PMID- 7789182
OWN - NLM
STAT- MEDLINE
DCOM- 19950726
LR  - 20180214
IS  - 0301-0171 (Print)
IS  - 0301-0171 (Linking)
VI  - 70
IP  - 3-4
DP  - 1995
TI  - The human calcitonin receptor gene (CALCR) at 7q21.3 is outside the deletion 
      associated with the Williams syndrome.
PG  - 246-9
AB  - The human calcitonin receptor (CTR) is a transmembrane peptide with dual action 
      as a receptor for the hormone calcitonin and as an extracellular calcium sensor. 
      Therefore, CTR dysfunction could lead to disorders of calcium metabolism 
      associated with hypercalcemia, such as the Williams syndrome (WS). WS is a 
      developmental disorder caused by a deletion at chromosome 7q11.23 that includes 
      the elastin locus (ELN). We have mapped the CTR gene (CALCR) to chromosome band 
      7q21.3 by polymerase chain reaction and single-strand conformation analysis of 
      somatic cell hybrids as well as fluorescence in situ hybridization (FISH) to 
      metaphase chromosome spreads. Two-color FISH cohybridizing CTR and ELN probes 
      confirmed that CALCR maps telomeric to ELN. Subsequent analysis of chromosome 
      spreads from four WS patients revealed deletion of the ELN locus in all of them 
      and normal hybridization of CTR probes to both chromosome 7 homologues, 
      indicating that CALCR lies outside the deleted region.
FAU - Perez Jurado, L A
AU  - Perez Jurado LA
AD  - Department of Genetics, Stanford University School of Medicine, CA, USA.
FAU - Li, X
AU  - Li X
FAU - Francke, U
AU  - Francke U
LA  - eng
GR  - HG00298/HG/NHGRI 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  - Switzerland
TA  - Cytogenet Cell Genet
JT  - Cytogenetics and cell genetics
JID - 0367735
RN  - 0 (DNA Primers)
RN  - 0 (Receptors, Calcitonin)
RN  - 9007-58-3 (Elastin)
SB  - IM
GS  - CALCR
GS  - ELN
MH  - Animals
MH  - Base Sequence
MH  - *Chromosome Deletion
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 7
MH  - Cricetinae
MH  - Cricetulus
MH  - DNA Primers
MH  - Elastin/genetics
MH  - Genomic Library
MH  - Growth Disorders/*genetics
MH  - Humans
MH  - Hybrid Cells
MH  - In Situ Hybridization, Fluorescence
MH  - Molecular Sequence Data
MH  - Receptors, Calcitonin/*genetics
MH  - Syndrome
EDAT- 1995/01/01 00:00
MHDA- 1995/01/01 00:01
CRDT- 1995/01/01 00:00
PHST- 1995/01/01 00:00 [pubmed]
PHST- 1995/01/01 00:01 [medline]
PHST- 1995/01/01 00:00 [entrez]
AID - 10.1159/000134044 [doi]
PST - ppublish
SO  - Cytogenet Cell Genet. 1995;70(3-4):246-9. doi: 10.1159/000134044.