Mouse Uqcrq Knockout Project (CRISPR/Cas9)

Total Page:16

File Type:pdf, Size:1020Kb

Mouse Uqcrq Knockout Project (CRISPR/Cas9) https://www.alphaknockout.com Mouse Uqcrq Knockout Project (CRISPR/Cas9) Objective: To create a Uqcrq knockout Mouse model (C57BL/6J) by CRISPR/Cas-mediated genome engineering. Strategy summary: The Uqcrq gene (NCBI Reference Sequence: NM_025352 ; Ensembl: ENSMUSG00000044894 ) is located on Mouse chromosome 11. 2 exons are identified, with the ATG start codon in exon 1 and the TAG stop codon in exon 2 (Transcript: ENSMUST00000061326). Exon 1~2 will be selected as target site. Cas9 and gRNA will be co-injected into fertilized eggs for KO Mouse production. The pups will be genotyped by PCR followed by sequencing analysis. Note: Exon 1 starts from about 0.41% of the coding region. Exon 1~2 covers 100.0% of the coding region. The size of effective KO region: ~1629 bp. The KO region does not have any other known gene. Page 1 of 8 https://www.alphaknockout.com Overview of the Targeting Strategy Wildtype allele 5' gRNA region gRNA region 3' 1 2 Legends Exon of mouse Uqcrq Knockout region Page 2 of 8 https://www.alphaknockout.com Overview of the Dot Plot (up) Window size: 15 bp Forward Reverse Complement Sequence 12 Note: The 2000 bp section upstream of start codon is aligned with itself to determine if there are tandem repeats. No significant tandem repeat is found in the dot plot matrix. So this region is suitable for PCR screening or sequencing analysis. Overview of the Dot Plot (down) Window size: 15 bp Forward Reverse Complement Sequence 12 Note: The 2000 bp section downstream of stop codon is aligned with itself to determine if there are tandem repeats. Tandem repeats are found in the dot plot matrix. The gRNA site is selected outside of these tandem repeats. Page 3 of 8 https://www.alphaknockout.com Overview of the GC Content Distribution (up) Window size: 300 bp Sequence 12 Summary: Full Length(2000bp) | A(27.7% 554) | C(26.1% 522) | T(23.7% 474) | G(22.5% 450) Note: The 2000 bp section upstream of start codon is analyzed to determine the GC content. No significant high GC-content region is found. So this region is suitable for PCR screening or sequencing analysis. Overview of the GC Content Distribution (down) Window size: 300 bp Sequence 12 Summary: Full Length(2000bp) | A(28.15% 563) | C(22.2% 444) | T(26.95% 539) | G(22.7% 454) Note: The 2000 bp section downstream of stop codon is analyzed to determine the GC content. No significant high GC-content region is found. So this region is suitable for PCR screening or sequencing analysis. Page 4 of 8 https://www.alphaknockout.com BLAT Search Results (up) QUERY SCORE START END QSIZE IDENTITY CHROM STRAND START END SPAN ----------------------------------------------------------------------------------------------- browser details YourSeq 2000 1 2000 2000 100.0% chr11 - 53430690 53432689 2000 browser details YourSeq 39 1 265 2000 97.7% chr14 + 31626746 31627130 385 browser details YourSeq 37 1 55 2000 78.1% chr3 - 90185120 90185165 46 browser details YourSeq 37 183 264 2000 93.1% chr5 + 99629441 99629524 84 browser details YourSeq 36 1 54 2000 80.0% chr4 + 41086070 41086116 47 browser details YourSeq 36 1 50 2000 77.8% chr18 + 10230006 10230050 45 browser details YourSeq 35 1 50 2000 77.8% chr5 + 65323146 65323191 46 browser details YourSeq 30 1 40 2000 77.2% chr2 + 3237976 3238010 35 browser details YourSeq 29 1 40 2000 80.7% chr19 - 46807818 46807852 35 browser details YourSeq 29 121 155 2000 91.5% chrX + 60559514 60559548 35 browser details YourSeq 28 160 193 2000 91.2% chr7 - 5049554 5049587 34 browser details YourSeq 28 1 28 2000 100.0% chr15 - 38098548 38098575 28 browser details YourSeq 26 1 28 2000 96.5% chrX - 120935576 120935603 28 browser details YourSeq 26 1 26 2000 100.0% chr4 - 19632487 19632512 26 browser details YourSeq 26 1 26 2000 100.0% chr2 - 144539909 144539934 26 browser details YourSeq 26 1 26 2000 100.0% chr17 - 32469417 32469442 26 browser details YourSeq 26 1 26 2000 100.0% chr11 - 85356195 85356220 26 browser details YourSeq 26 130 155 2000 100.0% chr9 + 66873002 66873027 26 browser details YourSeq 26 1 28 2000 96.5% chr4 + 101414374 101414401 28 browser details YourSeq 26 1 28 2000 96.5% chr16 + 44017265 44017292 28 Note: The 2000 bp section upstream of start codon is BLAT searched against the genome. No significant similarity is found. BLAT Search Results (down) QUERY SCORE START END QSIZE IDENTITY CHROM STRAND START END SPAN -------------------------------------------------------------------------------------------------------------- browser details YourSeq 2000 1 2000 2000 100.0% chr11 - 53427059 53429058 2000 browser details YourSeq 175 1077 1603 2000 85.5% chr5 + 144950950 144951294 345 browser details YourSeq 161 1045 1600 2000 83.0% chr11 + 95787665 95787964 300 browser details YourSeq 156 1050 1623 2000 81.6% chr15 - 8454955 8455226 272 browser details YourSeq 154 1101 1623 2000 81.5% chr2 + 34853172 34853566 395 browser details YourSeq 152 1051 1601 2000 82.8% chr18 - 56759485 56759860 376 browser details YourSeq 143 1690 1890 2000 94.5% chr19 - 21622029 21622237 209 browser details YourSeq 129 1078 1601 2000 84.4% chr14 + 26529020 26529482 463 browser details YourSeq 121 1075 1578 2000 87.7% chr7 - 29416332 29416833 502 browser details YourSeq 120 1054 1696 2000 82.3% chr10 + 95920828 95921458 631 browser details YourSeq 117 1050 1574 2000 92.8% chr13 + 110438072 110438605 534 browser details YourSeq 116 1075 1262 2000 90.3% chr14 - 50832625 50832815 191 browser details YourSeq 114 1049 1266 2000 84.7% chr10 + 112919878 112920078 201 browser details YourSeq 113 1075 1474 2000 79.0% chr18 - 60034696 60034879 184 browser details YourSeq 112 1041 1231 2000 92.5% chr7 - 118632429 118632626 198 browser details YourSeq 110 1098 1603 2000 80.4% chr5 + 143492257 143492455 199 browser details YourSeq 109 1050 1261 2000 83.9% chr4 + 31818966 31819163 198 browser details YourSeq 107 1050 1263 2000 82.0% chr13 + 35642361 35642559 199 browser details YourSeq 104 1052 1262 2000 89.3% chr13 - 62836274 62836486 213 browser details YourSeq 103 1050 1200 2000 89.8% chr1 - 78291204 78689947 398744 Note: The 2000 bp section downstream of stop codon is BLAT searched against the genome. No significant similarity is found. Page 5 of 8 https://www.alphaknockout.com Gene and protein information: Uqcrq ubiquinol-cytochrome c reductase, complex III subunit VII [ Mus musculus (house mouse) ] Gene ID: 22272, updated on 11-Sep-2019 Gene summary Official Symbol Uqcrq provided by MGI Official Full Name ubiquinol-cytochrome c reductase, complex III subunit VII provided by MGI Primary source MGI:MGI:107807 See related Ensembl:ENSMUSG00000044894 Gene type protein coding RefSeq status VALIDATED Organism Mus musculus Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus Also known as Qpc; QP-C; Uqcrb; c1502; 9.5kDa; AA959903; 1100001F06Rik; 1500040F11Rik; 5830407L17Rik Expression Ubiquitous expression in duodenum adult (RPKM 291.7), liver adult (RPKM 266.1) and 28 other tissues See more Orthologs human all Genomic context Location: 11; 11 B1.3 See Uqcrq in Genome Data Viewer Exon count: 2 Annotation release Status Assembly Chr Location 108 current GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (53427922..53430831, complement) Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 11 NC_000077.5 (53242450..53244333, complement) Chromosome 11 - NC_000077.6 Page 6 of 8 https://www.alphaknockout.com Transcript information: This gene has 4 transcripts Gene: Uqcrq ENSMUSG00000044894 Description ubiquinol-cytochrome c reductase, complex III subunit VII [Source:MGI Symbol;Acc:MGI:107807] Gene Synonyms 1100001F06Rik, 1500040F11Rik, 5830407L17Rik, QP-C, Qpc, c1502 Location Chromosome 11: 53,427,922-53,430,831 reverse strand. GRCm38:CM001004.2 About this gene This gene has 4 transcripts (splice variants), 203 orthologues, is a member of 1 Ensembl protein family and is associated with 3 phenotypes. Transcripts Name Transcript ID bp Protein Translation ID Biotype CCDS UniProt Flags Uqcrq-201 ENSMUST00000061326.4 1521 82aa ENSMUSP00000053145.4 Protein coding CCDS36151 Q9CQ69 TSL:1 GENCODE basic APPRIS P1 Uqcrq-203 ENSMUST00000109021.3 405 82aa ENSMUSP00000104649.3 Protein coding CCDS36151 Q9CQ69 TSL:1 GENCODE basic APPRIS P1 Uqcrq-202 ENSMUST00000109019.7 504 37aa ENSMUSP00000104647.1 Protein coding - I7HPX6 TSL:2 GENCODE basic Uqcrq-204 ENSMUST00000156503.1 375 No protein - lncRNA - - TSL:2 22.91 kb Forward strand 53.42Mb 53.43Mb 53.44Mb Genes Aff4-201 >protein coding Gdf9-203 >lncRNA (Comprehensive set... Gdf9-202 >lncRNA Gdf9-201 >protein coding Contigs AL592489.13 > Genes < Leap2-201protein coding < Uqcrq-201protein coding (Comprehensive set... < Uqcrq-204lncRNA < Uqcrq-203protein coding < Uqcrq-202protein coding Regulatory Build 53.42Mb 53.43Mb 53.44Mb Reverse strand 22.91 kb Regulation Legend CTCF Open Chromatin Promoter Promoter Flank Gene Legend Protein Coding merged Ensembl/Havana Ensembl protein coding Non-Protein Coding RNA gene Page 7 of 8 https://www.alphaknockout.com Transcript: ENSMUST00000061326 < Uqcrq-201protein coding Reverse strand 2.91 kb ENSMUSP00000053... Superfamily Cytochrome b-c1 complex subunit 8 superfamily Pfam Cytochrome b-c1 complex subunit 8 PANTHER Cytochrome b-c1 complex subunit 8 Gene3D Cytochrome b-c1 complex subunit 8 superfamily All sequence SNPs/i... Sequence variants (dbSNP and all other sources) R Y Variant Legend splice region variant synonymous variant Scale bar 0 8 16 24 32 40 48 56 64 72 82 We wish to acknowledge the following valuable scientific information resources: Ensembl, MGI, NCBI, UCSC. Page 8 of 8.
Recommended publications
  • Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector REPORT Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ Ortal Barel,1 Zamir Shorer,2 Hagit Flusser,2 Rivka Ofir,1 Ginat Narkis,1 Gal Finer,1 Hanah Shalev,2 Ahmad Nasasra,2 Ann Saada,3 and Ohad S. Birk1,4,* A consanguineous Israeli Bedouin kindred presented with an autosomal-recessive nonlethal phenotype of severe psychomotor retarda- tion and extrapyramidal signs, dystonia, athetosis and ataxia, mild axial hypotonia, and marked global dementia with defects in verbal and expressive communication skills. Metabolic workup was normal except for mildly elevated blood lactate levels. Brain magnetic resonance imaging (MRI) showed increased density in the putamen, with decreased density and size of the caudate and lentiform nuclei. Reduced activity specifically of mitochondrial complex III and variable decrease in complex I activity were evident in muscle biopsies. Homozygosity of affected individuals to UQCRB and to BCSIL, previously associated with isolated complex III deficiency, was ruled out. Genome-wide linkage analysis identified a homozygosity locus of approximately 9 cM on chromosome 5q31 that was further narrowed down to 2.14 cM, harboring 30 genes (logarithm of the odds [LOD] score 8.82 at q ¼ 0). All 30 genes were sequenced, revealing a single missense (p.Ser45Phe) mutation in UQCRQ (encoding ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5 kDa), one of the ten nuclear
    [Show full text]
  • Molecular Characterization of Acute Myeloid Leukemia by Next Generation Sequencing: Identification of Novel Biomarkers and Targets of Personalized Therapies
    Alma Mater Studiorum – Università di Bologna Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale Dottorato di Ricerca in Oncologia, Ematologia e Patologia XXX Ciclo Settore Scientifico Disciplinare: MED/15 Settore Concorsuale:06/D3 Molecular characterization of acute myeloid leukemia by Next Generation Sequencing: identification of novel biomarkers and targets of personalized therapies Presentata da: Antonella Padella Coordinatore Prof. Pier-Luigi Lollini Supervisore: Prof. Giovanni Martinelli Esame finale anno 2018 Abstract Acute myeloid leukemia (AML) is a hematopoietic neoplasm that affects myeloid progenitor cells and it is one of the malignancies best studied by next generation sequencing (NGS), showing a highly heterogeneous genetic background. The aim of the study was to characterize the molecular landscape of 2 subgroups of AML patients carrying either chromosomal number alterations (i.e. aneuploidy) or rare fusion genes. We performed whole exome sequencing and we integrated the mutational data with transcriptomic and copy number analysis. We identified the cell cycle, the protein degradation, response to reactive oxygen species, energy metabolism and biosynthetic process as the pathways mostly targeted by alterations in aneuploid AML. Moreover, we identified a 3-gene expression signature including RAD50, PLK1 and CDC20 that characterize this subgroup. Taking advantage of RNA sequencing we aimed at the discovery of novel and rare gene fusions. We detected 9 rare chimeric transcripts, of which partner genes were transcription factors (ZEB2, BCL11B and MAFK) or tumor suppressors (SAV1 and PUF60) rarely translocated across cancer types. Moreover, we detected cryptic events hiding the loss of NF1 and WT1, two recurrently altered genes in AML. Finally, we explored the oncogenic potential of the ZEB2-BCL11B fusion, which revealed no transforming ability in vitro.
    [Show full text]
  • Genetic Loci on Chromosome 5 Are Associated with Circulating Levels Of
    Cytokine 81 (2016) 1–9 Contents lists available at ScienceDirect Cytokine journal homepage: www.journals.elsevier.com/cytokine Genetic loci on chromosome 5 are associated with circulating levels of interleukin-5 and eosinophil count in a European population with high risk for cardiovascular disease Olga McLeod a, Angela Silveira a, Elsa Valdes-Marquez b, Harry Björkbacka c, Peter Almgren d, Karl Gertow a, Jesper R. Gådin a, Alexandra Bäcklund a, Bengt Sennblad e, Damiano Baldassarre f,g, Fabrizio Veglia g, Steve E. Humphries h, Elena Tremoli f,g, Ulf de Faire i, Jan Nilsson c, Olle Melander d, Jemma C. Hopewell b, Robert Clarke b, Hanna M. Björck a, Anders Hamsten a, John Öhrvik a,j, ⇑ Rona J. Strawbridge a, , On behalf of the IMPROVE study group a Cardiovascular Medicine Unit, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden b CTSU – Nuffield Department of Population Health, University of Oxford, Oxford, UK c Experimental Cardiovascular Research Unit, Department of Clinical Sciences Malmö, Lund University, Malmö, Sweden d Department of Clinical Sciences Malmö, Lund University, Malmö, Sweden e Cardiovascular Medicine Unit, Department of Medicine, Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden f Dipartimento di Scienze Farmacologiche e Biomolecolari, Università di Milano, Italy g Centro Cardiologico Monzino, IRCCS, Milan, Italy h Centre for Cardiovascular Genetics, University College London, UK i Division of Cardiovascular Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden j Centre for Clinical Research Västerås, Uppsala University, SE-72189 Västerås, Sweden article info abstract Article history: IL-5 is a Th2 cytokine which activates eosinophils and is suggested to have an atheroprotective role.
    [Show full text]
  • THE FUNCTIONAL SIGNIFICANCE of MITOCHONDRIAL SUPERCOMPLEXES in C. ELEGANS by WICHIT SUTHAMMARAK Submitted in Partial Fulfillment
    THE FUNCTIONAL SIGNIFICANCE OF MITOCHONDRIAL SUPERCOMPLEXES in C. ELEGANS by WICHIT SUTHAMMARAK Submitted in partial fulfillment of the requirements For the degree of Doctor of Philosophy Dissertation Advisor: Drs. Margaret M. Sedensky & Philip G. Morgan Department of Genetics CASE WESTERN RESERVE UNIVERSITY January, 2011 CASE WESTERN RESERVE UNIVERSITY SCHOOL OF GRADUATE STUDIES We hereby approve the thesis/dissertation of _____________________________________________________ candidate for the ______________________degree *. (signed)_______________________________________________ (chair of the committee) ________________________________________________ ________________________________________________ ________________________________________________ ________________________________________________ ________________________________________________ (date) _______________________ *We also certify that written approval has been obtained for any proprietary material contained therein. Dedicated to my family, my teachers and all of my beloved ones for their love and support ii ACKNOWLEDGEMENTS My advanced academic journey began 5 years ago on the opposite side of the world. I traveled to the United States from Thailand in search of a better understanding of science so that one day I can return to my homeland and apply the knowledge and experience I have gained to improve the lives of those affected by sickness and disease yet unanswered by science. Ultimately, I hoped to make the academic transition into the scholarly community by proving myself through scientific research and understanding so that I can make a meaningful contribution to both the scientific and medical communities. The following dissertation would not have been possible without the help, support, and guidance of a lot of people both near and far. I wish to thank all who have aided me in one way or another on this long yet rewarding journey. My sincerest thanks and appreciation goes to my advisors Philip Morgan and Margaret Sedensky.
    [Show full text]
  • Human Mitochondrial Pathologies of the Respiratory Chain and ATP Synthase: Contributions from Studies of Saccharomyces Cerevisiae
    life Review Human Mitochondrial Pathologies of the Respiratory Chain and ATP Synthase: Contributions from Studies of Saccharomyces cerevisiae Leticia V. R. Franco 1,2,* , Luca Bremner 1 and Mario H. Barros 2 1 Department of Biological Sciences, Columbia University, New York, NY 10027, USA; [email protected] 2 Department of Microbiology,Institute of Biomedical Sciences, Universidade de Sao Paulo, Sao Paulo 05508-900, Brazil; [email protected] * Correspondence: [email protected] Received: 27 October 2020; Accepted: 19 November 2020; Published: 23 November 2020 Abstract: The ease with which the unicellular yeast Saccharomyces cerevisiae can be manipulated genetically and biochemically has established this organism as a good model for the study of human mitochondrial diseases. The combined use of biochemical and molecular genetic tools has been instrumental in elucidating the functions of numerous yeast nuclear gene products with human homologs that affect a large number of metabolic and biological processes, including those housed in mitochondria. These include structural and catalytic subunits of enzymes and protein factors that impinge on the biogenesis of the respiratory chain. This article will review what is currently known about the genetics and clinical phenotypes of mitochondrial diseases of the respiratory chain and ATP synthase, with special emphasis on the contribution of information gained from pet mutants with mutations in nuclear genes that impair mitochondrial respiration. Our intent is to provide the yeast mitochondrial specialist with basic knowledge of human mitochondrial pathologies and the human specialist with information on how genes that directly and indirectly affect respiration were identified and characterized in yeast. Keywords: mitochondrial diseases; respiratory chain; yeast; Saccharomyces cerevisiae; pet mutants 1.
    [Show full text]
  • Single Cell Transcriptomics in Schizophrenia Postmortem Brain: Moving Beyond Bulk Lysate
    SINGLE CELL TRANSCRIPTOMICS IN SCHIZOPHRENIA POSTMORTEM BRAIN: MOVING BEYOND BULK LYSATE Richard Crist June 8th, 2020 Schizophrenia Transcriptomics ■ Microarray and RNA sequencing ■ Differentially expressed genes across many cortical and sub-cortical regions – Dorsolateral prefrontal cortex (dlPFC) (Fillman et al, 2013) – Anterior Cingulate Cortex (Zhao et al, 2015; Hong et al, 2013) – Superior temporal gyrus (Wu et al, 2012) – Hippocampus (Hwang et al, 2013; Kohen et al, 2014) – Amygdala (Chang et al, 2017) ■ Enrichment of pathways and gene networks – Neural development – Axon guidance – Inflammation and immune-related proteins CommonMind Consortium ■ Largest transcriptomic analysis of schizophrenia – 258 cases/279 controls – RNAseq in dlPFC ■ 693 differentially expressed genes Fromer et al, 2016 Cell Diversity in Postmortem Brain ■ Brain, like all tissues, consists of many cell types – Major cell populations (e.g. astrocytes) – Distinct sub-populations (e.g. PVALB+ interneurons) ■ Problems in assessing differential expression in bulk lysate – Inability to identify which cells are affected – Missed expression changes in less common cell types Penney et al, 2019 Schizophrenia Single Cell Transcriptomics ■ Immunofluorescence and laser capture microdissection to collect individual populations of cells ■ Layer III/V pyramidal neurons (Arion et al, 2017) – 72 PFC samples – 36 cases/36 controls – 100 cells per layer for each sample – Expression assessed by microarray – 1,783 differentially expressed probe sets corresponding to 1,420 genes
    [Show full text]
  • Electron Transport Chain Activity Is a Predictor and Target for Venetoclax Sensitivity in Multiple Myeloma
    ARTICLE https://doi.org/10.1038/s41467-020-15051-z OPEN Electron transport chain activity is a predictor and target for venetoclax sensitivity in multiple myeloma Richa Bajpai1,7, Aditi Sharma 1,7, Abhinav Achreja2,3, Claudia L. Edgar1, Changyong Wei1, Arusha A. Siddiqa1, Vikas A. Gupta1, Shannon M. Matulis1, Samuel K. McBrayer 4, Anjali Mittal3,5, Manali Rupji 6, Benjamin G. Barwick 1, Sagar Lonial1, Ajay K. Nooka 1, Lawrence H. Boise 1, Deepak Nagrath2,3,5 & ✉ Mala Shanmugam 1 1234567890():,; The BCL-2 antagonist venetoclax is highly effective in multiple myeloma (MM) patients exhibiting the 11;14 translocation, the mechanistic basis of which is unknown. In evaluating cellular energetics and metabolism of t(11;14) and non-t(11;14) MM, we determine that venetoclax-sensitive myeloma has reduced mitochondrial respiration. Consistent with this, low electron transport chain (ETC) Complex I and Complex II activities correlate with venetoclax sensitivity. Inhibition of Complex I, using IACS-010759, an orally bioavailable Complex I inhibitor in clinical trials, as well as succinate ubiquinone reductase (SQR) activity of Complex II, using thenoyltrifluoroacetone (TTFA) or introduction of SDHC R72C mutant, independently sensitize resistant MM to venetoclax. We demonstrate that ETC inhibition increases BCL-2 dependence and the ‘primed’ state via the ATF4-BIM/NOXA axis. Further, SQR activity correlates with venetoclax sensitivity in patient samples irrespective of t(11;14) status. Use of SQR activity in a functional-biomarker informed manner may better select for MM patients responsive to venetoclax therapy. 1 Department of Hematology and Medical Oncology, Winship Cancer Institute, School of Medicine, Emory University, Atlanta, GA, USA.
    [Show full text]
  • Anti-UQCRQ Antibody (ARG54995)
    Product datasheet [email protected] ARG54995 Package: 100 μl anti-UQCRQ antibody Store at: -20°C Summary Product Description Rabbit Polyclonal antibody recognizes UQCRQ Tested Reactivity Hu Tested Application WB Host Rabbit Clonality Polyclonal Isotype IgG Target Name UQCRQ Antigen Species Human Immunogen KLH-conjugated synthetic peptide corresponding to aa. 13-41 of Human UQCRQ. Conjugation Un-conjugated Alternate Names Cytochrome b-c1 complex subunit 8; Complex III subunit 8; QPC; QP-C; Ubiquinol-cytochrome c reductase complex 9.5 kDa protein; Ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C; Complex III subunit VIII; UQCR7; QCR8; MC3DN4 Application Instructions Application table Application Dilution WB 1:1000 Application Note * The dilutions indicate recommended starting dilutions and the optimal dilutions or concentrations should be determined by the scientist. Positive Control NCI-H460 Calculated Mw 10 kDa Properties Form Liquid Purification Purification with Protein A and immunogen peptide. Buffer PBS and 0.09% (W/V) Sodium azide Preservative 0.09% (W/V) Sodium azide Storage instruction For continuous use, store undiluted antibody at 2-8°C for up to a week. For long-term storage, aliquot and store at -20°C or below. Storage in frost free freezers is not recommended. Avoid repeated freeze/thaw cycles. Suggest spin the vial prior to opening. The antibody solution should be gently mixed before use. Note For laboratory research only, not for drug, diagnostic or other use. www.arigobio.com 1/2 Bioinformation Database links GeneID: 27089 Human Swiss-port # O14949 Human Gene Symbol UQCRQ Gene Full Name ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa Background This gene encodes a ubiquinone-binding protein of low molecular mass.
    [Show full text]
  • Genetic Loci on Chromosome 5 Are Associated with Circulating
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by AIR Universita degli studi di Milano Genetic loci on chromosome 5 are associated with circulating levels of interleukin-5 and eosinophil count in a European population with high risk for cardiovascular disease Olga McLeoda, Angela Silveiraa, Elsa Valdes-Marquezb, Harry Björkbackac, Peter Almgrend Karl Gertowa, Jesper R. Gådina, Alexandra Bäcklunda, Bengt Sennblada,e, Damiano Baldassarref,g, Fabrizio Vegliag, Steve E. Humphriesh, Elena Tremolif,g, Ulf de Fairei, Jan Nilssonc, Olle Melanderd, Jemma C Hopewellb, Robert Clarkeb, Hanna M. Björcka, Anders Hamstena, John Öhrvika and Rona J. Strawbridgea on behalf of the IMPROVE study group aCardiovascular Medicine Unit, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden. bCTSU – Nuffield Department of Population Health, University of Oxford, Oxford, UK cExperimental Cardiovascular Research Unit, Dept. of Clincal Sciences Malmö, Lund Univeristy, Malmö, Sweden. dDepartment of Clinical Sciences, Malmö, Lund University, Malmö, Sweden eCardiovascular Medicine Unit, Department of Medicine, Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden. fDipartimento di Scienze Farmacologiche e Biomolecolari, Università di Milano gCentro Cardiologico Monzino, IRCCS, Milan, Italy. hCentre for Cardiovascular Genetics, University College London, United Kingdom. iDivision of Cardiovascular Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden. Correspondence
    [Show full text]
  • Thesis Reference
    Thesis C11orf83, a mitochondrial cardiolipin-binding protein involved in bc1 complex assembly and supercomplex stabilization DESMURS-ROUSSEAU, Marjorie Abstract Cette thèse a permis d'identifier C11orf83, désormais appelé UQCC3, comme étant une protéine mitochondriale ancrée dans la membrane interne. Nous avons constaté l'implication de C11orf83 dans l'assemblage du complexe III de la chaîne respiratoire via la stabilisation du complexe intermédiaire MT-CYB/UQCRB/UQCRQ. Nous avons également prouvé que C11orf83 était associée avec le dimère de complexe III et était détectée dans le supercomplexe III2/IV. Son absence induit une baisse significative de ce supercomplexe et du respirasome (I/III2/IV). La capacité de C11orf83 de lier les cardiolipines, connues pour être impliquées dans la formation et la stabilisation de ces supercomplexes, pourrait expliquer ces résultats. Ainsi, ce travail de thèse en lien avec une récente étude clinique mettant en évidence une déficience du complexe III chez un patient atteint d'une mutation du gène C11orf83 (Wanschers et al., 2014) permet d'améliorer les connaissances sur l'assemblage du complexe III et la compréhension d'une maladie mitochondriale. Reference DESMURS-ROUSSEAU, Marjorie. C11orf83, a mitochondrial cardiolipin-binding protein involved in bc1 complex assembly and supercomplex stabilization. Thèse de doctorat : Univ. Genève, 2015, no. Sc. 4857 DOI : 10.13097/archive-ouverte/unige:108015 URN : urn:nbn:ch:unige-1080158 Available at: http://archive-ouverte.unige.ch/unige:108015 Disclaimer: layout of this document may differ from the published version. 1 / 1 UNIVERSITÉ DE GENÈVE Département de Biologie Cellulaire FACULTÉ DES SCIENCES Professeur Jean-Claude Martinou Département de Science des Protéines Humaines FACULTÉ DE MEDECINE Professeur Amos Bairoch C11orf83, a mitochondrial cardiolipin-binding protein involved in bc1 complex assembly and supercomplex stabilization.
    [Show full text]
  • Identification of Four Novel Associations for B-Cell Acute
    ARTICLE https://doi.org/10.1038/s41467-019-13069-6 OPEN Identification of four novel associations for B-cell acute lymphoblastic leukaemia risk Jayaram Vijayakrishnan 1,19, Maoxiang Qian2,3,19, James B. Studd 1, Wenjian Yang2, Ben Kinnersley 1, Philip J. Law 1, Peter Broderick 1, Elizabeth A. Raetz4, James Allan5, Ching-Hon Pui 6,7, Ajay Vora8, William E. Evans 2,7, Anthony Moorman9, Allen Yeoh10,11, Wentao Yang2, Chunliang Li 12, Claus R. Bartram13, Charles G. Mullighan 6,7,14, Martin Zimmerman15, Stephen P. Hunger16, Martin Schrappe17, Mary V. Relling2,7, Martin Stanulla15, Mignon L. Loh18, Richard S. Houlston 1* & Jun J. Yang 2,6,7* 1234567890():,; There is increasing evidence for a strong inherited genetic basis of susceptibility to acute lymphoblastic leukaemia (ALL) in children. To identify new risk variants for B-cell ALL (B-ALL) we conducted a meta-analysis with four GWAS (genome-wide association studies), totalling 5321 cases and 16,666 controls of European descent. We herein describe novel risk loci for B-ALL at 9q21.31 (rs76925697, P = 2.11 × 10−8), for high-hyperdiploid ALL at 5q31.1 (rs886285, P = 1.56 × 10−8) and 6p21.31 (rs210143 in BAK1, P = 2.21 × 10−8), and ETV6- RUNX1 ALL at 17q21.32 (rs10853104 in IGF2BP1, P = 1.82 × 10−8). Particularly notable are the pleiotropic effects of the BAK1 variant on multiple haematological malignancies and specific effects of IGF2BP1 on ETV6-RUNX1 ALL evidenced by both germline and somatic genomic analyses. Integration of GWAS signals with transcriptomic/epigenomic profiling and 3D chromatin interaction data for these leukaemia risk loci suggests deregulation of B-cell development and the cell cycle as central mechanisms governing genetic susceptibility to ALL.
    [Show full text]
  • Mutations in CYC1, Encoding Cytochrome C1 Subunit Of
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector REPORT CYC1 c Mutations in , Encoding Cytochrome 1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia Pauline Gaignard,1,21 Minal Menezes,2,21 Manuel Schiff,3,4,5 Aure´lien Bayot,3,4 Malgorzata Rak,3,4 He´le`ne Ogier de Baulny,5 Chen-Hsien Su,6 Mylene Gilleron,7,8 Anne Lombes,7,8 Heni Abida,6 Alexander Tzagoloff,6 Lisa Riley,9 Sandra T. Cooper,2,10 Kym Mina,11,12 Padma Sivadorai,13 Mark R. Davis,13 Richard J.N. Allcock,14,15 Nina Kresoje,14 Nigel G. Laing,16,17 David R. Thorburn,18,19 Abdelhamid Slama,1 John Christodoulou,2,9,20 and Pierre Rustin3,4,* Many individuals with abnormalities of mitochondrial respiratory chain complex III remain genetically undefined. Here, we report > > CYC1 c mutations (c.288G T [p.Trp96Cys] and c.643C T [p.Leu215Phe]) in , encoding the cytochrome 1 subunit of complex III, in two unrelated children presenting with recurrent episodes of ketoacidosis and insulin-responsive hyperglycemia. Cytochrome c1, the heme-containing component of complex III, mediates the transfer of electrons from the Rieske iron-sulfur protein to cytochrome c c . Cytochrome 1 is present at reduced levels in the skeletal muscle and skin fibroblasts of affected individuals. Moreover, studies on yeast mutants and affected individuals’ fibroblasts have shown that exogenous expression of wild-type CYC1 rescues complex III activity, demonstrating the deleterious effect of each mutation on cytochrome c1 stability and complex III activity.
    [Show full text]