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Gene Review

BLM  -  Bloom syndrome, RecQ helicase-like

Gallus gallus

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Disease relevance of BLM


High impact information on BLM

  • The BLM(-/-) DT40 cells showed higher sensitivity to methyl methanesulfonate and elevated levels of SCE as expected [5].
  • Possible association of BLM in decreasing DNA double strand breaks during DNA replication [5].
  • We generated BLM(-/-) and BLM(-/-)/RAD54(-/-) DT40 cells from the chicken B-lymphocyte line DT40 [5].
  • The ORF1 of pido encoded a nucleic acid binding protein and ORF2 encoded a retroviral-like polyprotein that included apurinic/apyrimidinic endonuclease (EN) and reverse transcriptase (RT) domains, in that order [6].
  • ORF1 is predicted to encode a replication-associated protein (Rep) essential for replication of viral DNA, while ORF2 contains a conserved basic amino acid sequence at the N terminus resembling that of the major structural protein of chicken anaemia virus [2].

Biological context of BLM

  • However, a defect in ATM only slightly reduced the increased sister chromatid exchanges (SCEs) in BLM(-/-) DT40 cells [4].
  • The genes responsible for BS and A-T have been identified as BLM and ATM, respectively, whose products were recently found to be components of BRCA1-associated genome surveillance complex (BASC), a supercomplex possibly involved in the recognition and repair of aberrant DNA structures [4].
  • Northern blot analysis of RNA extracted from HVT-infected chick embryo fibroblasts identified a 5.6-kb RNA transcribed in a leftward direction toward UL scanning ORF 1, ORF 2, and ORF 3 and a 2.8-kb also transcribed leftward toward UL which spanned only ORFs 2 and 3 [1].
  • In the present study we derived a consensus sequence for this entire ORF (ORF2) as well as an upstream ORF (ORF1) and part of a 5' untranslated region (UTR) [7].

Associations of BLM with chemical compounds

  • The sensitivity of BLM(-/-)/ATM(-/-) cells to MMS and UV was similar to that of BLM(-/-) cells [4].

Other interactions of BLM

  • Disrupting the function of ATM reduced the targeted integration frequency in BLM(-/-) DT40 cells [4].


  1. Gene organization in herpesvirus of turkeys: identification of a novel open reading frame in the long unique region and a truncated homologue of pp38 in the internal repeat. Smith, G.D., Zelnik, V., Ross, L.J. Virology (1995) [Pubmed]
  2. Open reading frame 2 of porcine circovirus type 2 encodes a major capsid protein. Nawagitgul, P., Morozov, I., Bolin, S.R., Harms, P.A., Sorden, S.D., Paul, P.S. J. Gen. Virol. (2000) [Pubmed]
  3. Psittacine beak and feather disease virus nucleotide sequence analysis and its relationship to porcine circovirus, plant circoviruses, and chicken anaemia virus. Bassami, M.R., Berryman, D., Wilcox, G.E., Raidal, S.R. Virology (1998) [Pubmed]
  4. The absence of a functional relationship between ATM and BLM, the components of BASC, in DT40 cells. Wang, W., Seki, M., Otsuki, M., Tada, S., Takao, N., Yamamoto, K., Hayashi, M., Honma, M., Enomoto, T. Biochim. Biophys. Acta (2004) [Pubmed]
  5. Possible association of BLM in decreasing DNA double strand breaks during DNA replication. Wang, W., Seki, M., Narita, Y., Sonoda, E., Takeda, S., Yamada, K., Masuko, T., Katada, T., Enomoto, T. EMBO J. (2000) [Pubmed]
  6. pido, a non-long terminal repeat retrotransposon of the chicken repeat 1 family from the genome of the Oriental blood fluke, Schistosoma japonicum. Laha, T., Brindley, P.J., Verity, C.K., McManus, D.P., Loukas, A. Gene (2002) [Pubmed]
  7. Chicken repeat 1 (CR1) elements, which define an ancient family of vertebrate non-LTR retrotransposons, contain two closely spaced open reading frames. Haas, N.B., Grabowski, J.M., Sivitz, A.B., Burch, J.B. Gene (1997) [Pubmed]
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