long Tail Genes in Cancer
bioRxiv preprint doi: https://doi.org/10.1101/2021.02.05.429983; this version posted February 8, 2021. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY-NC-ND 4.0 International license. A Network Propagation Approach to Prioritize Long Tail Genes in Cancer Hussein Mohsen1,*, Vignesh Gunasekharan2, Tao Qing2, Sahand Negahban3, Zoltan Szallasi4, Lajos Pusztai2,*, Mark B. Gerstein1,5,6,3,* 1 Computational Biology & Bioinformatics Program, Yale University, New Haven, CT 06511, USA 2 Breast Medical Oncology, Yale School of Medicine, New Haven, CT 06511, USA 3 Department of Statistics & Data Science, Yale University, New Haven, CT 06511, USA 4 Children’s Hospital Informatics Program, Harvard-MIT Division of Health Sciences and Technology, Harvard Medical School, Boston, MA 02115, USA 5 Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT 06511, USA 6 Department of Computer Science, Yale University, New Haven, CT 06511, USA * Corresponding author Abstract Introduction. The diversity of genomic alterations in cancer pose challenges to fully understanding the etiologies of the disease. Recent interest in infrequent mutations, in genes that reside in the “long tail” of the mutational distribution, uncovered new genes with significant implication in cancer development. The study of these genes often requires integrative approaches with multiple types of biological data. Network propagation methods have demonstrated high efficacy in uncovering genomic patterns underlying cancer using biological interaction networks. Yet, the majority of these analyses have focused their assessment on detecting known cancer genes or identifying altered subnetworks. -
A Computational Approach for Defining a Signature of Β-Cell Golgi Stress in Diabetes Mellitus
Page 1 of 781 Diabetes A Computational Approach for Defining a Signature of β-Cell Golgi Stress in Diabetes Mellitus Robert N. Bone1,6,7, Olufunmilola Oyebamiji2, Sayali Talware2, Sharmila Selvaraj2, Preethi Krishnan3,6, Farooq Syed1,6,7, Huanmei Wu2, Carmella Evans-Molina 1,3,4,5,6,7,8* Departments of 1Pediatrics, 3Medicine, 4Anatomy, Cell Biology & Physiology, 5Biochemistry & Molecular Biology, the 6Center for Diabetes & Metabolic Diseases, and the 7Herman B. Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202; 2Department of BioHealth Informatics, Indiana University-Purdue University Indianapolis, Indianapolis, IN, 46202; 8Roudebush VA Medical Center, Indianapolis, IN 46202. *Corresponding Author(s): Carmella Evans-Molina, MD, PhD ([email protected]) Indiana University School of Medicine, 635 Barnhill Drive, MS 2031A, Indianapolis, IN 46202, Telephone: (317) 274-4145, Fax (317) 274-4107 Running Title: Golgi Stress Response in Diabetes Word Count: 4358 Number of Figures: 6 Keywords: Golgi apparatus stress, Islets, β cell, Type 1 diabetes, Type 2 diabetes 1 Diabetes Publish Ahead of Print, published online August 20, 2020 Diabetes Page 2 of 781 ABSTRACT The Golgi apparatus (GA) is an important site of insulin processing and granule maturation, but whether GA organelle dysfunction and GA stress are present in the diabetic β-cell has not been tested. We utilized an informatics-based approach to develop a transcriptional signature of β-cell GA stress using existing RNA sequencing and microarray datasets generated using human islets from donors with diabetes and islets where type 1(T1D) and type 2 diabetes (T2D) had been modeled ex vivo. To narrow our results to GA-specific genes, we applied a filter set of 1,030 genes accepted as GA associated. -
A Large Genome-Wide Association Study of Age-Related Macular Degeneration Highlights Contributions of Rare and Common Variants
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants The Harvard community has made this article openly available. Please share how this access benefits you. Your story matters Citation Fritsche, L. G., W. Igl, J. N. Cooke Bailey, F. Grassmann, S. Sengupta, J. L. Bragg-Gresham, K. P. Burdon, et al. 2016. “A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.” Nature genetics 48 (2): 134-143. doi:10.1038/ng.3448. http:// dx.doi.org/10.1038/ng.3448. Published Version doi:10.1038/ng.3448 Citable link http://nrs.harvard.edu/urn-3:HUL.InstRepos:27662298 Terms of Use This article was downloaded from Harvard University’s DASH repository, and is made available under the terms and conditions applicable to Other Posted Material, as set forth at http:// nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of- use#LAA HHS Public Access Author manuscript Author ManuscriptAuthor Manuscript Author Nat Genet Manuscript Author . Author manuscript; Manuscript Author available in PMC 2016 June 21. Published in final edited form as: Nat Genet. 2016 February ; 48(2): 134–143. doi:10.1038/ng.3448. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants A full list of authors and affiliations appears at the end of the article. Abstract Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly with limited therapeutic options. Here, we report on a study of >12 million variants including 163,714 directly genotyped, most rare, protein-altering variant. -
Taenia Solium TAF6 and TAF9 Binds to a Putative Downstream Promoter Element
bioRxiv preprint doi: https://doi.org/10.1101/106997; this version posted February 8, 2017. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY-NC-ND 4.0 International license. Taenia solium TAF6 and TAF9 binds to a putative Downstream Promoter Element present in TsTBP1 gene core promoter. Oscar Rodríguez-Lima1, #a, Ponciano García-Gutierrez2, Lucía Jimenez1, Angel Zarain-Herzberg3, Roberto Lazarini4 and Abraham Landa1*. 1Departamento de Microbiología y Parasitología, Facultad de Medicina, Universidad Nacional Autónoma de México. Ciudad de México, México. 2Departamento de Química, Universidad Autónoma Metropolitana–Iztapalapa. Ciudad de México, México. 3Departamento de Bioquímica, Facultad de Medicina, Universidad Nacional Autónoma de México. Ciudad de México, México. 4Departamento de Biología Experimental, Universidad Autónoma Metropolitana– Iztapalapa. Ciudad de México, México. #a Current address: Center for Integrative Genomics, Lausanne University, Lausanne, Switzerland. *Corresponding author: Abraham Landa, Ph.D. Universidad Nacional Autónoma de México. Departamento de Microbiología y Parasitología, Facultad de Medicina Edificio A 2do piso. Ciudad Universitaria. CDMX 04510, México Phone: (52 55) 56-23-23-57, Fax: (52 55) 56-23-23-82, Email: [email protected] 1 bioRxiv preprint doi: https://doi.org/10.1101/106997; this version posted February 8, 2017. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY-NC-ND 4.0 International license. -
PILRA Antibody Cat
PILRA Antibody Cat. No.: 30-252 PILRA Antibody Specifications HOST SPECIES: Rabbit SPECIES REACTIVITY: Human Antibody produced in rabbits immunized with a synthetic peptide corresponding a region IMMUNOGEN: of human PILRA. TESTED APPLICATIONS: ELISA, WB PILRA antibody can be used for detection of PILRA by ELISA at 1:1562500. PILRA antibody APPLICATIONS: can be used for detection of PILRA by western blot at 0.5 μg/mL, and HRP conjugated secondary antibody should be diluted 1:50,000 - 100,000. POSITIVE CONTROL: 1) Cat. No. 1211 - HepG2 Cell Lysate PREDICTED MOLECULAR 18 kDa WEIGHT: Properties PURIFICATION: Antibody is purified by peptide affinity chromatography method. CLONALITY: Polyclonal CONJUGATE: Unconjugated PHYSICAL STATE: Liquid September 25, 2021 1 https://www.prosci-inc.com/pilra-antibody-30-252.html Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% BUFFER: sucrose. CONCENTRATION: batch dependent For short periods of storage (days) store at 4˚C. For longer periods of storage, store PILRA STORAGE CONDITIONS: antibody at -20˚C. As with any antibody avoid repeat freeze-thaw cycles. Additional Info OFFICIAL SYMBOL: PILRA ALTERNATE NAMES: PILRA, FDF03 ACCESSION NO.: NP_840057 PROTEIN GI NO.: 30179907 GENE ID: 29992 USER NOTE: Optimal dilutions for each application to be determined by the researcher. Background and References Cell signaling pathways rely on a dynamic interaction between activating and inhibiting processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is central to the regulation of several cell signaling pathways. Two types of inhibitory receptor superfamily members are immunoreceptor tyrosine-based inhibitory motif (ITIM)-bearing receptors and their non-ITIM-bearing, activating counterparts. -
Molecular Structure of Promoter-Bound Yeast TFIID
ARTICLE DOI: 10.1038/s41467-018-07096-y OPEN Molecular structure of promoter-bound yeast TFIID Olga Kolesnikova 1,2,3,4, Adam Ben-Shem1,2,3,4, Jie Luo5, Jeff Ranish 5, Patrick Schultz 1,2,3,4 & Gabor Papai 1,2,3,4 Transcription preinitiation complex assembly on the promoters of protein encoding genes is nucleated in vivo by TFIID composed of the TATA-box Binding Protein (TBP) and 13 TBP- associate factors (Tafs) providing regulatory and chromatin binding functions. Here we present the cryo-electron microscopy structure of promoter-bound yeast TFIID at a resolu- 1234567890():,; tion better than 5 Å, except for a flexible domain. We position the crystal structures of several subunits and, in combination with cross-linking studies, describe the quaternary organization of TFIID. The compact tri lobed architecture is stabilized by a topologically closed Taf5-Taf6 tetramer. We confirm the unique subunit stoichiometry prevailing in TFIID and uncover a hexameric arrangement of Tafs containing a histone fold domain in the Twin lobe. 1 Department of Integrated Structural Biology, Equipe labellisée Ligue Contre le Cancer, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67404, France. 2 Centre National de la Recherche Scientifique, UMR7104, 67404 Illkirch, France. 3 Institut National de la Santé et de la Recherche Médicale, U1258, 67404 Illkirch, France. 4 Université de Strasbourg, Illkirch 67404, France. 5 Institute for Systems Biology, Seattle, WA 98109, USA. These authors contributed equally: Olga Kolesnikova, Adam Ben-Shem. Correspondence and requests for materials should be addressed to P.S. (email: [email protected]) or to G.P. -
92324 ACTL6A/BAF53A (E3W2A) Rabbit Mab
Revision 1 C 0 2 - t ACTL6A/BAF53A (E3W2A) Rabbit a e r o t mAb S Orders: 877-616-CELL (2355) [email protected] 4 Support: 877-678-TECH (8324) 2 3 Web: [email protected] 2 www.cellsignal.com 9 # 3 Trask Lane Danvers Massachusetts 01923 USA For Research Use Only. Not For Use In Diagnostic Procedures. Applications: Reactivity: Sensitivity: MW (kDa): Source/Isotype: UniProt ID: Entrez-Gene Id: WB, IP, ChIP H Mk Endogenous 45 Rabbit IgG O96019 86 Product Usage Information Brg1/hBRM also plays a role as a tumor suppressor and Brg1 is mutated in several tumor cell lines (6-8). For optimal ChIP results, use 10 μl of antibody and 10 μg of chromatin (approximately 4 ACTL6/BAF53 proteins are highly homologous, actin-related proteins found in the × 106 cells) per IP. This antibody has been validated using SimpleChIP® Enzymatic SWI/SNF complex (9). In addition to the canonical SWI/SNF complex, ACT6LA/BAF53a Chromatin IP Kits. is also a member of the embryonic SWI/SNF complex, known as esBAF, which plays a role in pluripotency and development (10-12). ACTL6B/BAF53b is a member of the neural Application Dilution specific SWI/SNF complex and facilitates binding to target genes and is involved in memory and synaptic plasticity (13-15). ACTL6/BAF53 has been shown to interact with c- Western Blotting 1:1000 Myc, where it functions as a cofactor and is important in the transformation process (16). Immunoprecipitation 1:50 Further studies have shown ACTL6/BAF53 is associated with EMT and transformation in Chromatin IP 1:50 various cancers (17,18). -
Dynamic Landscape of Chromatin Accessibility and Transcriptomic
www.nature.com/scientificreports OPEN Dynamic landscape of chromatin accessibility and transcriptomic changes during diferentiation of human embryonic stem cells into dopaminergic neurons César Meléndez‑Ramírez1,2,6, Raquel Cuevas‑Diaz Duran3,6*, Tonatiuh Barrios‑García3, Mayela Giacoman‑Lozano3, Adolfo López‑Ornelas1,2,4, Jessica Herrera‑Gamboa3, Enrique Estudillo2, Ernesto Soto‑Reyes5, Iván Velasco1,2* & Víctor Treviño3* Chromatin architecture infuences transcription by modulating the physical access of regulatory factors to DNA, playing fundamental roles in cell identity. Studies on dopaminergic diferentiation have identifed coding genes, but the relationship with non‑coding genes or chromatin accessibility remains elusive. Using RNA‑Seq and ATAC‑Seq we profled diferentially expressed transcripts and open chromatin regions during early dopaminergic neuron diferentiation. Hierarchical clustering of diferentially expressed genes, resulted in 6 groups with unique characteristics. Surprisingly, the abundance of long non‑coding RNAs (lncRNAs) was high in the most downregulated transcripts, and depicted positive correlations with target mRNAs. We observed that open chromatin regions decrease upon diferentiation. Enrichment analyses of accessibility depict an association between open chromatin regions and specifc functional pathways and gene‑sets. A bioinformatic search for motifs allowed us to identify transcription factors and structural nuclear proteins that potentially regulate dopaminergic diferentiation. Interestingly, we also found changes in protein and mRNA abundance of the CCCTC‑binding factor, CTCF, which participates in genome organization and gene expression. Furthermore, assays demonstrated co‑localization of CTCF with Polycomb‑repressed chromatin marked by H3K27me3 in pluripotent cells, progressively decreasing in neural precursor cells and diferentiated neurons. Our work provides a unique resource of transcription factors and regulatory elements, potentially involved in the acquisition of human dopaminergic neuron cell identity. -
SLFN11 Promotes CDT1 Degradation by CUL4 in Response to Replicative DNA Damage, While Its Absence Leads to Synthetic Lethality with ATR/CHK1 Inhibitors
SLFN11 promotes CDT1 degradation by CUL4 in response to replicative DNA damage, while its absence leads to synthetic lethality with ATR/CHK1 inhibitors Ukhyun Joa,1, Yasuhisa Muraia, Sirisha Chakkab, Lu Chenb, Ken Chengb, Junko Muraic, Liton Kumar Sahaa, Lisa M. Miller Jenkinsd, and Yves Pommiera,1 aDevelopmental Therapeutics Branch, Laboratory of Molecular Pharmacology, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20814; bNational Center for Advancing Translational Sciences, Functional Genomics Laboratory, NIH, Rockville, MD 20850; cInstitute for Advanced Biosciences, Keio University, 997-0052 Yamagata, Japan; and dLaboratory of Cell Biology, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD 20892 Edited by Richard D. Kolodner, Ludwig Institute for Cancer Research, La Jolla, CA, and approved December 8, 2020 (received for review July 29, 2020) Schlafen-11 (SLFN11) inactivation in ∼50% of cancer cells confers condensation related to deposition of H3K27me3 in the gene broad chemoresistance. To identify therapeutic targets and under- body of SLFN11 by EZH2, a histone methyltransferase (11). lying molecular mechanisms for overcoming chemoresistance, we Targeting epigenetic regulators is therefore an attractive com- performed an unbiased genome-wide RNAi screen in SLFN11-WT bination strategy to overcome chemoresistance of SLFN11- and -knockout (KO) cells. We found that inactivation of Ataxia deficient cancers (10, 25, 26). An alternative approach is to at- Telangiectasia- and Rad3-related (ATR), CHK1, BRCA2, and RPA1 tack SLFN11-negative cancer cells by targeting the essential SLFN11 overcome chemoresistance to camptothecin (CPT) in -KO pathways that cells use to overcome replicative damage and cells. Accordingly, we validate that clinical inhibitors of ATR replication stress. -
Análise Integrativa De Perfis Transcricionais De Pacientes Com
UNIVERSIDADE DE SÃO PAULO FACULDADE DE MEDICINA DE RIBEIRÃO PRETO PROGRAMA DE PÓS-GRADUAÇÃO EM GENÉTICA ADRIANE FEIJÓ EVANGELISTA Análise integrativa de perfis transcricionais de pacientes com diabetes mellitus tipo 1, tipo 2 e gestacional, comparando-os com manifestações demográficas, clínicas, laboratoriais, fisiopatológicas e terapêuticas Ribeirão Preto – 2012 ADRIANE FEIJÓ EVANGELISTA Análise integrativa de perfis transcricionais de pacientes com diabetes mellitus tipo 1, tipo 2 e gestacional, comparando-os com manifestações demográficas, clínicas, laboratoriais, fisiopatológicas e terapêuticas Tese apresentada à Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo para obtenção do título de Doutor em Ciências. Área de Concentração: Genética Orientador: Prof. Dr. Eduardo Antonio Donadi Co-orientador: Prof. Dr. Geraldo A. S. Passos Ribeirão Preto – 2012 AUTORIZO A REPRODUÇÃO E DIVULGAÇÃO TOTAL OU PARCIAL DESTE TRABALHO, POR QUALQUER MEIO CONVENCIONAL OU ELETRÔNICO, PARA FINS DE ESTUDO E PESQUISA, DESDE QUE CITADA A FONTE. FICHA CATALOGRÁFICA Evangelista, Adriane Feijó Análise integrativa de perfis transcricionais de pacientes com diabetes mellitus tipo 1, tipo 2 e gestacional, comparando-os com manifestações demográficas, clínicas, laboratoriais, fisiopatológicas e terapêuticas. Ribeirão Preto, 2012 192p. Tese de Doutorado apresentada à Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo. Área de Concentração: Genética. Orientador: Donadi, Eduardo Antonio Co-orientador: Passos, Geraldo A. 1. Expressão gênica – microarrays 2. Análise bioinformática por module maps 3. Diabetes mellitus tipo 1 4. Diabetes mellitus tipo 2 5. Diabetes mellitus gestacional FOLHA DE APROVAÇÃO ADRIANE FEIJÓ EVANGELISTA Análise integrativa de perfis transcricionais de pacientes com diabetes mellitus tipo 1, tipo 2 e gestacional, comparando-os com manifestações demográficas, clínicas, laboratoriais, fisiopatológicas e terapêuticas.