Recombinant Human RecQ-like DNA helicase BLM (BLM), partial

1. BLM utilizes its pro- and anti-DNA repair functions to maintain genome stability. PMID: 29523790
2. Low BLM expression is associated with Colorectal Cancer. PMID: 29386092
3. BLM is actively recruited to the alternative lengthening of telomeres that are experiencing replication stress and that the recruitment of BLM to these damaged telomeres is interdependent and is regulated by both ATR and Chk1. PMID: 28673972
4. Our data highlights that BLM helicase and hSSB1 function in a dynamic complex in cells and that this complex is likely required for BLM protein stability and function. PMID: 28506294
5. In the absence of BLM, sister chromatid exchange events do not occur randomly throughout the genome but are strikingly enriched at coding regions, specifically at sites of guanine quadruplex motifs in transcribed genes. PMID: 29348659
6. Data show that helicases RHAU, BLM, and WRN exhibit distinct G-quadruplex (GQ) conformation specificity, but use a common mechanism of repetitive unfolding that leads to disrupting GQ structure multiple times in succession. PMID: 27407146
7. Mutations within the domain VI of BLM detected in human cancer samples demonstrate the functional importance of this domain, suggesting human tumorigenicity resulting from mtBLM may be at least partly attributed to mitigated FANCD2 activation. PMID: 27083049
8. Sgs1 and BLM regulate R-loop-associated genome instability. PMID: 29042409
9. These results showed that BLM enters the nucleus via the importin beta1, RanGDP and NTF2 dependent pathway, demonstrating for the first time the nuclear trafficking mechanism of a DNA helicase. PMID: 29017749
10. The anti-recombinase activity of BLM is of general importance for normal retention of RAD51 at DNA double strand break sites and regulation of homologous recombination. PMID: 28912125
11. The authors show that the helicase of hDNA2 functionally integrates with BLM or WRN helicases to promote double-stranded DNA degradation by forming a heterodimeric molecular machine. This collectively suggests that the human DNA2 motor promotes the enzyme's capacity to degrade double-stranded DNA in conjunction with BLM or WRN and thus promote the repair of broken DNA. PMID: 27612385
12. The BLM-TOP3A-RMI (BTR) dissolvase complex is required for Alternative lengthening of telomeres-mediated telomere synthesis. BLM and SLX4 play opposing roles in recombination-dependent replication at human telomeres. PMID: 28877996
13. Aberrant BLM cytoplasmic expression associates with DNA damage stress and hypersensitivity to DNA-damaging agents in colorectal cancer. PMID: 27169843
14. In humans, mutations in BLM give rise to Bloom's syndrome features genomic instability and susceptibity to cancer. PMID: 27238185
15. in Alternative Lengthening of Telomeres cells, FANCD2 promotes intramolecular resolution of stalled replication forks in telomeric DNA while BLM facilitates their resection and subsequent involvement in the intermolecular exchanges that drive Alternative Lengthening of Telomeres. PMID: 27427384
16. Results show that BLM-deficient human cells produce hemi-loss of heterozygosity by spontaneous deletion even though they exhibit a high spontaneous frequency of inter-allelic homologous recombination. PMID: 27601585
17. BLM deficiency enables HeR in human cells PMID: 27100209
18. these data indicate that carriers of deleterious BLM mutations are at increased risk to develop CRC, albeit with a moderate-to-low penetrance. PMID: 26358404
19. evidence that BLM is a substrate for Fbw7alpha-dependent ubiquitylation and degradation during mitosis PMID: 26028025
20. TopBP1 interacts with BLM to maintain genome stability but is dispensable for preventing BLM degradation.Crucial residues mediating BLM-TOP3A/RMI interactions identified. PMID: 25794620
21. BLM mRNA and BLM protein levels independently influenced BCSS. This is the first and the largest study to provide evidence that BLM is a promising biomarker in breast cancer. PMID: 25673821
22. These findings indicate that the BLM p.Q548X mutation is not a strong risk factor for ovarian cancer. PMID: 25182961
23. The binding model of BLM RQC to a HJ offers the structural insights into the branch migration mechanism of BLM, in which DNA unwinding and annealing might be coordinated. PMID: 24257077
24. this is the first genetic association study to show the significant association between BLM gene and Prostate cancer susceptibility in Chinese population. PMID: 25472581
25. RecQ-like helicase BLM subcellular localization is regulated by SUMO-targeted ubiquitin ligase RNF4 in response to DNA damage, presumably to prevent illegitimate recombination events. PMID: 25588990
26. Chk1 phosphorylates BLM-S502 to inhibit cullin-3-mediated BLM degradation during interphase. PMID: 25015292
27. Findings indicate that BLM functions in 2 distinct pathways. In one, BLM functions to suppress sister chromatid exchanges formation; in the second one, T99 and T122 phosphorylations are essential for suppression of chromosomal radial formation. PMID: 25766002
28. A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members. PMID: 25129257
29. The data highlight the importance of Mus81 and Blm in DNA double-strand repair pathways, fertility, development and cancer. PMID: 24858046
30. Mutational analysis by direct DNA sequencing revealed a novel frameshift mutation (c.1980-1982delAA) in exon 8 of BLM gene, resulting in a truncated protein (p.Lys662fsX5). PMID: 24118499
31. BLM protein crystal structure provides detailed information on the interactions of the protein with DNA and helps to explain the mechanism coupling ATP hydrolysis and DNA unwinding. PMID: 24816114
32. Results suggest that BRCA1 participates in ALT through its interactions with RAD50 and BLM. PMID: 25084169
33. WRN and BLM act epistatically with DNA2 to promote the long-range resection of double strand break ends in human cells. PMID: 25122754
34. identified mRNA and miRNA expression differences in Bloom syndrome patient and BLM-depleted cells PMID: 24958861
35. Data highlight a dual role for BLM that influences the DSB repair pathway choice: protection against CtIP/MRE11 long-range deletions associated with A-EJ and promotion of DNA resection. PMID: 24095737
36. BLM was ubiquitinated by E3 ligase MIB1 and degraded in G1 cells but was stabilized by TopBP1 in S phase cells. PMID: 24239288
37. two proteins that interact with BLM, RMI1 and RMI2, are phosphorylated upon SAC activation, and, like BLM, RMI1, and RMI2, are phosphorylated in an MPS1-dependent manner. PMID: 24108125
38. Case-control study to check an association between the genotypes of the c.-61 G>T and the g.38922 C>G polymorphisms of the RAD51 gene and the g.96267 A>C and the g.85394 A>G polymorphisms of the BLM gene and breast cancer occurrence. PMID: 23404160
39. The BLM Q548X mutation does not predispose patients to prostate cancer or affect prostate cancer survival. PMID: 24096176
40. FE65 interactions with BLM and MCM proteins may contribute to the neuronal cell cycle re-entry observed in brains affected by Alzheimer's disease. PMID: 23572515
41. DNA topoisomerase I stimulates BLM helicase activity on a nucleolar-relevant RNA:DNA hybrid. PMID: 23261817
42. Consistent with its role as a scaffolding protein for the assembly of BLM and RAD51 foci, cells depleted of SPIDR show increased rate of sister chromatid exchange and defects in homologous recombination repair. PMID: 23509288
43. BLM helicase is major player in recombination-mediated telomere maintenance PMID: 23268311
44. an important biochemical link between the UbS-DDR and BLM-dependent pathways involved in maintaining genome stability. PMID: 23708797
45. Nonsense mutation p.Q548X in BLM protein is associated with breast cancer in Slavic populations. PMID: 23225144
46. BLM depletion compromises replication fork recovery and leads to extensive delay of cell division after hydroxyurea-induced stalling. PMID: 23253856
47. Eighteen polymorphisms in four DNA repair genes were genotyped in 789 age related cataract patients and 531 normal controls from the Jiangsu Eye Study. PMID: 23322570
48. 27 BLM alleles that are not currently known to be associated with Bloom syndrome, are identified. PMID: 23129629
49. Depleting BLM increased the mutation frequency at telomeres and at the MS32 minisatellite, which is a marker of Alternative Lengthening of Telomeres. PMID: 22989712
50. we identified faults in two genes, Fanconi C and Bloom helicase( FANCC and BLM), in six families. Faults in these genes appear to increase the risk of developing breast cancer PMID: 23028338

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HGNC: 1058

OMIM: 210900

KEGG: hsa:641

STRING: 9606.ENSP00000347232

UniGene: Hs.725208