Related Experiment Video
Updated: Jul 15, 2026

Genetic Studies of Human DNA Repair Proteins Using Yeast as a Model System
Published on: March 18, 2010
A human gene responsible for Zellweger syndrome that affects peroxisome assembly
N Shimozawa1, T Tsukamoto, Y Suzuki
1Department of Pediatrics, Gifu University School of Medicine, Japan.
Abstract:
The primary defect arising from Zellweger syndrome appears to be linked to impaired assembly of peroxisomes. A human complementary DNA has been cloned that complements the disease's symptoms (including defective peroxisome assembly) in fibroblasts from a patient with Zellweger syndrome. The cause of the syndrome in this patient was a point mutation that resulted in the premature termination of peroxisome assembly factor-1. The homozygous patient apparently inherited the mutation from her parents, each of whom was heterozygous for that mutation.
More Related Videos
Related Concept Videos
Pleiotropy
Nucleotide Excision Repair
Nucleotide Excision Repair
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon has three reading...
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...
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...

