PMID- 10207042
OWN - NLM
STAT- MEDLINE
DCOM- 19990520
LR  - 20190508
IS  - 0021-9258 (Print)
IS  - 0021-9258 (Linking)
VI  - 274
IP  - 17
DP  - 1999 Apr 23
TI  - Modular variations of the human major histocompatibility complex class III genes 
      for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase
      CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and
      disease associations.
PG  - 12147-56
AB  - The frequent variations of human complement component C4 gene size and gene
      numbers, plus the extensive polymorphism of the proteins, render C4 an excellent 
      marker for major histocompatibility complex disease associations. As shown by
      definitive RFLPs, the tandemly arranged genes RP, C4, CYP21, and TNX are
      duplicated together as a discrete genetic unit termed the RCCX module.
      Duplications of the RCCX modules occurred by the addition of genomic fragments
      containing a long (L) or a short (S) C4 gene, a CYP21A or a CYP21B gene, and the 
      gene fragments TNXA and RP2. Four major RCCX structures with bimodular L-L,
      bimodular L-S, monomodular L, and monomodular S are present in the Caucasian
      population. These modules are readily detectable by TaqI RFLPs. The RCCX modular 
      variations appear to be a root cause for the acquisition of deleterious mutations
      from pseudogenes or gene segments in the RCCX to their corresponding functional
      genes. In a patient with congenital adrenal hyperplasia, we discovered a
      TNXB-TNXA recombinant with the deletion of RP2-C4B-CYP21B. Elucidation of the DNA
      sequence for the recombination breakpoint region and sequence analyses yielded
      definitive proof for an unequal crossover between TNXA from a bimodular
      chromosome and TNXB from a monomodular chromosome.
FAU - Yang, Z
AU  - Yang Z
AD  - Children's Hospital Research Foundation, Columbus, Ohio 43205, USA.
FAU - Mendoza, A R
AU  - Mendoza AR
FAU - Welch, T R
AU  - Welch TR
FAU - Zipf, W B
AU  - Zipf WB
FAU - Yu, C Y
AU  - Yu CY
LA  - eng
SI  - GENBANK/AF086641
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.
PL  - United States
TA  - J Biol Chem
JT  - The Journal of biological chemistry
JID - 2985121R
RN  - 0 (Complement C4)
RN  - 0 (Tenascin)
RN  - 9007-49-2 (DNA)
RN  - EC 1.14.14.16 (Steroid 21-Hydroxylase)
RN  - EC 2.7.11.1 (Protein-Serine-Threonine Kinases)
SB  - IM
MH  - Adrenal Hyperplasia, Congenital/genetics
MH  - Arthritis, Juvenile/genetics
MH  - Base Sequence
MH  - Complement C4/*genetics
MH  - DNA
MH  - *Gene Deletion
MH  - Gene Duplication
MH  - Humans
MH  - Major Histocompatibility Complex/*genetics
MH  - Molecular Sequence Data
MH  - Polymorphism, Restriction Fragment Length
MH  - Protein-Serine-Threonine Kinases/*genetics
MH  - Sequence Homology, Nucleic Acid
MH  - Steroid 21-Hydroxylase/*genetics
MH  - Tenascin/*genetics
MH  - Tumor Cells, Cultured
EDAT- 1999/04/17 00:00
MHDA- 1999/04/17 00:01
CRDT- 1999/04/17 00:00
PHST- 1999/04/17 00:00 [pubmed]
PHST- 1999/04/17 00:01 [medline]
PHST- 1999/04/17 00:00 [entrez]
AID - 10.1074/jbc.274.17.12147 [doi]
PST - ppublish
SO  - J Biol Chem. 1999 Apr 23;274(17):12147-56. doi: 10.1074/jbc.274.17.12147.