Concurrent Nucleotide Substitution Mutations in the Human Genome Are Characterized by a Significantly Decreased Transition/Transversion Ratio. Issue 3 (March 2015)

• Record Type: Journal Article
• Authors: Zhu, Wenjuan; Cooper, David N.; Zhao, Qiang; Wang, Ye; Liu, Ruihong; Li, Qibin; Férec, Claude; Wang, Yiming; Chen, Jian‐Min
• Is Part Of: Human mutation. Volume 36:Issue 3(2015:Mar.)
• Page Start: 333
• Page End: 341
• Publication Date: 2015-03
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22749
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22749-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Employing disease‐causing mutations as a model system, we have previously reported a "separation distance" signature and a GC/GC&gt;AA/TT mutational signature of concurrently generated multiple‐nucleotide substitution (MNS) mutations in the Journal. Here, employing again disease‐causing mutations as a model system, we report a further mutational signature of concurrently generated MNS mutations: they exhibit a &gt;twofold lower transitions/transversions ratio than independently generated single nucleotide substitution mutations. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgjb80x96n" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>