PMID- 8600466
OWN - NLM
STAT- MEDLINE
DCOM- 19960501
LR  - 20190501
IS  - 0305-1048 (Print)
IS  - 1362-4962 (Electronic)
IS  - 0305-1048 (Linking)
VI  - 24
IP  - 5
DP  - 1996 Mar 1
TI  - A novel 80 kDa human estrogen receptor containing a duplication of exons 6 and 7.
PG  - 962-9
AB  - Alterations in the amino acid sequence of the estrogen receptor (ER) have been 
      shown to have dramatic effects on its function. Recently, mutant ERs have been 
      isolated from both clinical samples and established breast cancer cell lines, 
      primarily through the use of the polymerase chain reaction (PCR). All previously 
      reported mutations have given rise to either alterations or truncations of the ER 
      protein. We determined the structure of a novel 80 kDa ER which is expressed in 
      an estrogen independent subclone of the MCF-7 human breast cancer cell line 
      (MCF-7:2A). This 80 kDa ER was initially detected by Western blot analysis using 
      a variety of ER specific antibodies. PCR mapping and partial PCR mediated 
      subcloning of the ER cDNA were used to demonstrate that this protein was an ER 
      containing an in-frame duplication of exons 6 and 7. This type of duplication has 
      not been previously described for any members of the steroid receptor 
      superfamily. Karyotype analysis coupled with fluorescence in situ hybridization 
      (FISH) demonstrated that MCF-7:2A cells contained 4-5 copies of the ER gene in 
      contrast to 2 copies in MCF-7:WS8 cells. The ER gene was localized by FISH 
      analyses in both the MCF-7:WS8 and MCF-7:2A cells on chromosome 6, which is the 
      source of the ER in normal human cells. The relative expression level of 2:1 is 
      consistent with DNA gene dosage analysis. Genomic PCR was then used to 
      demonstrate that the 80 kDa ER mRNA was not derived from the trans-splicing of 
      two ER mRNAs but was the result of a genomic rearrangement in which exons 6 and 7 
      were duplicated in an in-frame fashion. This variant ER may prove to be useful in 
      elucidating the mechanism of estrogen action in breast cancer cells.
FAU - Pink, J J
AU  - Pink JJ
AD  - Department of Human Oncology, University of Wisconsin Comprehensive Cancer 
      Center, Madison 53792, USA.
FAU - Wu, S Q
AU  - Wu SQ
FAU - Wolf, D M
AU  - Wolf DM
FAU - Bilimoria, M M
AU  - Bilimoria MM
FAU - Jordan, V C
AU  - Jordan VC
LA  - eng
SI  - GENBANK/U47678
GR  - 5T31-CA09471/CA/NCI NIH HHS/United States
GR  - CA 32713/CA/NCI 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  - England
TA  - Nucleic Acids Res
JT  - Nucleic acids research
JID - 0411011
RN  - 0 (Receptors, Estrogen)
SB  - IM
MH  - Base Sequence
MH  - Breast Neoplasms/*metabolism
MH  - Chromosome Banding
MH  - Chromosome Mapping
MH  - Cloning, Molecular
MH  - Exons/*genetics
MH  - Female
MH  - Humans
MH  - Molecular Sequence Data
MH  - Molecular Weight
MH  - Receptors, Estrogen/genetics/*isolation & purification
MH  - Tumor Cells, Cultured
PMC - PMC145723
EDAT- 1996/03/01 00:00
MHDA- 1996/03/01 00:01
PMCR- 1996/03/01
CRDT- 1996/03/01 00:00
PHST- 1996/03/01 00:00 [pubmed]
PHST- 1996/03/01 00:01 [medline]
PHST- 1996/03/01 00:00 [entrez]
PHST- 1996/03/01 00:00 [pmc-release]
AID - 5a0554 [pii]
AID - 10.1093/nar/24.5.962 [doi]
PST - ppublish
SO  - Nucleic Acids Res. 1996 Mar 1;24(5):962-9. doi: 10.1093/nar/24.5.962.