PMID- 7907433
OWN - NLM
STAT- MEDLINE
DCOM- 19940411
LR  - 20191023
IS  - 0740-7750 (Print)
IS  - 0740-7750 (Linking)
VI  - 19
IP  - 6
DP  - 1993 Nov
TI  - Genetic instability on chromosome 16 in a human B lymphoblastoid cell line.
PG  - 515-27
AB  - Mutagenesis at the aprt locus in TK6 human lymphoblasts has been found to occur 
      at an unusually high rate (1.2 x 10(-9)) for a homozygous diploid locus. 
      Evaluation of linked microsatellite polymorphisms demonstrated that loss of 
      heterozygosity (LOH) accompanies conventional intragenic sequence alterations in 
      each APRT- mutant. LOH occurred without allele preference. The extent of loss was 
      highly uniform, ranging from 16q12 to 16qter in 36/38 APRT- mutants. Fluorescence 
      in situ hybridization (FISH), used in conjunction with microsatellite analysis, 
      demonstrated that the loss was not attributable to physical deletion, 
      nondisjunction, or nondisjunction with reduplication of the remaining chromosome. 
      LOH thus appears to be recombinationally mediated. FISH analysis also detected 
      translocations affecting chromosome 16 in 4/20 APRT- mutants examined. APRT- 
      mutants appear to arise as part of a genetic instability phenomenon since three 
      distinct genetic alterations affecting chromosome 16 are recovered in single 
      clones at a detectable rate. These events may be mechanistically related to early 
      events in gene amplification.
FAU - Smith, L E
AU  - Smith LE
AD  - Environmental Toxicology Graduate Program, University of California, Riverside 
      92521.
FAU - Grosovsky, A J
AU  - Grosovsky AJ
LA  - eng
GR  - R01 CA55659/CA/NCI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Somat Cell Mol Genet
JT  - Somatic cell and molecular genetics
JID - 8403568
RN  - 0 (DNA, Satellite)
RN  - EC 2.4.2.7 (Adenine Phosphoribosyltransferase)
SB  - IM
GS  - APRT
MH  - Adenine Phosphoribosyltransferase/*genetics
MH  - Alleles
MH  - B-Lymphocytes/*enzymology
MH  - Cell Line
MH  - *Chromosomes, Human, Pair 16
MH  - DNA Mutational Analysis
MH  - DNA, Satellite/genetics
MH  - Gene Amplification
MH  - Gene Deletion
MH  - Gene Expression Regulation, Neoplastic
MH  - Heterozygote
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Mutagenesis, Site-Directed
MH  - *Mutation
MH  - Polymorphism, Restriction Fragment Length
MH  - Recombination, Genetic
MH  - Translocation, Genetic
EDAT- 1993/11/01 00:00
MHDA- 1993/11/01 00:01
CRDT- 1993/11/01 00:00
PHST- 1993/11/01 00:00 [pubmed]
PHST- 1993/11/01 00:01 [medline]
PHST- 1993/11/01 00:00 [entrez]
AID - 10.1007/BF01233379 [doi]
PST - ppublish
SO  - Somat Cell Mol Genet. 1993 Nov;19(6):515-27. doi: 10.1007/BF01233379.