The Bloom's syndrome gene product is homologous to RecQ helicases.
The Bloom's syndrome (BS) gene, BLM, plays an important role in the maintenance of genomic stability in somatic cells. A candidate for BLM was identified by direct selection of a cDNA derived from a 250 kb segment of the genome to which BLM had been assigned by somatic crossover point mapping. In this novel mapping method, cells were used from persons with BS that had undergone intragenic recombination within BLM. cDNA analysis of the candidate gene identified a 4437 bp cDNA that encodes a 1417 amino acid peptide with homology to the RecQ helicases, a subfamily of DExH box-containing DNA and RNA helicases. The presence of chain-terminating mutations in the candidate gene in persons with BS proved that it was BLM.
Ellis
N A
NA
Laboratory of Human Genetics, New York Blood Center, New York 10021, USA.
Groden
J
J
Ye
T Z
TZ
Straughen
J
J
Lennon
D J
DJ
Ciocci
S
S
Proytcheva
M
M
German
J
J
D000251:Adenosine Triphosphatases / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D001816:Bloom Syndrome / Q000235:genetics*; D002478:Cells, Cultured / Q000502:physiology; D003001:Cloning, Molecular; D004247:DNA / Q000032:analysis; D004265:DNA Helicases / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D012313:RNA / Q000502:physiology; D053484:RecQ Helicases; D012689:Sequence Homology, Nucleic Acid
D012313:RNA; D004247:DNA; D000251:Adenosine Triphosphatases; C506731:RECQL4 protein, human; D004265:DNA Helicases; D053484:RecQ Helicases