[Bloom syndrome].
Bloom syndrome (BS) is a rare genetic disorder characterized by small body size, sunsensitivity, immunodeficiency and a high predisposition to various types of cancer. BLM was identified as the causative gene for BS, and BLM protein is homologous to DNA helicase. In 1995 the causative gene for BS was identified using somatic crossover point mapping and termed BLM. BLM is a 4437 bp cDNA that encodes a 1417 amino acid peptide which is homologous to ATP-dependent DNA helicases. DNA helicases are the enzymes which catalyze the unwinding of double-stranded DNA to provide single- stranded templates for the processes of replication, repair, recombination and transcription. BLM is a member of the RecQ helicase family, consisting of human WRN, RECQL and yeast Sgs1. The BLM protein translocates into the nucleus and the distal arm of the bipartite basic residues in the C-terminus of the BLM protein is essential for targeting the nucleus. Here, we also describe relationship between the BLM gene and the cancer.
Kondo
N
N
Department of Pediatrics, Gifu University School of Medicine.
D000251:Adenosine Triphosphatases / Q000737:chemistry / Q000235:genetics; D000595:Amino Acid Sequence; D001816:Bloom Syndrome / Q000235:genetics; D004265:DNA Helicases / Q000737:chemistry / Q000235:genetics; D004260:DNA Repair; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D053484:RecQ Helicases
D000251:Adenosine Triphosphatases; C097151:Bloom syndrome protein; D004265:DNA Helicases; D053484:RecQ Helicases