PMID- 10545950
OWN - NLM
STAT- MEDLINE
DCOM- 19991207
LR  - 20071114
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 23
IP  - 3
DP  - 1999 Nov
TI  - CACP, encoding a secreted proteoglycan, is mutated in
      camptodactyly-arthropathy-coxa vara-pericarditis syndrome.
PG  - 319-22
AB  - Altered growth and function of synoviocytes, the intimal cells which line joint
      cavities and tendon sheaths, occur in a number of skeletal diseases. Hyperplasia 
      of synoviocytes is found in both rheumatoid arthritis and osteoarthritis, despite
      differences in the underlying aetiologies of the two disorders. We have studied
      the autosomal recessive disorder camptodactyly-arthropathy-coxa vara-pericarditis
      syndrome (CACP; MIM 208250) to identify biological pathways that lead to
      synoviocyte hyperplasia, the principal pathological feature of this syndrome.
      Using a positional-candidate approach, we identified mutations in a gene (CACP)
      encoding a secreted proteoglycan as the cause of CACP. The CACP protein, which
      has previously been identified as both 'megakaryocyte stimulating factor
      precursor' and 'superficial zone protein', contains domains that have homology to
      somatomedin B, heparin-binding proteins, mucins and haemopexins. In addition to
      expression in joint synovium and cartilage, CACP is expressed in non-skeletal
      tissues including liver and pericardium. The similarity of CACP sequence to that 
      of other protein families and the expression of CACP in non-skeletal tissues
      suggest it may have diverse biological activities.
FAU - Marcelino, J
AU  - Marcelino J
AD  - Department of Genetics and Center for Human Genetics, Case Western Reserve
      University and University Hospitals of Cleveland, Cleveland, Ohio, USA.
FAU - Carpten, J D
AU  - Carpten JD
FAU - Suwairi, W M
AU  - Suwairi WM
FAU - Gutierrez, O M
AU  - Gutierrez OM
FAU - Schwartz, S
AU  - Schwartz S
FAU - Robbins, C
AU  - Robbins C
FAU - Sood, R
AU  - Sood R
FAU - Makalowska, I
AU  - Makalowska I
FAU - Baxevanis, A
AU  - Baxevanis A
FAU - Johnstone, B
AU  - Johnstone B
FAU - Laxer, R M
AU  - Laxer RM
FAU - Zemel, L
AU  - Zemel L
FAU - Kim, C A
AU  - Kim CA
FAU - Herd, J K
AU  - Herd JK
FAU - Ihle, J
AU  - Ihle J
FAU - Williams, C
AU  - Williams C
FAU - Johnson, M
AU  - Johnson M
FAU - Raman, V
AU  - Raman V
FAU - Alonso, L G
AU  - Alonso LG
FAU - Brunoni, D
AU  - Brunoni D
FAU - Gerstein, A
AU  - Gerstein A
FAU - Papadopoulos, N
AU  - Papadopoulos N
FAU - Bahabri, S A
AU  - Bahabri SA
FAU - Trent, J M
AU  - Trent JM
FAU - Warman, M L
AU  - Warman ML
LA  - eng
SI  - GENBANK/AA377436
SI  - GENBANK/U70136
GR  - AR43827/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  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (Proteoglycans)
RN  - 0 (RNA, Messenger)
SB  - IM
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Cattle
MH  - DNA Mutational Analysis
MH  - Female
MH  - Genotype
MH  - Humans
MH  - Hyperplasia/genetics/pathology
MH  - Joint Diseases/*genetics/pathology
MH  - Male
MH  - Molecular Sequence Data
MH  - Mutation
MH  - Pericarditis/*genetics/pathology
MH  - Phenotype
MH  - Proteoglycans/chemistry/*genetics/*metabolism
MH  - RNA, Messenger/analysis/genetics
MH  - Sequence Homology, Amino Acid
MH  - Syndrome
MH  - Synovial Membrane/metabolism/pathology
EDAT- 1999/11/05 08:00
MHDA- 2001/03/23 10:01
CRDT- 1999/11/05 08:00
PHST- 1999/11/05 08:00 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/11/05 08:00 [entrez]
AID - 10.1038/15496 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Nov;23(3):319-22. doi: 10.1038/15496.