BLM Gene

2020 ◽  
Author(s):  
Keyword(s):  
Blm Gene

Genomic instability and cancer: lessons from analysis of Bloom's syndrome

2009 ◽  
Vol 37 (3) ◽  
pp. 553-559 ◽  
Author(s):  
Miranda Payne ◽  
Ian D. Hickson
Keyword(s):  
Genomic Instability ◽  
Mitotic Chromosome ◽  
Genetic Defect ◽  
Autosomal Recessive Disorder ◽  
Recq Helicase ◽  
Bloom's Syndrome ◽  
Binding Partners ◽  
Bloom’S Syndrome ◽  
Syndrome Protein ◽  
Blm Gene

Bloom's syndrome (BS) is a rare autosomal recessive disorder characterized by genomic instability and cancer predisposition. The underlying genetic defect is mutation of the BLM gene, producing deficiency in the RecQ helicase BLM (Bloom's syndrome protein). The present article begins by introducing BLM and its binding partners before reviewing its known biochemical activities and its potential roles both as a pro-recombinase and as a suppressor of homologous recombination. Finally, the evidence for an emerging role in mitotic chromosome segregation is examined.

Colorectal cancer and BLM gene heterozygosity

2002 ◽  
Vol 123 (5) ◽  
pp. 1425
Author(s):  
Leslie Lang
Keyword(s):  
Colorectal Cancer ◽  
Blm Gene

scholarly journals Functional interactions between BLM and XRCC3 in the cell

2007 ◽  
Vol 179 (1) ◽  
pp. 53-63 ◽  
Author(s):  
Makoto Otsuki ◽  
Masayuki Seki ◽  
Eri Inoue ◽  
Akari Yoshimura ◽  
Genta Kato ◽  
...  
Keyword(s):  
Sister Chromatid Exchanges ◽  
Methyl Methanesulfonate ◽  
Dna Topoisomerase ◽  
Homologous Chromosomes ◽  
Uv Sensitivity ◽  
Functional Interactions ◽  
Dna Damaging Agents ◽  
Repair Pathways ◽  
Chromatid Exchanges ◽  
Blm Gene

Bloom's syndrome (BS), which is caused by mutations in the BLM gene, is characterized by a predisposition to a wide variety of cancers. BS cells exhibit elevated frequencies of sister chromatid exchanges (SCEs), interchanges between homologous chromosomes (mitotic chiasmata), and sensitivity to several DNA-damaging agents. To address the mechanism that confers these phenotypes in BS cells, we characterize a series of double and triple mutants with mutations in BLM and in other genes involved in repair pathways. We found that XRCC3 activity generates substrates that cause the elevated SCE in blm cells and that BLM with DNA topoisomerase IIIα suppresses the formation of SCE. In addition, XRCC3 activity also generates the ultraviolet (UV)- and methyl methanesulfonate (MMS)–induced mitotic chiasmata. Moreover, disruption of XRCC3 suppresses MMS and UV sensitivity and the MMS- and UV-induced chromosomal aberrations of blm cells, indicating that BLM acts downstream of XRCC3.

scholarly journals miR‑27b‑3p and miR‑607 cooperatively regulate BLM gene expression by directly targeting the 3'‑UTR in PC3 cells

2019 ◽  
Author(s):  
Yinglian Chen ◽  
Jiafu Zhao ◽  
Zhiqiang Duan ◽  
Ting Gong ◽  
Wei Chen ◽  
...  
Keyword(s):  
Gene Expression ◽  
Pc3 Cells ◽  
Blm Gene

scholarly journals Evolution of the RECQ Family of Helicases: A Drosophila Homolog, Dmblm, Is Similar to the Human Bloom Syndrome Gene

Genetics ◽  
1999 ◽  
Vol 151 (3) ◽  
pp. 1027-1039
Author(s):  
Kohji Kusano ◽  
Mark E Berres ◽  
William R Engels
Keyword(s):  
Drosophila Melanogaster ◽  
Homo Sapiens ◽  
Werner Syndrome ◽  
Bloom Syndrome ◽  
Dna Helicase ◽  
Functional Similarity ◽  
Premature Aging ◽  
Model Systems ◽  
C Elegans ◽  
Blm Gene

Abstract Several eukaryotic homologs of the Escherichia coli RecQ DNA helicase have been found. These include the human BLM gene, whose mutation results in Bloom syndrome, and the human WRN gene, whose mutation leads to Werner syndrome resembling premature aging. We cloned a Drosophila melanogaster homolog of the RECQ helicase family, Dmblm (Drosophila melanogaster Bloom), which encodes a putative 1487-amino-acid protein. Phylogenetic and dot plot analyses for the RECQ family, including 10 eukaryotic and 3 prokaryotic genes, indicate Dmblm is most closely related to the Homo sapiens BLM gene, suggesting functional similarity. Also, we found that Dmblm cDNA partially rescued the sensitivity to methyl methanesulfonate of Saccharomyces cerevisiae sgs1 mutant, demonstrating the presence of a functional similarity between Dmblm and SGS1. Our analyses identify four possible subfamilies in the RECQ family: (1) the BLM subgroup (H. sapiens Bloom, D. melanogaster Dmblm, and Caenorhabditis elegans T04A11.6); (2) the yeast RECQ subgroup (S. cerevisiae SGS1 and Schizosaccharomyces pombe rqh1/rad12); (3) the RECQL/Q1 subgroup (H. sapiens RECQL/Q1 and C. elegans K02F3.1); and (4) the WRN subgroup (H. sapiens Werner and C. elegans F18C5.2). This result may indicate that metazoans hold at least three RECQ genes, each of which may have a different function, and that multiple RECQ genes diverged with the generation of multicellular organisms. We propose that invertebrates such as nematodes and insects are useful as model systems of human genetic diseases.

scholarly journals Disruption of the BLM gene in ATM-null DT40 cells does not exacerbate either phenotype

Oncogene ◽  
2004 ◽  
Vol 23 (8) ◽  
pp. 1498-1506 ◽  
Author(s):  
Toshiyuki Fukao ◽  
Philip Chen ◽  
Jun Ren ◽  
Hideo Kaneko ◽  
Gai Xiu Zhang ◽  
...  
Keyword(s):  
Blm Gene ◽  
Dt40 Cells

Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene

2020 ◽  
Author(s):  
Lynn Backers ◽  
Bram Parton ◽  
Marieke De Bruyne ◽  
Simon J. Tavernier ◽  
Kris Van Den Bogaert ◽  
...  
Keyword(s):  
Bloom Syndrome ◽  
Missing Heritability ◽  
First Report ◽  
Blm Gene
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