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• W1521431023 abstract "Publisher Summary This chapter discusses an approach used to determine the extent to which aberrations in DNA metabolism might form the basis for various human progeroid syndromes. It provides a review of the present status of the knowledge of what is the most striking of the segmental progeroid syndromes—a rare autosomal recessive genetic disorder known as the “Werner syndrome.” There has been steady progress toward the elucidation of structure and function of the WS locus Werner (WRN). It is clear that the WRN gene product (WRNp) has both helicase and exonuclease functions. There is also evidence that null mutations of WRN are responsible for classical forms of WRNs. WRN is expressed during fetal development despite the fact that many symptoms of WRNs begin after puberty. Semi-quantitative RT-PCR and Western analysis of human aortic tissues ranging from 49 days of gestation to a 91-year-old adult showed large variations of the WRN expression levels, even within the same individual. The possible roles of such variations in physiology and pathophysiology should be investigated. There are several possible mechanisms by which defects of WRNp might affect multiple areas of DNA metabolism. First, WRNp or a WRNp complex may play a role in an intermediate step common to different DNA transactions. Second, different sets of functional domains of WRNp might be utilized in different steps of DNA metabolism." @default.
• W1521431023 created "2016-06-24" @default.
• W1521431023 creator A5014005532 @default.
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• W1521431023 date "2001-01-01" @default.
• W1521431023 modified "2023-09-27" @default.
• W1521431023 title "Gene action at the werner helicase locus: its role in the pathobiology of aging" @default.
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• W1521431023 doi "https://doi.org/10.1016/s1566-3124(01)04034-2" @default.
• W1521431023 hasPublicationYear "2001" @default.
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