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C21orf2

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https://www.readbyqxmd.com/read/27548899/identification-of-novel-mutations-in-the-lrr-cap-domain-of-c21orf2-in-japanese-patients-with-retinitis-pigmentosa-and-cone-rod-dystrophy
#1
Akiko Suga, Atsushi Mizota, Mitsuhiro Kato, Kazuki Kuniyoshi, Kazutoshi Yoshitake, William Sultan, Masashi Yamazaki, Yoshikazu Shimomura, Kazuho Ikeo, Kazushige Tsunoda, Takeshi Iwata
PURPOSE: C21orf2 encodes a ciliary protein related to syndromic and nonsyndromic retinal degeneration. The purpose of this study was to identify novel mutations of C21orf2 associated with syndromic autosomal recessive retinitis pigmentosa (arRP) and autosomal recessive cone-rod dystrophy (arCRD) by using whole exome sequencing of a Japanese cohort. METHODS: Whole exome sequencing was performed on DNA from affected and healthy members from 147 families with retinal degenerations...
August 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27455348/genome-wide-association-analyses-identify-new-risk-variants-and-the-genetic-architecture-of-amyotrophic-lateral-sclerosis
#2
Wouter van Rheenen, Aleksey Shatunov, Annelot M Dekker, Russell L McLaughlin, Frank P Diekstra, Sara L Pulit, Rick A A van der Spek, Urmo Võsa, Simone de Jong, Matthew R Robinson, Jian Yang, Isabella Fogh, Perry Tc van Doormaal, Gijs H P Tazelaar, Max Koppers, Anna M Blokhuis, William Sproviero, Ashley R Jones, Kevin P Kenna, Kristel R van Eijk, Oliver Harschnitz, Raymond D Schellevis, William J Brands, Jelena Medic, Androniki Menelaou, Alice Vajda, Nicola Ticozzi, Kuang Lin, Boris Rogelj, Katarina Vrabec, Metka Ravnik-Glavač, Blaž Koritnik, Janez Zidar, Lea Leonardis, Leja Dolenc Grošelj, Stéphanie Millecamps, François Salachas, Vincent Meininger, Mamede de Carvalho, Susana Pinto, Jesus S Mora, Ricardo Rojas-García, Meraida Polak, Siddharthan Chandran, Shuna Colville, Robert Swingler, Karen E Morrison, Pamela J Shaw, John Hardy, Richard W Orrell, Alan Pittman, Katie Sidle, Pietro Fratta, Andrea Malaspina, Simon Topp, Susanne Petri, Susanne Abdulla, Carsten Drepper, Michael Sendtner, Thomas Meyer, Roel A Ophoff, Kim A Staats, Martina Wiedau-Pazos, Catherine Lomen-Hoerth, Vivianna M Van Deerlin, John Q Trojanowski, Lauren Elman, Leo McCluskey, A Nazli Basak, Ceren Tunca, Hamid Hamzeiy, Yesim Parman, Thomas Meitinger, Peter Lichtner, Milena Radivojkov-Blagojevic, Christian R Andres, Cindy Maurel, Gilbert Bensimon, Bernhard Landwehrmeyer, Alexis Brice, Christine A M Payan, Safaa Saker-Delye, Alexandra Dürr, Nicholas W Wood, Lukas Tittmann, Wolfgang Lieb, Andre Franke, Marcella Rietschel, Sven Cichon, Markus M Nöthen, Philippe Amouyel, Christophe Tzourio, Jean-François Dartigues, Andre G Uitterlinden, Fernando Rivadeneira, Karol Estrada, Albert Hofman, Charles Curtis, Hylke M Blauw, Anneke J van der Kooi, Marianne de Visser, An Goris, Markus Weber, Christopher E Shaw, Bradley N Smith, Orietta Pansarasa, Cristina Cereda, Roberto Del Bo, Giacomo P Comi, Sandra D'Alfonso, Cinzia Bertolin, Gianni Sorarù, Letizia Mazzini, Viviana Pensato, Cinzia Gellera, Cinzia Tiloca, Antonia Ratti, Andrea Calvo, Cristina Moglia, Maura Brunetti, Simona Arcuti, Rosa Capozzo, Chiara Zecca, Christian Lunetta, Silvana Penco, Nilo Riva, Alessandro Padovani, Massimiliano Filosto, Bernard Muller, Robbert Jan Stuit, Ian Blair, Katharine Zhang, Emily P McCann, Jennifer A Fifita, Garth A Nicholson, Dominic B Rowe, Roger Pamphlett, Matthew C Kiernan, Julian Grosskreutz, Otto W Witte, Thomas Ringer, Tino Prell, Beatrice Stubendorff, Ingo Kurth, Christian A Hübner, P Nigel Leigh, Federico Casale, Adriano Chio, Ettore Beghi, Elisabetta Pupillo, Rosanna Tortelli, Giancarlo Logroscino, John Powell, Albert C Ludolph, Jochen H Weishaupt, Wim Robberecht, Philip Van Damme, Lude Franke, Tune H Pers, Robert H Brown, Jonathan D Glass, John E Landers, Orla Hardiman, Peter M Andersen, Philippe Corcia, Patrick Vourc'h, Vincenzo Silani, Naomi R Wray, Peter M Visscher, Paul I W de Bakker, Michael A van Es, R Jeroen Pasterkamp, Cathryn M Lewis, Gerome Breen, Ammar Al-Chalabi, Leonard H van den Berg, Jan H Veldink
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, we fine-mapped a new risk locus on chromosome 21 and identified C21orf2 as a gene associated with ALS risk...
September 2016: Nature Genetics
https://www.readbyqxmd.com/read/26992781/molecular-genetics-of-cone-rod-dystrophy-in-chinese-patients-new-data-from-61-probands-and-mutation-overview-of-163-probands
#3
Li Huang, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, Wenmin Sun, Yan Xu, Wei Xin, Xiangming Guo, Qingjiong Zhang
Cone-rod dystrophy (CORD) is a common form of inherited retinal degeneration. Previously, we have conducted serial mutational analysis in probands with CORD either by Sanger sequencing or whole exome sequencing (WES). In the current study, variants in all genes from RetNet were selected from the whole exome sequencing data of 108 CORD probands (including 61 probands reported here for the first time) and were analyzed by multistep bioinformatics analysis, followed by Sanger sequencing and segregation validation...
May 2016: Experimental Eye Research
https://www.readbyqxmd.com/read/26974433/axial-spondylometaphyseal-dysplasia-is-caused-by-c21orf2-mutations
#4
Zheng Wang, Aritoshi Iida, Noriko Miyake, Koji M Nishiguchi, Kosuke Fujita, Toru Nakazawa, Abdulrahman Alswaid, Mohammed A Albalwi, Ok-Hwa Kim, Tae-Joon Cho, Gye-Yeon Lim, Bertrand Isidor, Albert David, Cecilie F Rustad, Else Merckoll, Jostein Westvik, Eva-Lena Stattin, Giedre Grigelioniene, Ikuyo Kou, Masahiro Nakajima, Hirohumi Ohashi, Sarah Smithson, Naomichi Matsumoto, Gen Nishimura, Shiro Ikegawa
Axial spondylometaphyseal dysplasia (axial SMD) is an autosomal recessive disease characterized by dysplasia of axial skeleton and retinal dystrophy. We conducted whole exome sequencing and identified C21orf2 (chromosome 21 open reading frame 2) as a disease gene for axial SMD. C21orf2 mutations have been recently found to cause isolated retinal degeneration and Jeune syndrome. We found a total of five biallelic C21orf2 mutations in six families out of nine: three missense and two splicing mutations in patients with various ethnic backgrounds...
2016: PloS One
https://www.readbyqxmd.com/read/26294103/c21orf2-is-mutated-in-recessive-early-onset-retinal-dystrophy-with-macular-staphyloma-and-encodes-a-protein-that-localises-to-the-photoreceptor-primary-cilium
#5
Arif O Khan, Tobias Eisenberger, Kerstin Nagel-Wolfrum, Uwe Wolfrum, Hanno J Bolz
BACKGROUND/AIM: We have noted a phenotype of early-onset retinal dystrophy with macular staphyloma but without high myopia. The aim of this study is to report the underlying genetic mutations and the subcellular localisation of the gene product in the retina. METHODS: Retrospective case series (2012-2015); immunohistochemical analyses of mammalian retina for in situ protein localisation. RESULTS: All three probands were first noted to have decreased vision at 3-6 years old which worsened over time...
December 2015: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/26290490/the-nek1-interactor-c21orf2-is-required-for-efficient-dna-damage-repair
#6
Xiao Fang, Han Lin, Xiaohui Wang, Qiuhong Zuo, Jun Qin, Pumin Zhang
Defective DNA damage response is a threat to genome stability and a proven cause of tumorigenesis. C21ORF2 (chromosome 21 open reading frame 2) is a novel gene on chromosome 21, and the C21ORF2 protein is found to interact with NEK1. Earlier studies showed that C21ORF2 might be associated with some human genetic diseases including Down syndrome. However, the cellular functions of C21ORF2 remain unknown. In the present study, we reported that C21ORF2 affected cell proliferation after DNA damage induced by ionizing radiation, and DNA repair was less efficient in C21ORF2-depleted cells compared with control cells...
October 2015: Acta Biochimica et Biophysica Sinica
https://www.readbyqxmd.com/read/26167768/an-sirna-based-functional-genomics-screen-for-the%C3%A2-identification-of-regulators-of-ciliogenesis-and-ciliopathy%C3%A2-genes
#7
Gabrielle Wheway, Miriam Schmidts, Dorus A Mans, Katarzyna Szymanska, Thanh-Minh T Nguyen, Hilary Racher, Ian G Phelps, Grischa Toedt, Julie Kennedy, Kirsten A Wunderlich, Nasrin Sorusch, Zakia A Abdelhamed, Subaashini Natarajan, Warren Herridge, Jeroen van Reeuwijk, Nicola Horn, Karsten Boldt, David A Parry, Stef J F Letteboer, Susanne Roosing, Matthew Adams, Sandra M Bell, Jacquelyn Bond, Julie Higgins, Ewan E Morrison, Darren C Tomlinson, Gisela G Slaats, Teunis J P van Dam, Lijia Huang, Kristin Kessler, Andreas Giessl, Clare V Logan, Evan A Boyle, Jay Shendure, Shamsa Anazi, Mohammed Aldahmesh, Selwa Al Hazzaa, Robert A Hegele, Carole Ober, Patrick Frosk, Aizeddin A Mhanni, Bernard N Chodirker, Albert E Chudley, Ryan Lamont, Francois P Bernier, Chandree L Beaulieu, Paul Gordon, Richard T Pon, Clem Donahue, A James Barkovich, Louis Wolf, Carmel Toomes, Christian T Thiel, Kym M Boycott, Martin McKibbin, Chris F Inglehearn, Fiona Stewart, Heymut Omran, Martijn A Huynen, Panagiotis I Sergouniotis, Fowzan S Alkuraya, Jillian S Parboosingh, A Micheil Innes, Colin E Willoughby, Rachel H Giles, Andrew R Webster, Marius Ueffing, Oliver Blacque, Joseph G Gleeson, Uwe Wolfrum, Philip L Beales, Toby Gibson, Dan Doherty, Hannah M Mitchison, Ronald Roepman, Colin A Johnson
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium, obtaining a global resource. We identify 112 candidate ciliogenesis and ciliopathy genes, including 44 components of the ubiquitin-proteasome system, 12 G-protein-coupled receptors, and 3 pre-mRNA processing factors (PRPF6, PRPF8 and PRPF31) mutated in autosomal dominant retinitis pigmentosa...
August 2015: Nature Cell Biology
https://www.readbyqxmd.com/read/23105016/autozygome-guided-exome-sequencing-in-retinal-dystrophy-patients-reveals-pathogenetic-mutations-and-novel-candidate-disease-genes
#8
Leen Abu-Safieh, May Alrashed, Shamsa Anazi, Hisham Alkuraya, Arif O Khan, Mohammed Al-Owain, Jawahir Al-Zahrani, Lama Al-Abdi, Mais Hashem, Salwa Al-Tarimi, Mohammed-Adeeb Sebai, Ahmed Shamia, Mohamed D Ray-Zack, Malik Nassan, Zuhair N Al-Hassnan, Zuhair Rahbeeni, Saad Waheeb, Abdullah Alkharashi, Emad Abboud, Selwa A F Al-Hazzaa, Fowzan S Alkuraya
Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of photoreceptor function and contributes significantly to the etiology of blindness globally but especially in the industrialized world. The extreme locus and allelic heterogeneity of these disorders poses a major diagnostic challenge and often impedes the ability to provide a molecular diagnosis that can inform counseling and gene-specific treatment strategies. In a large cohort of nearly 150 RD families, we used genomic approaches in the form of autozygome-guided mutation analysis and exome sequencing to identify the likely causative genetic lesion in the majority of cases...
February 2013: Genome Research
https://www.readbyqxmd.com/read/16378112/-cell-cycle-negative-regulatory-gene-ana-is-over-expressed-in-the-brain-tissues-of-patients-with-down-syndrome
#9
Xiang-jun He, Qi Zhang, Li-ping Ma, Li-jun Yang, Huan Shen, Jing-zhu Guo
OBJECTIVE: To investigate the expression level of genes located in chromosome 21 in the brain tissues of Down syndrome(DS). METHODS: An optimized semi-quantitative RT-PCR method was used to evaluate the expression levels of seven genes encoded in chromosome 21 in fetal cortex brain and cerebellum of DS and the control at the end of 20 weeks of gestation. B2M was used as internal reference to normalize cell loss. RESULTS: The expression levels of 6 genes in cortex and cerebellum, including DYRK1A, SYNJ1, PCP4, C21orf5, C21orf2 and C21orf106, were comparable between DS and the control...
December 18, 2005: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/15068244/reduction-of-chromatin-assembly-factor-1-p60-and-c21orf2-protein-encoded-on-chromosome-21-in-down-syndrome-brain
#10
COMPARATIVE STUDY
K S Shim, J M Bergelson, M Furuse, V Ovod, T Krude, G Lubec
Trisomy 21 (Down syndrome, DS) is the most common genetic cause of mental retardation, resulting from triplication of the whole or distal part of human chromosome 21. Overexpression of genes located on chromosome 21, as a result of extra gene load, has been considered a central hypothesis for the explanation of the DS phenotype. This gene dosage hypothesis has been challenged, however. We have therefore decided to study proteins whose genes are encoded on chromosome 21 in brain of patients with DS and Alzheimer's disease (AD), as all patients with DS from the fourth decade show Alzheimer-related neuropathology...
2003: Journal of Neural Transmission. Supplementum
https://www.readbyqxmd.com/read/12624744/protein-levels-of-genes-encoded-on-chromosome-21-in-fetal-down-syndrome-brain-challenging-the-gene-dosage-effect-hypothesis-part-iii
#11
M S Cheon, S H Kim, V Ovod, N Kopitar Jerala, J I Morgan, Y Hatefi, T Ijuin, T Takenawa, G Lubec
Down syndrome (DS) is the most frequent genetic disorder with mental retardation and caused by trisomy 21. Although the gene dosage effect hypothesis has been proposed to explain the impact of extra chromosome 21 on the pathology of DS, a series of evidence that challenge this hypothesis has been reported. The availability of the complete sequences of genes on chromosome 21 serves now as starting point to find functional information of the gene products, but information on gene products is limited so far. We therefore evaluated expression levels of six proteins whose genes are encoded on chromosome 21 (synaptojanin-1, chromosome 21 open reading frame 2, oligomycin sensitivity confering protein, peptide 19, cystatin B and adenosine deaminase RNA-specific 2) in fetal cerebral cortex from DS and controls at 18-19 weeks of gestational age using Western blot analysis...
2003: Amino Acids
https://www.readbyqxmd.com/read/12384809/characterisation-of-tumour-associated-antigens-in-colon-cancer
#12
Aija Line, Zane Slucka, Aivars Stengrevics, Karina Silina, Geng Li, Robert C Rees
In order to search for clinically relevant cancer-associated genes and to define further the spectrum of immunogenic proteins, we applied SEREX (serological identification of antigens by recombinant expression cloning) to analyse genes expressed in colon adenocarcinoma. Eight different serum-reactive cDNA clones were isolated by immunoscreening from a colon cancer-derived cDNA expression library. mRNA expression studies showed that 2 of them, RHAMM and AD034, have a differential tissue distribution, and that 3 genes, NAP1L1, RHAMM and AD034, are overexpressed in tumours in comparison with the adjacent non-cancerous tissues...
November 2002: Cancer Immunology, Immunotherapy: CII
https://www.readbyqxmd.com/read/9570943/construction-of-a-2-5-mb-integrated-physical-and-gene-map-of-distal-21q22-3
#13
V Lapenta, V Sossi, P Gosset, C Vayssettes, T Vitali, N Rabatel, F Tassone, J L Blouin, H S Scott, S E Antonarakis, N Créau, C Brahe
The gene-rich telomeric region of 21q harbors several loci relevant to human diseases including autoimmune polyglandular disease type I, nonsyndromic deafness, Knobloch syndrome, holoprosencephaly, and bipolar affective disorder. A contig of genomic clones in this region would facilitate the isolation of these genes. However, distal 21q22.3 has yet been poorly mapped, presumably due to the presence of sequences that are underrepresented in yeast artificial chromosome (YAC) libraries. We generated a framework of YACs and used these clones as starting points for the isolation of a combination of bacterial artificial chromosome clones, P1-derived artificial chromosome clones, and cosmid clones by chromosome walking procedures...
April 1, 1998: Genomics
https://www.readbyqxmd.com/read/9465297/characterization-of-a-novel-gene-c21orf2-on-human-chromosome-21q22-3-and-its-exclusion-as-the-apeced-gene-by-mutation-analysis
#14
H S Scott, D S Kyriakou, P Peterson, M Heino, M Tähtinen, K Krohn, H Chen, C Rossier, M D Lalioti, S E Antonarakis
Exon trapping was performed from a partial cosmid, PAC, and P1 clone contig from human chromosome 21 between MX1 and 21qter to identify genes that may be involved in the pathogenesis of Down syndrome or several of the genetic diseases that map to chromosome 21q22.3. One 19-bp exon showed identity to three ESTs. The complete sequence of the EST clones, RT-PCR, and cDNA library screening were used to determine the full-length cDNA sequence of 2.2 kb with an open reading frame of 256-amino-acids. The putative 256-amino-acid peptide has homology with a hypothetical Caehorhabditis elegans protein of unknown function...
January 1, 1998: Genomics
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