Journal Mobile Options
Table of Contents
Vol. 15, No. 4, 1998
Issue release date: February 1999
Section title: Paper
Exp Clin Immunogenet 1998;15:213–230
(DOI:10.1159/000019075)

Molecular Genetics of the Human MHC Complement Gene Cluster

Yu C.Y.
Children’s Hospital Research Foundation, and Department of Pediatrics, Department of Medical Microbiology and Immunology, The Ohio State University, Columbus, Ohio, USA

Do you have an account?

Register and profit from personalized services (MyKarger) Login Information

Please create your User ID & Password





Contact Information









I have read the Karger Terms and Conditions and agree.

Register and profit from personalized services (MyKarger) Login Information

Please create your User ID & Password





Contact Information









I have read the Karger Terms and Conditions and agree.

To view the fulltext, please log in

To view the pdf, please log in

Buy

  • FullText & PDF
  • Unlimited re-access via MyKarger (new!)
  • Unrestricted printing, no saving restrictions for personal use
  • Reduced rates with a PPV account
read more

Direct: USD 38.00
Account: USD 26.50

Select

Rent/Cloud

  • Rent for 48h to view
  • Buy Cloud Access for unlimited viewing via different devices
  • Synchronizing in the ReadCube Cloud
  • Printing and saving restrictions apply

Rental: USD 8.50
Cloud: USD 20.00

Select

Subscribe

  • Automatic perpetual access to all articles of the subscribed year(s)
  • Unlimited re-access via Subscriber Login or MyKarger
  • Unrestricted printing, no saving restrictions for personal use
read more

Subcription rates


Select


Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: 3/10/1999

Number of Print Pages: 18
Number of Figures: 4
Number of Tables: 0

ISSN: 0254-9670 (Print)
eISSN: 1421-9948 (Online)

For additional information: http://www.karger.com/ECI

Abstract

The human major histocompatibility complex (MHC) complement gene cluster (MCGC) is a highly variable region that is characterized by polymorphisms, variations in gene size and gene number, and associations with diseases. Deficiencies in complement C2 are either due to abolition of C2 protein synthesis by mini-deletions that caused frameshift mutations, or blocked secretion of the C2 protein by single amino acid substitutions. One, two or three C4 genes may be present in a human MCGC haplotype and these genes may code for C4A, C4B, or both. Deficiencies of C4A or C4B proteins are attributed to the expression of identical C4 isotypes or allotypes from the C4 loci, the absence or deletion of a C4 gene, 2-bp insertion at exon 29 or 1-bp deletion at exon 20 that caused frameshift mutations. The C4 genes are either 21 or 14.6 kb in size due to the presence of endogenous retrovirus HERV-K(C4) in the intron 9 of long C4 genes. A deletion or duplication of a C4 gene is always accompanied by its neighboring genes, RP at the 5′ region, and CYP21 and TNX at the 3′ region. These four genes form a genetic unit termed the RCCX module. In an RCCX bimodular structure, the pseudogene CYP21A, and partially duplicated gene segments TNXA and RP2 are present between the two C4 loci. The RCCX modular variations in gene number and gene size contributed to unequal crossovers and exchanges of polymorphic sequences/mutations, resulting in the homogenization of C4 polymorphisms and acquisitions of deleterious mutations in RP1, C4A, C4B, CYP21B and TNXB genes. RD, SKI2W, DOM3Z and RP1 are the four novel genes found between Bf and C4. RD and Ski2w proteins may be related to RNA splicing, RNA turnover and regulation of translation. The functions of Dom3z and RP1 are being investigated. The complete genomic DNA sequence between C2 and TNX is now available. This should facilitate a complete documentation of polymorphisms, mutations and disease associations for the MCGC.


  

Author Contacts

C. Yung Yu
Room W208, Wexner’s Institute for Pediatric Research,
700 Children’s Drive, Columbus, OH 43205-2696 (USA)
Tel. +1 614 722 2821, Fax +1 614 722 2774
E-Mail cyu@chi.osu.edu

  

Article Information

Received: Received: August 27, 1998
Accepted: September 30, 1998
Number of Print Pages : 18
Number of Figures : 4, Number of Tables : 3, Number of References : 105

  

Publication Details

Experimental and Clinical Immunogenetics

Vol. 15, No. 4, Year 1998 (Cover Date: Released February 1999)

Journal Editor: K. Bauer, Heidelberg
ISSN: 0254–9670 (print), 1421–9948 (Online)

For additional information: http://www.karger.com/journals/eci


Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: 3/10/1999

Number of Print Pages: 18
Number of Figures: 4
Number of Tables: 0

ISSN: 0254-9670 (Print)
eISSN: 1421-9948 (Online)

For additional information: http://www.karger.com/ECI


Copyright / Drug Dosage

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.