Mononucleotide repeat expansions with non-natural polymerase substrates
نویسندگان
چکیده
منابع مشابه
Ligase-based detection of mononucleotide repeat sequences.
Up to 15% of all colorectal cancers are considered to be replication error positive (RER(+)) and contain mutations at hundreds of thousands of microsatellite repeat sequences. Recently, a number of intragenic mononucleotide repeat sequences have been demonstrated to be targets for inactivating genes in RER(+)colorectal tumors. In this study, thermostable DNA ligases were tested for the ability ...
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The general model that dominant diseases are caused by mutations that result in a gain or change in function of the corresponding protein was challenged by the discovery that the myotonic dystrophy type 1 mutation is a CTG expansion located in the 3' untranslated portion of a kinase gene. The subsequent discovery that a similar transcribed but untranslated CCTG expansion in an intron causes the...
متن کاملFold-back structures at the distal end influence DNA slippage at the proximal end during mononucleotide repeat expansions.
Polymerase slippage during DNA synthesis by the Klenow fragment of DNA polymerase across A, C, G and T repeats (30 bases) has been studied. Within minutes, duplexes that contain only repeats (30 bp) expand dramatically to several hundred base pairs long. Rate comparisons in a repeat duplex when one strand was expanded as against that when both strands were expanded suggest a model of migrating ...
متن کاملMolecular Models for Repeat Expansions
Expansions of simple DNA repeats account for more than two dozen hereditary disorders in humans (for recent reviews see Lenzmeier and Freudenreich, Jin and Warren, Parniewski and Staczek, Ranum and Day, Brown and Brown, Cummings and Zoghbi, Bowater and Wells, and Siyanova and Mirkin). Table 1 describes those diseases and their important genetic features. Although originally discovered expansion...
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Mismatch repair-deficient cancers are characterized by widespread insertions and deletions in microsatellite sequences, including those comprised of mononucleotide repeats. Such alterations have been observed in relatively short mononucleotide tracts in several genes and often are interpreted to indicate that the affected genes normally act as tumor suppressors. To aid in the interpretation of ...
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ژورنال
عنوان ژورنال: Scientific Reports
سال: 2021
ISSN: 2045-2322
DOI: 10.1038/s41598-021-82150-2