DNA helicases in inherited human disorders.
نویسنده
چکیده
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 manipulation that are defective in these syndromes.
منابع مشابه
DNA Helicases and Human Disease
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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The RecQ family of DNA helicases is highly conserved in evolution from bacteria to mammals. There are five human RecQ family members (RECQ1, BLM, WRN, RECQ4 and RECQ5), defects, three of which give rise to inherited human disorders. Mutations of BLM have been identified in patients with Bloom's syndrome, WRN has been shown to be mutated in Werner's syndrome, while mutations of RECQ4 have been a...
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Deficiency in a helicase of the RecQ family is found in at least three human genetic disorders associated with cancer predisposition and/or premature ageing. The RecQ helicases encoded by the BLM, WRN and RECQ4 genes are defective in Bloom's, Werner's and Rothmund-Thomson syndromes, respectively. Cells derived from individuals with these disorders in each case show inherent genomic instability....
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Genomic instability leads to mutations, cellular dysfunction and aberrant phenotypes at the tissue and organism levels. A number of mechanisms have evolved to cope with endogenous or exogenous stress to prevent chromosomal instability and maintain cellular homeostasis. DNA helicases play important roles in the DNA damage response. The RecQ family of DNA helicases is of particular interest since...
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Evolution has led to diversification of all living organisms from a common ancestor. Consequently, all living organisms use a common method to duplicate their genetic information and thus pass on their inherited traits to their offspring. To duplicate chromosomal DNA, double-stranded DNA must first be unwound by helicase, which is loaded to replication origins and activated during the DNA repli...
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عنوان ژورنال:
- Current opinion in genetics & development
دوره 7 3 شماره
صفحات -
تاریخ انتشار 1997