PMID: 2118657Sep 1, 1990Paper

Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site

Proceedings of the National Academy of Sciences of the United States of America
R B ParadA E Davis

Abstract

Hereditary angioneurotic edema is inherited as an autosomal dominant disorder and is characterized by potentially life-threatening episodic angioedema. In type II hereditary angioneurotic edema, a dysfunctional C1 inhibitor molecule is present together with low levels of normal C1 inhibitor. About 70% of these dysfunctional proteins result from reactive center (Arg-444) mutations. We describe the deletion of nucleotides encoding Lys-251 (AAG) in C1 inhibitor Ta, the dysfunctional C1 inhibitor from a family with type II hereditary angioneurotic edema. DNA sequence analysis was derived from clones obtained through polymerase chain reaction amplification of blood monocyte C1 inhibitor mRNA. As expected, clones with both normal and abnormal sequence were isolated. The deletion was verified by protein sequence analysis. These data, together with biochemical analysis of the protein and cell-free translation studies, suggest that this deletion, by altering the normal amino acid sequence from Asn-Lys-Ile-Ser to Asn-Ile-Ser, creates a new glycosylation site. The additional carbohydrate accounts for the larger size on SDS/PAGE and very likely interferes with protein function.

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Citations

Sep 5, 2001·Molecular Immunology·A CarugatiM Cicardi
Sep 27, 1994·Proceedings of the National Academy of Sciences of the United States of America·J J BisslerA E Davis
Dec 18, 2001·Journal of Clinical Gastroenterology·Ugochukwu C NzeakoWilliam J Tremaine
Mar 1, 1993·The Journal of Clinical Investigation·J KramerR C Strunk
Jun 4, 2013·The Journal of Allergy and Clinical Immunology·Bruce L ZurawUNKNOWN American College of Allergy, Asthma and Immunology
Jul 4, 2006·Clinical Genetics·S GuarinoG Novelli
Feb 13, 2001·Clinical Immunology : the Official Journal of the Clinical Immunology Society·B BowenJ M Weiler
Apr 27, 2016·Clinical Reviews in Allergy & Immunology·Anastasios E Germenis, Matthaios Speletas
Mar 17, 2000·The Journal of Allergy and Clinical Immunology·B L Zuraw, J Herschbach
Jul 28, 2016·Clinical Reviews in Allergy & Immunology·Bruce L Zuraw, Sandra C Christiansen
Jun 1, 2005·Nature Genetics·Guillaume VogtJean-Laurent Casanova
Feb 1, 1995·Nature Structural Biology·P E Stein, R W Carrell
Jun 23, 2005·Human Mutation·Olga RocheMargarita López-Trascasa
Sep 27, 1996·The Journal of Biological Chemistry·R ZahediA E Davis
Jan 1, 1993·International Reviews of Immunology·V H Donaldson
Nov 2, 2019·The Journal of Allergy and Clinical Immunology. in Practice·Anastasios E GermenisUNKNOWN Hereditary Angioedema International Working Group
May 1, 2007·Current Opinion in Genetics & Development·Guillaume VogtJean-Laurent Casanova

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