Related Experiment Video
Updated: Aug 12, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
The novel BLM3 gene encodes a protein that protects against lethal effects of oxidative damage
D E Febres1, A Pramanik, M Caton
1Department of Microbiology, City University of New York Medical School and Sophie Davis School of Biomedical Education, New York 10031, USA.
Abstract:
Mutational alteration of the BLM3 gene in Saccharomyces cerevisiae confers hypersensitivities to lethal effects of ionizing radiation, anticancer bleomycins and structurally-related phleomycins. Bleomycin is used clinically in the treatment of many types of cancers, including Kaposi's sarcoma. The BLM3 gene was cloned from a genomic library by complementing the drug hypersensitivities conferred by the codominant blm3-1 mutation. The nucleotide sequence of BLM3 encodes a predicted integral protein of 1804 amino acids with seven to ten potential transmembrane domains and additional motifs. The blm3 null mutation was created by gene replacement, and found not to be essential for growth in the absence of the bleomycin-phleomycin antibiotics. Sequence analyses suggest the Blm3p could be a potential member of the major facilitator superfamily (MFS) of permeases. Northern dot blot analyses using a human RNA master tissue blot containing RNA from fifty different fetal and adult tissues revealed sequence homology in adult tissues to BLM3, but no sequence homology in fetal tissues. The function of the Blm3p is presently unknown. We propose several functions for the Blm3p in protecting cells against oxidative agents, including roles in detoxification, transport and defending against DNA damage.
Insights
Mutations in the BLM3 gene cause sensitivity to radiation and cancer drugs like bleomycin. The BLM3 gene
Area of Science:
- Molecular Biology
- Genetics
- Biochemistry
Background:
- The BLM3 gene in Saccharomyces cerevisiae is implicated in cellular resistance to DNA-damaging agents.
- Bleomycin, an anticancer drug, shares structural similarities with phleomycin, and both induce hypersensitivity when BLM3 is mutated.
- Bleomycin is a clinically relevant chemotherapeutic agent used for various cancers.
Purpose of the Study:
- To clone and characterize the BLM3 gene responsible for drug hypersensitivity.
- To elucidate the potential function of the Blm3 protein (Blm3p) in cellular protection mechanisms.
Main Methods:
- Gene cloning by complementation of drug hypersensitivity.
- Nucleotide sequencing and analysis of the BLM3 gene.
- Creation of a blm3 null mutation via gene replacement.
- Northern dot blot analysis to assess BLM3 expression in human tissues.
Main Results:
- The BLM3 gene was cloned, and its nucleotide sequence predicts an integral membrane protein with multiple transmembrane domains.
- The blm3 null mutation is not essential for growth under normal conditions but confers hypersensitivity to bleomycin and phleomycin.
- Sequence analysis suggests Blm3p may belong to the major facilitator superfamily (MFS) of permeases.
- BLM3 sequence homology was detected in adult human tissues but not in fetal tissues.
Conclusions:
- The BLM3 gene product, Blm3p, is a potential permease involved in cellular defense mechanisms.
- Proposed functions for Blm3p include detoxification, transport, and protection against DNA damage from oxidative agents.
- The differential expression of BLM3 in adult versus fetal tissues suggests a role in specific physiological processes or responses.
More Related Videos
12:15Quantification of three DNA Lesions by Mass Spectrometry and Assessment of Their Levels in Tissues of Mice Exposed to Ambient Fine Particulate Matter
Published on: May 29, 2019
10:00Induction and Analysis of Oxidative Stress in Sleeping Beauty Transposon-Transfected Human Retinal Pigment Epithelial Cells
Published on: December 11, 2020
Related Concept Videos
Nucleotide Excision Repair
DNA Damage can Stall the Cell Cycle
Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Abnormal Proliferation
Nucleotide Excision Repair
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...