PMID- 19309690
OWN - NLM
STAT- MEDLINE
DCOM- 20090730
LR  - 20101118
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 30
IP  - 5
DP  - 2009 May
TI  - Copy number variation at the FCGR locus includes FCGR3A, FCGR2C and FCGR3B but 
      not FCGR2A and FCGR2B.
PG  - E640-50
LID - 10.1002/humu.20997 [doi]
AB  - Human Fcgamma receptors (FcgammaRs) are glycoproteins that bind the Fc region of 
      IgG. The genes encoding the low-affinity FcgammaRs are located on chromosome 
      1q23-24. Beside single nucleotide polymorphisms (SNPs), gene copy number 
      variation (CNV) is now being recognized as an important indicator for 
      inter-individual differences. Recent studies on identifying CNV in the human 
      genome suggest large areas at chromosome 1q23-24 to be involved, and CNV in this 
      region has been associated with manifestations of systemic autoimmune disease. To 
      study both SNPs and CNV of the low-affinity FcgammaRs in one assay, we have 
      developed a Multiplex Ligation-dependent Probe Amplification (MLPA) assay. A 
      novel CNV for FCGR3A was observed. Similar to FCGR3B and FCGR2C, a gene-dosage 
      effect of FCGR3A was found, that seemed to correlate nicely with the FcgammaRIIIa 
      expression on NK cells. Next, we delineated the approximate boundaries of CNV at 
      the FCGR locus. Variation in co-segregation of neighboring FCGR genes was limited 
      to four variants, with patterns of Mendelian inheritance. No CNV of the FCGR2A 
      and FCGR2B genes was observed in over 600 individuals. In conclusion, we report a 
      novel CNV of the FCGR3A gene that correlates with FcgammaRIIIa expression and 
      function on NK cells. Only FCGR3A, FCGR2C and FCGR3B show CNV, in contrast to 
      FCGR2A and FCGR2B.
CI  - Copyright 2009 Wiley-Liss, Inc.
FAU - Breunis, Willemijn B
AU  - Breunis WB
AD  - Department of Pediatric Hematology, Immunology & Infectious Disease at Emma 
      Children's Hospital, Academic Medical Center, Amsterdam, 1105 AZ, The 
      Netherlands.
FAU - van Mirre, Edwin
AU  - van Mirre E
FAU - Geissler, Judy
AU  - Geissler J
FAU - Laddach, Nadja
AU  - Laddach N
FAU - Wolbink, Gertjan
AU  - Wolbink G
FAU - van der Schoot, Ellen
AU  - van der Schoot E
FAU - de Haas, Masja
AU  - de Haas M
FAU - de Boer, Martin
AU  - de Boer M
FAU - Roos, Dirk
AU  - Roos D
FAU - Kuijpers, Taco W
AU  - Kuijpers TW
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (FCGR2A protein, human)
RN  - 0 (FCGR2B protein, human)
RN  - 0 (FCGR3A protein, human)
RN  - 0 (FCGR3B protein, human)
RN  - 0 (Fc gamma receptor IIC)
RN  - 0 (GPI-Linked Proteins)
RN  - 0 (Receptors, IgG)
SB  - IM
MH  - Adult
MH  - Case-Control Studies
MH  - Cell Membrane/metabolism
MH  - Chromosomes, Human, Pair 1/genetics
MH  - Female
MH  - GPI-Linked Proteins
MH  - *Gene Dosage
MH  - Humans
MH  - Killer Cells, Natural/metabolism
MH  - Male
MH  - Pedigree
MH  - Polymorphism, Single Nucleotide/genetics
MH  - Receptors, IgG/*genetics
EDAT- 2009/03/25 09:00
MHDA- 2009/07/31 09:00
CRDT- 2009/03/25 09:00
PHST- 2009/03/25 09:00 [entrez]
PHST- 2009/03/25 09:00 [pubmed]
PHST- 2009/07/31 09:00 [medline]
AID - 10.1002/humu.20997 [doi]
PST - ppublish
SO  - Hum Mutat. 2009 May;30(5):E640-50. doi: 10.1002/humu.20997.