Low-sister-chromatid-exchange Bloom syndrome cell lines: An important new tool for mapping the basic genetic defect in Bloom syndrome and for unraveling the biology of human tumor development

Journal Article · Wed Nov 01 04:00:00 EST 1995 · American Journal of Human Genetics

OSTI ID:209888

Weksberg, R ^[1]

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1. Univ. of Toronto (Canada)

Bloom syndrome (BS) is a rare autosomal recessive disorder characterized by growth failure, immunodeficiency, and a predisposition to cancer. A variety of malignancies, including both carcinomas and leukemias, occur by age 30 years in {approximately}25% of patients. Cells from BS patients exhibit excessive chromosome breakage and rearrangements, suggesting a defect in DNA metabolism. Multiple defects of DNA replication and cell-cycle progression have been documented. Activity of several enzymes involved in DNA replication is altered, including that of DNA ligase I, uracil-DNA glycosylase, and super-oxide dismutase. Replication fork progression is retarded, and an unusual size distribution of DNA replication intermediates is observed. Cell-cycle kinetic studies show that BS fibroblasts are arrested in the G2 phase and often have an abnormally prolonged G1 phase. However, all these known defects in DNA metabolism appear to be secondary to the elusive fundamental genetic defect in BS. 30 refs.

• OSTI ID: 209888
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 5 Vol. 57; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
ANIMAL CELLS
CARCINOMAS
CELL CYCLE
CHROMOSOMAL ABERRATIONS
CHROMOSOME BREAKAGE
DNA
DNA REPLICATION
ENZYME ACTIVITY
ENZYMES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOMES
LEUKEMIA
METABOLISM
MUTATION FREQUENCY
NEOPLASMS
PATIENTS
RECESSIVE MUTATIONS
SISTER CHROMATID EXCHANGES
SOMATIC MUTATIONS