In addition to xeroderma pigmentosum, mutations in the human XPG gene cause early onset Cockayne syndrome (CS). Here, we provide evidence for the involvement of RAD2, the S. cerevisiae counterpart of XPG, in promoting efficient RNA polymerase II transcription. Inactivation of RAD26, the S. cerevisiae counterpart of the human CSB gene, also causes a deficiency in transcription, and a synergistic decline in transcription occurs in the absence of both the RAD2 and RAD26 genes. Growth is also retarded in the rad2 Delta and rad26 Delta single mutant strains, and a very severe growth inhibition is seen in the rad2 Delta rad26 Delta double mutant. From these and other observations presented here, we suggest that transcriptional defects are the underlying cause of CS.
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http://dx.doi.org/10.1016/s0092-8674(02)00795-x | DOI Listing |
Per Med
December 2024
Hanoi Medical University, Hanoi city, Vietnam.
Xeroderma pigmentosum (XP) disorder is recognized as a genetic condition inherited by autosomal recessive fashion. XP results from a defective DNA repair mechanism that significantly increases skin cancer risk. Fifteen Vietnamese patients were investigated with typical clinical manifestations of XP.
View Article and Find Full Text PDFPLoS Genet
December 2024
Laboratory of Cancer Biology and Genetics, DNA Repair Section, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by pathogenic variants in seven nucleotide excision repair genes (XPA to XPG) and POLH involved in translesion synthesis. XP patients have a >1000-fold increased risk for sunlight-induced skin cancers. Many Japanese XP-A patients have severe neurological symptoms due to a founder variant in intron 3 of the XPA gene.
View Article and Find Full Text PDFFood Res Int
December 2024
College of Life Sciences and Medicine, Zhejiang Sci-Tech University, Hangzhou 310018, China. Electronic address:
The growth of the world population and the rapid industrialization of food have led to food producers' increased reliance on food additives. While food additives offer numerous conveniences and advantages in food applications, the potential risks associated with synthetic additives remain a significant concern. This report examines the current status of safety assessment and toxicity studies of common synthetic additives, including flavorings (sweeteners and flavor enhancers), colorants, preservatives (antimicrobials and antioxidants), and emulsifiers.
View Article and Find Full Text PDFIUBMB Life
December 2024
Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Nat Commun
October 2024
Department of Chemistry, Georgia State University, Atlanta, GA, USA.
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