Frequency of sister chromatid exchanges in Bloom syndrome fibroblasts reduced by cocultivation with normal cells

1979 ◽  
Vol 46 (3) ◽  
pp. 331-334 ◽  
Author(s):  
C. R. Bartram ◽  
H. W. R�diger ◽  
E. Passarge
1982 ◽  
Vol 58 (8) ◽  
pp. 260-264 ◽  
Author(s):  
Yukimasa SHIRAISHI ◽  
Tosihide H. YOSIDA ◽  
Avery A. SANDBERG

1999 ◽  
Vol 10 (3) ◽  
pp. 665-676 ◽  
Author(s):  
Norma F. Neff ◽  
Nathan A. Ellis ◽  
Tian Zhang Ye ◽  
James Noonan ◽  
Kelly Huang ◽  
...  

Bloom syndrome (BS) is a rare autosomal recessive disorder characterized by growth deficiency, immunodeficiency, genomic instability, and the early development of cancers of many types. BLM, the protein encoded by BLM, the gene mutated in BS, is localized in nuclear foci and absent from BS cells. BLMencodes a DNA helicase, and proteins from three missense alleles lack displacement activity. BLM transfected into BS cells reduces the frequency of sister chromatid exchanges and restores BLM in the nucleus. Missense alleles fail to reduce the sister chromatid exchanges in transfected BS cells or restore the normal nuclear pattern. BLM complements a phenotype of aSaccharomyces cerevisiae sgs1 top3 strain, and the missense alleles do not. This work demonstrates the importance of the enzymatic activity of BLM for its function and nuclear localization pattern.


1983 ◽  
Vol 122 (2) ◽  
pp. 223-228 ◽  
Author(s):  
Yukimasa Shiraishi ◽  
Yuko Tanaka ◽  
Mieko Kato ◽  
Masanao Miwa ◽  
Takashi Sugimura

Sign in / Sign up

Export Citation Format

Share Document