Targeted Resequencing Identifies Genes with Recurrent Variation In
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Nuclear and Mitochondrial Genome Defects in Autisms
UC Irvine UC Irvine Previously Published Works Title Nuclear and mitochondrial genome defects in autisms. Permalink https://escholarship.org/uc/item/8vq3278q Journal Annals of the New York Academy of Sciences, 1151(1) ISSN 0077-8923 Authors Smith, Moyra Spence, M Anne Flodman, Pamela Publication Date 2009 DOI 10.1111/j.1749-6632.2008.03571.x License https://creativecommons.org/licenses/by/4.0/ 4.0 Peer reviewed eScholarship.org Powered by the California Digital Library University of California THE YEAR IN HUMAN AND MEDICAL GENETICS 2009 Nuclear and Mitochondrial Genome Defects in Autisms Moyra Smith, M. Anne Spence, and Pamela Flodman Department of Pediatrics, University of California, Irvine, California In this review we will evaluate evidence that altered gene dosage and structure im- pacts neurodevelopment and neural connectivity through deleterious effects on synap- tic structure and function, and evidence that the latter are key contributors to the risk for autism. We will review information on alterations of structure of mitochondrial DNA and abnormal mitochondrial function in autism and indications that interactions of the nuclear and mitochondrial genomes may play a role in autism pathogenesis. In a final section we will present data derived using Affymetrixtm SNP 6.0 microar- ray analysis of DNA of a number of subjects and parents recruited to our autism spectrum disorders project. We include data on two sets of monozygotic twins. Col- lectively these data provide additional evidence of nuclear and mitochondrial genome imbalance in autism and evidence of specific candidate genes in autism. We present data on dosage changes in genes that map on the X chromosomes and the Y chro- mosome. -
AGAP1 (NM 014914) Human Recombinant Protein Product Data
OriGene Technologies, Inc. 9620 Medical Center Drive, Ste 200 Rockville, MD 20850, US Phone: +1-888-267-4436 [email protected] EU: [email protected] CN: [email protected] Product datasheet for TP314836 AGAP1 (NM_014914) Human Recombinant Protein Product data: Product Type: Recombinant Proteins Description: Recombinant protein of human ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 2 Species: Human Expression Host: HEK293T Tag: C-Myc/DDK Predicted MW: 88.9 kDa Concentration: >50 ug/mL as determined by microplate BCA method Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining Buffer: 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol Preparation: Recombinant protein was captured through anti-DDK affinity column followed by conventional chromatography steps. Storage: Store at -80°C. Stability: Stable for 12 months from the date of receipt of the product under proper storage and handling conditions. Avoid repeated freeze-thaw cycles. RefSeq: NP_055729 Locus ID: 116987 UniProt ID: Q9UPQ3 RefSeq Size: 4078 Cytogenetics: 2q37.2 RefSeq ORF: 2412 Synonyms: AGAP-1; CENTG2; cnt-g2; GGAP1 Summary: This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] This product is to be used for laboratory only. Not for diagnostic or therapeutic use. View online » ©2021 OriGene Technologies, Inc., 9620 Medical Center Drive, Ste 200, Rockville, MD 20850, US 1 / 2 AGAP1 (NM_014914) Human Recombinant Protein – TP314836 Protein Pathways: Endocytosis Product images: Coomassie blue staining of purified AGAP1 protein (Cat# TP314836). -
Further Delineation of Chromosomal Consensus Regions in Primary
Leukemia (2007) 21, 2463–2469 & 2007 Nature Publishing Group All rights reserved 0887-6924/07 $30.00 www.nature.com/leu ORIGINAL ARTICLE Further delineation of chromosomal consensus regions in primary mediastinal B-cell lymphomas: an analysis of 37 tumor samples using high-resolution genomic profiling (array-CGH) S Wessendorf1,6, TFE Barth2,6, A Viardot1, A Mueller3, HA Kestler3, H Kohlhammer1, P Lichter4, M Bentz5,HDo¨hner1,PMo¨ller2 and C Schwaenen1 1Klinik fu¨r Innere Medizin III, Zentrum fu¨r Innere Medizin der Universita¨t Ulm, Ulm, Germany; 2Institut fu¨r Pathologie, Universita¨t Ulm, Ulm, Germany; 3Forschungsdozentur Bioinformatik, Universita¨t Ulm, Ulm, Germany; 4Abt. Molekulare Genetik, Deutsches Krebsforschungszentrum, Heidelberg, Germany and 5Sta¨dtisches Klinikum Karlsruhe, Karlsruhe, Germany Primary mediastinal B-cell lymphoma (PMBL) is an aggressive the expression of BSAP, BOB1, OCT2, PAX5 and PU1 was extranodal B-cell non-Hodgkin’s lymphoma with specific clin- added to the spectrum typical of PMBL features.9 ical, histopathological and genomic features. To characterize Genetically, a pattern of highly recurrent karyotype alterations further the genotype of PMBL, we analyzed 37 tumor samples and PMBL cell lines Med-B1 and Karpas1106P using array- with the hallmark of chromosomal gains of the subtelomeric based comparative genomic hybridization (matrix- or array- region of chromosome 9 supported the concept of a unique CGH) to a 2.8k genomic microarray. Due to a higher genomic disease entity that distinguishes PMBL from other B-cell non- resolution, we identified altered chromosomal regions in much Hodgkin’s lymphomas.10,11 Together with less specific gains on higher frequencies compared with standard CGH: for example, 2p15 and frequent mutations of the SOCS1 gene, a notable þ 9p24 (68%), þ 2p15 (51%), þ 7q22 (32%), þ 9q34 (32%), genomic similarity to classical Hodgkin’s lymphoma was þ 11q23 (18%), þ 12q (30%) and þ 18q21 (24%). -
Targeting PH Domain Proteins for Cancer Therapy
The Texas Medical Center Library DigitalCommons@TMC The University of Texas MD Anderson Cancer Center UTHealth Graduate School of The University of Texas MD Anderson Cancer Biomedical Sciences Dissertations and Theses Center UTHealth Graduate School of (Open Access) Biomedical Sciences 12-2018 Targeting PH domain proteins for cancer therapy Zhi Tan Follow this and additional works at: https://digitalcommons.library.tmc.edu/utgsbs_dissertations Part of the Bioinformatics Commons, Medicinal Chemistry and Pharmaceutics Commons, Neoplasms Commons, and the Pharmacology Commons Recommended Citation Tan, Zhi, "Targeting PH domain proteins for cancer therapy" (2018). The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences Dissertations and Theses (Open Access). 910. https://digitalcommons.library.tmc.edu/utgsbs_dissertations/910 This Dissertation (PhD) is brought to you for free and open access by the The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences at DigitalCommons@TMC. It has been accepted for inclusion in The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences Dissertations and Theses (Open Access) by an authorized administrator of DigitalCommons@TMC. For more information, please contact [email protected]. TARGETING PH DOMAIN PROTEINS FOR CANCER THERAPY by Zhi Tan Approval page APPROVED: _____________________________________________ Advisory Professor, Shuxing Zhang, Ph.D. _____________________________________________ -
KANK1 Antibody (N-Terminus) Rabbit Polyclonal Antibody Catalog # ALS16019
10320 Camino Santa Fe, Suite G San Diego, CA 92121 Tel: 858.875.1900 Fax: 858.622.0609 KANK1 Antibody (N-Terminus) Rabbit Polyclonal Antibody Catalog # ALS16019 Specification KANK1 Antibody (N-Terminus) - Product Information Application IF, IHC Primary Accession Q14678 Reactivity Human, Mouse Host Rabbit Clonality Polyclonal Calculated MW 147kDa KDa KANK1 Antibody (N-Terminus) - Additional Information Gene ID 23189 Immunofluorescence of KANK1 in human Other Names kidney tissue with KANK1 antibody at 20 KN motif and ankyrin repeat ug/ml. domain-containing protein 1, Ankyrin repeat domain-containing protein 15, Kidney ankyrin repeat-containing protein, KANK1, ANKRD15, KANK, KIAA0172 Target/Specificity Two alternatively spliced transcript variants encoding different isoforms have been identified. The lower molecular weight band seen in the immunoblot is thought to be non-specific. Reconstitution & Storage Long term: -20°C; Short term: +4°C. Avoid repeat freeze-thaw cycles. Anti-KANK1 antibody IHC staining of human kidney. Precautions KANK1 Antibody (N-Terminus) is for research use only and not for use in KANK1 Antibody (N-Terminus) - diagnostic or therapeutic procedures. Background Involved in the control of cytoskeleton KANK1 Antibody (N-Terminus) - Protein formation by regulating actin polymerization. Information Inhibits actin fiber formation and cell migration. Inhibits RhoA activity; the function Name KANK1 involves phosphorylation through PI3K/Akt signaling and may depend on the competetive Synonyms ANKRD15, KANK, KIAA0172 interaction with 14-3-3 adapter proteins to sequester them from active complexes. Function Inhibits the formation of lamellipodia but not of Page 1/3 10320 Camino Santa Fe, Suite G San Diego, CA 92121 Tel: 858.875.1900 Fax: 858.622.0609 Involved in the control of cytoskeleton filopodia; the function may depend on the formation by regulating actin competetive interaction with BAIAP2 to block polymerization. -
Human-Specific Gain of Function in a Developmental Enhancer
Human-Specific Gain of Function in a Developmental Enhancer Shyam Prabhakar,1* Axel Visel,1 Jennifer A. Akiyama,1 Malak Shoukry,1 Keith D. Lewis,1 Amy Holt,1 Ingrid Plajzer-Frick,1 Harris Morrison,2 David R. FitzPatrick,2 Veena Afzal,1 Len A. Pennacchio,1,3 Edward M. Rubin,1,3 James P. Noonan1 1 Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA 2 MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK. 3 United States Department of Energy Joint Genome Institute, Walnut Creek, CA, USA Evolution … of News • Yale Researchers Find “Junk DNA” May Have Triggered Key Evolutionary Changes in Human Thumb and Foot ▫ Office of Public Affairs (Yale University), Sept 4 • “Junk DNA” key to human evolution? ▫ World Science, Sept 4 • Opposable Thumbs and Upright Walking Caused By "Junk DNA" ▫ Slashdot, Sept 7 • Junk DNA may have handed us a gripping future ▫ New Scientist, Sept 4 Or Revolution? • It's the junk that makes us human ▫ Nature (2006) • Accelerated Evolution of Conserved Noncoding Sequences in Humans ▫ Shyam Prabhakar, James P. Noonan, Svante Pääbo, Edward M. Rubin HACNS1 • Human-accelerated conserved non-coding sequence 1 • 546 bp region • Well-conserved among terrestrial mammals • 16 human- specific mutations (since chimpanzee) Experiment • Transgenic mouse assay • β-galactosidase (lacZ) reporter gene • Minimal Hsp68 promoter • 1.2 kb fragment encompassing HACNS1 ▫ Human, Chimp, Rhesus In Vivo Results (E11.5) Reproducibility In Vivo (E13.5) Money Shot “Humanized” Element • Synthesize chimeric element with -
Role and Regulation of the P53-Homolog P73 in the Transformation of Normal Human Fibroblasts
Role and regulation of the p53-homolog p73 in the transformation of normal human fibroblasts Dissertation zur Erlangung des naturwissenschaftlichen Doktorgrades der Bayerischen Julius-Maximilians-Universität Würzburg vorgelegt von Lars Hofmann aus Aschaffenburg Würzburg 2007 Eingereicht am Mitglieder der Promotionskommission: Vorsitzender: Prof. Dr. Dr. Martin J. Müller Gutachter: Prof. Dr. Michael P. Schön Gutachter : Prof. Dr. Georg Krohne Tag des Promotionskolloquiums: Doktorurkunde ausgehändigt am Erklärung Hiermit erkläre ich, dass ich die vorliegende Arbeit selbständig angefertigt und keine anderen als die angegebenen Hilfsmittel und Quellen verwendet habe. Diese Arbeit wurde weder in gleicher noch in ähnlicher Form in einem anderen Prüfungsverfahren vorgelegt. Ich habe früher, außer den mit dem Zulassungsgesuch urkundlichen Graden, keine weiteren akademischen Grade erworben und zu erwerben gesucht. Würzburg, Lars Hofmann Content SUMMARY ................................................................................................................ IV ZUSAMMENFASSUNG ............................................................................................. V 1. INTRODUCTION ................................................................................................. 1 1.1. Molecular basics of cancer .......................................................................................... 1 1.2. Early research on tumorigenesis ................................................................................. 3 1.3. Developing -
Association of Deletion 9P, 46,XY Gonadal Dysgenesis and Autistic Spectrum Disorder
Molecular Human Reproduction Vol.13, No.9 pp. 685–689, 2007 Advance Access publication on July 20, 2007 doi:10.1093/molehr/gam045 Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder G. Vinci1, S. Chantot-Bastaraud1,2, B. El Houate1,3, S. Lortat-Jacob4, R. Brauner5 and K. McElreavey1,6 1Reproduction, Fertility and Populations, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France; 2Service d’Histologie- Biologie de la Reproduction-Cytoge´ne´tique, EA1533 Hoˆpital Tenon AP-HP, Paris, France; 3Human Genetics Unit, Institut Pasteur of Morocco, Casablanca, Morocco; 4Department of Pediatric Surgery, Hopital des Enfants-Malades, Paris, France; 5Pediatric Endocrinology Unit, Hoˆpital Biceˆtre, Assistance Publique-Hoˆpitaux de Paris et Universitie´ Rene´ Decartes, 94275 Paris, France 6Correspondence address. Reproduction, Fertility and Populations Unit, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France. Tel: þ33 1 4568 8920; Fax: þ33 1 4568 8639; E-mail: [email protected] Downloaded from Deletions of distal chromosome 9p24 are often associated with 46,XY gonadal dysgenesis and, depending on the extent of the dele- tion, the monosomy 9p syndrome. We have previously noted that some cases of 46,XY gonadal dysgenesis carry a 9p deletion and exhibit behavioural problems consistent with autistic spectrum disorder. These cases had a small terminal deletion of 9p with limited or no somatic anomalies that are characteristic of the monosomy 9p syndrome. Here, we present a new case of 46,XY partial gonadal dysgenesis and autistic spectrum disorder associated with a de novo deletion of 9p24 that was detected by http://molehr.oxfordjournals.org/ ultra-high resolution oligo microarray comparative genomic hybridization. -
Advances in Autism Genetics: on the Threshold of a New Neurobiology
REVIEWS Advances in autism genetics: on the threshold of a new neurobiology Brett S. Abrahams and Daniel H. Geschwind Abstract | Autism is a heterogeneous syndrome defined by impairments in three core domains: social interaction, language and range of interests. Recent work has led to the identification of several autism susceptibility genes and an increased appreciation of the contribution of de novo and inherited copy number variation. Promising strategies are also being applied to identify common genetic risk variants. Systems biology approaches, including array-based expression profiling, are poised to provide additional insights into this group of disorders, in which heterogeneity, both genetic and phenotypic, is emerging as a dominant theme. Gene association studies Autistic disorder is the most severe end of a group of into the ASDs. This work, in concert with important A set of methods that is used neurodevelopmental disorders referred to as autism technical advances, made it possible to carry out the to determine the correlation spectrum disorders (ASDs), all of which share the com- first candidate gene association studies and resequenc- (positive or negative) between mon feature of dysfunctional reciprocal social interac- ing efforts in the late 1990s. Whole-genome linkage a defined genetic variant and a studies phenotype of interest. tion. A meta-analysis of ASD prevalence rates suggests followed, and were used to identify additional that approximately 37 in 10,000 individuals are affected1. loci of potential interest. Although -
Complex Rearrangement Involving 9P Deletion and Duplication in a Syndromic Patient: Genotype/Phenotype Correlation and Review of the Literature
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by AIR Universita degli studi di Milano Gene 502 (2012) 40–45 Contents lists available at SciVerse ScienceDirect Gene journal homepage: www.elsevier.com/locate/gene Short Communication Complex rearrangement involving 9p deletion and duplication in a syndromic patient: Genotype/phenotype correlation and review of the literature Maria Paola Recalcati a,⁎, Melissa Bellini b, Lorenzo Norsa b, Lucia Ballarati a, Rossella Caselli a, Silvia Russo a, Lidia Larizza a,c, Daniela Giardino a a Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milan, Italy b Clinica Pediatrica, A.O. San Paolo, Università di Milano, Milan, Italy c Dipartimento di Medicina, Chirurgia e Odontoiatria, A.O. San Paolo, Università di Milano, Milan, Italy article info abstract Article history: We describe a 7-year-old boy with a complex rearrangement involving the whole short arm of chromosome Accepted 9 April 2012 9defined by means of molecular cytogenetic techniques. The rearrangement is characterized by a 18.3 Mb Available online 17 April 2012 terminal deletion associated with the inverted duplication of the adjacent 21,5 Mb region. The patient shows developmental delay, psychomotor retardation, hypotonia. Other typical features of 9p deletion Keywords: (genital disorders, midface hypoplasia, long philtrum) and of the 9p duplication (brachycephaly, down slant- Chromosome 9p complex rearrangement fi Array-CGH ing palpebral ssures and bulbous nasal tip) are present. Interestingly, he does not show trigonocephaly that FISH is the most prominent dysmorphism associated with the deletion of the short arm of chromosome 9. -
Edinburgh Research Explorer
CORE Metadata, citation and similar papers at core.ac.uk Provided by Edinburgh Research Explorer Edinburgh Research Explorer Human-Specific Gain of Function in a Developmental Enhancer Citation for published version: Prabhakar, S, Visel, A, Akiyama, JA, Shoukry, M, Lewis, KD, Holt, A, Plajzer-Frick, I, Morrison, H, Fitzpatrick, DR, Afzal, V, Pennacchio, LA, Rubin, EM & Noonan, JP 2008, 'Human-Specific Gain of Function in a Developmental Enhancer' Science, vol 321, no. 5894, pp. 1346-1350. DOI: 10.1126/science.1159974 Digital Object Identifier (DOI): 10.1126/science.1159974 Link: Link to publication record in Edinburgh Research Explorer Document Version: Peer reviewed version Published In: Science Publisher Rights Statement: NIH public access Author manuscript General rights Copyright for the publications made accessible via the Edinburgh Research Explorer is retained by the author(s) and / or other copyright owners and it is a condition of accessing these publications that users recognise and abide by the legal requirements associated with these rights. Take down policy The University of Edinburgh has made every reasonable effort to ensure that Edinburgh Research Explorer content complies with UK legislation. If you believe that the public display of this file breaches copyright please contact [email protected] providing details, and we will remove access to the work immediately and investigate your claim. Download date: 28. Apr. 2017 NIH Public Access Author Manuscript Science. Author manuscript; available in PMC 2009 April 5. NIH-PA Author ManuscriptPublished NIH-PA Author Manuscript in final edited NIH-PA Author Manuscript form as: Science. 2008 September 5; 321(5894): 1346±1350. -
Identification and Characterisation of Rare CACNG5 Genetic Variants in Bipolar Disorder and Schizophrenia
Identification and characterisation of rare CACNG5 genetic variants in bipolar disorder and schizophrenia Thesis submitted for the degree of Doctor of Philosophy UCL Yi-Chun Lin Molecular Psychiatry Laboratory University College London 2010 – 2015 1 I, Yi-Chun Lin, confirm that all the work presented in this thesis is my own. I confirm that the information has been derived from other sources; it has been indicated in the thesis. 2 Acknowledgements This thesis would not have been completed without the help and support of colleagues and friends to whom I would now like to express my sincere thanks First and foremost of my thanks goes to my supervisor Dr Andrew McQuillin, who gave me this wonderful and exciting opportunity to carry out this PhD. His encouragement has provided tremendous support throughout my PhD. I am extremely grateful for his insightful advice, patience and kindness. I would also like to express my appreciation and thanks to Professor Hugh Gurling, my second supervisor, who provided further guidelines and support to enable me to complete this PhD research. Very special thanks to Dr. Radhika Kandaswamy and Dr. Sally Sharp, who have been guiding me with infinite patience in my experimental studies. I am indebted to them for their enthusiasm and advice, their friendship and support leading to the completion of research experiments. Also I would like to thank all my colleagues from my lab Michael, John, Alessia for their support. Finally, I would also like to thank my family, especially my parents for their financial support and my friends for their encouragement and support.