Factors affecting germline mutations in a hypervariable microsatellite: A comparative analysis of six species of swallows (Aves: Hirundinidae)

Jarl A. Anmarkrud, Oddmund Kleven, Jakob Augustin, Kristofer H. Bentz, Donald Blomqvist, Kim J. Fernie, Michael J L Magrath, Henrik Pärn, James S. Quinn, Raleigh J. Robertson, T. Szép, Scott Tarof, Richard H. Wagner, Jan T. Lifjeld

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Microsatellites mutate frequently by replication slippage. Empirical evidence shows that the probability of such slippage mutations may increase with the length of the repeat region as well as exposure to environmental mutagens, but the mutation rate can also differ between the male and female germline. It has been hypothesized that more intense sexual selection or sperm competition can also lead to elevated mutation rates, but the empirical evidence is inconclusive. Here, we analyzed the occurrence of germline slippage mutations in the hypervariable pentanucleotide microsatellite locus HrU10 across six species of swallow (Aves: Hirundinidae). These species exhibit marked differences in the length range of the microsatellite, as well as differences in the intensity of sperm competition. We found a strong effect of microsatellite length on the probability of mutation, but no residual effect of species or their level of sperm competition when the length effect was accounted for. Neither could we detect any difference in mutation rate between tree swallows (Tachycineta bicolor) breeding in Hamilton Harbour, Ontario, an industrial site with previous documentation of elevated mutation rates for minisatellite DNA, and a rural reference population. However, our cross-species analysis revealed two significant patterns of sex differences in HrU10 germline mutations: (1) mutations in longer alleles occurred typically in the male germline, those in shorter alleles in the female germline, and (2) male germline mutations were more often expansions than contractions, whereas no directional bias was evident in the female germline. These results indicate some fundamental differences in male and female gametogenesis affecting the probability of slippage mutations. Our study also reflects the value of a comparative, multi-species approach for locus-specific mutation analyses, through which a wider range of influential factors can be assessed than in single-species studies.

Original languageEnglish
Pages (from-to)37-43
Number of pages7
JournalMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
Volume708
Issue number1-2
DOIs
Publication statusPublished - Mar 15 2011

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Swallows
Germ-Line Mutation
Microsatellite Repeats
Birds
Mutation Rate
Mutation
Spermatozoa
Alleles
Gametogenesis
Minisatellite Repeats
Environmental Exposure
Mutagens
Ontario
Rural Population
Deglutition
Sex Characteristics
Documentation
Breeding
DNA

Keywords

  • Extrapair paternity
  • Germline mutations
  • Hirundinidae
  • HrU10
  • Microsatellite evolution
  • Mutation rates
  • Sperm competition

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Health, Toxicology and Mutagenesis

Cite this

Factors affecting germline mutations in a hypervariable microsatellite : A comparative analysis of six species of swallows (Aves: Hirundinidae). / Anmarkrud, Jarl A.; Kleven, Oddmund; Augustin, Jakob; Bentz, Kristofer H.; Blomqvist, Donald; Fernie, Kim J.; Magrath, Michael J L; Pärn, Henrik; Quinn, James S.; Robertson, Raleigh J.; Szép, T.; Tarof, Scott; Wagner, Richard H.; Lifjeld, Jan T.

In: Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, Vol. 708, No. 1-2, 15.03.2011, p. 37-43.

Research output: Contribution to journalArticle

Anmarkrud, JA, Kleven, O, Augustin, J, Bentz, KH, Blomqvist, D, Fernie, KJ, Magrath, MJL, Pärn, H, Quinn, JS, Robertson, RJ, Szép, T, Tarof, S, Wagner, RH & Lifjeld, JT 2011, 'Factors affecting germline mutations in a hypervariable microsatellite: A comparative analysis of six species of swallows (Aves: Hirundinidae)', Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, vol. 708, no. 1-2, pp. 37-43. https://doi.org/10.1016/j.mrfmmm.2011.01.006
Anmarkrud, Jarl A. ; Kleven, Oddmund ; Augustin, Jakob ; Bentz, Kristofer H. ; Blomqvist, Donald ; Fernie, Kim J. ; Magrath, Michael J L ; Pärn, Henrik ; Quinn, James S. ; Robertson, Raleigh J. ; Szép, T. ; Tarof, Scott ; Wagner, Richard H. ; Lifjeld, Jan T. / Factors affecting germline mutations in a hypervariable microsatellite : A comparative analysis of six species of swallows (Aves: Hirundinidae). In: Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis. 2011 ; Vol. 708, No. 1-2. pp. 37-43.
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