PMID- 9915958
OWN - NLM
STAT- MEDLINE
DCOM- 19990310
LR  - 20200824
IS  - 0002-9297 (Print)
IS  - 1537-6605 (Electronic)
IS  - 0002-9297 (Linking)
VI  - 64
IP  - 1
DP  - 1999 Jan
TI  - Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to 
      chromosome 19q13.
PG  - 189-95
AB  - Calcium homeostasis by the kidneys and parathyroids is mediated by the 
      calcium-sensing receptor (CaSR), which is located on 3q21-q24 and belongs to 
      family C of the superfamily of G-protein coupled receptors that includes those 
      for metabotropic glutamate, certain pheromones, and gamma-amino butyric acid 
      (GABA-B). Inactivating CaSR mutations result in familial benign hypercalcemia 
      (FBH), or familial hypocalciuric hypercalcemia (FHH), whereas activating 
      mutations result in hypocalcemic hypercalciuria. However, not all FBH patients 
      have CaSR mutations, which, together with the mapping of another FBH locus to 
      19p13.3, suggests that additional CaSRs or second messengers may be involved. 
      These may be identified by positional cloning, and we therefore performed a 
      genomewide search, using chromosome-specific sets of microsatellite 
      polymorphisms, in an Oklahoma family with an FBH variant (FBHOk), for which 
      linkage to 3q and 19p had been excluded. Linkage was established between FBHOk 
      and eight chromosome 19q13 loci, with the highest LOD score, 6.67 (recombination 
      fraction.00), obtained with D19S606. Recombinants further mapped FBHOk to a 
      <12-cM interval flanked by D19S908 and D19S866. The calmodulin III gene is 
      located within this interval, and DNA sequence analysis of the coding region, the 
      5' UTR, and part of the promoter region in an individual affected with FBHOk did 
      not detect any abnormalities, thereby indicating that this gene is unlikely to be 
      implicated in the etiology of FBHOk. This mapping of FBHOk to chromosome 19q13 
      will facilitate the identification of another CaSR or a mediator of calcium 
      homeostasis.
FAU - Lloyd, S E
AU  - Lloyd SE
AD  - Medical Research Council (MRC) Molecular Endocrinology Group, MRC Clinical 
      Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, 
      London, United Kingdom.
FAU - Pannett, A A
AU  - Pannett AA
FAU - Dixon, P H
AU  - Dixon PH
FAU - Whyte, M P
AU  - Whyte MP
FAU - Thakker, R V
AU  - Thakker RV
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (Calmodulin)
RN  - 0 (Receptors, Calcium-Sensing)
RN  - 0 (Receptors, Cell Surface)
RN  - SY7Q814VUP (Calcium)
SB  - IM
MH  - Calcium/physiology
MH  - Calmodulin/genetics
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 19
MH  - Chromosomes, Human, Pair 3
MH  - Female
MH  - Homeostasis
MH  - Humans
MH  - Hypercalcemia/*genetics
MH  - Introns
MH  - Lod Score
MH  - Male
MH  - Microsatellite Repeats
MH  - Pedigree
MH  - Receptors, Calcium-Sensing
MH  - Receptors, Cell Surface/*genetics
MH  - Sequence Analysis, DNA
PMC - PMC1377717
EDAT- 1999/01/23 19:27
MHDA- 2000/03/21 09:00
PMCR- 1999/07/01
CRDT- 1999/01/23 19:27
PHST- 1999/01/23 19:27 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 1999/01/23 19:27 [entrez]
PHST- 1999/07/01 00:00 [pmc-release]
AID - S0002-9297(07)61672-3 [pii]
AID - 10.1086/302202 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Jan;64(1):189-95. doi: 10.1086/302202.