Genetics and Genomics Commons^™

The Dna Helicase Activity Of Blm Is Necessary For The Correction Of The Genomic Instability Of Bloom Syndrome Cells, Norma F. Neff, Nathan A. Ellis, Tian Zhang Ye, James Noonan, Kelly Huang, Maureen M. Sanz, Maria Proytcheva

Faculty Works: Biology, Chemistry, and Environmental Studies

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. BLM encodes 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 …