Occurrence and consequences of coding sequence insertions and deletions in Mammalian genomes.

Nucleotide insertion and deletion (indel) events, together with substitutions, represent the major mutational processes of gene evolution. Through the alignment of 8148 orthologous genes from human, mouse, and rat, we have identified 1743 indel events within rodent protein-coding sequences. Using hu...

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Main Authors: Taylor, MS, Ponting, C, Copley, R
Format: Journal article
Language:English
Published: 2004
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author Taylor, MS
Ponting, C
Copley, R
author_facet Taylor, MS
Ponting, C
Copley, R
author_sort Taylor, MS
collection OXFORD
description Nucleotide insertion and deletion (indel) events, together with substitutions, represent the major mutational processes of gene evolution. Through the alignment of 8148 orthologous genes from human, mouse, and rat, we have identified 1743 indel events within rodent protein-coding sequences. Using human as an out-group, we reconstructed the mutational event underlying each of these indels. Overall, we found an excess of deletions over insertions, particularly for the rat lineage (70% excess). Sequence slippage accounts for at least 52% of insertions and 38% of deletions. We have also evaluated the selective tolerance of identifiable protein structures to indels. Transmembrane domains are the least, and low complexity regions, the most tolerant. Mapping of indels onto known protein structures demonstrated that structural cores are markedly less tolerant to indels than are loop regions. There is a specific enrichment of CpG dinucleotides in close proximity to insertion events, and both insertions and deletions are more common in higher G+C content sequences.
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spelling oxford-uuid:25cdf4fe-f757-449b-8cba-c10d77d0730d2022-03-26T11:57:34ZOccurrence and consequences of coding sequence insertions and deletions in Mammalian genomes.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:25cdf4fe-f757-449b-8cba-c10d77d0730dEnglishSymplectic Elements at Oxford2004Taylor, MSPonting, CCopley, RNucleotide insertion and deletion (indel) events, together with substitutions, represent the major mutational processes of gene evolution. Through the alignment of 8148 orthologous genes from human, mouse, and rat, we have identified 1743 indel events within rodent protein-coding sequences. Using human as an out-group, we reconstructed the mutational event underlying each of these indels. Overall, we found an excess of deletions over insertions, particularly for the rat lineage (70% excess). Sequence slippage accounts for at least 52% of insertions and 38% of deletions. We have also evaluated the selective tolerance of identifiable protein structures to indels. Transmembrane domains are the least, and low complexity regions, the most tolerant. Mapping of indels onto known protein structures demonstrated that structural cores are markedly less tolerant to indels than are loop regions. There is a specific enrichment of CpG dinucleotides in close proximity to insertion events, and both insertions and deletions are more common in higher G+C content sequences.
spellingShingle Taylor, MS
Ponting, C
Copley, R
Occurrence and consequences of coding sequence insertions and deletions in Mammalian genomes.
title Occurrence and consequences of coding sequence insertions and deletions in Mammalian genomes.
title_full Occurrence and consequences of coding sequence insertions and deletions in Mammalian genomes.
title_fullStr Occurrence and consequences of coding sequence insertions and deletions in Mammalian genomes.
title_full_unstemmed Occurrence and consequences of coding sequence insertions and deletions in Mammalian genomes.
title_short Occurrence and consequences of coding sequence insertions and deletions in Mammalian genomes.
title_sort occurrence and consequences of coding sequence insertions and deletions in mammalian genomes
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