publication . Article . 2004

Context of Deletions and Insertions in Human Coding Sequences

Alexey S. Kondrashov; Igor B. Rogozin;
Open Access
  • Published: 09 Jan 2004
Abstract
We studied the dependence of the rate of short deletions and insertions on their contexts using the data on mutations within coding exons at 19 human loci that cause mendelian diseases. We confirm that periodic sequences consisting of three to five or more nucleotides are mutagenic. Mutability of sequences with strongly biased nucleotide composition is also elevated, even when mutations within homonucleotide runs longer than three nucleotides are ignored. In contrast, no elevated mutation rates have been detected for imperfect direct or inverted repeats. Among known candidate contexts, the indel context GTAAGT and regions with purine-pyrimidine imbalance between...
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free text keywords: Genetics(clinical), Genetics, Inverted repeat, Genetics, DNA, chemistry.chemical_compound, chemistry, Biology, Indel, Microsatellite, Mutation, medicine.disease_cause, medicine, Locus (genetics), Exon, Mutation rate
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Article . 2004
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Human Mutation
Article . 2004
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