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Blood, 1 April 2005, Vol. 105, No. 7, pp. 2671-2676. Prepublished online as a Blood First Edition Paper on December 2, 2004; DOI 10.1182/blood-2004-09-3509. This Article Full Text Full Text (PDF) All Versions of this Article: 2004-09-3509v1 105/7/2671    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Martinez-Duncker, I. Articles by Mollicone, R. Search for Related Content PubMed PubMed Citation Articles by Martinez-Duncker, I. Articles by Mollicone, R. Related Collections Phagocytes Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  CLINICAL OBSERVATIONS, INTERVENTIONS, AND THERAPEUTIC TRIALS Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP–sialic acid transporter Ivan Martinez-Duncker, Thierry Dupré, Véronique Piller, Friedrich Piller, Jean-Jacques Candelier, Catherine Trichet, Gil Tchernia, Rafael Oriol, and Rosella Mollicone From the Institut National de la Santé et de la Recherche Médicale (INSERM U504) Groupement de Recherche (GDR), Centre National de la Recherche Scientifique (CNRS) 2590, University of Paris Sud XI, Villejuif, France; Laboratoire de biochimie A, Hôpital Bichat, Claude Bernard Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Centre de Biophysique Moléculaire-CNRS UPR4301, Orléans, France; and Laboratoire d'Hématologie, Immunologie et Cytogénétique, Hôpital Kremlin-Bicêtre, Kremlin-Bicêtre, France. We have identified a homozygous G>A substitution in the donor splice site of intron 6 (IVS6 + 1G>A) of the cytidine monophosphate (CMP)–sialic acid transporter gene of Lec2 cells as the mutation responsible for their asialo phenotype. These cells were used in complementation studies to test the activity of the 2 CMP–sialic acid transporter cDNA alleles of a patient devoid of sialyl-Lex expression on polymorphonuclear cells. No complementation was obtained with either of the 2 patient alleles, whereas full restoration of the sialylated phenotype was obtained in the Lec2 cells transfected with the corresponding human wild-type transcript. The inactivation of one patient allele by a double microdeletion inducing a premature stop codon at position 327 and a splice mutation of the other allele inducing a 130–base pair (bp) deletion and a premature stop codon at position 684 are proposed to be the causal defects of this disease. A 4-base insertion in intron 6 was found in the mother and is proposed to be responsible for the splice mutation. We conclude that this defect is a new type of congenital disorder of glycosylation (CDG) of type IIf affecting the transport of CMP–sialic acid into the Golgi apparatus. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: M. Crispin, V. T. Chang, D. J. Harvey, R. A. Dwek, E. J. Evans, D. I. Stuart, E. Y. Jones, J. M. Lord, R. A. Spooner, and S. J. Davis A Human Embryonic Kidney 293T Cell Line Mutated at the Golgi {alpha}-Mannosidase II Locus J. Biol. Chem., August 7, 2009; 284(32): 21684 - 21695. [Abstract] [Full Text] [PDF] E. Jamroz, D. Adamek, J. Paprocka, M. Adamowicz, E. Marszal, and R. A. Wevers CDG Type Ia and Congenital Cytomegalovirus Infection: Two Coexisting Conditions J Child Neurol, January 1, 2009; 24(1): 13 - 18. [Abstract] [PDF] T. Miyazaki, K. Angata, P. H. Seeberger, O. 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Huijben, D. J. Lefeber, and R. A. Wevers Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups Glycobiology, December 1, 2005; 15(12): 1312 - 1319. [Abstract] [Full Text] [PDF]

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