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Contrasting levels of nucleotide diversity on the avian Z and W sex chromosomes
Uppsala University, Teknisk-naturvetenskapliga vetenskapsområdet, Faculty of Science and Technology, Biology, Department of Evolutionary Biology.
2001 In: Molecular Biology and Evolution, ISSN 0737-4038, Vol. 18, no 11, 2010-2016 p.Article in journal (Refereed) Published
Place, publisher, year, edition, pages
2001. Vol. 18, no 11, 2010-2016 p.
URN: urn:nbn:se:uu:diva-90985OAI: oai:DiVA.org:uu-90985DiVA: diva2:163541
Available from: 2003-10-29 Created: 2003-10-29Bibliographically approved
In thesis
1. Mutation and Diversity in Avian Sex Chromosomes
Open this publication in new window or tab >>Mutation and Diversity in Avian Sex Chromosomes
2003 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

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.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2003. 66 p.
Comprehensive Summaries of Uppsala Dissertations from the Faculty of Science and Technology, ISSN 1104-232X ; 900
Genetics, mutation rate, diversity, sex chromosomes, indels, male bias, selective sweep, effective population size, birds, Genetik
National Category
Medical Genetics
urn:nbn:se:uu:diva-3732 (URN)91-554-5776-2 (ISBN)
Public defence
2003-11-21, Zootissalen, Zoologen, Uppsala, 09:15
Available from: 2003-10-29 Created: 2003-10-29Bibliographically approved

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