PMID- 9790899
OWN - NLM
STAT- MEDLINE
DCOM- 19981123
LR  - 20061115
IS  - 0006-291X (Print)
IS  - 0006-291X (Linking)
VI  - 251
IP  - 1
DP  - 1998 Oct 9
TI  - Suppression of the 5' splice site mutation in the Nagase analbuminemic rat with 
      mutated U1snRNA.
PG  - 11-6
AB  - Nagase analbuminemic rats (NAR) are deficient in serum albumin due to skipping of 
      the albumin exon H caused by a mutation in the intron HI. This mutation deletes 
      nucleotides from +5 to +11 in the 5' splice site region, where it interacts with 
      U1snRNA. To determine whether the mutation can be suppressed by the compensatory 
      base substitution in U1snRNA, we constructed mutated U1snRNA genes with various 
      degrees of complementarity to the mutated 5' splice site. Several mutated U1snRNA 
      genes activated the mutated 5' splice site of the intron HI, when cotransfected 
      with the albumin minigene derived from NAR. In vivo activity of these mutated 
      U1snRNAs correlated well with the predicted thermodynamic stability. Since 
      mutation in the 5' splice site is one of common causes of genetic defects in 
      human (5), these data indicate that NAR is a good model system to examine the 
      possibility of gene therapy using a mutated U1snRNA.
CI  - Copyright 1998 Academic Press.
FAU - Hitomi, Y
AU  - Hitomi Y
AD  - Investigative Treatment Division, National Cancer Center Research Institute East, 
      6-5-1, Kashiwanoha, Chiba, Kashiwa, 277, Japan.
FAU - Sugiyama, K
AU  - Sugiyama K
FAU - Esumi, H
AU  - Esumi H
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Biochem Biophys Res Commun
JT  - Biochemical and biophysical research communications
JID - 0372516
RN  - 0 (RNA, Small Nuclear)
RN  - 0 (Serum Albumin)
SB  - IM
MH  - Animals
MH  - Binding Sites
MH  - COS Cells
MH  - Gene Deletion
MH  - Genetic Vectors/genetics
MH  - Humans
MH  - RNA Splicing/*genetics
MH  - RNA, Small Nuclear/*genetics/metabolism
MH  - Rats
MH  - Rats, Mutant Strains
MH  - Rats, Sprague-Dawley
MH  - Serum Albumin/*deficiency/*genetics
MH  - Suppression, Genetic/*physiology
MH  - Transfection
EDAT- 1998/10/29 00:00
MHDA- 1998/10/29 00:01
CRDT- 1998/10/29 00:00
PHST- 1998/10/29 00:00 [pubmed]
PHST- 1998/10/29 00:01 [medline]
PHST- 1998/10/29 00:00 [entrez]
AID - S0006-291X(98)99406-2 [pii]
AID - 10.1006/bbrc.1998.9406 [doi]
PST - ppublish
SO  - Biochem Biophys Res Commun. 1998 Oct 9;251(1):11-6. doi: 10.1006/bbrc.1998.9406.