scholarly journals Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM

2015 ◽  
Vol 4 (1) ◽  
pp. 106-119 ◽  
Author(s):  
Vivek M. Shastri ◽  
Kristina H. Schmidt
Keyword(s):  
Bloom Syndrome ◽  
Helicase Gene

scholarly journals Case Report: Diabetes in Chinese Bloom Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Mingqun Deng ◽  
Miao Yu ◽  
Ruizhi Jiajue ◽  
Kai Feng ◽  
Xinhua Xiao
Keyword(s):  
Case Report ◽  
Chinese Population ◽  
Autosomal Recessive ◽  
Molecular Mechanisms ◽  
Autosomal Recessive Disorder ◽  
Bloom Syndrome ◽  
Clinical Spectrum ◽  
Sequence Variant ◽  
First Case ◽  
Helicase Gene

Bloom syndrome (BS) is a rare autosomal recessive disorder that causes several endocrine abnormalities. So far, only one BS pedigree, without diabetes, has been reported in the Chinese population. We presented the first case of BS with diabetes in the Chinese population and explored the clinical spectrum associated with endocrine. Possible molecular mechanisms were also investigated. Our study indicated that BS may be one rare cause of diabetes in the Chinese population. We also found a new pathogenic sequence variant in BLM (BLM RecQ like helicase gene)(NM_000057.4) c.692T>G, which may expand the spectrum of BLM variants.

scholarly journals BLM helicase suppresses recombination at G-quadruplex motifs in transcribed genes

2017 ◽  
Author(s):  
Niek van Wietmarschen ◽  
Sarra Merzouk ◽  
Nancy Halsema ◽  
Diana C.J. Spierings ◽  
Victor Guryev ◽  
...  
Keyword(s):  
Sister Chromatid ◽  
Genome Instability ◽  
Bloom Syndrome ◽  
Sister Chromatid Exchanges ◽  
Template Strand ◽  
Coding Regions ◽  
Guanine Quadruplex ◽  
Helicase Gene ◽  
Genomic Locations ◽  
Dna Template

AbstractBloom syndrome is a cancer predisposition disorder caused by mutations in the BLM helicase gene. Cells from persons with Bloom syndrome exhibit striking genomic instability characterized by excessive sister chromatid exchange events (SCEs). We applied single-cell DNA template strand-sequencing (Strand-seq) to map the genomic locations of SCEs at a resolution that is orders of magnitude better than was previously possible. Our results show that, in the absence of BLM, sister chromatid exchanges in human and murine cells do not occur randomly throughout the genome but are strikingly enriched at coding regions, specifically at sites of putative guanine quadruplex (G4) motifs in transcribed genes. We propose that BLM protects against genome instability by suppressing recombination at sites of G4 structures, particularly in transcribed regions of the genome.

Study on The Mechanism of Effects of Lomefloxacin on Biological Properties of Bloom Syndrome Helicase*

2011 ◽  
Vol 38 (11) ◽  
pp. 1060-1071 ◽  
Author(s):  
Heng LUO ◽  
Xiang CHEN ◽  
Mei DING ◽  
Qi-Xin YANG ◽  
Hou-Qiang XU
Keyword(s):  
Biological Properties ◽  
Bloom Syndrome

Treatment of Bloom syndrome patients: Guidelines and report of a case

1996 ◽  
Vol 114 (2) ◽  
pp. 295-298 ◽  
Author(s):  
B WONG ◽  
G HASHISAKI
Keyword(s):  
Bloom Syndrome

scholarly journals Analysis of mitotic and meiotic defects in Saccharomyces cerevisiae SRS2 DNA helicase mutants.

Genetics ◽  
1992 ◽  
Vol 132 (1) ◽  
pp. 23-37 ◽  
Author(s):  
F Palladino ◽  
H L Klein
Keyword(s):  
Saccharomyces Cerevisiae ◽  
Dna Helicase ◽  
Missense Mutations ◽  
Spore Viability ◽  
Mutational Change ◽  
Uv Sensitivity ◽  
Helicase Gene ◽  
Definition Of ◽  
Gene Variability ◽  
New Alleles

Abstract The hyper-gene conversion srs2-101 mutation of the SRS2 DNA helicase gene of Saccharomyces cerevisiae has been reported to suppress the UV sensitivity of rad18 mutants. New alleles of SRS2 were recovered using this suppressor phenotype. The alleles have been characterized with respect to suppression of rad18 UV sensitivity, hyperrecombination, reduction of meiotic viability, and definition of the mutational change within the SRS2 gene. Variability in the degree of rad18 suppression and hyperrecombination were found. The alleles that showed the severest effects were found to be missense mutations within the consensus domains of the DNA helicase family of proteins. The effect of mutations in domains I (ATP-binding) and V (proposed DNA binding) are reported. Some alleles of SRS2 reduce spore viability to 50% of wild-type levels. This phenotype is not bypassed by spo13 mutation. Although the srs2 homozygous diploids strains undergo normal commitment to meiotic recombination, this event is delayed by several hours in the mutant strains and the strains appear to stall in the progression from meiosis I to meiosis II.

An Unusual Case of Bloom Syndrome Presenting with Basal Cell Carcinoma

2009 ◽  
Vol 35 (1) ◽  
pp. 131-134
Author(s):  
MICHELLE DRAZNIN ◽  
DAVID T. ROBLES ◽  
VIET NGUYEN ◽  
DANIEL BERG
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Unusual Case ◽  
Bloom Syndrome

Immune responses in four patients with Bloom syndrome

1979 ◽  
Vol 12 (1) ◽  
pp. 12-19 ◽  
Author(s):  
C.M.R. Weemaes ◽  
J.A.J.M. Bakkeren ◽  
B.G.A. ter Haar ◽  
T.W.J. Hustinx ◽  
P.J.J. van Munster
Keyword(s):  
Immune Responses ◽  
Bloom Syndrome
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