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PMID: 7769622 Published · ppublish English Comparative Study Journal Article Research Support, U.S. Gov't, P.H.S.

The size distribution of insertions and deletions in human and rodent pseudogenes suggests the logarithmic gap penalty for sequence alignment.

Journal of molecular evolution ·Vol. 40 ·No. 4 ·1995-04-00 ·Pages 464-73

Gu X, Li WH

Abstract

The size distributions of deletions, insertions, and indels (i.e., insertions or deletions) were studied, using 78 human processed pseudogenes and other published data sets. The following results were obtained: (1) Deletions occur more frequently than do insertions in sequence evolution; none of the pseudogenes studied shows significantly more insertions than deletions. (2) Empirically, the size distributions of deletions, insertions, and indels can be described well by a power law, i.e., fk = Ck-b, where fk is the frequency of deletion, insertion, or indel with gap length k, b is the power parameter, and C is the normalization factor. (3) The estimates of b for deletions and insertions from the same data set are approximately equal to each other, indicating that the size distributions for deletions and insertions are approximately identical. (4) The variation in the estimates of b among various data sets is small, indicating that the effect of local structure exists but only plays a secondary role in the size distribution of deletions and insertions. (5) The linear gap penalty, which is most commonly used in sequence alignment, is not supported by our analysis; rather, the power law for the size distribution of indels suggests that an appropriate gap penalty is wk = a + b ln k, where a is the gap creation cost and blnk is the gap extension cost. (6) The higher frequency of deletion over insertion suggests that the gap creation cost of insertion (ai) should be larger than that of deletion (ad); that is, ai - ad = ln R, where R is the frequency ratio of deletions to insertions.

MeSH Terms
Animals Humans Models, Genetic Mutation Pseudogenes Rodentia/genetics Sequence Alignment Sequence Deletion
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Gu X
Human Genetics Center, SPH, University of Texas, Houston 77225, USA.
Li W H
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19 references, click to expand
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Article Info
Journal
Journal of molecular evolution
Abbr.
J Mol Evol
ISSN
0022-2844
Published
1995-04-00
Pages
464-73
Language
English
Region
Germany
NLM ID
0360051
Subset
IM
Grants
NIGMS NIH HHS · GM30998 · United States
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