PMID- 10072631
OWN - NLM
STAT- MEDLINE
DCOM- 19990504
LR  - 20171101
IS  - 0254-9670 (Print)
IS  - 0254-9670 (Linking)
VI  - 15
IP  - 4
DP  - 1998
TI  - Molecular genetics of the human MHC complement gene cluster.
PG  - 213-30
AB  - 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.
FAU - Yu, C Y
AU  - Yu CY
AD  - Children's Hospital Research Foundation, and Department of Pediatrics, The Ohio
      State University, Columbus, Ohio, USA.cyu@chi.osu.edu
LA  - eng
GR  - 1P41 RR06009/RR/NCRR NIH HHS/United States
GR  - R01 AR43969/AR/NIAMS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PT  - Review
PL  - Switzerland
TA  - Exp Clin Immunogenet
JT  - Experimental and clinical immunogenetics
JID - 8411714
RN  - 9007-36-7 (Complement System Proteins)
SB  - IM
MH  - Chromosome Mapping
MH  - Complement System Proteins/deficiency/*genetics
MH  - Genetic Variation
MH  - Humans
MH  - *Major Histocompatibility Complex
MH  - Molecular Biology
MH  - *Multigene Family
MH  - Polymorphism, Genetic
RF  - 105
EDAT- 1999/03/11 03:01
MHDA- 2000/08/16 11:00
CRDT- 1999/03/11 03:01
PHST- 1999/03/11 03:01 [pubmed]
PHST- 2000/08/16 11:00 [medline]
PHST- 1999/03/11 03:01 [entrez]
AID - 19075 [pii]
AID - 10.1159/000019075 [doi]
PST - ppublish
SO  - Exp Clin Immunogenet. 1998;15(4):213-30. doi: 10.1159/000019075.