Abstract
Bloom syndrome (BLM) is a genetic disorder associated with predisposition to cancer and chromosome instability. However, the most readily recognized clinical feature of the syndrome is growth retardation. Introduction of the previously cloned BLM gene into BLM cells yielded correction of the chromosome instability and slow growth phenotypes. Additionally, asynchronous cultures of complemented clones revealed a lower percentage of cells in S-phase than uncomplemented BLM cells. These results support the notion that BLM is a defect in which short stature, chromosome instability and cancer predisposition are all associated with an error in DNA replication.
Publication types
-
Research Support, U.S. Gov't, P.H.S.
MeSH terms
-
Adenosine Triphosphatases / genetics
-
Base Sequence
-
Bloom Syndrome / genetics*
-
Bloom Syndrome / metabolism
-
Bloom Syndrome / pathology*
-
Cell Division / genetics
-
Cell Line, Transformed
-
Cell Transformation, Neoplastic / genetics
-
Cloning, Molecular
-
DNA Helicases / genetics
-
DNA Primers / genetics
-
DNA Replication / genetics
-
DNA, Complementary / genetics
-
Genetic Complementation Test
-
Growth Disorders / genetics
-
Humans
-
Phenotype
-
Polymerase Chain Reaction
-
RecQ Helicases
-
Sister Chromatid Exchange / genetics
Substances
-
DNA Primers
-
DNA, Complementary
-
Adenosine Triphosphatases
-
Bloom syndrome protein
-
DNA Helicases
-
RecQ Helicases