Helicases and human diseases
نویسندگان
چکیده
منابع مشابه
Helicases and human diseases
Recent progress in pharmaceutical sciences has made it possible for us to live longer and longer. For example, antibiotics and vaccines have been developed that were successfully administered to patients with infectious diseases. A number of effective drugs for specific diseases could be purified from natural resources or created by chemical synthesis, and recent recombinant DNA technologies ha...
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HELICASES ARE MOTOR PROTEINS THAT UTILIZE THE ENERGY DERIVED from the hydrolysis of nucleoside triphosphates (NTP/dNTP) to disrupt hydrogen-bond interactions in doubleor multi-stranded DNA and RNA. All known helicases are recognized to have at least two intrinsic enzymatic activities: (1) NTP/dNTP-dependent nucleic acid unwinding and (2) DNA/RNA-dependent NTP/dNTP hydrolysis. Unwinding of DNA a...
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Six known or predicted helicases that are mutated in human syndromes are now recognized. These syndromes include xeroderma pigmentosum, Cockayne's syndrome, trichothiodystrophy, Bloom's syndrome, Werner's syndrome, and alpha-thalassemia mental retardation on the X chromosome. The clinical abnormalities in these syndromes cover a broad spectrum, pointing to different cellular processes of DNA ma...
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The RecQ family DNA helicases Werner syndrome protein (WRN) and Bloom syndrome protein (BLM) play a key role in protecting the genome against deleterious changes. In humans, mutations in these proteins lead to rare genetic diseases associated with cancer predisposition and accelerated aging. WRN and BLM are distinguished from other helicases by possessing signature tandem domains toward the C t...
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Protein-coding genes account for only a small fraction of the human genome and most of the genomic sequences are transcriptionally silent, but recent observations indicate significant functional elements, including non-coding protein transcripts in the human genome. Long non-coding RNAs (lncRNAs) have been defined as transcripts of >200 nucleotides without protein-coding capacity that perform t...
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ژورنال
عنوان ژورنال: Frontiers in Genetics
سال: 2015
ISSN: 1664-8021
DOI: 10.3389/fgene.2015.00039