DOCSLIB.ORG

Mouse Ndufab1 Conditional Knockout Project (CRISPR/Cas9)

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Mouse Ndufab1 Conditional Knockout Project (CRISPR/Cas9) https://www.alphaknockout.com Mouse Ndufab1 Conditional Knockout Project (CRISPR/Cas9) Objective: To create a Ndufab1 conditional knockout Mouse model (C57BL/6J) by CRISPR/Cas-mediated genome engineering. Strategy summary: The Ndufab1 gene (NCBI Reference Sequence: NM_028177 ; Ensembl: ENSMUSG00000030869 ) is located on Mouse chromosome 7. 5 exons are identified, with the ATG start codon in exon 1 and the TAA stop codon in exon 4 (Transcript: ENSMUST00000033157). Exon 2~3 will be selected as conditional knockout region (cKO region). Deletion of this region should result in the loss of function of the Mouse Ndufab1 gene. To engineer the targeting vector, homologous arms and cKO region will be generated by PCR using BAC clone RP23-424B22 as template. Cas9, gRNA and targeting vector will be co-injected into fertilized eggs for cKO Mouse production. The pups will be genotyped by PCR followed by sequencing analysis. Note: Exon 2 starts from about 36.11% of the coding region. The knockout of Exon 2~3 will result in frameshift of the gene. The size of intron 1 for 5'-loxP site insertion: 4923 bp, and the size of intron 3 for 3'-loxP site insertion: 1931 bp. The size of effective cKO region: ~3615 bp. The cKO 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 3 4 5 Targeting vector Targeted allele Constitutive KO allele (After Cre recombination) Legends Exon of mouse Ndufab1 Homology arm cKO region loxP site Page 2 of 8 https://www.alphaknockout.com Overview of the Dot Plot Window size: 10 bp Forward Reverse Complement Sequence 12 Note: The sequence of homologous arms and cKO region 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 GC Content Distribution Window size: 300 bp Sequence 12 Summary: Full Length(10115bp) | A(26.36% 2666) | C(21.3% 2155) | T(30.13% 3048) | G(22.2% 2246) Note: The sequence of homologous arms and cKO region 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 3 of 8 https://www.alphaknockout.com BLAT Search Results (up) QUERY SCORE START END QSIZE IDENTITY CHROM STRAND START END SPAN ----------------------------------------------------------------------------------------------- browser details YourSeq 3000 1 3000 3000 100.0% chr7 - 122096982 122099981 3000 browser details YourSeq 327 216 1256 3000 94.6% chr6 + 113546950 113983199 436250 browser details YourSeq 318 209 1256 3000 94.3% chr12 + 59058204 59100774 42571 browser details YourSeq 213 222 862 3000 84.8% chrX + 162817654 162818047 394 browser details YourSeq 187 209 420 3000 94.3% chr7 + 100642174 100642389 216 browser details YourSeq 180 212 404 3000 95.3% chr5 - 34522538 34522728 191 browser details YourSeq 180 216 409 3000 95.4% chr2 + 32867029 32867221 193 browser details YourSeq 179 211 404 3000 96.4% chr9 - 115051505 115051699 195 browser details YourSeq 179 213 404 3000 96.9% chr10 - 77681745 77681943 199 browser details YourSeq 178 211 407 3000 95.9% chr19 + 38343796 38343998 203 browser details YourSeq 178 216 407 3000 96.4% chr1 + 145876172 145876363 192 browser details YourSeq 177 210 404 3000 94.4% chr10 + 40574390 40574583 194 browser details YourSeq 175 210 404 3000 95.9% chr15 - 75952223 75952424 202 browser details YourSeq 175 216 409 3000 95.9% chr13 - 99830670 99830906 237 browser details YourSeq 175 211 407 3000 95.0% chr8 + 95846393 95846719 327 browser details YourSeq 174 216 404 3000 96.3% chr18 - 7264098 7264292 195 browser details YourSeq 174 214 404 3000 93.6% chr11 + 96101129 96101315 187 browser details YourSeq 172 212 888 3000 86.2% chr5 - 110048037 110048689 653 browser details YourSeq 172 219 404 3000 96.3% chr2 - 84692975 84693160 186 browser details YourSeq 172 211 404 3000 96.3% chr18 - 60546535 60546728 194 Note: The 3000 bp section upstream of Exon 2 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 3000 1 3000 3000 100.0% chr7 - 122090367 122093366 3000 browser details YourSeq 328 2555 3000 3000 94.9% chr2 + 78832187 79394558 562372 browser details YourSeq 235 2713 3000 3000 92.0% chr13 - 6129928 6130214 287 browser details YourSeq 233 2708 3000 3000 92.1% chr5 - 22174804 22175072 269 browser details YourSeq 233 2574 3000 3000 89.1% chr6 + 57704469 57704740 272 browser details YourSeq 232 2552 3000 3000 89.2% chr16 + 73019148 73019425 278 browser details YourSeq 232 2713 3000 3000 90.7% chr14 + 22064314 22064588 275 browser details YourSeq 229 1681 2536 3000 90.6% chr7 - 139659544 139659777 234 browser details YourSeq 229 2550 3000 3000 93.9% chr19 + 27027609 27028063 455 browser details YourSeq 228 2729 3000 3000 91.1% chr14 - 118920178 118920437 260 browser details YourSeq 228 2572 3000 3000 88.4% chr1 - 183824664 183824923 260 browser details YourSeq 227 2712 3000 3000 92.9% chr1 - 113560690 113561280 591 browser details YourSeq 227 2729 3000 3000 92.3% chr4 + 48374588 48374854 267 browser details YourSeq 226 2728 3000 3000 94.1% chr16 - 39550234 39550505 272 browser details YourSeq 224 2712 3000 3000 92.1% chr1 - 18757727 18758004 278 browser details YourSeq 223 2743 3000 3000 93.8% chr2 - 78989884 78990150 267 browser details YourSeq 223 2748 3000 3000 95.6% chr1 - 55379427 55379691 265 browser details YourSeq 223 1681 2536 3000 89.7% chr7 + 80508162 80508392 231 browser details YourSeq 223 2713 3000 3000 90.6% chr5 + 96896354 96896638 285 browser details YourSeq 223 2729 3000 3000 94.9% chr16 + 31713527 31713896 370 Note: The 3000 bp section downstream of Exon 3 is BLAT searched against the genome. No significant similarity is found. Page 4 of 8 https://www.alphaknockout.com Gene and protein information: Ndufab1 NADH:ubiquinone oxidoreductase subunit AB1 [ Mus musculus (house mouse) ] Gene ID: 70316, updated on 24-Oct-2019 Gene summary Official Symbol Ndufab1 provided by MGI Official Full Name NADH:ubiquinone oxidoreductase subunit AB1 provided by MGI Primary source MGI:MGI:1917566 See related Ensembl:ENSMUSG00000030869 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 ACP; 8kDa; SDAP; CI-SDAP; 2210401F17Rik; 2310039H15Rik; 2610003B19Rik; 9130423F15Rik Expression Broad expression in adrenal adult (RPKM 768.6), duodenum adult (RPKM 586.0) and 16 other tissues See more Orthologs human all Genomic context Location: 7; 7 F2 See Ndufab1 in Genome Data Viewer Exon count: 6 Annotation release Status Assembly Chr Location 108 current GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (122086815..122101848, complement) Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 7 NC_000073.5 (129231558..129245362, complement) Chromosome 7 - NC_000073.6 Page 5 of 8 https://www.alphaknockout.com Transcript information: This gene has 10 transcripts Gene: Ndufab1 ENSMUSG00000030869 Description NADH:ubiquinone oxidoreductase subunit AB1 [Source:MGI Symbol;Acc:MGI:1917566] Gene Synonyms 2210401F17Rik, 2310039H15Rik, 2610003B19Rik, 8kDa, 9130423F15Rik Location Chromosome 7: 122,085,403-122,101,886 reverse strand. GRCm38:CM001000.2 About this gene This gene has 10 transcripts (splice variants), 228 orthologues, 1 paralogue and is a member of 1 Ensembl protein family. Transcripts Name Transcript ID bp Protein Translation ID Biotype CCDS UniProt Flags Ndufab1- ENSMUST00000033157.9 3479 156aa ENSMUSP00000033157.3 Protein coding CCDS21809 Q569N0 TSL:1 201 Q9CR21 GENCODE basic APPRIS P1 Ndufab1- ENSMUST00000123296.7 1416 156aa ENSMUSP00000116177.1 Protein coding CCDS21809 Q569N0 TSL:1 203 Q9CR21 GENCODE basic APPRIS P1 Ndufab1- ENSMUST00000106471.8 552 128aa ENSMUSP00000102079.2 Protein coding - F8WJ64 CDS 5' 202 incomplete TSL:3 Ndufab1- ENSMUST00000139456.1 452 127aa ENSMUSP00000114756.1 Protein coding - F6ZFT1 CDS 5' 206 incomplete TSL:2 Ndufab1- ENSMUST00000130857.1 1653 No - Retained - - TSL:1 204 protein intron Ndufab1- ENSMUST00000153173.7 755 No - Retained - - TSL:2 210 protein intron Ndufab1- ENSMUST00000146022.1 443 No - Retained - - TSL:2 208 protein intron Ndufab1- ENSMUST00000130904.1 397 No - Retained - - TSL:2 205 protein intron Ndufab1- ENSMUST00000146964.1 351 No - Retained - - TSL:3 209 protein intron Ndufab1- ENSMUST00000145863.1 261 No - lncRNA - - TSL:5 207 protein Page 6 of 8 https://www.alphaknockout.com 36.48 kb Forward strand 122.08Mb 122.09Mb 122.10Mb 122.11Mb Genes Ubfd1-201 >protein coding Gm44986-201 >TEC (Comprehensive set... Ubfd1-204 >retained intron Ubfd1-205 >nonsense mediated decay Contigs < AC124379.3 Genes < Ndufab1-201protein coding < Palb2-206nonsense mediated decay (Comprehensive set... < Ndufab1-209retained intro<n Ndufab1-207lncRNA < Palb2-207nonsense mediated decay < Ndufab1-203protein coding < Palb2-208retained intron < Ndufab1-204retained intron< Ndufab1-208retained intron < Palb2-202protein coding < Ndufab1-202protein coding < Palb2-201protein coding < Ndufab1-205retained intron < Palb2-204protein coding < Ndufab1-206protein coding < Palb2-203protein coding < Ndufab1-210retained
Load more

Recommended publications
  • DNA Breakpoint Assay Reveals a Majority of Gross Duplications Occur in Tandem Reducing VUS Classifications in Breast Cancer Predisposition Genes
    © American College of Medical Genetics and Genomics ARTICLE Corrected: Correction DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes Marcy E. Richardson, PhD1, Hansook Chong, PhD1, Wenbo Mu, MS1, Blair R. Conner, MS1, Vickie Hsuan, MS1, Sara Willett, MS1, Stephanie Lam, MS1, Pei Tsai, CGMBS, MB (ASCP)1, Tina Pesaran, MS, CGC1, Adam C. Chamberlin, PhD1, Min-Sun Park, PhD1, Phillip Gray, PhD1, Rachid Karam, MD, PhD1 and Aaron Elliott, PhD1 Purpose: Gross duplications are ambiguous in terms of clinical cohort, while the remainder have unknown tandem status. Among interpretation due to the limitations of the detection methods that the tandem gross duplications that were eligible for reclassification, cannot infer their context, namely, whether they occur in tandem or 95% of them were upgraded to pathogenic. are duplicated and inserted elsewhere in the genome. We Conclusion: DBA is a novel, high-throughput, NGS-based method investigated the proportion of gross duplications occurring in that informs the tandem status, and thereby the classification of, tandem in breast cancer predisposition genes with the intent of gross duplications. This method revealed that most gross duplica- informing their classifications. tions in the investigated genes occurred in tandem and resulted in a Methods: The DNA breakpoint assay (DBA) is a custom, paired- pathogenic classification, which helps to secure the necessary end, next-generation sequencing (NGS) method designed to treatment options for their carriers. capture and detect deep-intronic DNA breakpoints in gross duplications in BRCA1, BRCA2, ATM, CDH1, PALB2, and CHEK2. Genetics in Medicine (2019) 21:683–693; https://doi.org/10.1038/s41436- Results: DBA allowed us to ascertain breakpoints for 44 unique 018-0092-7 gross duplications from 147 probands.
    [Show full text]
  • Autism Multiplex Family with 16P11.2P12.2 Microduplication Syndrome in Monozygotic Twins and Distal 16P11.2 Deletion in Their Brother
    European Journal of Human Genetics (2012) 20, 540–546 & 2012 Macmillan Publishers Limited All rights reserved 1018-4813/12 www.nature.com/ejhg ARTICLE Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother Anne-Claude Tabet1,2,3,4, Marion Pilorge2,3,4, Richard Delorme5,6,Fre´de´rique Amsellem5,6, Jean-Marc Pinard7, Marion Leboyer6,8,9, Alain Verloes10, Brigitte Benzacken1,11,12 and Catalina Betancur*,2,3,4 The pericentromeric region of chromosome 16p is rich in segmental duplications that predispose to rearrangements through non-allelic homologous recombination. Several recurrent copy number variations have been described recently in chromosome 16p. 16p11.2 rearrangements (29.5–30.1 Mb) are associated with autism, intellectual disability (ID) and other neurodevelopmental disorders. Another recognizable but less common microdeletion syndrome in 16p11.2p12.2 (21.4 to 28.5–30.1 Mb) has been described in six individuals with ID, whereas apparently reciprocal duplications, studied by standard cytogenetic and fluorescence in situ hybridization techniques, have been reported in three patients with autism spectrum disorders. Here, we report a multiplex family with three boys affected with autism, including two monozygotic twins carrying a de novo 16p11.2p12.2 duplication of 8.95 Mb (21.28–30.23 Mb) characterized by single-nucleotide polymorphism array, encompassing both the 16p11.2 and 16p11.2p12.2 regions. The twins exhibited autism, severe ID, and dysmorphic features, including a triangular face, deep-set eyes, large and prominent nasal bridge, and tall, slender build. The eldest brother presented with autism, mild ID, early-onset obesity and normal craniofacial features, and carried a smaller, overlapping 16p11.2 microdeletion of 847 kb (28.40–29.25 Mb), inherited from his apparently healthy father.
    [Show full text]
  • Mouse Ndufab1 Knockout Project (CRISPR/Cas9)
    https://www.alphaknockout.com Mouse Ndufab1 Knockout Project (CRISPR/Cas9) Objective: To create a Ndufab1 knockout Mouse model (C57BL/6J) by CRISPR/Cas-mediated genome engineering. Strategy summary: The Ndufab1 gene (NCBI Reference Sequence: NM_028177 ; Ensembl: ENSMUSG00000030869 ) is located on Mouse chromosome 7. 5 exons are identified, with the ATG start codon in exon 1 and the TAA stop codon in exon 4 (Transcript: ENSMUST00000033157). Exon 2~4 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 2 starts from about 36.11% of the coding region. Exon 2~4 covers 64.1% of the coding region. The size of effective KO region: ~5146 bp. The KO region does not have any other known gene. Page 1 of 9 https://www.alphaknockout.com Overview of the Targeting Strategy Wildtype allele 5' gRNA region gRNA region 3' 1 2 3 4 5 Legends Exon of mouse Ndufab1 Knockout region Page 2 of 9 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 Exon 2 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 Exon 4 is aligned with itself to determine if there are tandem repeats.
    [Show full text]
  • NDUFAB1 Protects Heart by Coordinating Mitochondrial Respiratory Complex
    bioRxiv preprint doi: https://doi.org/10.1101/302281; this version posted April 16, 2018. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. NDUFAB1 Protects Heart by Coordinating Mitochondrial Respiratory Complex and Supercomplex Assembly Running title: Hou et al. Cardiac Protection by NDUFAB1 Tingting Hou 1; Rufeng Zhang 1; Chongshu Jian 1; Wanqiu Ding 1; Yanru Wang 1; Qi Ma 1; Xinli Hu 1; Heping Cheng 1,†; Xianhua Wang 1,† 1State Key Laboratory of Membrane Biology, Beijing Key Laboratory of Cardiometabolic Molecular Medicine, Peking-Tsinghua Center for Life Sciences, Institute of Molecular Medicine, Peking University, China. † Corresponding author. Xianhua Wang Tel: 86-10-62754605 Email: [email protected] Heping Cheng Tel: 86-10-62765957 Email: [email protected] bioRxiv preprint doi: https://doi.org/10.1101/302281; this version posted April 16, 2018. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. Abstract The impairment of mitochondrial bioenergetics, often coupled with exaggerated reactive oxygen species (ROS) production, is emerging as a common mechanism in diseases of organs with a high demand for energy, such as the heart. Building a more robust cellular powerhouse holds promise for protecting these organs in stressful conditions. Here, we demonstrate that NDUFAB1 (NADH:ubiquinone oxidoreductase subunit AB1), acts as a powerful cardio-protector by enhancing mitochondrial energy biogenesis. In particular, NDUFAB1 coordinates the assembly of respiratory complexes I, II, and III and supercomplexes, conferring greater capacity and efficiency of mitochondrial energy metabolism.
    [Show full text]
  • Anti-NDUFAB1 Monoclonal Antibody, Clone FQS7836 (DCABH-6999) This Product Is for Research Use Only and Is Not Intended for Diagnostic Use
    Anti-NDUFAB1 monoclonal antibody, clone FQS7836 (DCABH-6999) This product is for research use only and is not intended for diagnostic use. PRODUCT INFORMATION Product Overview Rabbit monoclonal to NDUFAB1 Antigen Description Carrier of the growing fatty acid chain in fatty acid biosynthesis in mitochondria. Accessory and non-catalytic subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain. Immunogen Synthetic peptide (the amino acid sequence is considered to be commercially sensitive) within Human NDUFAB1 aa 100 to the C-terminus. The exact sequence is proprietary.Database link: O14561 Isotype IgG Source/Host Rabbit Species Reactivity Mouse, Human Clone FQS7836 Purity Tissue culture supernatant Conjugate Unconjugated Applications IP, Flow Cyt, IHC-P, WB Positive Control Molt-4, A431 and HepG2 cell lysate. Human heart and kidney tissue. HepG2 cells. Format Liquid Size 100 μl Buffer Preservative: 0.01% Sodium azide; Constituents: 40% Glycerol, 59% PBS, 0.05% BSA Preservative 0.01% Sodium Azide Storage Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C long term. Avoid freeze / thaw cycle. Ship Shipped at 4°C. 45-1 Ramsey Road, Shirley, NY 11967, USA Email: [email protected] Tel: 1-631-624-4882 Fax: 1-631-938-8221 1 © Creative Diagnostics All Rights Reserved GENE INFORMATION Gene Name NDUFAB1 NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa [ Homo sapiens ] Official Symbol NDUFAB1
    [Show full text]
  • NDUFAB1 Rabbit Polyclonal Antibody – TA308227 | Origene
    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 TA308227 NDUFAB1 Rabbit Polyclonal Antibody Product data: Product Type: Primary Antibodies Applications: IF, IHC, WB Recommended Dilution: ICC/IF:1:100-1:1000; IHC:1:100-1:1000; WB:1:1000-1:10000 Reactivity: Human (Predicted: Bovine, Chimpanzee, Rhesus Monkey, X. tropicalis, Xenopus, Pig) Host: Rabbit Isotype: IgG Clonality: Polyclonal Immunogen: Synthetic peptide corresponding to a region within amino acids 93 and 156 of NDUFAB1 (Uniprot ID#O14561) Formulation: 0.1M Tris, 0.1M Glycine, 10% Glycerol (pH7). 0.01% Thimerosal was added as a preservative. Concentration: lot specific Purification: Purified by antigen-affinity chromatography. Conjugation: Unconjugated Storage: Store at -20°C as received. Stability: Stable for 12 months from date of receipt. Predicted Protein Size: 17 kDa Gene Name: NADH:ubiquinone oxidoreductase subunit AB1 Database Link: NP_004994 Entrez Gene 4706 Human O14561 Synonyms: ACP; FASN2A; SDAP Note: Seq homology of immunogen across species: Xenopus laevis (100%), Xenopus Tropicalis (100%), Pig (100%), Rhesus Monkey (100%), Chimpanzee (100%), Bovine (100%) Protein Pathways: Alzheimer's disease, Huntington's disease, Metabolic pathways, Oxidative phosphorylation, Parkinson's disease 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 / 3 NDUFAB1 Rabbit Polyclonal Antibody – TA308227 Product images: NDUFAB1 antibody detects NDUFAB1 protein by Western blot analysis. A. 30 ug GL261 whole cell lysate/extract.
    [Show full text]
  • Gene Section Review
    Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Gene Section Review PALB2 (partner and localizer of BRCA2) Helmut Hanenberg and Paul R. Andreassen Department of Pediatrics III, University Children's Hospital Essen, University Duisburg-Essen, Essen Germany; [email protected] (HH); Division of Experimental Hematology & Cancer Biology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati OH, USA; [email protected] (APR) Published in Atlas Database: April 2018 Online updated version : http://AtlasGeneticsOncology.org/Genes/PALB2ID46402ch16p12.html Printable original version : http://documents.irevues.inist.fr/bitstream/handle/2042/69016/04-2018-PALB2ID46402ch16p12.pdf DOI: 10.4267/2042/69016 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2018 Atlas of Genetics and Cytogenetics in Oncology and Haematology called FANCN and FANCD1, both characterized by Abstract severe congenital abnormalities and very early onset PALB2 (Partner and Localizer of BRCA2) was first of various cancers. This includes acute leukemias, identified as a BRCA2-interacting protein. Wilms tumor, medulloblastoma and Subsequently, PALB2 has been recognized as a cog neuroblastomas. Also, heterozygous germ-line in the cellular machinery for DNA repair by mutations of PALB2, like mutations in several other homologous recombination (HR). PALB2 also essential HR genes listed above, yield an increased mediates S and G2 DNA damage checkpoints, and susceptibility to breast and pancreatic cancer. has an apparent function in protecting Keywords transcriptionally active genes from genotoxic stress. Fanconi anemia; Breast Cancer Susceptibility; PALB2 also interacts with, is localized by, and Tumor Suppressor; Homologous Recombination; functions downstream of BRCA1.
    [Show full text]
  • NDUFAB1 Antibody (C-Term) Affinity Purified Rabbit Polyclonal Antibody (Pab) Catalog # Ap14139b
    10320 Camino Santa Fe, Suite G San Diego, CA 92121 Tel: 858.875.1900 Fax: 858.622.0609 NDUFAB1 Antibody (C-term) Affinity Purified Rabbit Polyclonal Antibody (Pab) Catalog # AP14139b Specification NDUFAB1 Antibody (C-term) - Product Information Application WB, IHC-P,E Primary Accession O14561 Other Accession Q9CR21, P52505, NP_004994.1 Reactivity Human Predicted Bovine, Mouse Host Rabbit Clonality Polyclonal Isotype Rabbit IgG Antigen Region 128-156 NDUFAB1 Antibody (C-term) - Additional Information NDUFAB1 Antibody (C-term) (Cat. #AP14139b) western blot analysis in Gene ID 4706 MDA-MB435 cell line lysates (35ug/lane).This demonstrates the NDUFAB1 antibody Other Names detected the NDUFAB1 protein (arrow). Acyl carrier protein, mitochondrial, ACP, CI-SDAP, NADH-ubiquinone oxidoreductase 96 kDa subunit, NDUFAB1 Target/Specificity This NDUFAB1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 128-156 amino acids from the C-terminal region of human NDUFAB1. Dilution WB~~1:1000 IHC-P~~1:10~50 Format Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A NDUFAB1 (C-term) column, followed by peptide affinity (AP14139b)immunohistochemistry analysis in purification. formalin fixed and paraffin embedded human kidney tissue followed by peroxidase Storage conjugation of the secondary antibody and Maintain refrigerated at 2-8°C for up to 2 DAB staining.This data demonstrates the use weeks. For long term storage store at -20°C of NDUFAB1 (C-term) for in small aliquots to prevent freeze-thaw immunohistochemistry. Clinical relevance has cycles. not been evaluated. Page 1/2 10320 Camino Santa Fe, Suite G San Diego, CA 92121 Tel: 858.875.1900 Fax: 858.622.0609 Precautions NDUFAB1 Antibody (C-term) is for research use only and not for use in diagnostic or NDUFAB1 Antibody (C-term) - Background therapeutic procedures.
    [Show full text]
  • Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions
    International Journal of Molecular Sciences Review Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions Margherita Protasoni 1 and Massimo Zeviani 1,2,* 1 Mitochondrial Biology Unit, The MRC and University of Cambridge, Cambridge CB2 0XY, UK; [email protected] 2 Department of Neurosciences, University of Padova, 35128 Padova, Italy * Correspondence: [email protected] Abstract: Mitochondria are ubiquitous intracellular organelles found in almost all eukaryotes and involved in various aspects of cellular life, with a primary role in energy production. The interest in this organelle has grown stronger with the discovery of their link to various pathologies, including cancer, aging and neurodegenerative diseases. Indeed, dysfunctional mitochondria cannot provide the required energy to tissues with a high-energy demand, such as heart, brain and muscles, leading to a large spectrum of clinical phenotypes. Mitochondrial defects are at the origin of a group of clinically heterogeneous pathologies, called mitochondrial diseases, with an incidence of 1 in 5000 live births. Primary mitochondrial diseases are associated with genetic mutations both in nuclear and mitochondrial DNA (mtDNA), affecting genes involved in every aspect of the organelle function. As a consequence, it is difficult to find a common cause for mitochondrial diseases and, subsequently, to offer a precise clinical definition of the pathology. Moreover, the complexity of this condition makes it challenging to identify possible therapies or drug targets. Keywords: ATP production; biogenesis of the respiratory chain; mitochondrial disease; mi-tochondrial electrochemical gradient; mitochondrial potential; mitochondrial proton pumping; mitochondrial respiratory chain; oxidative phosphorylation; respiratory complex; respiratory supercomplex Citation: Protasoni, M.; Zeviani, M.
    [Show full text]
  • BMC Cell Biology Biomed Central
    BMC Cell Biology BioMed Central Research article Open Access Identification of a subunit of NADH-dehydrogenase as a p49/STRAP-binding protein Xiaomin Zhang*1, Gohar Azhar3, Scott Helms1, Ying Zhong1 and Jeanne Y Wei*1,2 Address: 1From the Donald W. Reynolds Department of Geriatrics, The University of Arkansas for Medical Sciences and Geriatric Research, Education, and Clinical Center, Little Rock, AR, USA, 2Central Arkansas Veterans Healthcare System, Geriatric and Extended Care, Little Rock, AR, USA and 3Central Arkansas Veterans Healthcare System, Little Rock, AR, USA Email: Xiaomin Zhang* - [email protected]; Gohar Azhar - [email protected]; Scott Helms - [email protected]; Ying Zhong - [email protected]; Jeanne Y Wei* - [email protected] * Corresponding authors Published: 29 January 2008 Received: 1 August 2007 Accepted: 29 January 2008 BMC Cell Biology 2008, 9:8 doi:10.1186/1471-2121-9-8 This article is available from: http://www.biomedcentral.com/1471-2121/9/8 © 2008 Zhang et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Background: The p49/STRAP (or SRFBP1) protein was recently identified in our laboratory as a cofactor of serum response factor that contributes to the regulation of SRF target genes in the heart. Results: In the present study, we report that NDUFAB1, a nuclear encoded subunit of NADH dehydrogenase, represented the majority of the cDNA clones that interacted with p49/STRAP in multiple screenings using the yeast two-hybrid system.
    [Show full text]
  • Child and Adolescent Psychiatric Genetics Johannes Hebebrand, Andre Scherag, Benno G
    Child and adolescent psychiatric genetics Johannes Hebebrand, Andre Scherag, Benno G. Schimmelmann, Anke Hinney To cite this version: Johannes Hebebrand, Andre Scherag, Benno G. Schimmelmann, Anke Hinney. Child and adolescent psychiatric genetics. European Child and Adolescent Psychiatry, Springer Verlag (Germany), 2010, 19 (3), pp.259-279. 10.1007/s00787-010-0091-y. hal-00563486 HAL Id: hal-00563486 https://hal.archives-ouvertes.fr/hal-00563486 Submitted on 6 Feb 2011 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. Eur Child Adolesc Psychiatry (2010) 19:259–279 DOI 10.1007/s00787-010-0091-y REVIEW Child and adolescent psychiatric genetics Johannes Hebebrand • Andre Scherag • Benno G. Schimmelmann • Anke Hinney Received: 14 December 2009 / Accepted: 8 January 2010 / Published online: 6 February 2010 Ó Springer-Verlag 2010 Abstract The current status of child and adolescent the introductory article of this special issue of the European psychiatric genetics appears promising in light of the ini- Child and Adolescent Psychiatry. tiation of genome-wide association studies (GWAS) for diverse polygenic disorders and the molecular elucidation Keywords Candidate gene Á Linkage Á Rett syndrome Á of monogenic Rett syndrome, for which recent functional Gene–environment interaction Á Genome-wide studies provide hope for pharmacological treatment strat- association study egies.
    [Show full text]
  • Accessory Subunits Are Integral for Assembly and Function of Human Mitochondrial Complex I
    Accessory subunits are integral for assembly and function of human mitochondrial complex I David A. Stroud1*, Elliot E. Surgenor1, Luke E. Formosa1,2, Boris Reljic2†, Ann E. Frazier3,4, Marris G. Dibley1, Laura D. Osellame1, Tegan Stait3, Traude H. Beilharz1, David R. Thorburn3-5, Agus Salim6, Michael T. Ryan1* 1Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, 3800, Melbourne, Australia. 2Department of Biochemistry and Genetics, La Trobe Institute for Molecular Science, La Trobe University 3086, Melbourne, Australia. 3Murdoch Childrens Research Institute, Royal Children’s Hospital, Melbourne 3052, Australia 4Department of Pediatrics, University of Melbourne, Melbourne 3052, Australia. 5Victorian Clinical Genetics Services, Royal Children’s Hospital 3052, Melbourne, Australia. 6Department of Mathematics and Statistics, La Trobe University 3086, Melbourne Australia. *Correspondence to: [email protected] and [email protected] †Current address: Walter and Eliza Hall Institute of Medical Research, Parkville, Melbourne, Victoria 3052, Australia Complex I (NADH:ubiquinone oxidoreductase) is the first enzyme of the mitochondrial respiratory chain (RC) and is composed of 44 different subunits in humans, making it one of the largest known multi-subunit membrane protein complexes1. Complex I exists in supercomplex forms with RC complexes III and IV, which are together required for the generation of a transmembrane proton gradient used for the synthesis of ATP2. Complex I is also a major source of damaging reactive oxygen species and its dysfunction is associated with mitochondrial disease, Parkinson’s disease and aging3-5. Bacterial and human complex I share 14 core subunits essential for enzymatic function, however the role and requirement of the remaining 31 human accessory subunits is unclear1,6.
    [Show full text]