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Mutation and Divers...
Mutation and Diversity in Avian Sex Chromosomes
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- Sundström, Hannah, 1975- (author)
- Uppsala universitet,Institutionen för evolutionsbiologi
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Ellegren, Hans (thesis advisor)
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- Burt, David W., PhD (opponent)
- Department of Genomics and Bioinformatics, Roslin Institute, Edinburgh
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(creator_code:org_t)
- ISBN 9155457762
- Uppsala : Acta Universitatis Upsaliensis, 2003
- English 66 s.
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Series: Comprehensive Summaries of Uppsala Dissertations from the Faculty of Science and Technology, 1104-232X ; 900
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Abstract
Subject headings
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- Sex chromosomes are useful for the study of how factors such as mutation, selection, recombination and effective population size affect diversity and divergence.A comparison of gametologous introns in seven different bird species revealed a complete lack of diversity on the female-specific W chromosome. In contrast, Z had at least one segregating site in all examined species. This can be explained by the lower mutation rate and lower effective population size of W but also suggests that selection affects diversity levels on the non-recombining W chromosome.In a diverse set of chicken breeds, the Z chromosome showed reduced diversity compared to autosomes and significant heterogeneity in levels of variation. High variance in male reproductive success, leading to a reduced Z chromosome effective population size, can partly explain this observation. In addition, we suggest that selective sweeps frequently act on the Z chromosome and are responsible for a significant part of the observed Z reduction. Differences in the mutation rate of Z and W chromosome sequences indicate that the time spent in male germ line is important for the mutation rate, but does not exclude a specifically reduced mutation rate on the Z chromosome. Estimates of mutation rate in autosomal, Z- and W-linked chicken and turkey sequences indicate a slight reduction in the rate on Z. However, due to rate heterogeneity among introns this reduction is not significant and we cannot exclude male biased mutation as the single cause of rate variation between the chromosomal classes.Analysis of indel mutation rates in avian and mammalian gametologous introns show frequent occurrence of indels on both W and Y, excluding meiotic recombination as the only source of this type of mutation. The different indel rate patterns in birds (Z>W) and mammals (X=Y) suggest that indels are caused by both replication and recombination.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- Genetics
- mutation rate
- diversity
- sex chromosomes
- indels
- male bias
- selective sweep
- effective population size
- birds
- Genetik
- Clinical genetics
- Klinisk genetik
Publication and Content Type
- vet (subject category)
- dok (subject category)
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