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Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
It is reported that three RTS patients carried two types of compound heterozygous mutations in RECQL4, which suggests that mutation ofRECQL4 at human chromosome 8q24.3 is responsible for at least some cases of RTS.
Characterization and gene cloning of 1,3-beta-D-glucan synthase from Saccharomyces cerevisiae.
1,3-beta-D-Glucan synthase of Saccharomyces cerevisiae was solubilized and purified up to 700-fold by product entrapment and disruption of each gene was not lethal, but disruption of both genes was lethal.
Viral and cellular mRNA capping: Past and prospects
Bloom's and Werner's syndrome genes suppress hyperrecombination in yeast sgs1 mutant: implication for genomic instability in human diseases.
- K. Yamagata, J. Kato, A. Shimamoto, M. Goto, Y. Furuichi, H. Ikeda
- BiologyProceedings of the National Academy of Sciences…
- 21 July 1998
It is shown that yeast Sgs1 helicase acts as a suppressor of illegitimate recombination through homologous recombination and that human BLM and WRN helicases can suppress the increased homologueous and illegitimate recombinations in the S. cerevisiae sgs1 mutant.
Regulation of CDK4 activity by a novel CDK4-binding protein, p34(SEI-1).
P34(SEI-1) seems to act as a growth factor sensor and may facilitate the formation and activation of cyclin D-CDK complexes in the face of inhibitory levels of INK4 proteins.
Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes.
- S. Kitao, I. Ohsugi, K. Ichikawa, M. Goto, Y. Furuichi, A. Shimamoto
- Biology, MedicineGenomics
- 15 December 1998
The biological significance of multiple species of human RecQ helicases, which are apparently nonessential for life but may be related to distinct diseases, is discussed in light of the fact that unicellular organisms, like Escherichia coli and yeast, contain only one species of helicase of this particular family.
Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products.
The genomic organization of the RECQL4 gene is shown, including the exon-intron boundaries, the transcription initiation sites, and the potential promoter sequences, which facilitates further mutation analysis of the RecQ gene and studies to elucidate the pathogenesis behind Rothmund-Thomson syndrome.
The Rothmund-Thomson gene product RECQL4 localizes to the nucleolus in response to oxidative stress.
Human RecQ5β, a large isomer of RecQ5 DNA helicase, localizes in the nucleoplasm and interacts with topoisomerases 3α and 3β
The results predict that RecQ5β may have an important role in DNA metabolism and may also be related to a distinct genetic disease.
Human RecQ5beta, a large isomer of RecQ5 DNA helicase, localizes in the nucleoplasm and interacts with topoisomerases 3alpha and 3beta.
The results predict that RecQ5beta may have an important role in DNA metabolism and may also be related to a distinct genetic disease.